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UniProtKB - P78424 (PO6F2_HUMAN)

Protein

POU domain, class 6, transcription factor 2

Gene

POU6F2

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

Probable transcription factor likely to be involved in early steps in the differentiation of amacrine and ganglion cells. Recognizes and binds to the DNA sequence 5'-ATGCAAAT-3'. Isoform 1 does not bind DNA.

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 bindingi607 – 666HomeoboxPROSITE-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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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 processTranscription, Transcription regulation

<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:
POU domain, class 6, transcription factor 2
Alternative name(s):
Retina-derived POU domain factor 1
Short name:
RPF-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:POU6F2
Synonyms:RPF1
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000106536.19

Human Gene Nomenclature Database

More...HGNCi		HGNC:21694 POU6F2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609062 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P78424

<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

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

Hereditary susceptibility to Wilms tumor 5 (WT5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionPediatric malignancy of kidney and one of the most common solid cancers in childhood.
See also OMIM:601583
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_022419192Q → H in WT5. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		11281

MalaCards human disease database

More...MalaCardsi		POU6F2
MIMi601583 phenotype

Open Targets

More...OpenTargetsi		ENSG00000106536

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

More...Orphaneti		654 Nephroblastoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134969420

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		POU6F2

Domain mapping of disease mutations (DMDM)

More...DMDMi		327478564

<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_00001007621 – 691POU domain, class 6, transcription factor 2Add BLAST691

Proteomic databases

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

More...PaxDbi		P78424

PeptideAtlas

More...PeptideAtlasi		P78424

PRoteomics IDEntifications database

More...PRIDEi		P78424

ProteomicsDB human proteome resource

More...ProteomicsDBi		57623
57624 [P78424-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P78424

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

More...PhosphoSitePlusi		P78424

<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 only within the CNS, where its expression is restricted to the medical habenulla, to a dispersed population of neurons in the dorsal hypothalamus, and to subsets of ganglion and amacrine cells in the retina.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000106536 Expressed in 66 organ(s), highest expression level in anterior cingulate cortex

CleanEx database of gene expression profiles

More...CleanExi		HS_POU6F2

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P78424 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P78424 HS

<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%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		116437, 1 interactor

Protein interaction database and analysis system

More...IntActi		P78424, 141 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000384004

<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

More...ProteinModelPortali		P78424

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

More...SMRi		P78424

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>Domaini476 – 586POU-specificPROSITE-ProRule annotationAdd BLAST111

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 biasi167 – 446Gln-richAdd BLAST280
Compositional biasi197 – 293Pro-richAdd BLAST97
Compositional biasi435 – 461Ser-richAdd BLAST27

<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

Belongs to the POU transcription factor family. Class-6 subfamily.Curated

Keywords - Domaini

Homeobox

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3802 Eukaryota
ENOG410XQ7X LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156175

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG008230

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P78424

KEGG Orthology (KO)

More...KOi		K09368

Identification of Orthologs from Complete Genome Data

More...OMAi		SHPQNQN

Database of Orthologous Groups

More...OrthoDBi		EOG091G04YJ

Database for complete collections of gene phylogenies

More...PhylomeDBi		P78424

TreeFam database of animal gene trees

More...TreeFami		TF350705

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
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
IPR013847 POU
IPR033056 POU6F2
IPR000327 POU_dom

The PANTHER Classification System

More...PANTHERi		PTHR11636:SF68 PTHR11636:SF68, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046 Homeodomain, 1 hit
PF00157 Pou, 2 hits

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00028 POUDOMAIN

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389 HOX, 1 hit
SM00352 POU, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit
PS00035 POU_1, 1 hit
PS00465 POU_2, 1 hit
PS51179 POU_3, 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 (2+)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 2 <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 2 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P78424-1) [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
MSALLQDPMI AGQVSKPLLS VRSEMNAELR GEDKAATSDS ELNEPLLAPV 
        60         70         80         90        100
ESNDSEDTPS KLFGARGNPA LSDPGTPDQH QASQTHPPFP VGPQPLLTAQ 
       110        120        130        140        150
QLASAVAGVM PGGPPALNQP ILIPFNMAGQ LGGQQGLVLT LPTANLTNIQ 
       160        170        180        190        200
GLVAAAAAGG IMTLPLQNLQ ATSSLNSQLQ QLQLQLQQQQ QQQQQQPPPS 
       210        220        230        240        250
TNQHPQPAPQ APSQSQQQPL QPTPPQQPPP ASQQPPAPTS QLQQAPQPQQ 
       260        270        280        290        300
HQPHSHSQNQ NQPSPTQQSS SPPQKPSQSP GHGLPSPLTP PNPLQLVNNP 
       310        320        330        340        350
LASQAAAAAA AMSSIASSQA FGNALSSLQG VTGQLVTNAQ GQIIGTIPLM 
       360        370        380        390        400
PNPGPSSQAA SGTQGLQVQP ITPQLLTNAQ GQIIATVIGN QILPVINTQG 
       410        420        430        440        450
ITLSPIKPGQ QLHQPSQTSV GQAASQGNLL HLAHSQASMS QSPVRQASSS 
       460        470        480        490        500
SSSSSSSSAL SVGQLVSNPQ TAAGEVDGVN LEEIREFAKA FKIRRLSLGL 
       510        520        530        540        550
TQTQVGQALS ATEGPAYSQS AICRHTILRS HFFLPQEAQE NTIASSLTAK 
       560        570        580        590        600
LNPGLLYPAR FEKLDITPKS AQKIKPVLER WMAEAEARHR AGMQNLTEFI 
       610        620        630        640        650
GSEPSKKRKR RTSFTPQALE ILNAHFEKNT HPSGQEMTEI AEKLNYDREV 
       660        670        680        690 
VRVWFCNKRQ ALKNTIKRLK QHEPATAVPL EPLTDSLEEN S
Note: Major isoform.
Length:691
Mass (Da):73,265
Last modified:April 5, 2011 - 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:i3460C858ECBB5535
GO
Isoform 2 (identifier: P78424-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     524-559: Missing.

Show »
Length:655
Mass (Da):69,248
Checksum:iAB9FFB1A958C3978
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
H0YK27H0YK27_HUMAN
POU domain protein
POU6F2
636Annotation 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>
H0YL15H0YL15_HUMAN
POU domain, class 6, transcription ...
POU6F2
403Annotation 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>
H0YKR5H0YKR5_HUMAN
POU domain, class 6, transcription ...
POU6F2
412Annotation 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>
H7C2B2H7C2B2_HUMAN
POU domain, class 6, transcription ...
POU6F2
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>
C9JSC0C9JSC0_HUMAN
POU domain, class 6, transcription ...
POU6F2
144Annotation 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 AAB49727 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence AAB49728 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAS07475 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence EAL23992 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 conflicti196Q → QQ in AAB49727 (PubMed:8601806).Curated1
Sequence conflicti196Q → QQ in AAB49728 (PubMed:8601806).Curated1
Sequence conflicti258Q → H in AAB49727 (PubMed:8601806).Curated1
Sequence conflicti258Q → H in AAB49728 (PubMed:8601806).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022419192Q → H in WT5. 1 Publication1
Natural variantiVAR_028410199P → L. Corresponds to variant dbSNP:rs2074936Ensembl.1
Natural variantiVAR_028411500L → M. Corresponds to variant dbSNP:rs4992268Ensembl.1
Natural variantiVAR_028412639E → K. Corresponds to variant dbSNP:rs7804851Ensembl.1

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_002336524 – 559Missing in isoform 2. 1 PublicationAdd BLAST36

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
U91934 Genomic DNA Translation: AAB49727.1 Sequence problems.
U91935 mRNA Translation: AAB49728.1 Different initiation.
AC005483 Genomic DNA Translation: AAC83404.2
AC073345 Genomic DNA Translation: AAS07475.1 Different initiation.
AC092174 Genomic DNA Translation: AAP21873.1
AC011292 Genomic DNA No translation available.
CH236951 Genomic DNA Translation: EAL23992.1 Sequence problems.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34620.2 [P78424-1]
CCDS55103.1 [P78424-2]

NCBI Reference Sequences

More...RefSeqi		NP_001159490.1, NM_001166018.1 [P78424-2]
NP_009183.3, NM_007252.3 [P78424-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.137106

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000403058; ENSP00000384004; ENSG00000106536 [P78424-1]
ENST00000518318; ENSP00000430514; ENSG00000106536 [P78424-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		11281

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:11281

UCSC genome browser

More...UCSCi		uc003thb.3 human [P78424-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U91934 Genomic DNA Translation: AAB49727.1 Sequence problems.
U91935 mRNA Translation: AAB49728.1 Different initiation.
AC005483 Genomic DNA Translation: AAC83404.2
AC073345 Genomic DNA Translation: AAS07475.1 Different initiation.
AC092174 Genomic DNA Translation: AAP21873.1
AC011292 Genomic DNA No translation available.
CH236951 Genomic DNA Translation: EAL23992.1 Sequence problems.
CCDSiCCDS34620.2 [P78424-1]
CCDS55103.1 [P78424-2]
RefSeqiNP_001159490.1, NM_001166018.1 [P78424-2]
NP_009183.3, NM_007252.3 [P78424-1]
UniGeneiHs.137106

3D structure databases

ProteinModelPortaliP78424
SMRiP78424
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116437, 1 interactor
IntActiP78424, 141 interactors
STRINGi9606.ENSP00000384004

PTM databases

iPTMnetiP78424
PhosphoSitePlusiP78424

Polymorphism and mutation databases

BioMutaiPOU6F2
DMDMi327478564

Proteomic databases

PaxDbiP78424
PeptideAtlasiP78424
PRIDEiP78424
ProteomicsDBi57623
57624 [P78424-2]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		11281
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000403058; ENSP00000384004; ENSG00000106536 [P78424-1]
ENST00000518318; ENSP00000430514; ENSG00000106536 [P78424-2]
GeneIDi11281
KEGGihsa:11281
UCSCiuc003thb.3 human [P78424-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		11281
DisGeNETi11281
EuPathDBiHostDB:ENSG00000106536.19

GeneCards: human genes, protein and diseases

More...GeneCardsi		POU6F2
HGNCiHGNC:21694 POU6F2
MalaCardsiPOU6F2
MIMi601583 phenotype
609062 gene
neXtProtiNX_P78424
OpenTargetsiENSG00000106536
Orphaneti654 Nephroblastoma
PharmGKBiPA134969420

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3802 Eukaryota
ENOG410XQ7X LUCA
GeneTreeiENSGT00940000156175
HOVERGENiHBG008230
InParanoidiP78424
KOiK09368
OMAiSHPQNQN
OrthoDBiEOG091G04YJ
PhylomeDBiP78424
TreeFamiTF350705

Miscellaneous databases

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

More...ChiTaRSi		POU6F2 human

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

More...GenomeRNAii		11281

Protein Ontology

More...PROi		PR:P78424

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000106536 Expressed in 66 organ(s), highest expression level in anterior cingulate cortex
CleanExiHS_POU6F2
ExpressionAtlasiP78424 baseline and differential
GenevisibleiP78424 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001356 Homeobox_dom
IPR010982 Lambda_DNA-bd_dom_sf
IPR013847 POU
IPR033056 POU6F2
IPR000327 POU_dom
PANTHERiPTHR11636:SF68 PTHR11636:SF68, 1 hit
PfamiView protein in Pfam
PF00046 Homeodomain, 1 hit
PF00157 Pou, 2 hits
PRINTSiPR00028 POUDOMAIN
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SM00352 POU, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
SSF47413 SSF47413, 1 hit
PROSITEiView protein in PROSITE
PS50071 HOMEOBOX_2, 1 hit
PS00035 POU_1, 1 hit
PS00465 POU_2, 1 hit
PS51179 POU_3, 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 nameiPO6F2_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: P78424
Secondary accession number(s): A4D1W2
, C4AMB9, P78425, Q75ME8, Q86UM6, Q9UDS7
<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 1, 2003
Last sequence update: April 5, 2011
Last modified: December 5, 2018
This is version 170 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 chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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