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Protein

Coiled-coil and C2 domain-containing protein 2A

Gene

CC2D2A

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

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling (By similarity).By similarity1 Publication

<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 - 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 processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5620912 Anchoring of the basal body to the plasma membrane

<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:
Coiled-coil and C2 domain-containing protein 2A
<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:CC2D2A
Synonyms:KIAA1345
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000048342.15

Human Gene Nomenclature Database

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HGNCi
HGNC:29253 CC2D2A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612013 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9P2K1

<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

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<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

Meckel syndrome 6 (MKS6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
See also OMIM:612284
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_0622931114T → M in MKS6 and JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs386833752EnsemblClinVar.1
Natural variantiVAR_0775601517T → S in MKS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780673487EnsemblClinVar.1
Joubert syndrome 9 (JBTS9)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
See also OMIM:612285
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076881117S → R in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs186264635EnsemblClinVar.1
Natural variantiVAR_076882507K → E in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144439937EnsemblClinVar.1
Natural variantiVAR_076883559L → P in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs754221308EnsemblClinVar.1
Natural variantiVAR_062804721P → S in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs199768782EnsemblClinVar.1
Natural variantiVAR_0768861045V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225173EnsemblClinVar.1
Natural variantiVAR_0553211096Q → H in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs863225169EnsemblClinVar.1
Natural variantiVAR_0622931114T → M in MKS6 and JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs386833752EnsemblClinVar.1
Natural variantiVAR_0638041116T → M in COACHS and JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs267606709EnsemblClinVar.1
Natural variantiVAR_0553221122P → S in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs118204051EnsemblClinVar.1
Natural variantiVAR_0681691126E → K in JBTS9. 3 PublicationsCorresponds to variant dbSNP:rs1473532901Ensembl.1
Natural variantiVAR_0768871151V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225170EnsemblClinVar.1
Natural variantiVAR_0756981182W → R in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs386833755EnsemblClinVar.1
Natural variantiVAR_0768881284R → C in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs779823379EnsemblClinVar.1
Natural variantiVAR_0768891284R → H in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs754586025Ensembl.1
Natural variantiVAR_0768901330R → Q in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763486732EnsemblClinVar.1
Natural variantiVAR_0768911430V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225168EnsemblClinVar.1
Natural variantiVAR_0675351447E → A in JBTS9; digenic inheritance; the patient also carries mutation C-360 in CEP41. 1 PublicationCorresponds to variant dbSNP:rs387907058EnsemblClinVar.1
Natural variantiVAR_0690451520N → S in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs1478902342Ensembl.1
Natural variantiVAR_0553231528R → C in JBTS9 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs118204052EnsemblClinVar.1
Natural variantiVAR_0553241551L → P in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs763425007Ensembl.1
Natural variantiVAR_0628061556D → V in JBTS9. 5 PublicationsCorresponds to variant dbSNP:rs201502401EnsemblClinVar.1
Natural variantiVAR_0690461568Y → H in JBTS9. 2 Publications1
COACH syndrome (COACHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by mental retardation, ataxia due to cerebellar hypoplasia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable.
See also OMIM:216360
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0638041116T → M in COACHS and JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs267606709EnsemblClinVar.1
Natural variantiVAR_0553231528R → C in JBTS9 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs118204052EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome, Meckel syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
57545

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

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GeneReviewsi
CC2D2A

MalaCards human disease database

More...
MalaCardsi
CC2D2A
MIMi216360 phenotype
612284 phenotype
612285 phenotype

Open Targets

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OpenTargetsi
ENSG00000048342

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

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Orphaneti
1454 Joubert syndrome with hepatic defect
2318 Joubert syndrome with oculorenal defect
564 Meckel syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162381194

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CC2D2A

Domain mapping of disease mutations (DMDM)

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DMDMi
229462975

<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_00003172501 – 1620Coiled-coil and C2 domain-containing protein 2AAdd BLAST1620

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9P2K1

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9P2K1

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9P2K1

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

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PaxDbi
Q9P2K1

PeptideAtlas

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PeptideAtlasi
Q9P2K1

PRoteomics IDEntifications database

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PRIDEi
Q9P2K1

ProteomicsDB human proteome resource

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ProteomicsDBi
83826
83827 [Q9P2K1-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9P2K1

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

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PhosphoSitePlusi
Q9P2K1

<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

Strongly expressed in prostate, pancreas, kidney, lung, liver, retina, kidney, fetal brain and fetal kidney. Lower expression in spleen, small intestine, colon, skeletal muscle, ovary, thymus and heart.2 Publications

<p>This subsection of the ‘Expression’ section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

At Carnagie stage 13 (CS13, after 4 weeks of development) and CS14 CC2D2A is ubiquitously expressed, with a distinct signal in the spinal cord and limb buds. At CS17 CC2D2A continue to be widely expressedin particular throughout the central nervous system (CNS), lung, and digestive tract epithelia. At CS22 expression continues to be intense within the CNS, where strong and specific expression is observed in the eye and in external granular layer of cerebellum. CC2D2A expression is also observed in the costal perichondrium.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000048342 Expressed in 195 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

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CleanExi
HS_CC2D2A

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9P2K1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9P2K1 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA044124

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of the tectonic-like complex (also named B9 complex).By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121603, 36 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9P2K1

Protein interaction database and analysis system

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IntActi
Q9P2K1, 35 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000398391

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9P2K1

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

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SMRi
Q9P2K1

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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>Domaini1062 – 1174C2Add BLAST113

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili439 – 493Sequence analysisAdd BLAST55
Coiled coili532 – 582Sequence analysisAdd BLAST51

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi221 – 229Poly-Glu9
Compositional biasi591 – 596Poly-Lys6
Compositional biasi1491 – 1494Poly-Ala4

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3639 Eukaryota
ENOG410XQVY LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155482

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000068028

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG107545

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9P2K1

KEGG Orthology (KO)

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KOi
K19352

Identification of Orthologs from Complete Genome Data

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OMAi
KYVHRSQ

Database of Orthologous Groups

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OrthoDBi
246535at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9P2K1

TreeFam database of animal gene trees

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TreeFami
TF324786

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000008 C2_dom
IPR028928 CC2D2AN-C2

Pfam protein domain database

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Pfami
View protein in Pfam
PF00168 C2, 1 hit
PF15625 CC2D2AN-C2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00239 C2, 1 hit

<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 (4+)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 4 <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 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9P2K1-4) [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
MNPREEKVKI ITEEFIENDE DADMGRQNKN SKVRRQPRKK QPPTAVPKEM
60 70 80 90 100
VSEKSHLGNP QEPVQEEPKT RLLSMTVRRG PRSLPPIPST SRTGFAEFSM
110 120 130 140 150
RGRMREKLQA ARSKAESALL QEIPTPRPRR LRSPSKKELE TEFGTEPGKE
160 170 180 190 200
VERTQQEVDS QSYSRVKFHD SARKIKPKPQ VPPGFPSAEE AYNFFTFNFD
210 220 230 240 250
PEPEGSEEKP KARHRAGTNQ EEEEGEEEEP PAQGGGKEMD EEELLNGDDA
260 270 280 290 300
EDFLLGLDHV ADDFVAVRPA DYESIHDRLQ MEREMLFIPS RQTVPTYKKL
310 320 330 340 350
PENVQPRFLE DEGLYTGVRP EVARTNQNIM ENRLLMQDPE RRWFGDDGRI
360 370 380 390 400
LALPNPIKPF PSRPPVLTQE QSIKAELETL YKKAVKYVHS SQHVIRSGDP
410 420 430 440 450
PGNFQLDIDI SGLIFTHHPC FSREHVLAAK LAQLYDQYLA RHQRNKAKFL
460 470 480 490 500
TDKLQALRNA VQTGLDPEKP HQSLDTIQKT INEYKSEIRQ TRKFRDAEQE
510 520 530 540 550
KDRTLLKTII KVWKEMKSLR EFQRFTNTPL KLVLRKEKAD QKADEEAYEA
560 570 580 590 600
EIQAEISELL EEHTEEYAQK MEEYRTSLQQ WKAWRKVQRA KKKKRKQAAE
610 620 630 640 650
EHPGDEIAEP YPEEDLVKPS PPEPTDRAVI EQEVRERAAQ SRRRPWEPTL
660 670 680 690 700
VPELSLAGSV TPNDQCPRAE VSRREDVKKR SVYLKVLFNN KEVSRTVSRP
710 720 730 740 750
LGADFRVHFG QIFNLQIVNW PESLTLQVYE TVGHSSPTLL AEVFLPIPET
760 770 780 790 800
TVVTGRAPTE EVEFSSNQHV TLDHEGVGSG VPFSFEADGS NQLTLMTSGK
810 820 830 840 850
VSHSVAWAIG ENGIPLIPPL SQQNIGFRSA LKKADAISSI GTSGLTDMKK
860 870 880 890 900
LAKWAAESKL DPNDPNNAPL MQLISVATSG ESYVPDFFRL EQLQQEFNFV
910 920 930 940 950
SDQELNRSKR FRLLHLRSQE VPEFRNYKQV PVYDREIMEK VFQDYEKRLR
960 970 980 990 1000
DRNVIETKEH IDTHRAIVAK YLQQVRESVI NRFLIAKQYF LLADMIVEEE
1010 1020 1030 1040 1050
VPNISILGLS LFKLAEQKRP LRPRRKGRKK VTAQNLSDGD IKLLVNIVRA
1060 1070 1080 1090 1100
YDIPVRKPAV SKFQQPSRSS RMFSEKHAAS PSTYSPTHNA DYPLGQVLVR
1110 1120 1130 1140 1150
PFVEVSFQRT VCHTTTAEGP NPSWNEELEL PFRAPNGDYS TASLQSVKDV
1160 1170 1180 1190 1200
VFINIFDEVL HDVLEDDRER GSGIHTRIER HWLGCVKMPF STIYFQARID
1210 1220 1230 1240 1250
GTFKIDIPPV LLGYSKERNM ILERGFDSVR SLSEGSYITL FITIEPQLVP
1260 1270 1280 1290 1300
GESIREKFES QEDEKLLQAT EKFQAECALK FPNRQCLTTV IDISGKTVFI
1310 1320 1330 1340 1350
TRYLKPLNPP QELLNVYPNN LQATAELVAR YVSLIPFLPD TVSFGGICDL
1360 1370 1380 1390 1400
WSTSDQFLDL LAGDEEEHAV LLCNYFLSLG KKAWLLMGNA IPEGPTAYVL
1410 1420 1430 1440 1450
TWEQGRYLIW NPCSGHFYGQ FDTFCPLKNV GCLIGPDNIW FNIQRYESPL
1460 1470 1480 1490 1500
RINFDVTRPK LWKSFFSRSL PYPGLSSVQP EELIYQRSDK AAAAELQDRI
1510 1520 1530 1540 1550
EKILKEKIMD WRPRHLTRWN RYCTSTLRHF LPLLEKSQGE DVEDDHRAEL
1560 1570 1580 1590 1600
LKQLGDYRFS GFPLHMPYSE VKPLIDAVYS TGVHNIDVPN VEFALAVYIH
1610 1620
PYPKNVLSVW IYVASLIRNR
Length:1,620
Mass (Da):186,185
Last modified:May 5, 2009 - v3
<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:i1AF2635A40B3EF4A
GO
Isoform 2 (identifier: Q9P2K1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.
     1199-1257: Missing.

Show »
Length:1,512
Mass (Da):173,745
Checksum:iDB31752F9CCB30D1
GO
Isoform 3 (identifier: Q9P2K1-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     42-122: PPTAVPKEMV...SKAESALLQE → KPTPFSRACW...PERPTERAGC
     123-1620: Missing.

Note: No experimental confirmation available.
Show »
Length:122
Mass (Da):13,641
Checksum:iBA4863761435AD18
GO
Isoform 4 (identifier: Q9P2K1-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     83-111: SLPPIPSTSRTGFAEFSMRGRMREKLQAA → RELVVKKSLGRPGTVTHVCNPSTLEGRGG
     112-1620: Missing.

Note: No experimental confirmation available.
Show »
Length:111
Mass (Da):12,607
Checksum:i72DDE380EFA07F1A
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 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y941H0Y941_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
903Annotation 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>
D6R9V3D6R9V3_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
588Annotation 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>
A0A140T8Y7A0A140T8Y7_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
1,453Annotation 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>
A0A0J9YXT3A0A0J9YXT3_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
142Annotation 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>
A0A0J9YY35A0A0J9YY35_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
129Annotation 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>
A0A0M3HER0A0A0M3HER0_HUMAN
Coiled-coil and C2 domain-containin...
CC2D2A
73Annotation 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 AAI03711 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA92583 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14710 differs from that shown. Aberrant splicing.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 conflicti524R → S in AAI03711 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076881117S → R in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs186264635EnsemblClinVar.1
Natural variantiVAR_038489376E → A. Corresponds to variant dbSNP:rs16892095EnsemblClinVar.1
Natural variantiVAR_076882507K → E in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs144439937EnsemblClinVar.1
Natural variantiVAR_076883559L → P in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs754221308EnsemblClinVar.1
Natural variantiVAR_038490660V → I1 PublicationCorresponds to variant dbSNP:rs16892134EnsemblClinVar.1
Natural variantiVAR_076884684L → I1 PublicationCorresponds to variant dbSNP:rs190698163EnsemblClinVar.1
Natural variantiVAR_076885701L → V1 PublicationCorresponds to variant dbSNP:rs537906621Ensembl.1
Natural variantiVAR_062804721P → S in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs199768782EnsemblClinVar.1
Natural variantiVAR_062805800K → E1 PublicationCorresponds to variant dbSNP:rs751256652Ensembl.1
Natural variantiVAR_0768861045V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225173EnsemblClinVar.1
Natural variantiVAR_0553211096Q → H in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs863225169EnsemblClinVar.1
Natural variantiVAR_0622931114T → M in MKS6 and JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs386833752EnsemblClinVar.1
Natural variantiVAR_0638041116T → M in COACHS and JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs267606709EnsemblClinVar.1
Natural variantiVAR_0553221122P → S in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs118204051EnsemblClinVar.1
Natural variantiVAR_0681691126E → K in JBTS9. 3 PublicationsCorresponds to variant dbSNP:rs1473532901Ensembl.1
Natural variantiVAR_0768871151V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225170EnsemblClinVar.1
Natural variantiVAR_0756981182W → R in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs386833755EnsemblClinVar.1
Natural variantiVAR_0768881284R → C in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs779823379EnsemblClinVar.1
Natural variantiVAR_0768891284R → H in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs754586025Ensembl.1
Natural variantiVAR_0768901330R → Q in JBTS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs763486732EnsemblClinVar.1
Natural variantiVAR_0768911430V → A in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs863225168EnsemblClinVar.1
Natural variantiVAR_0675351447E → A in JBTS9; digenic inheritance; the patient also carries mutation C-360 in CEP41. 1 PublicationCorresponds to variant dbSNP:rs387907058EnsemblClinVar.1
Natural variantiVAR_0775601517T → S in MKS6; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780673487EnsemblClinVar.1
Natural variantiVAR_0690451520N → S in JBTS9. 2 PublicationsCorresponds to variant dbSNP:rs1478902342Ensembl.1
Natural variantiVAR_0553231528R → C in JBTS9 and COACHS. 3 PublicationsCorresponds to variant dbSNP:rs118204052EnsemblClinVar.1
Natural variantiVAR_0553241551L → P in JBTS9. 1 PublicationCorresponds to variant dbSNP:rs763425007Ensembl.1
Natural variantiVAR_0628061556D → V in JBTS9. 5 PublicationsCorresponds to variant dbSNP:rs201502401EnsemblClinVar.1
Natural variantiVAR_0690461568Y → H in JBTS9. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0309231 – 49Missing in isoform 2. 2 PublicationsAdd BLAST49
Alternative sequenceiVSP_04525542 – 122PPTAV…ALLQE → KPTPFSRACWQILPHLSAGV PLLGWEHPVQGKSFQATNCC PQGNGVRKIPPWQPPGACAG GAQDPPPEYDSPERPTERAG C in isoform 3. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_04545383 – 111SLPPI…KLQAA → RELVVKKSLGRPGTVTHVCN PSTLEGRGG in isoform 4. 1 PublicationAdd BLAST29
Alternative sequenceiVSP_045454112 – 1620Missing in isoform 4. 1 PublicationAdd BLAST1509
Alternative sequenceiVSP_045256123 – 1620Missing in isoform 3. 1 PublicationAdd BLAST1498
Alternative sequenceiVSP_0372231199 – 1257Missing in isoform 2. 2 PublicationsAdd BLAST59

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
EU450799 mRNA Translation: ACC96081.1
AB037766 mRNA Translation: BAA92583.1 Different initiation.
AC007016 Genomic DNA No translation available.
AC116651 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW92734.1
BC053865 mRNA No translation available.
BC070395 mRNA No translation available.
BC103710 mRNA Translation: AAI03711.1 Sequence problems.
AK023876 mRNA Translation: BAB14710.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47026.1 [Q9P2K1-4]
CCDS47027.2 [Q9P2K1-5]
CCDS54744.1 [Q9P2K1-6]

NCBI Reference Sequences

More...
RefSeqi
NP_001073991.2, NM_001080522.2 [Q9P2K1-4]
NP_001158192.1, NM_001164720.1 [Q9P2K1-6]
NP_065836.2, NM_020785.2 [Q9P2K1-5]
XP_005248234.1, XM_005248177.1 [Q9P2K1-4]
XP_011512176.1, XM_011513874.2 [Q9P2K1-6]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.590928

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000424120; ENSP00000403465; ENSG00000048342 [Q9P2K1-4]
ENST00000438599; ENSP00000401154; ENSG00000048342 [Q9P2K1-5]
ENST00000503292; ENSP00000421809; ENSG00000048342 [Q9P2K1-4]
ENST00000503658; ENSP00000426846; ENSG00000048342 [Q9P2K1-5]
ENST00000507954; ENSP00000427221; ENSG00000048342 [Q9P2K1-6]
ENST00000515124; ENSP00000424368; ENSG00000048342 [Q9P2K1-6]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
57545

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:57545

UCSC genome browser

More...
UCSCi
uc003gnq.5 human [Q9P2K1-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU450799 mRNA Translation: ACC96081.1
AB037766 mRNA Translation: BAA92583.1 Different initiation.
AC007016 Genomic DNA No translation available.
AC116651 Genomic DNA No translation available.
CH471069 Genomic DNA Translation: EAW92734.1
BC053865 mRNA No translation available.
BC070395 mRNA No translation available.
BC103710 mRNA Translation: AAI03711.1 Sequence problems.
AK023876 mRNA Translation: BAB14710.1 Sequence problems.
CCDSiCCDS47026.1 [Q9P2K1-4]
CCDS47027.2 [Q9P2K1-5]
CCDS54744.1 [Q9P2K1-6]
RefSeqiNP_001073991.2, NM_001080522.2 [Q9P2K1-4]
NP_001158192.1, NM_001164720.1 [Q9P2K1-6]
NP_065836.2, NM_020785.2 [Q9P2K1-5]
XP_005248234.1, XM_005248177.1 [Q9P2K1-4]
XP_011512176.1, XM_011513874.2 [Q9P2K1-6]
UniGeneiHs.590928

3D structure databases

ProteinModelPortaliQ9P2K1
SMRiQ9P2K1
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121603, 36 interactors
CORUMiQ9P2K1
IntActiQ9P2K1, 35 interactors
STRINGi9606.ENSP00000398391

PTM databases

iPTMnetiQ9P2K1
PhosphoSitePlusiQ9P2K1

Polymorphism and mutation databases

BioMutaiCC2D2A
DMDMi229462975

Proteomic databases

EPDiQ9P2K1
jPOSTiQ9P2K1
MaxQBiQ9P2K1
PaxDbiQ9P2K1
PeptideAtlasiQ9P2K1
PRIDEiQ9P2K1
ProteomicsDBi83826
83827 [Q9P2K1-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000424120; ENSP00000403465; ENSG00000048342 [Q9P2K1-4]
ENST00000438599; ENSP00000401154; ENSG00000048342 [Q9P2K1-5]
ENST00000503292; ENSP00000421809; ENSG00000048342 [Q9P2K1-4]
ENST00000503658; ENSP00000426846; ENSG00000048342 [Q9P2K1-5]
ENST00000507954; ENSP00000427221; ENSG00000048342 [Q9P2K1-6]
ENST00000515124; ENSP00000424368; ENSG00000048342 [Q9P2K1-6]
GeneIDi57545
KEGGihsa:57545
UCSCiuc003gnq.5 human [Q9P2K1-4]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
57545
DisGeNETi57545
EuPathDBiHostDB:ENSG00000048342.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CC2D2A
GeneReviewsiCC2D2A
HGNCiHGNC:29253 CC2D2A
HPAiHPA044124
MalaCardsiCC2D2A
MIMi216360 phenotype
612013 gene
612284 phenotype
612285 phenotype
neXtProtiNX_Q9P2K1
OpenTargetsiENSG00000048342
Orphaneti1454 Joubert syndrome with hepatic defect
2318 Joubert syndrome with oculorenal defect
564 Meckel syndrome
PharmGKBiPA162381194

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3639 Eukaryota
ENOG410XQVY LUCA
GeneTreeiENSGT00940000155482
HOGENOMiHOG000068028
HOVERGENiHBG107545
InParanoidiQ9P2K1
KOiK19352
OMAiKYVHRSQ
OrthoDBi246535at2759
PhylomeDBiQ9P2K1
TreeFamiTF324786

Enzyme and pathway databases

ReactomeiR-HSA-5620912 Anchoring of the basal body to the plasma membrane

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
CC2D2A human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CC2D2A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
57545

Protein Ontology

More...
PROi
PR:Q9P2K1

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000048342 Expressed in 195 organ(s), highest expression level in right uterine tube
CleanExiHS_CC2D2A
ExpressionAtlasiQ9P2K1 baseline and differential
GenevisibleiQ9P2K1 HS

Family and domain databases

InterProiView protein in InterPro
IPR000008 C2_dom
IPR028928 CC2D2AN-C2
PfamiView protein in Pfam
PF00168 C2, 1 hit
PF15625 CC2D2AN-C2, 1 hit
SMARTiView protein in SMART
SM00239 C2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiC2D2A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9P2K1
Secondary accession number(s): A6ND97
, B3FW08, D6RB72, E7EP21, E9PEV5, Q3SYP3, Q9H8A7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: May 5, 2009
Last modified: January 16, 2019
This is version 125 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
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