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Entry version 150 (08 May 2019)
Sequence version 1 (01 Dec 2001)
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Protein

Retina and anterior neural fold homeobox protein 2

Gene

RAX2

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

May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi27 – 86HomeoboxPROSITE-ProRule annotationAdd BLAST60

<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

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

Molecular functionDNA-binding
Biological processSensory transduction, Transcription, Transcription regulation, Vision

<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:
Retina and anterior neural fold homeobox protein 2
Alternative name(s):
Q50-type retinal homeobox protein
Retina and anterior neural fold homeobox-like protein 1
<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:RAX2
Synonyms:QRX, RAXL1
<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 19

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18286 RAX2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
610362 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96IS3

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<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

Macular degeneration, age-related, 6 (ARMD6)1 Publication
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
See also OMIM:613757
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_03190787R → Q in ARMD6; increased transactivation and DNA-binding activity. 1 PublicationCorresponds to variant dbSNP:rs121908280EnsemblClinVar.1
Cone-rod dystrophy 11 (CORD11)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
See also OMIM:610381
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_031908137G → R in CORD11; decreased interaction with Crx and transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs121908281EnsemblClinVar.1
Natural variantiVAR_031909140P → PGP in CORD11; decreased interaction with Crx and increased transactivation activity. 1

Keywords - Diseasei

Age-related macular degeneration, Cone-rod dystrophy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
84839

MalaCards human disease database

More...
MalaCardsi
RAX2
MIMi610381 phenotype
613757 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000173976

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

More...
Orphaneti
1872 Cone rod dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162400734

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RAX2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74760880

<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_00002850481 – 184Retina and anterior neural fold homeobox protein 2Add BLAST184

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q96IS3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q96IS3

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

More...
PaxDbi
Q96IS3

PeptideAtlas

More...
PeptideAtlasi
Q96IS3

PRoteomics IDEntifications database

More...
PRIDEi
Q96IS3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
76849

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000173976 Expressed in 95 organ(s), highest expression level in tendon of biceps brachii

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q96IS3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA052533

<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

Interacts with CRX.1 Publication

Protein-protein interaction databases

Protein interaction database and analysis system

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IntActi
Q96IS3, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000450456

<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

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

More...
SMRi
Q96IS3

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

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 biasi98 – 140Pro-richAdd BLAST43

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The Homeobox transactivates the Ret-1 element in the presence of CRX and NRL.

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0490 Eukaryota
ENOG410YIJ3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000163572

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231518

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96IS3

KEGG Orthology (KO)

More...
KOi
K09333

Identification of Orthologs from Complete Genome Data

More...
OMAi
GPHAFGP

Database of Orthologous Groups

More...
OrthoDBi
1085093at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q96IS3

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00086 homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR036934 Homeobox_RAX2

The PANTHER Classification System

More...
PANTHERi
PTHR46271:SF2 PTHR46271:SF2, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00046 Homeodomain, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00389 HOX, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46689 SSF46689, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 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>Sequencei

<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.

Q96IS3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFLSPGEGPA TEGGGLGPGE EAPKKKHRRN RTTFTTYQLH QLERAFEASH
60 70 80 90 100
YPDVYSREEL AAKVHLPEVR VQVWFQNRRA KWRRQERLES GSGAVAAPRL
110 120 130 140 150
PEAPALPFAR PPAMSLPLEP WLGPGPPAVP GLPRLLGPGP GLQASFGPHA
160 170 180
FAPTFADGFA LEEASLRLLA KEHAQALDRA WPPA
Length:184
Mass (Da):20,086
Last modified:December 1, 2001 - v1
<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:iDE2FC85C4A4DE063
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03190787R → Q in ARMD6; increased transactivation and DNA-binding activity. 1 PublicationCorresponds to variant dbSNP:rs121908280EnsemblClinVar.1
Natural variantiVAR_031908137G → R in CORD11; decreased interaction with Crx and transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs121908281EnsemblClinVar.1
Natural variantiVAR_031909140P → PGP in CORD11; decreased interaction with Crx and increased transactivation activity. 1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY211277 mRNA Translation: AAP41547.1
AC005777 Genomic DNA No translation available.
BC007284 mRNA Translation: AAH07284.1
BC018709 mRNA Translation: AAH18709.1
BC032512 mRNA Translation: AAH32512.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12112.1

NCBI Reference Sequences

More...
RefSeqi
NP_001306003.1, NM_001319074.1
NP_116142.1, NM_032753.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000555633; ENSP00000450456; ENSG00000173976
ENST00000555978; ENSP00000450687; ENSG00000173976

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
84839

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84839

UCSC genome browser

More...
UCSCi
uc002lyr.4 human

<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
AY211277 mRNA Translation: AAP41547.1
AC005777 Genomic DNA No translation available.
BC007284 mRNA Translation: AAH07284.1
BC018709 mRNA Translation: AAH18709.1
BC032512 mRNA Translation: AAH32512.1
CCDSiCCDS12112.1
RefSeqiNP_001306003.1, NM_001319074.1
NP_116142.1, NM_032753.3

3D structure databases

SMRiQ96IS3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ96IS3, 1 interactor
STRINGi9606.ENSP00000450456

Polymorphism and mutation databases

BioMutaiRAX2
DMDMi74760880

Proteomic databases

EPDiQ96IS3
jPOSTiQ96IS3
PaxDbiQ96IS3
PeptideAtlasiQ96IS3
PRIDEiQ96IS3
ProteomicsDBi76849

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000555633; ENSP00000450456; ENSG00000173976
ENST00000555978; ENSP00000450687; ENSG00000173976
GeneIDi84839
KEGGihsa:84839
UCSCiuc002lyr.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
84839
DisGeNETi84839

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RAX2
HGNCiHGNC:18286 RAX2
HPAiHPA052533
MalaCardsiRAX2
MIMi610362 gene
610381 phenotype
613757 phenotype
neXtProtiNX_Q96IS3
OpenTargetsiENSG00000173976
Orphaneti1872 Cone rod dystrophy
PharmGKBiPA162400734

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00940000163572
HOGENOMiHOG000231518
InParanoidiQ96IS3
KOiK09333
OMAiGPHAFGP
OrthoDBi1085093at2759
PhylomeDBiQ96IS3

Miscellaneous databases

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

More...
ChiTaRSi
RAX2 human

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

More...
GenomeRNAii
84839

Protein Ontology

More...
PROi
PR:Q96IS3

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000173976 Expressed in 95 organ(s), highest expression level in tendon of biceps brachii
GenevisibleiQ96IS3 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR036934 Homeobox_RAX2
PANTHERiPTHR46271:SF2 PTHR46271:SF2, 1 hit
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 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 nameiRAX2_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: Q96IS3
<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: May 1, 2007
Last sequence update: December 1, 2001
Last modified: May 8, 2019
This is version 150 of the entry and version 1 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 chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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