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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 nameGene Name - the full gene name approved by the HGNC.
POU class 6 homeobox 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
POU6F2
SynonymsGene synonyms aliases
RPF-1, WT5, WTSL
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.1
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0003700 Function DNA-binding transcription factor activity TAS 8601806
Other IDsOther 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
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
Sequence 
MSALLQDPMIAGQVSKPLLSVRSEMNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPS
KLFGARGNPALSDPGTPDQHQASQTHPPFPVGPQPLLTAQQLASAVAGVMPGGPPALNQP
ILIPFNMAGQLGGQQGLVLTLPTANLTNIQGLVAAAAAGGIMTLPLQNLQATSSLNSQLQ
QLQLQLQQQQQQQQQQPPPSTNQHPQPAPQAPSQSQQQPLQPTPPQQPPPASQQPPAPTS
QLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPSQSPGHGLPSPLTPPNPLQLVNNP
LASQAAAAAAAMSSIASSQAFGNALSSLQGVTGQLVTNAQGQIIGTIPLMPNPGPSSQAA
SGTQGLQVQPITPQLLTNAQGQIIATVIGNQILPVINTQGITLSPIKPGQQLHQPSQTSV
GQAASQGNLLHLAHSQASMSQSPVRQASSSSSSSSSSSALSVGQLVSNPQTAAGEVDGVN
LEEIREFAKAFKIRRLSLGLTQTQVGQALSATEGPAYSQSAICRHTILRSHFFLPQEAQE
NTIASSLTAKLNPGLLYPARFEKLDITPKSAQKIKPVLERWMAEAEARHRAGMQNLTEFI
GSEPSKKRKRRTSFTPQALEILNAHFEKNTHPSGQEMTEIAEKLNYDREVVRVWFCNKRQ
ALKNTIKRLKQHEPATAVPLEPLTDSLEENS
Sequence length 691
Interactions View interactions
Associated diseases
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Aniridia Aniridia rs1565200471, rs121907912, rs121907915, rs121907913, rs121907914, rs1131692318, rs121907916, rs121907917, rs794726661, rs121907918, rs121907920, rs121907922, rs121907927, rs121907928, rs878852979, rs121907929, rs397514640, rs398123295, rs606231388, rs864309681, rs886041222, rs886041221, rs1057517785, rs1057517783, rs757259413, rs1057517780, rs1131692319, rs1131692317, rs1131692316, rs1131692315, rs1131692314, rs1131692313, rs1131692312, rs1131692310, rs1131692309, rs1131692308, rs1131692307, rs1131692306, rs1131692305, rs1131692304, rs1131692303, rs1131692302, rs1131692301, rs1131692300, rs1131692299, rs1131692298, rs1131692297, rs1131692296, rs1131692295, rs1131692294, rs1131692293, rs1131692292, rs1131692291, rs1131692290, rs1554985709, rs1131692289, rs141873759, rs1131692287, rs1131692286, rs1131692285, rs1131692284, rs1131692282, rs1554985714, rs1554984996, rs1554983586, rs1554982537, rs1554983229, rs1554983571, rs1554985305, rs1554985378, rs1554985737, rs1554986754, rs1554985028, rs1411880763, rs1554985320, rs1565264372, rs1565264387, rs1565264399, rs1554986858, rs1565277245, rs1565245598, rs1565246499, rs1565238322, rs1592416305, rs1592563428, rs1592348310, rs750848278, rs1592348542, rs1592348901, rs1592349567, rs1592367444, rs1592367623, rs1592369407, rs1592369500, rs1592369895, rs1592370052, rs1592409736, rs1592409876, rs1592410582, rs1592411896, rs1592414464, rs1592415563, rs1592415745, rs1592415868, rs1592415958, rs1592416453, rs1592420967, rs1592421398, rs1592433022, rs1592433545, rs1592433606, rs1592434096, rs1592435423, rs151086737, rs1592530126, rs1592530379, rs1592530521, rs1592531953, rs1592532084, rs1592532169, rs1554985100, rs1592542273, rs1592542705, rs1357628990, rs1592542942, rs1592543032, rs1592543499, rs1592543841, rs769095184, rs1592544327, rs1592544553, rs759557055, rs1592545392, rs760490431, rs763807196, rs1592545972, rs1592546024, rs1592546120, rs1592546273, rs1592562717, rs1592562836, rs1592562910, rs1592563047, rs1592563240, rs1592563333, rs1592563636, rs1592563721, rs1592564013, rs1592564157, rs1592564219, rs1592564366, rs1388158419, rs1592610205, rs1592350356, rs1592370265, rs1592412022, rs1592416538, rs1592421981, rs1592422097, rs1592435527, rs1592435632, rs1592435653, rs1592532561, rs1592532580, rs1592542002, rs1592542060, rs1592546340, rs1592546566, rs1592546589, rs1592564908, rs1592614756, rs1592654547, rs1592610121, rs1954534591
Autism Autistic Disorder rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634 20663923
Hypertension Hypertensive disease rs13306026, rs13333226
Metabolic syndrome Metabolic Syndrome X rs367643250, rs587777380, rs777736953 30621171
Unknown
Disease name Disease term dbSNP ID References
Liver neoplasms Liver neoplasms
Lung neoplasms Lung Neoplasms
Motion sickness Motion Sickness 25628336

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