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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Wilms tumor 5	Pathogenic	rs121918261, rs2116574924	RCV000001948 RCV000001949	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadotropic hypogonadism	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POU6F2-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aniridia	Aniridia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CTD_human_DG	20663923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	27340278	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30581274, 32100443	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29370175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27340278		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	GWASCAT_DG	30621171		★☆☆☆☆ Found in Text Mining only
Motion Sickness	Motion Sickness	GWASCAT_DG	25628336		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	27340278		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15459955, 16217254, 17164647		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15459955, 17164647		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	LHGDN	15459955		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	31692290		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37186587	Associate	★☆☆☆☆ Found in Text Mining only
Wilms tumor and radial bilateral aplasia	Wilms tumor	UNIPROT_DG	11284034		★☆☆☆☆ Found in Text Mining only
Wilms tumor and radial bilateral aplasia	Wilms tumor	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Wilms tumor and radial bilateral aplasia	Wilms tumor	CTD_human_DG			★☆☆☆☆ Found in Text Mining only