POU6F2 (POU class 6 homeobox 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11281
Gene name Gene Name - the full gene name approved by the HGNC.
POU class 6 homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POU6F2
Synonyms (NCBI Gene) Gene synonyms aliases
RPF-1, WT5, WTSL
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(27)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609062 21694 ENSG00000106536
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Wilms Tumor Wilms tumor 5 rs121918261, rs2116574924 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dyslexia Dyslexia N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Metabolic Syndrome Serum bilirubin levels x sex interaction in metabolic syndrome, Metabolic syndrome N/A N/A GWAS
Motion Sickness Motion sickness N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
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