P78424 · PO6F2_HUMAN
- ProteinPOU domain, class 6, transcription factor 2
- GenePOU6F2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids691 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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.
Features
Showing features for dna binding.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
DNA binding | 607-666 | Homeobox | ||||
Sequence: KRKRRTSFTPQALEILNAHFEKNTHPSGQEMTEIAEKLNYDREVVRVWFCNKRQALKNTI |
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | chromatin | |
Cellular Component | nucleus | |
Molecular Function | DNA-binding transcription factor activity | |
Molecular Function | DNA-binding transcription factor activity, RNA polymerase II-specific | |
Molecular Function | RNA polymerase II cis-regulatory region sequence-specific DNA binding | |
Biological Process | central nervous system development | |
Biological Process | ganglion mother cell fate determination | |
Biological Process | regulation of DNA-templated transcription | |
Biological Process | regulation of transcription by RNA polymerase II | |
Biological Process | visual perception |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended namePOU domain, class 6, transcription factor 2
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionP78424
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Hereditary susceptibility to Wilms tumor 5 (WT5)
- Note
- DescriptionPediatric malignancy of kidney and one of the most common solid cancers in childhood.
- See alsoMIM:601583
Natural variants in WT5
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_022419 | 192 | Q>H | in WT5 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_022419 | 192 | in WT5 | |||
Sequence: Q → H | ||||||
Natural variant | VAR_028410 | 199 | in dbSNP:rs2074936 | |||
Sequence: P → L | ||||||
Natural variant | VAR_028411 | 500 | in dbSNP:rs4992268 | |||
Sequence: L → M | ||||||
Natural variant | VAR_028412 | 639 | in dbSNP:rs7804851 | |||
Sequence: E → K |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 847 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000100762 | 1-691 | POU domain, class 6, transcription factor 2 | |||
Sequence: MSALLQDPMIAGQVSKPLLSVRSEMNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPSKLFGARGNPALSDPGTPDQHQASQTHPPFPVGPQPLLTAQQLASAVAGVMPGGPPALNQPILIPFNMAGQLGGQQGLVLTLPTANLTNIQGLVAAAAAGGIMTLPLQNLQATSSLNSQLQQLQLQLQQQQQQQQQQPPPSTNQHPQPAPQAPSQSQQQPLQPTPPQQPPPASQQPPAPTSQLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPSQSPGHGLPSPLTPPNPLQLVNNPLASQAAAAAAAMSSIASSQAFGNALSSLQGVTGQLVTNAQGQIIGTIPLMPNPGPSSQAASGTQGLQVQPITPQLLTNAQGQIIATVIGNQILPVINTQGITLSPIKPGQQLHQPSQTSVGQAASQGNLLHLAHSQASMSQSPVRQASSSSSSSSSSSALSVGQLVSNPQTAAGEVDGVNLEEIREFAKAFKIRRLSLGLTQTQVGQALSATEGPAYSQSAICRHTILRSHFFLPQEAQENTIASSLTAKLNPGLLYPARFEKLDITPKSAQKIKPVLERWMAEAEARHRAGMQNLTEFIGSEPSKKRKRRTSFTPQALEILNAHFEKNTHPSGQEMTEIAEKLNYDREVVRVWFCNKRQALKNTIKRLKQHEPATAVPLEPLTDSLEENS |
Proteomic databases
PTM databases
Expression
Tissue specificity
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.
Gene expression databases
Organism-specific databases
Interaction
Binary interactions
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region, compositional bias, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 25-93 | Disordered | ||||
Sequence: MNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPSKLFGARGNPALSDPGTPDQHQASQTHPPFPVGP | ||||||
Region | 186-297 | Disordered | ||||
Sequence: LQQQQQQQQQQPPPSTNQHPQPAPQAPSQSQQQPLQPTPPQQPPPASQQPPAPTSQLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPSQSPGHGLPSPLTPPNPLQLV | ||||||
Compositional bias | 218-236 | Pro residues | ||||
Sequence: QPLQPTPPQQPPPASQQPP | ||||||
Compositional bias | 237-277 | Polar residues | ||||
Sequence: APTSQLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPS | ||||||
Compositional bias | 278-294 | Pro residues | ||||
Sequence: QSPGHGLPSPLTPPNPL | ||||||
Region | 435-461 | Disordered | ||||
Sequence: SQASMSQSPVRQASSSSSSSSSSSALS | ||||||
Domain | 476-586 | POU-specific | ||||
Sequence: VDGVNLEEIREFAKAFKIRRLSLGLTQTQVGQALSATEGPAYSQSAICRHTILRSHFFLPQEAQENTIASSLTAKLNPGLLYPARFEKLDITPKSAQKIKPVLERWMAEAE |
Sequence similarities
Belongs to the POU transcription factor family. Class-6 subfamily.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
P78424-1
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.
- Name1
- NoteMajor isoform.
- Length691
- Mass (Da)73,265
- Last updated2011-04-05 v3
- Checksum3460C858ECBB5535
P78424-2
- Name2
- Differences from canonical
- 524-559: Missing
Computationally mapped potential isoform sequences
There are 3 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H7C2B2 | H7C2B2_HUMAN | POU6F2 | 142 | ||
A0A6E1XZL4 | A0A6E1XZL4_HUMAN | POU6F2 | 720 | ||
A0A669KBB9 | A0A669KBB9_HUMAN | POU6F2 | 36 |
Sequence caution
Features
Showing features for sequence conflict, compositional bias, alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Sequence conflict | 196 | in Ref. 1; AAB49727/AAB49728 | ||||
Sequence: Q → QQ | ||||||
Compositional bias | 218-236 | Pro residues | ||||
Sequence: QPLQPTPPQQPPPASQQPP | ||||||
Compositional bias | 237-277 | Polar residues | ||||
Sequence: APTSQLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPS | ||||||
Sequence conflict | 258 | in Ref. 1; AAB49727/AAB49728 | ||||
Sequence: Q → H | ||||||
Compositional bias | 278-294 | Pro residues | ||||
Sequence: QSPGHGLPSPLTPPNPL | ||||||
Alternative sequence | VSP_002336 | 524-559 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
U91934 EMBL· GenBank· DDBJ | AAB49727.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. | |
U91935 EMBL· GenBank· DDBJ | AAB49728.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AC005483 EMBL· GenBank· DDBJ | AAC83404.2 EMBL· GenBank· DDBJ | Genomic DNA | ||
AC073345 EMBL· GenBank· DDBJ | AAS07475.1 EMBL· GenBank· DDBJ | Genomic DNA | Different initiation | |
AC092174 EMBL· GenBank· DDBJ | AAP21873.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AC011292 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH236951 EMBL· GenBank· DDBJ | EAL23992.1 EMBL· GenBank· DDBJ | Genomic DNA | Sequence problems. |