Skip Header

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

UniProtKB - P78424 (PO6F2_HUMAN)

Entry version 181 (12 Aug 2020)
Sequence version 3 (05 Apr 2011)
Previous versions | rss
Help videoAdd a publicationFeedback
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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P78424

<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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 & 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

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.
Related information in OMIM
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

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P78424, Tbio

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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001007621 – 691POU domain, class 6, transcription factor 2Add BLAST691

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P78424

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: a multi-organism proteome resource

More...ProteomicsDBi		57623 [P78424-1]
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 sural nerve and 88 other tissues

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

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000106536, Tissue enhanced (brain, pancreas)

<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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

P78424
With#Exp.IntAct
ACTN3 [Q08043]3EBI-12029004,EBI-2880652
AGR2 [O95994]3EBI-12029004,EBI-712648
ANKRD10 - isoform 2 [Q9NXR5-2]3EBI-12029004,EBI-12102070
ARHGEF6 [Q15052]3EBI-12029004,EBI-1642523
ASB13 - isoform 2 [Q8WXK3-2]3EBI-12029004,EBI-12015080
BANP - isoform 2 [Q8N9N5-2]3EBI-12029004,EBI-11524452
BFSP2 [Q13515]3EBI-12029004,EBI-10229433
BHLHE40 [O14503]3EBI-12029004,EBI-711810
C1orf109 [Q9NX04]3EBI-12029004,EBI-8643161
C5 [P01031]3EBI-12029004,EBI-8558308
CCHCR1 - isoform 3 [Q8TD31-3]3EBI-12029004,EBI-10175300
CCNC [P24863]3EBI-12029004,EBI-395261
CCNK - isoform 2 [O75909-2]3EBI-12029004,EBI-12010594
CDC23 [Q9UJX2]3EBI-12029004,EBI-396137
CDC37 [Q16543]3EBI-12029004,EBI-295634
CDKN2C [P42773]3EBI-12029004,EBI-711290
CHAF1A [Q13111]3EBI-12029004,EBI-1020839
CIB3 [Q96Q77]3EBI-12029004,EBI-10292696
CINP [Q9BW66]3EBI-12029004,EBI-739784
CSNK2A1 [P68400]3EBI-12029004,EBI-347804
CSTF2 [P33240]3EBI-12029004,EBI-711360
CTNNA3 - isoform 2 [Q9UI47-2]3EBI-12029004,EBI-11962928
DDX6 [P26196]3EBI-12029004,EBI-351257
DTNB - isoform 5 [O60941-5]3EBI-12029004,EBI-11984733
DYDC1 [Q8WWB3]3EBI-12029004,EBI-740680
EBF1 [Q9UH73]3EBI-12029004,EBI-765426
EIF3F [O00303]6EBI-12029004,EBI-711990
EIF4EBP1 [Q13541]3EBI-12029004,EBI-74090
EPHB6 - isoform 2 [O15197-2]3EBI-12029004,EBI-10182490
FHL2 [Q14192]3EBI-12029004,EBI-701903
FNDC3B - isoform 3 [Q53EP0-3]3EBI-12029004,EBI-10242151
FOSB [P53539]5EBI-12029004,EBI-2806743
GCM2 [O75603]3EBI-12029004,EBI-10188645
GLIS2 [Q9BZE0]3EBI-12029004,EBI-7251368
GMEB2 [Q9UKD1]3EBI-12029004,EBI-948296
GOLGA6L9 [A6NEM1]3EBI-12029004,EBI-5916454
hCG_1987119 [A0A024R8L2]3EBI-12029004,EBI-14103818
hCG_2042749 [A0A024R4Z4]3EBI-12029004,EBI-14231181
HGS [O14964]3EBI-12029004,EBI-740220
HNF1B [P35680]3EBI-12029004,EBI-2798841
HOXC5 [Q00444]3EBI-12029004,EBI-11955357
HOXC8 [P31273]3EBI-12029004,EBI-1752118
HSPA4 [P34932]3EBI-12029004,EBI-356933
IGFN1 - isoform 5 [Q86VF2-5]3EBI-12029004,EBI-11955401
IMPDH2 [P12268]3EBI-12029004,EBI-353389
IQUB [Q8NA54]3EBI-12029004,EBI-10220600
IRX4 [P78413]3EBI-12029004,EBI-12073510
ISX [Q2M1V0]3EBI-12029004,EBI-6426064
KDF1 [Q8NAX2]3EBI-12029004,EBI-11997992
KIF5B [P33176]3EBI-12029004,EBI-355878
KLHL11 [Q9NVR0]3EBI-12029004,EBI-2691832
KPNA6 [O60684]3EBI-12029004,EBI-359923
KRTAP8-1 [Q8IUC2]3EBI-12029004,EBI-10261141
L3MBTL2 [Q969R5]3EBI-12029004,EBI-739909
LARP4 [Q6P4E2]3EBI-12029004,EBI-12079790
LMNB2 [Q03252]3EBI-12029004,EBI-2830427
LMO3 - isoform 4 [Q8TAP4-4]3EBI-12029004,EBI-11742507
LNX1 [Q8TBB1]3EBI-12029004,EBI-739832
LONRF1 [Q17RB8]3EBI-12029004,EBI-2341787
MAGEA12 [P43365]3EBI-12029004,EBI-749530
MAPK9 [P45984]3EBI-12029004,EBI-713568
MEIS2 - isoform 4 [O14770-4]3EBI-12029004,EBI-8025850
MIEN1 [Q9BRT3]3EBI-12029004,EBI-6137472
MLLT10 - isoform 2 [P55197-2]3EBI-12029004,EBI-12853322
MORF4L2 [Q15014]3EBI-12029004,EBI-399257
MSRB3 - isoform 2 [Q8IXL7-2]3EBI-12029004,EBI-10699187
MSX2 [P35548]3EBI-12029004,EBI-6447480
MYL7 [Q01449]3EBI-12029004,EBI-10222416
NEUROG3 [Q9Y4Z2]3EBI-12029004,EBI-10328570
NFYC - isoform 1 [Q13952-2]3EBI-12029004,EBI-11956831
NKX3-2 [P78367]3EBI-12029004,EBI-12077522
NME7 [Q9Y5B8]3EBI-12029004,EBI-744782
NUP62CL [Q9H1M0]3EBI-12029004,EBI-751933
OAZ3 - isoform 2 [Q9UMX2-2]3EBI-12029004,EBI-12049527
OIP5 [O43482]3EBI-12029004,EBI-536879
OPLAH [O14841]3EBI-12029004,EBI-3938544
OPTN [Q96CV9]3EBI-12029004,EBI-748974
PADI4 [Q9UM07]3EBI-12029004,EBI-1042511
PARVG [Q9HBI0]3EBI-12029004,EBI-3921217
PDE6H [Q13956]3EBI-12029004,EBI-10231995
PIBF1 [Q4G0R1]3EBI-12029004,EBI-14066006
PKN1 [Q16512]3EBI-12029004,EBI-602382
PLAAT1 [Q9HDD0]3EBI-12029004,EBI-12387058
PM20D2 [Q8IYS1]3EBI-12029004,EBI-11339910
POLR3C [Q9BUI4]3EBI-12029004,EBI-5452779
POU2F1 - isoform 6 [P14859-6]3EBI-12029004,EBI-11526590
PPIL1 [Q9Y3C6]3EBI-12029004,EBI-2557649
PPIP5K2 - isoform 2 [O43314-2]3EBI-12029004,EBI-12906508
PROP1 [O75360]3EBI-12029004,EBI-9027467
PRR20D [P86480]3EBI-12029004,EBI-12754095
QRICH1 [Q2TAL8]3EBI-12029004,EBI-2798044
RAD23B [P54727]3EBI-12029004,EBI-954531
RBM39 [Q14498]3EBI-12029004,EBI-395290
RBPMS - isoform C [Q93062-3]3EBI-12029004,EBI-740343
RELA [Q96CP1]3EBI-12029004,EBI-10489476
SIX1 [Q15475]3EBI-12029004,EBI-743675
SMAD5 [Q99717]3EBI-12029004,EBI-6391136
SMYD1 [Q8NB12]3EBI-12029004,EBI-8463848
SORL1 [Q92673]3EBI-12029004,EBI-1171329
SOX10 [P56693]3EBI-12029004,EBI-1167533
SSUH2 - isoform 2 [Q9Y2M2-2]3EBI-12029004,EBI-12231891
STAC [Q99469]3EBI-12029004,EBI-2652799
STRA8 [Q7Z7C7]3EBI-12029004,EBI-12036261
TBX6 [O95947]3EBI-12029004,EBI-2824328
TCEA2 [Q15560]3EBI-12029004,EBI-710310
TENT5B [Q96A09]3EBI-12029004,EBI-752030
THADA - isoform 6 [Q6YHU6-6]3EBI-12029004,EBI-12232803
THAP1 [Q9NVV9]3EBI-12029004,EBI-741515
TLX2 [O43763]3EBI-12029004,EBI-6101484
TLX3 [O43711]3EBI-12029004,EBI-3939165
TNPO2 - isoform 2 [O14787-2]3EBI-12029004,EBI-12076664
TNXB - isoform 3 [P22105-1]3EBI-12029004,EBI-20753895
TP53BP1 [Q12888]3EBI-12029004,EBI-396540
TRIM74 - isoform 2 [Q86UV6-2]3EBI-12029004,EBI-10259086
TRIML2 [Q8N7C3]3EBI-12029004,EBI-11059915
TSC1 [Q86WV8]5EBI-12029004,EBI-12806590
TSEN15 [Q8WW01]3EBI-12029004,EBI-372432
TTC19 [Q6DKK2]3EBI-12029004,EBI-948354
TTC23 - isoform 3 [Q5W5X9-3]3EBI-12029004,EBI-9090990
UBAC1 [Q9BSL1]3EBI-12029004,EBI-749370
UFSP1 [Q6NVU6]3EBI-12029004,EBI-12068150
VAX2 [Q9UIW0]3EBI-12029004,EBI-12090999
VENTX [O95231]3EBI-12029004,EBI-10191303
VEZF1 [Q14119]3EBI-12029004,EBI-11980193
VPS9D1 [Q9Y2B5]3EBI-12029004,EBI-9031083
XPOT [O43592]3EBI-12029004,EBI-286683
ZBTB24 [O43167]3EBI-12029004,EBI-744471
ZBTB4 [Q9P1Z0]3EBI-12029004,EBI-2564133
ZFHX2 [A2RRC6]3EBI-12029004,EBI-11994144
ZFHX3 - isoform B [Q15911-2]3EBI-12029004,EBI-10237226
ZFP1 [Q6P2D0]3EBI-12029004,EBI-2555749
ZIM2 [Q9NZV7]3EBI-12029004,EBI-11962760
ZMYND12 [Q9H0C1]3EBI-12029004,EBI-12030590
ZNF148 - isoform 2 [Q9UQR1-2]3EBI-12029004,EBI-11742222
ZNF319 [Q9P2F9]3EBI-12029004,EBI-11993110
ZNF410 - isoform 3 [Q86VK4-3]3EBI-12029004,EBI-11741890
ZNF574 - isoform 2 [Q6ZN55-2]3EBI-12029004,EBI-17189720

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, 137 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000384004

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P78424, protein

<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%5Fand%5Fdomains%5Fsection">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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156175

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_013065_6_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P78424

KEGG Orthology (KO)

More...KOi		K09368

Identification of Orthologs from Complete Genome Data

More...OMAi		QPDLGMA

Database of Orthologous Groups

More...OrthoDBi		474850at2759

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 3 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
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>
A0A669KBB9A0A669KBB9_HUMAN
POU domain, class 6, transcription ...
POU6F2
36Annotation 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>
A0A6E1XZL4A0A6E1XZL4_HUMAN
POU domain, class 6, transcription ...
POU6F2
720Annotation 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. Truncated N-terminus.Curated
The sequence AAS07475 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.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.<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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

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%5Freferences%5Fsection">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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi116437, 1 interactor
IntActiP78424, 137 interactors
STRINGi9606.ENSP00000384004

PTM databases

iPTMnetiP78424
PhosphoSitePlusiP78424

Polymorphism and mutation databases

BioMutaiPOU6F2
DMDMi327478564

Proteomic databases

MassIVEiP78424
PaxDbiP78424
PeptideAtlasiP78424
PRIDEiP78424
ProteomicsDBi57623 [P78424-1]
57624 [P78424-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1767, 205 antibodies

The DNASU plasmid repository

More...DNASUi		11281

Genome annotation databases

EnsembliENST00000403058; ENSP00000384004; ENSG00000106536 [P78424-1]
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
HPAiENSG00000106536, Tissue enhanced (brain, pancreas)
MalaCardsiPOU6F2
MIMi601583, phenotype
609062, gene
neXtProtiNX_P78424
OpenTargetsiENSG00000106536
Orphaneti654, Nephroblastoma
PharmGKBiPA134969420

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3802, Eukaryota
GeneTreeiENSGT00940000156175
HOGENOMiCLU_013065_6_1_1
InParanoidiP78424
KOiK09368
OMAiQPDLGMA
OrthoDBi474850at2759
PhylomeDBiP78424
TreeFamiTF350705

Enzyme and pathway databases

PathwayCommonsiP78424

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		11281, 3 hits in 894 CRISPR screens

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
PharosiP78424, Tbio

Protein Ontology

More...PROi		PR:P78424
RNActiP78424, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000106536, Expressed in sural nerve and 88 other tissues
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...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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%5Fand%5Fisoforms">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: August 12, 2020
This is version 181 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

Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again