Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Multidrug resistance-associated protein 6

Gene

ABCC6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Isoform 1: May participate directly in the active transport of drugs into subcellular organelles or influence drug distribution indirectly. Transports glutathione conjugates as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM-GS).1 Publication
Isoform 2: Inhibits TNF-alpha-mediated apoptosis through blocking one or more caspases.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi663 – 670ATP 1PROSITE-ProRule annotation8
Nucleotide bindingi1299 – 1306ATP 2PROSITE-ProRule annotation8

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATPase activity, coupled to transmembrane movement of substances Source: GO_Central
  • ATPase-coupled anion transmembrane transporter activity Source: Reactome
  • ATP binding Source: ProtInc
  • transporter activity Source: ProtInc

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processSensory transduction, Transport, Vision
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5690338 Defective ABCC6 causes pseudoxanthoma elasticum (PXE)

SIGNOR Signaling Network Open Resource

More...
SIGNORi
O95255

Protein family/group databases

Transport Classification Database

More...
TCDBi
3.A.1.208.10 the atp-binding cassette (abc) superfamily

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Multidrug resistance-associated protein 6
Alternative name(s):
ATP-binding cassette sub-family C member 6
Anthracycline resistance-associated protein
Multi-specific organic anion transporter E
Short name:
MOAT-E
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCC6
Synonyms:ARA, MRP6
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000091262.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:57 ABCC6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603234 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O95255

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 31ExtracellularBy similarityAdd BLAST31
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei32 – 52Helical; Name=1PROSITE-ProRule annotationAdd BLAST21
Topological domaini53 – 72CytoplasmicBy similarityAdd BLAST20
Transmembranei73 – 93Helical; Name=2PROSITE-ProRule annotationAdd BLAST21
Topological domaini94 – 98ExtracellularBy similarity5
Transmembranei99 – 119Helical; Name=3PROSITE-ProRule annotationAdd BLAST21
Topological domaini120 – 131CytoplasmicBy similarityAdd BLAST12
Transmembranei132 – 149Helical; Name=4PROSITE-ProRule annotationAdd BLAST18
Topological domaini150 – 167ExtracellularBy similarityAdd BLAST18
Transmembranei168 – 188Helical; Name=5PROSITE-ProRule annotationAdd BLAST21
Topological domaini189 – 302CytoplasmicBy similarityAdd BLAST114
Transmembranei303 – 323Helical; Name=6PROSITE-ProRule annotationAdd BLAST21
Topological domaini324 – 349ExtracellularBy similarityAdd BLAST26
Transmembranei350 – 370Helical; Name=7PROSITE-ProRule annotationAdd BLAST21
Topological domaini371 – 426CytoplasmicBy similarityAdd BLAST56
Transmembranei427 – 447Helical; Name=8PROSITE-ProRule annotationAdd BLAST21
Topological domaini448 – 450ExtracellularBy similarity3
Transmembranei451 – 471Helical; Name=9PROSITE-ProRule annotationAdd BLAST21
Topological domaini472 – 533CytoplasmicBy similarityAdd BLAST62
Transmembranei534 – 554Helical; Name=10PROSITE-ProRule annotationAdd BLAST21
Topological domaini555 – 575ExtracellularBy similarityAdd BLAST21
Transmembranei576 – 596Helical; Name=11PROSITE-ProRule annotationAdd BLAST21
Topological domaini597 – 939CytoplasmicBy similarityAdd BLAST343
Transmembranei940 – 960Helical; Name=12PROSITE-ProRule annotationAdd BLAST21
Topological domaini961 – 997ExtracellularBy similarityAdd BLAST37
Transmembranei998 – 1018Helical; Name=13PROSITE-ProRule annotationAdd BLAST21
Topological domaini1019 – 1061CytoplasmicBy similarityAdd BLAST43
Transmembranei1062 – 1082Helical; Name=14PROSITE-ProRule annotationAdd BLAST21
Topological domaini1083ExtracellularBy similarity1
Transmembranei1084 – 1104Helical; Name=15PROSITE-ProRule annotationAdd BLAST21
Topological domaini1105 – 1175CytoplasmicBy similarityAdd BLAST71
Transmembranei1176 – 1196Helical; Name=16PROSITE-ProRule annotationAdd BLAST21
Topological domaini1197 – 1198ExtracellularBy similarity2
Transmembranei1199 – 1219Helical; Name=17PROSITE-ProRule annotationAdd BLAST21
Topological domaini1220 – 1503CytoplasmicBy similarityAdd BLAST284

Keywords - Cellular componenti

Cell membrane, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Pseudoxanthoma elasticum (PXE)15 Publications
The disease is caused by mutations affecting the gene represented in this entry. Homozygous or compound heterozygous ABCC6 mutations have been found in the overwhelming majority of cases. Individuals carrying heterozygous mutations express limited manifestations of the pseudoxanthoma elasticum phenotype.
Disease descriptionA multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings.
See also OMIM:264800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01336360 – 62Missing in PXE; autosomal recessive. 3 Publications3
Natural variantiVAR_06784074Missing in PXE. 1 Publication1
Natural variantiVAR_06784178A → T in PXE. 3 PublicationsCorresponds to variant dbSNP:rs2856597EnsemblClinVar.1
Natural variantiVAR_067842125E → K in PXE; loss-of-function mutation; localization comparable to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs3853814Ensembl.1
Natural variantiVAR_067843129G → E in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653753EnsemblClinVar.1
Natural variantiVAR_067845317S → R in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs78678589EnsemblClinVar.1
Natural variantiVAR_067847363 – 373Missing in PXE. 1 PublicationAdd BLAST11
Natural variantiVAR_013370364T → R in PXE; autosomal recessive. 4 PublicationsCorresponds to variant dbSNP:rs72653759EnsemblClinVar.1
Natural variantiVAR_067848370N → D in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653760EnsemblClinVar.1
Natural variantiVAR_067849382R → W in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653761EnsemblClinVar.1
Natural variantiVAR_067851392K → N in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653763EnsemblClinVar.1
Natural variantiVAR_067852398S → G in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653764EnsemblClinVar.1
Natural variantiVAR_013371411N → K in PXE; autosomal dominant. 2 PublicationsCorresponds to variant dbSNP:rs9930886EnsemblClinVar.1
Natural variantiVAR_067854440C → G in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653766EnsemblClinVar.1
Natural variantiVAR_013372455A → P in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs67996819EnsemblClinVar.1
Natural variantiVAR_067855463L → H in PXE. Corresponds to variant dbSNP:rs72653767EnsemblClinVar.1
Natural variantiVAR_067856495L → H in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs72653769EnsemblClinVar.1
Natural variantiVAR_013374518R → Q in PXE; autosomal recessive. 6 PublicationsCorresponds to variant dbSNP:rs72653772EnsemblClinVar.1
Natural variantiVAR_067858535S → P in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653773EnsemblClinVar.1
Natural variantiVAR_067859551F → S in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653774EnsemblClinVar.1
Natural variantiVAR_013375568F → S in PXE; autosomal dominant. 2 PublicationsCorresponds to variant dbSNP:rs66864704EnsemblClinVar.1
Natural variantiVAR_067861594A → V in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653776EnsemblClinVar.1
Natural variantiVAR_067862600R → C in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs72653777EnsemblClinVar.1
Natural variantiVAR_067863663G → C in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653780EnsemblClinVar.1
Natural variantiVAR_013377673L → P in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs67470842EnsemblClinVar.1
Natural variantiVAR_067864677L → P in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653782EnsemblClinVar.1
Natural variantiVAR_067865698Q → P in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653783EnsemblClinVar.1
Natural variantiVAR_067866699E → D in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653784EnsemblClinVar.1
Natural variantiVAR_067869726L → P in PXE. 2 PublicationsCorresponds to variant dbSNP:rs72653785EnsemblClinVar.1
Natural variantiVAR_067871751M → K in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653786EnsemblClinVar.1
Natural variantiVAR_067872755G → R in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653787EnsemblClinVar.1
Natural variantiVAR_067873760R → W in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs72653788EnsemblClinVar.1
Natural variantiVAR_013378765R → Q in PXE; autosomal dominant and autosomal recessive. 4 PublicationsCorresponds to variant dbSNP:rs67561842EnsemblClinVar.1
Natural variantiVAR_067874766A → D in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653789EnsemblClinVar.1
Natural variantiVAR_067875777D → N in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653790EnsemblClinVar.1
Natural variantiVAR_067876807R → Q in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653794EnsemblClinVar.1
Natural variantiVAR_067877807R → W in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653793EnsemblClinVar.1
Natural variantiVAR_067878810V → M in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653795EnsemblClinVar.1
Natural variantiVAR_067879811T → M in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653796EnsemblClinVar.1
Natural variantiVAR_067880820A → P in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653797EnsemblClinVar.1
Natural variantiVAR_067881881R → S in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653800EnsemblClinVar.1
Natural variantiVAR_067882944T → I in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653801EnsemblClinVar.1
Natural variantiVAR_067884950A → T in PXE. 1 PublicationCorresponds to variant dbSNP:rs72657689EnsemblClinVar.1
Natural variantiVAR_067885992G → R in PXE. 1 PublicationCorresponds to variant dbSNP:rs72657692EnsemblClinVar.1
Natural variantiVAR_0678871048Missing in PXE; autosomal recessive. 1 Publication1
Natural variantiVAR_0678881056D → E in PXE. 1 PublicationCorresponds to variant dbSNP:rs72657694EnsemblClinVar.1
Natural variantiVAR_0114911114R → P in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs63750427EnsemblClinVar.1
Natural variantiVAR_0678911121S → L in PXE. 1 PublicationCorresponds to variant dbSNP:rs63750987EnsemblClinVar.1
Natural variantiVAR_0133801121S → W in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs63750987EnsemblClinVar.1
Natural variantiVAR_0678921130T → M in PXE; autosomal recessive. 3 PublicationsCorresponds to variant dbSNP:rs63750459EnsemblClinVar.1
Natural variantiVAR_0678931133G → A in PXE. 1 PublicationCorresponds to variant dbSNP:rs63750473EnsemblClinVar.1
Natural variantiVAR_0133811138R → P in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs60791294EnsemblClinVar.1
Natural variantiVAR_0114921138R → Q in PXE; autosomal recessive. 6 PublicationsCorresponds to variant dbSNP:rs60791294EnsemblClinVar.1
Natural variantiVAR_0114931138R → W in PXE; autosomal recessive. 3 PublicationsCorresponds to variant dbSNP:rs28939701EnsemblClinVar.1
Natural variantiVAR_0678941139A → T in PXE. 1 PublicationCorresponds to variant dbSNP:rs63750146EnsemblClinVar.1
Natural variantiVAR_0678951164R → Q in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs63750457EnsemblClinVar.1
Natural variantiVAR_0133821203G → D in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs63750607EnsemblClinVar.1
Natural variantiVAR_0678961221R → C in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs63751215EnsemblClinVar.1
Natural variantiVAR_0678981226L → I in PXE. 1 PublicationCorresponds to variant dbSNP:rs63750125EnsemblClinVar.1
Natural variantiVAR_0678991235R → W in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs63750402EnsemblClinVar.1
Natural variantiVAR_0679001238D → H in PXE; pseudodominant. 1 PublicationCorresponds to variant dbSNP:rs63749796EnsemblClinVar.1
Natural variantiVAR_0133841298V → F in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. 3 PublicationsCorresponds to variant dbSNP:rs63751325EnsemblClinVar.1
Natural variantiVAR_0133851301T → I in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs63750494EnsemblClinVar.1
Natural variantiVAR_0133861302G → R in PXE; autosomal dominant and autosomal recessive; abolishes LTC4 and NEM-GS transport. 5 PublicationsCorresponds to variant dbSNP:rs63749856EnsemblClinVar.1
Natural variantiVAR_0133871303A → P in PXE; autosomal dominant and autosomal recessive. 3 PublicationsCorresponds to variant dbSNP:rs63750410EnsemblClinVar.1
Natural variantiVAR_0133881314R → Q in PXE; autosomal dominant and autosomal recessive. 3 PublicationsCorresponds to variant dbSNP:rs63751086EnsemblClinVar.1
Natural variantiVAR_0133891321G → S in PXE; autosomal dominant; abolishes LTC4 and NEM-GS transport. 2 PublicationsCorresponds to variant dbSNP:rs63749823EnsemblClinVar.1
Natural variantiVAR_0679011335L → P in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs63750414EnsemblClinVar.1
Natural variantiVAR_0679021335L → Q in PXE. 1 PublicationCorresponds to variant dbSNP:rs63750414EnsemblClinVar.1
Natural variantiVAR_0133901339R → C in PXE; autosomal recessive. 6 PublicationsCorresponds to variant dbSNP:rs28939702EnsemblClinVar.1
Natural variantiVAR_0679041339R → H in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs63750622EnsemblClinVar.1
Natural variantiVAR_0679031339R → L in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs63750622EnsemblClinVar.1
Natural variantiVAR_0679051346P → S in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs63751112EnsemblClinVar.1
Natural variantiVAR_0133911347Q → H in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs63751111EnsemblClinVar.1
Natural variantiVAR_0133921354G → R in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs63750018EnsemblClinVar.1
Natural variantiVAR_0679061357R → W in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs63750428EnsemblClinVar.1
Natural variantiVAR_0133931361D → N in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs58695352EnsemblClinVar.1
Natural variantiVAR_0679071400E → K in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs63751241EnsemblClinVar.1
Natural variantiVAR_0679081406Q → K in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs387906859EnsemblClinVar.1
Natural variantiVAR_0133941424I → T in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs63750295EnsemblClinVar.1
Natural variantiVAR_0679091459R → C in PXE; putative autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs72547524EnsemblClinVar.1
Arterial calcification of infancy, generalized, 2 (GACI2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure.
See also OMIM:614473
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_067860590S → F in GACI2. 1 PublicationCorresponds to variant dbSNP:rs537233133Ensembl.1
Natural variantiVAR_0678971221R → H in GACI2. 2 PublicationsCorresponds to variant dbSNP:rs63751001EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
368

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
ABCC6

MalaCards human disease database

More...
MalaCardsi
ABCC6
MIMi264800 phenotype
614473 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000091262

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
51608 Generalized arterial calcification of infancy
758 Pseudoxanthoma elasticum

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA58

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2073661

Drug and drug target database

More...
DrugBanki
DB00515 Cisplatin
DB00970 Dactinomycin
DB00694 Daunorubicin
DB00997 Doxorubicin
DB00773 Etoposide
DB00328 Indomethacin
DB01032 Probenecid
DB01138 Sulfinpyrazone
DB00444 Teniposide
DB00570 Vinblastine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ABCC6

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000933661 – 1503Multidrug resistance-associated protein 6Add BLAST1503

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi15N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1286PhosphoserineCombined sources1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O95255

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
O95255

PeptideAtlas

More...
PeptideAtlasi
O95255

PRoteomics IDEntifications database

More...
PRIDEi
O95255

ProteomicsDB human proteome resource

More...
ProteomicsDBi
50749

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
O95255

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
O95255

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in kidney and liver. Very low expression in other tissues.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Isoform 2 is induced by HBV x antigen upon hepatitis B viral infection.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000091262 Expressed in 127 organ(s), highest expression level in liver

CleanEx database of gene expression profiles

More...
CleanExi
HS_ABCC6

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
O95255 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O95255 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038105

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
106863, 5 interactors

Protein interaction database and analysis system

More...
IntActi
O95255, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000205557

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11503
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O95255

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
O95255

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini311 – 593ABC transmembrane type-1 1PROSITE-ProRule annotationAdd BLAST283
Domaini629 – 853ABC transporter 1PROSITE-ProRule annotationAdd BLAST225
Domaini947 – 1228ABC transmembrane type-1 2PROSITE-ProRule annotationAdd BLAST282
Domaini1265 – 1499ABC transporter 2PROSITE-ProRule annotationAdd BLAST235

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0054 Eukaryota
COG1132 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000157145

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG108314

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O95255

KEGG Orthology (KO)

More...
KOi
K05669

Identification of Orthologs from Complete Genome Data

More...
OMAi
LWADDPT

Database of Orthologous Groups

More...
OrthoDBi
EOG091G00IN

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O95255

TreeFam database of animal gene trees

More...
TreeFami
TF105199

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1560.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR011527 ABC1_TM_dom
IPR036640 ABC1_TM_sf
IPR003439 ABC_transporter-like
IPR017871 ABC_transporter_CS
IPR030239 ABCC6
IPR005292 Multidrug-R_assoc
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR24223:SF339 PTHR24223:SF339, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00664 ABC_membrane, 2 hits
PF00005 ABC_tran, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382 AAA, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 2 hits
SSF90123 SSF90123, 2 hits

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00957 MRP_assoc_pro, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50929 ABC_TM1F, 2 hits
PS00211 ABC_TRANSPORTER_1, 2 hits
PS50893 ABC_TRANSPORTER_2, 2 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O95255-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAPAEPCAG QGVWNQTEPE PAATSLLSLC FLRTAGVWVP PMYLWVLGPI
60 70 80 90 100
YLLFIHHHGR GYLRMSPLFK AKMVLGFALI VLCTSSVAVA LWKIQQGTPE
110 120 130 140 150
APEFLIHPTV WLTTMSFAVF LIHTERKKGV QSSGVLFGYW LLCFVLPATN
160 170 180 190 200
AAQQASGAGF QSDPVRHLST YLCLSLVVAQ FVLSCLADQP PFFPEDPQQS
210 220 230 240 250
NPCPETGAAF PSKATFWWVS GLVWRGYRRP LRPKDLWSLG RENSSEELVS
260 270 280 290 300
RLEKEWMRNR SAARRHNKAI AFKRKGGSGM KAPETEPFLR QEGSQWRPLL
310 320 330 340 350
KAIWQVFHST FLLGTLSLII SDVFRFTVPK LLSLFLEFIG DPKPPAWKGY
360 370 380 390 400
LLAVLMFLSA CLQTLFEQQN MYRLKVLQMR LRSAITGLVY RKVLALSSGS
410 420 430 440 450
RKASAVGDVV NLVSVDVQRL TESVLYLNGL WLPLVWIVVC FVYLWQLLGP
460 470 480 490 500
SALTAIAVFL SLLPLNFFIS KKRNHHQEEQ MRQKDSRARL TSSILRNSKT
510 520 530 540 550
IKFHGWEGAF LDRVLGIRGQ ELGALRTSGL LFSVSLVSFQ VSTFLVALVV
560 570 580 590 600
FAVHTLVAEN AMNAEKAFVT LTVLNILNKA QAFLPFSIHS LVQARVSFDR
610 620 630 640 650
LVTFLCLEEV DPGVVDSSSS GSAAGKDCIT IHSATFAWSQ ESPPCLHRIN
660 670 680 690 700
LTVPQGCLLA VVGPVGAGKS SLLSALLGEL SKVEGFVSIE GAVAYVPQEA
710 720 730 740 750
WVQNTSVVEN VCFGQELDPP WLERVLEACA LQPDVDSFPE GIHTSIGEQG
760 770 780 790 800
MNLSGGQKQR LSLARAVYRK AAVYLLDDPL AALDAHVGQH VFNQVIGPGG
810 820 830 840 850
LLQGTTRILV THALHILPQA DWIIVLANGA IAEMGSYQEL LQRKGALMCL
860 870 880 890 900
LDQARQPGDR GEGETEPGTS TKDPRGTSAG RRPELRRERS IKSVPEKDRT
910 920 930 940 950
TSEAQTEVPL DDPDRAGWPA GKDSIQYGRV KATVHLAYLR AVGTPLCLYA
960 970 980 990 1000
LFLFLCQQVA SFCRGYWLSL WADDPAVGGQ QTQAALRGGI FGLLGCLQAI
1010 1020 1030 1040 1050
GLFASMAAVL LGGARASRLL FQRLLWDVVR SPISFFERTP IGHLLNRFSK
1060 1070 1080 1090 1100
ETDTVDVDIP DKLRSLLMYA FGLLEVSLVV AVATPLATVA ILPLFLLYAG
1110 1120 1130 1140 1150
FQSLYVVSSC QLRRLESASY SSVCSHMAET FQGSTVVRAF RTQAPFVAQN
1160 1170 1180 1190 1200
NARVDESQRI SFPRLVADRW LAANVELLGN GLVFAAATCA VLSKAHLSAG
1210 1220 1230 1240 1250
LVGFSVSAAL QVTQTLQWVV RNWTDLENSI VSVERMQDYA WTPKEAPWRL
1260 1270 1280 1290 1300
PTCAAQPPWP QGGQIEFRDF GLRYRPELPL AVQGVSFKIH AGEKVGIVGR
1310 1320 1330 1340 1350
TGAGKSSLAS GLLRLQEAAE GGIWIDGVPI AHVGLHTLRS RISIIPQDPI
1360 1370 1380 1390 1400
LFPGSLRMNL DLLQEHSDEA IWAALETVQL KALVASLPGQ LQYKCADRGE
1410 1420 1430 1440 1450
DLSVGQKQLL CLARALLRKT QILILDEATA AVDPGTELQM QAMLGSWFAQ
1460 1470 1480 1490 1500
CTVLLIAHRL RSVMDCARVL VMDKGQVAES GSPAQLLAQK GLFYRLAQES

GLV
Length:1,503
Mass (Da):164,906
Last modified:November 24, 2009 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2107BE13B1547B39
GO
Isoform 2 (identifier: O95255-2) [UniParc]FASTAAdd to basket
Also known as: URG7

The sequence of this isoform differs from the canonical sequence as follows:
     75-99: LGFALIVLCTSSVAVALWKIQQGTP → AAIPGSLEPGNVRGRQGTGWNLVKS
     100-1503: Missing.

Show »
Length:99
Mass (Da):10,786
Checksum:iB623C274D57FDB1D
GO
Isoform 3 (identifier: O95255-3) [UniParc]FASTAAdd to basket
Also known as: Delta19Delta24

The sequence of this isoform differs from the canonical sequence as follows:
     806-871: TRILVTHALH...EGETEPGTST → KQNLGPAPRT...QERTASNTAG
     872-1503: Missing.

Note: May function as a half transporter.
Show »
Length:871
Mass (Da):95,877
Checksum:i66C9AFB3E01C254C
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PQX7A0A1W2PQX7_HUMAN
Multidrug resistance-associated pro...
ABCC6
441Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1W2PPQ8A0A1W2PPQ8_HUMAN
Multidrug resistance-associated pro...
ABCC6
441Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JMG3A0A0G2JMG3_HUMAN
Multidrug resistance-associated pro...
ABCC6
1,503Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0J9YVW5A0A0J9YVW5_HUMAN
Multidrug resistance-associated pro...
ABCC6
871Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1Z6I3L1Z6_HUMAN
Multidrug resistance-associated pro...
ABCC6
82Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAC15785 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti6E → Q in CAO81806 (PubMed:21318057).Curated1
Sequence conflicti377L → P in AAD51293 (PubMed:10424734).Curated1
Sequence conflicti401R → K in CAO81806 (PubMed:21318057).Curated1
Sequence conflicti986L → P in CAO81806 (PubMed:21318057).Curated1
Sequence conflicti1274Y → C in AAD51293 (PubMed:10424734).Curated1
Sequence conflicti1455L → P in AAD51293 (PubMed:10424734).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0728034P → H Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_0728049A → E Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_07280521P → S Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_01336360 – 62Missing in PXE; autosomal recessive. 3 Publications3
Natural variantiVAR_01336461G → D1 PublicationCorresponds to variant dbSNP:rs72657696EnsemblClinVar.1
Natural variantiVAR_07280664R → Q Found in patient with putative diagnosis of PXE; uncertain pathological significance; localization comparable to wild-type. 1 PublicationCorresponds to variant dbSNP:rs777566074EnsemblClinVar.1
Natural variantiVAR_01336564R → W3 PublicationsCorresponds to variant dbSNP:rs557180313Ensembl.1
Natural variantiVAR_06784074Missing in PXE. 1 Publication1
Natural variantiVAR_06784178A → T in PXE. 3 PublicationsCorresponds to variant dbSNP:rs2856597EnsemblClinVar.1
Natural variantiVAR_07280790A → T Found in patient with putative diagnosis of PXE; uncertain pathological significance. 1 PublicationCorresponds to variant dbSNP:rs957828732EnsemblClinVar.1
Natural variantiVAR_067842125E → K in PXE; loss-of-function mutation; localization comparable to wild-type. 2 PublicationsCorresponds to variant dbSNP:rs3853814Ensembl.1
Natural variantiVAR_067843129G → E in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653753EnsemblClinVar.1
Natural variantiVAR_067844158A → V1 PublicationCorresponds to variant dbSNP:rs2606921EnsemblClinVar.1
Natural variantiVAR_013366207G → R1 PublicationCorresponds to variant dbSNP:rs72657697EnsemblClinVar.1
Natural variantiVAR_013367265R → G4 PublicationsCorresponds to variant dbSNP:rs72657698EnsemblClinVar.1
Natural variantiVAR_013368281K → E2 PublicationsCorresponds to variant dbSNP:rs4780606Ensembl.1
Natural variantiVAR_067845317S → R in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs78678589EnsemblClinVar.1
Natural variantiVAR_013369319I → V3 PublicationsCorresponds to variant dbSNP:rs72657699EnsemblClinVar.1
Natural variantiVAR_067846355L → R in GACI2 and PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs72653758EnsemblClinVar.1
Natural variantiVAR_067847363 – 373Missing in PXE. 1 PublicationAdd BLAST11
Natural variantiVAR_013370364T → R in PXE; autosomal recessive. 4 PublicationsCorresponds to variant dbSNP:rs72653759EnsemblClinVar.1
Natural variantiVAR_067848370N → D in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653760EnsemblClinVar.1
Natural variantiVAR_067849382R → W in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653761EnsemblClinVar.1
Natural variantiVAR_067850391R → G in GACI2 and PXE; autosomal recessive. 4 PublicationsCorresponds to variant dbSNP:rs72653762EnsemblClinVar.1
Natural variantiVAR_067851392K → N in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653763EnsemblClinVar.1
Natural variantiVAR_067852398S → G in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653764EnsemblClinVar.1
Natural variantiVAR_013371411N → K in PXE; autosomal dominant. 2 PublicationsCorresponds to variant dbSNP:rs9930886EnsemblClinVar.1
Natural variantiVAR_067853417V → M1 PublicationCorresponds to variant dbSNP:rs768869262Ensembl.1
Natural variantiVAR_072808419R → Q Found in patient with putative diagnosis of PXE; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 PublicationCorresponds to variant dbSNP:rs772434460EnsemblClinVar.1
Natural variantiVAR_067854440C → G in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653766EnsemblClinVar.1
Natural variantiVAR_013372455A → P in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs67996819EnsemblClinVar.1
Natural variantiVAR_067855463L → H in PXE. Corresponds to variant dbSNP:rs72653767EnsemblClinVar.1
Natural variantiVAR_067856495L → H in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs72653769EnsemblClinVar.1
Natural variantiVAR_013373497N → K1 PublicationCorresponds to variant dbSNP:rs72653770EnsemblClinVar.1
Natural variantiVAR_067857514V → I1 PublicationCorresponds to variant dbSNP:rs59157279EnsemblClinVar.1
Natural variantiVAR_013374518R → Q in PXE; autosomal recessive. 6 PublicationsCorresponds to variant dbSNP:rs72653772EnsemblClinVar.1
Natural variantiVAR_067858535S → P in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653773EnsemblClinVar.1
Natural variantiVAR_067859551F → S in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653774EnsemblClinVar.1
Natural variantiVAR_013375568F → S in PXE; autosomal dominant. 2 PublicationsCorresponds to variant dbSNP:rs66864704EnsemblClinVar.1
Natural variantiVAR_067860590S → F in GACI2. 1 PublicationCorresponds to variant dbSNP:rs537233133Ensembl.1
Natural variantiVAR_067861594A → V in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653776EnsemblClinVar.1
Natural variantiVAR_067862600R → C in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs72653777EnsemblClinVar.1
Natural variantiVAR_072809605L → P Found in patient with putative diagnosis of PEX; uncertain pathological significance; mutant protein is retained in the cytoplasm. 1 PublicationCorresponds to variant dbSNP:rs768271196EnsemblClinVar.1
Natural variantiVAR_011490614V → A6 PublicationsCorresponds to variant dbSNP:rs12931472EnsemblClinVar.1
Natural variantiVAR_013376632H → Q6 PublicationsCorresponds to variant dbSNP:rs8058694EnsemblClinVar.1
Natural variantiVAR_067863663G → C in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653780EnsemblClinVar.1
Natural variantiVAR_055477665V → A. Corresponds to variant dbSNP:rs4341770Ensembl.1
Natural variantiVAR_013377673L → P in PXE; autosomal dominant. 1 PublicationCorresponds to variant dbSNP:rs67470842EnsemblClinVar.1
Natural variantiVAR_067864677L → P in PXE; autosomal recessive. 1 PublicationCorresponds to variant dbSNP:rs72653782EnsemblClinVar.1
Natural variantiVAR_067865698Q → P in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653783EnsemblClinVar.1
Natural variantiVAR_067866699E → D in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653784EnsemblClinVar.1
Natural variantiVAR_072810709E → G Found in patient with putative diagnosis of PEX; uncertain pathological significance; loss-of-function mutation; localization comparable to wild-type. 1 Publication1
Natural variantiVAR_067867724R → K1 PublicationCorresponds to variant dbSNP:rs58073789EnsemblClinVar.1
Natural variantiVAR_067868724R → L1 Publication1
Natural variantiVAR_067869726L → P in PXE. 2 PublicationsCorresponds to variant dbSNP:rs72653785EnsemblClinVar.1
Natural variantiVAR_067870742I → V2 PublicationsCorresponds to variant dbSNP:rs59593133EnsemblClinVar.1
Natural variantiVAR_067871751M → K in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653786EnsemblClinVar.1
Natural variantiVAR_067872755G → R in PXE. 1 PublicationCorresponds to variant dbSNP:rs72653787EnsemblClinVar.1
Natural variantiVAR_067873760R → W in PXE; autosomal recessive. 2 PublicationsCorresponds to variant dbSNP:rs72653788EnsemblClinVar.1
Natural variantiVAR_013378765R → Q in PXE; autosomal dominant and autosomal recessive. 4 Publications