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Protein

POU domain, class 6, transcription factor 2

Gene

POU6F2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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
DNA bindingi607 – 666HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

  • DNA binding Source: UniProtKB-KW
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  • central nervous system development Source: ProtInc
  • ganglion mother cell fate determination Source: ProtInc
  • regulation of transcription, DNA-templated Source: UniProtKB
  • transcription from RNA polymerase II promoter Source: ProtInc
  • visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
POU domain, class 6, transcription factor 2
Alternative name(s):
Retina-derived POU domain factor 1
Short name:
RPF-1
Gene namesi
Name:POU6F2
Synonyms:RPF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:21694. POU6F2.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

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
Natural variantiVAR_022419192Q → H in WT5. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi11281.
MalaCardsiPOU6F2.
MIMi601583. phenotype.
OpenTargetsiENSG00000106536.
Orphaneti654. Nephroblastoma.
PharmGKBiPA134969420.

Polymorphism and mutation databases

BioMutaiPOU6F2.
DMDMi327478564.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001007621 – 691POU domain, class 6, transcription factor 2Add BLAST691

Proteomic databases

PaxDbiP78424.
PeptideAtlasiP78424.
PRIDEiP78424.

PTM databases

iPTMnetiP78424.
PhosphoSitePlusiP78424.

Expressioni

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

BgeeiENSG00000106536.
CleanExiHS_POU6F2.
ExpressionAtlasiP78424. baseline and differential.
GenevisibleiP78424. HS.

Organism-specific databases

HPAiHPA008699.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
FHL2J3KNW44EBI-12029004,EBI-11994324

Protein-protein interaction databases

IntActiP78424. 127 interactors.
STRINGi9606.ENSP00000384004.

Structurei

3D structure databases

ProteinModelPortaliP78424.
SMRiP78424.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini476 – 586POU-specificPROSITE-ProRule annotationAdd BLAST111

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi167 – 446Gln-richAdd BLAST280
Compositional biasi197 – 293Pro-richAdd BLAST97
Compositional biasi435 – 461Ser-richAdd BLAST27

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation
Contains 1 POU-specific domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG3802. Eukaryota.
ENOG410XQ7X. LUCA.
GeneTreeiENSGT00760000118935.
HOVERGENiHBG008230.
InParanoidiP78424.
KOiK09368.
OMAiLKQHEPT.
OrthoDBiEOG091G04YJ.
PhylomeDBiP78424.
TreeFamiTF350705.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 2 hits.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR033056. POU6F2.
IPR000327. POU_dom.
[Graphical view]
PANTHERiPTHR11636:SF68. PTHR11636:SF68. 3 hits.
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 2 hits.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 2 hits.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

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
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 rs2074936dbSNPEnsembl.1
Natural variantiVAR_028411500L → M.Corresponds to variant rs4992268dbSNPEnsembl.1
Natural variantiVAR_028412639E → K.Corresponds to variant rs7804851dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_002336524 – 559Missing in isoform 2. 1 PublicationAdd BLAST36

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.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

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

IntActiP78424. 127 interactors.
STRINGi9606.ENSP00000384004.

PTM databases

iPTMnetiP78424.
PhosphoSitePlusiP78424.

Polymorphism and mutation databases

BioMutaiPOU6F2.
DMDMi327478564.

Proteomic databases

PaxDbiP78424.
PeptideAtlasiP78424.
PRIDEiP78424.

Protocols and materials databases

DNASUi11281.
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

CTDi11281.
DisGeNETi11281.
GeneCardsiPOU6F2.
HGNCiHGNC:21694. POU6F2.
HPAiHPA008699.
MalaCardsiPOU6F2.
MIMi601583. phenotype.
609062. gene.
neXtProtiNX_P78424.
OpenTargetsiENSG00000106536.
Orphaneti654. Nephroblastoma.
PharmGKBiPA134969420.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3802. Eukaryota.
ENOG410XQ7X. LUCA.
GeneTreeiENSGT00760000118935.
HOVERGENiHBG008230.
InParanoidiP78424.
KOiK09368.
OMAiLKQHEPT.
OrthoDBiEOG091G04YJ.
PhylomeDBiP78424.
TreeFamiTF350705.

Miscellaneous databases

ChiTaRSiPOU6F2. human.
GenomeRNAii11281.
PROiP78424.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106536.
CleanExiHS_POU6F2.
ExpressionAtlasiP78424. baseline and differential.
GenevisibleiP78424. HS.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
1.10.260.40. 2 hits.
InterProiIPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR010982. Lambda_DNA-bd_dom.
IPR013847. POU.
IPR033056. POU6F2.
IPR000327. POU_dom.
[Graphical view]
PANTHERiPTHR11636:SF68. PTHR11636:SF68. 3 hits.
PfamiPF00046. Homeobox. 1 hit.
PF00157. Pou. 2 hits.
[Graphical view]
PRINTSiPR00028. POUDOMAIN.
SMARTiSM00389. HOX. 1 hit.
SM00352. POU. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
SSF47413. SSF47413. 2 hits.
PROSITEiPS50071. HOMEOBOX_2. 1 hit.
PS00035. POU_1. 1 hit.
PS00465. POU_2. 1 hit.
PS51179. POU_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPO6F2_HUMAN
AccessioniPrimary (citable) accession number: P78424
Secondary accession number(s): A4D1W2
, C4AMB9, P78425, Q75ME8, Q86UM6, Q9UDS7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2003
Last sequence update: April 5, 2011
Last modified: November 30, 2016
This is version 151 of the entry and version 3 of the sequence. [Complete history]
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.

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. 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.