UniProtKB - P78424 (PO6F2_HUMAN)
Protein
POU domain, class 6, transcription factor 2
Gene
POU6F2
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 607 – 666 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA binding Source: UniProtKB-KW
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: GO_Central
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
GO - Biological processi
- cell differentiation Source: GO_Central
- central nervous system development Source: ProtInc
- ganglion mother cell fate determination Source: ProtInc
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- regulation of transcription, DNA-templated Source: UniProtKB
- transcription by RNA polymerase II Source: ProtInc
- visual perception Source: ProtInc
Keywordsi
Molecular function | DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P78424 |
Names & Taxonomyi
Protein namesi | Recommended name: POU domain, class 6, transcription factor 2Alternative name(s): Retina-derived POU domain factor 1 Short name: RPF-1 |
Gene namesi | Name:POU6F2 Synonyms:RPF1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000106536.19 |
HGNCi | HGNC:21694, POU6F2 |
MIMi | 609062, gene |
neXtProti | NX_P78424 |
Subcellular locationi
Nucleus
- Nucleus Curated
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: GO_Central
Keywords - Cellular componenti
NucleusPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022419 | 192 | Q → H in WT5. 1 Publication | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 11281 |
MalaCardsi | POU6F2 |
MIMi | 601583, phenotype |
OpenTargetsi | ENSG00000106536 |
Orphaneti | 654, Nephroblastoma |
PharmGKBi | PA134969420 |
Miscellaneous databases
Pharosi | P78424, Tbio |
Polymorphism and mutation databases
BioMutai | POU6F2 |
DMDMi | 327478564 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000100762 | 1 – 691 | POU domain, class 6, transcription factor 2Add BLAST | 691 |
Proteomic databases
MassIVEi | P78424 |
PaxDbi | P78424 |
PeptideAtlasi | P78424 |
PRIDEi | P78424 |
ProteomicsDBi | 57623 [P78424-1] 57624 [P78424-2] |
PTM databases
iPTMneti | P78424 |
PhosphoSitePlusi | P78424 |
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
Bgeei | ENSG00000106536, Expressed in sural nerve and 88 other tissues |
ExpressionAtlasi | P78424, baseline and differential |
Genevisiblei | P78424, HS |
Organism-specific databases
HPAi | ENSG00000106536, Tissue enhanced (brain, pancreas) |
Interactioni
Binary interactionsi
P78424
Protein-protein interaction databases
BioGRIDi | 116437, 144 interactors |
IntActi | P78424, 137 interactors |
STRINGi | 9606.ENSP00000384004 |
Miscellaneous databases
RNActi | P78424, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 476 – 586 | POU-specificPROSITE-ProRule annotationAdd BLAST | 111 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 167 – 446 | Gln-richAdd BLAST | 280 | |
Compositional biasi | 197 – 293 | Pro-richAdd BLAST | 97 | |
Compositional biasi | 435 – 461 | Ser-richAdd BLAST | 27 |
Sequence similaritiesi
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG3802, Eukaryota |
GeneTreei | ENSGT00940000156175 |
HOGENOMi | CLU_013065_6_1_1 |
InParanoidi | P78424 |
OMAi | QPDLGMA |
OrthoDBi | 474850at2759 |
PhylomeDBi | P78424 |
TreeFami | TF350705 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
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 |
PANTHERi | PTHR11636:SF68, PTHR11636:SF68, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00157, Pou, 2 hits |
PRINTSi | PR00028, POUDOMAIN |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00352, POU, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF47413, SSF47413, 1 hit |
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 |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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.
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A6E1XZL4 | A0A6E1XZL4_HUMAN | POU domain protein | POU6F2 | 720 | Annotation score: | ||
H7C2B2 | H7C2B2_HUMAN | POU domain, class 6, transcription ... | POU6F2 | 142 | Annotation score: | ||
A0A669KBB9 | A0A669KBB9_HUMAN | POU domain, class 6, transcription ... | POU6F2 | 36 | Annotation score: |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 196 | Q → QQ in AAB49727 (PubMed:8601806).Curated | 1 | |
Sequence conflicti | 196 | Q → QQ in AAB49728 (PubMed:8601806).Curated | 1 | |
Sequence conflicti | 258 | Q → H in AAB49727 (PubMed:8601806).Curated | 1 | |
Sequence conflicti | 258 | Q → H in AAB49728 (PubMed:8601806).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_022419 | 192 | Q → H in WT5. 1 Publication | 1 | |
Natural variantiVAR_028410 | 199 | P → L. Corresponds to variant dbSNP:rs2074936Ensembl. | 1 | |
Natural variantiVAR_028411 | 500 | L → M. Corresponds to variant dbSNP:rs4992268Ensembl. | 1 | |
Natural variantiVAR_028412 | 639 | E → K. Corresponds to variant dbSNP:rs7804851Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002336 | 524 – 559 | Missing in isoform 2. 1 PublicationAdd BLAST | 36 |
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. |
CCDSi | CCDS34620.2 [P78424-1] CCDS55103.1 [P78424-2] |
RefSeqi | NP_001159490.1, NM_001166018.1 [P78424-2] NP_009183.3, NM_007252.3 [P78424-1] |
Genome annotation databases
Ensembli | ENST00000403058; ENSP00000384004; ENSG00000106536 [P78424-1] |
GeneIDi | 11281 |
KEGGi | hsa:11281 |
UCSCi | uc003thb.3, human [P78424-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. |
CCDSi | CCDS34620.2 [P78424-1] CCDS55103.1 [P78424-2] |
RefSeqi | NP_001159490.1, NM_001166018.1 [P78424-2] NP_009183.3, NM_007252.3 [P78424-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 116437, 144 interactors |
IntActi | P78424, 137 interactors |
STRINGi | 9606.ENSP00000384004 |
PTM databases
iPTMneti | P78424 |
PhosphoSitePlusi | P78424 |
Polymorphism and mutation databases
BioMutai | POU6F2 |
DMDMi | 327478564 |
Proteomic databases
MassIVEi | P78424 |
PaxDbi | P78424 |
PeptideAtlasi | P78424 |
PRIDEi | P78424 |
ProteomicsDBi | 57623 [P78424-1] 57624 [P78424-2] |
Protocols and materials databases
Antibodypediai | 1767, 205 antibodies |
DNASUi | 11281 |
Genome annotation databases
Ensembli | ENST00000403058; ENSP00000384004; ENSG00000106536 [P78424-1] |
GeneIDi | 11281 |
KEGGi | hsa:11281 |
UCSCi | uc003thb.3, human [P78424-1] |
Organism-specific databases
CTDi | 11281 |
DisGeNETi | 11281 |
EuPathDBi | HostDB:ENSG00000106536.19 |
GeneCardsi | POU6F2 |
HGNCi | HGNC:21694, POU6F2 |
HPAi | ENSG00000106536, Tissue enhanced (brain, pancreas) |
MalaCardsi | POU6F2 |
MIMi | 601583, phenotype 609062, gene |
neXtProti | NX_P78424 |
OpenTargetsi | ENSG00000106536 |
Orphaneti | 654, Nephroblastoma |
PharmGKBi | PA134969420 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3802, Eukaryota |
GeneTreei | ENSGT00940000156175 |
HOGENOMi | CLU_013065_6_1_1 |
InParanoidi | P78424 |
OMAi | QPDLGMA |
OrthoDBi | 474850at2759 |
PhylomeDBi | P78424 |
TreeFami | TF350705 |
Enzyme and pathway databases
PathwayCommonsi | P78424 |
Miscellaneous databases
BioGRID-ORCSi | 11281, 3 hits in 866 CRISPR screens |
ChiTaRSi | POU6F2, human |
GenomeRNAii | 11281 |
Pharosi | P78424, Tbio |
PROi | PR:P78424 |
RNActi | P78424, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000106536, Expressed in sural nerve and 88 other tissues |
ExpressionAtlasi | P78424, baseline and differential |
Genevisiblei | P78424, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
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 |
PANTHERi | PTHR11636:SF68, PTHR11636:SF68, 1 hit |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit PF00157, Pou, 2 hits |
PRINTSi | PR00028, POUDOMAIN |
SMARTi | View protein in SMART SM00389, HOX, 1 hit SM00352, POU, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit SSF47413, SSF47413, 1 hit |
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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PO6F2_HUMAN | |
Accessioni | P78424Primary (citable) accession number: P78424 Secondary accession number(s): A4D1W2 Q9UDS7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 2003 |
Last sequence update: | April 5, 2011 | |
Last modified: | December 2, 2020 | |
This is version 183 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations