POU6F2 (POU class 6 homeobox 2)

Gene

• Entrez ID: 11281
• Gene name: POU class 6 homeobox 2
• Gene symbol: POU6F2
• Synonyms (NCBI Gene): RPF-1, WT5, WTSL
• Chromosome: 7
• Chromosome location: 7p14.1
• Summary: This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as mono

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016800	hsa-miR-335-5p	Microarray	18185580
MIRT712772	hsa-miR-548aa	HITS-CLIP	19536157
MIRT712771	hsa-miR-548ap-3p	HITS-CLIP	19536157
MIRT712770	hsa-miR-548t-3p	HITS-CLIP	19536157
MIRT712769	hsa-miR-3148	HITS-CLIP	19536157
MIRT712768	hsa-miR-6124	HITS-CLIP	19536157
MIRT712767	hsa-miR-3978	HITS-CLIP	19536157
MIRT712766	hsa-miR-7850-5p	HITS-CLIP	19536157
MIRT496612	hsa-miR-3120-3p	PAR-CLIP	22291592
MIRT496611	hsa-miR-545-3p	PAR-CLIP	22291592
MIRT496610	hsa-miR-505-5p	PAR-CLIP	22291592
MIRT712772	hsa-miR-548aa	HITS-CLIP	19536157
MIRT712771	hsa-miR-548ap-3p	HITS-CLIP	19536157
MIRT712770	hsa-miR-548t-3p	HITS-CLIP	19536157
MIRT712769	hsa-miR-3148	HITS-CLIP	19536157
MIRT712768	hsa-miR-6124	HITS-CLIP	19536157
MIRT712767	hsa-miR-3978	HITS-CLIP	19536157
MIRT712766	hsa-miR-7850-5p	HITS-CLIP	19536157
MIRT496612	hsa-miR-3120-3p	PAR-CLIP	22291592
MIRT496611	hsa-miR-545-3p	PAR-CLIP	22291592
MIRT496610	hsa-miR-505-5p	PAR-CLIP	22291592
MIRT1251134	hsa-miR-1289	CLIP-seq
MIRT1251135	hsa-miR-3198	CLIP-seq
MIRT1251136	hsa-miR-4294	CLIP-seq
MIRT1251137	hsa-miR-4309	CLIP-seq
MIRT1251138	hsa-miR-4653-3p	CLIP-seq
MIRT1251139	hsa-miR-4752	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8601806
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	8601806
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	TAS	8601806
GO:0007601	Process	Visual perception	TAS	8601806

Other IDs

• MIM: 609062
• HGNC: 21694
• e!Ensembl: ENSG00000106536

Protein

• UniProt ID: P78424
• Protein name: POU domain, class 6, transcription factor 2 (Retina-derived POU domain factor 1) (RPF-1)
• Protein 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.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00157	Pou	479 → 529	Pou domain - N-terminal to homeobox domain	Domain
  PF00157	Pou	556 → 586	Pou domain - N-terminal to homeobox domain	Domain
  PF00046	Homeodomain	608 → 664	Homeodomain	Domain

• Tissue specificity: 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. {ECO:0000269|PubM
• Sequence:

  MSALLQDPMIAGQVSKPLLSVRSEMNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPS
  KLFGARGNPALSDPGTPDQHQASQTHPPFPVGPQPLLTAQQLASAVAGVMPGGPPALNQP
  ILIPFNMAGQLGGQQGLVLTLPTANLTNIQGLVAAAAAGGIMTLPLQNLQATSSLNSQLQ
  QLQLQLQQQQQQQQQQPPPSTNQHPQPAPQAPSQSQQQPLQPTPPQQPPPASQQPPAPTS
  QLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPSQSPGHGLPSPLTPPNPLQLVNNP
  LASQAAAAAAAMSSIASSQAFGNALSSLQGVTGQLVTNAQGQIIGTIPLMPNPGPSSQAA
  SGTQGLQVQPITPQLLTNAQGQIIATVIGNQILPVINTQGITLSPIKPGQQLHQPSQTSV
  GQAASQGNLLHLAHSQASMSQSPVRQASSSSSSSSSSSALSVGQLVSNPQTAAGEVDGVN
  LEEIREFAKAFKIRRLSLGLTQTQVGQALSATEGPAYSQSAICRHTILRSHFFLPQEAQE
  NTIASSLTAKLNPGLLYPARFEKLDITPKSAQKIKPVLERWMAEAEARHRAGMQNLTEFI
  GSEPSKKRKRRTSFTPQALEILNAHFEKNTHPSGQEMTEIAEKLNYDREVVRVWFCNKRQ
  ALKNTIKRLKQHEPATAVPLEPLTDSLEENS

• Sequence length: 691

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Wilms tumor 5	Pathogenic	rs121918261, rs2116574924	RCV000001948 RCV000001949

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Benign	rs150071017	RCV005906177
Hepatocellular carcinoma	Benign	rs150071017	RCV005906176
Hypogonadotropic hypogonadism	Uncertain significance; Conflicting classifications of pathogenicity	rs775692137, rs940346614, rs373840004, rs145961110, rs140579551, rs1226845805, rs778523090, rs767635644, rs751499789, rs540890506	RCV003221466 RCV003221467 RCV003221468 RCV003221469 RCV003221470 RCV003318422 RCV003318424 RCV003318426 RCV003318428 RCV003318429
POU6F2-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs144939808, rs145961110, rs761906616, rs566759150, rs779363584, rs2302122, rs373709968, rs2302123, rs751710078, rs148254024, rs2302125, rs368929654, rs200308619, rs538979252, rs2074936, rs150437987, rs140579551, rs143607091	RCV003954006 RCV003919038 RCV003421009 RCV003981483 RCV003981558 RCV003974421 RCV003894347 RCV003982469 RCV003982493 RCV003977172 RCV003982287 RCV003922099 RCV003926784 RCV003946873 RCV003981897 RCV003968044 RCV003910370 RCV003932999 RCV003913076

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Mucoepidermoid	Associate	27340278
Carcinoma Non Small Cell Lung	Associate	37053020
Colorectal Neoplasms	Associate	30581274, 32100443
Neoplasms	Associate	37186587
Stomach Neoplasms	Associate	37186587