POU3F4 (POU class 3 homeobox 4)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5456
Gene name Gene Name - the full gene name approved by the HGNC.
POU class 3 homeobox 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
POU3F4
Synonyms (NCBI Gene) Gene synonyms aliases
BRAIN-4, BRN-4, BRN4, DFN3, DFNX2, OCT-9, OTF-9, OTF9
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNX2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the POU-III class of neural transcription factors. This family member plays a role in inner ear development. The protein is thought to be involved in the mediation of epigenetic signals which induce striatal neuron-precursor
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(21)
SNP ID Visualize variation Clinical significance Consequence
rs104894920 A>T Pathogenic Coding sequence variant, stop gained
rs104894921 T>G Pathogenic Coding sequence variant, missense variant
rs104894922 A>G Pathogenic Coding sequence variant, missense variant
rs104894923 A>T Pathogenic Coding sequence variant, missense variant
rs104894924 C>G,T Pathogenic, uncertain-significance Coding sequence variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
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 7839145
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300039 9217 ENSG00000196767
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID P49335
Protein name POU domain, class 3, transcription factor 4 (Brain-specific homeobox/POU domain protein 4) (Brain-4) (Brn-4) (Octamer-binding protein 9) (Oct-9) (Octamer-binding transcription factor 9) (OTF-9)
Protein function Probable transcription factor which exert its primary action widely during early neural development and in a very limited set of neurons in the mature brain.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00157 Pou 189 → 260 Pou domain - N-terminal to homeobox domain Domain
PF00046 Homeodomain 279 → 335 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Brain specific.
Sequence 
MATAASNPYSILSSTSLVHADSAGMQQGSPFRNPQKLLQSDYLQGVPSNGHPLGHHWVTS
LSDGGPWSSTLATSPLDQQDVKPGREDLQLGAIIHHRSPHVAHHSPHTNHPNAWGASPAP
NPSITSSGQPLNVYSQPGFTVSGMLEHGGLTPPPAAASAQSLHPVLREPPDHGELGSHHC
QDHSDEETPTSDELEQFAKQFKQRRIKLGFTQADVGLALGTLYGNVFSQTTICRFEGLQL
SFKNMCKLKPLLNKWLEEADSSTGSPTSIDKIAAQGRKRKKRTSIEVSVKGVLETHFLKC
PKPAAQEISSLADSLQLEKEVVRVWFCNRRQKEKRMTPPGDQQPHEVYSHTVKTDTSCHD
L
Sequence length 361
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (13)
Causal
Disease term Disease name dbSNP ID References
Choroideremia Choroideremia rs132630263, rs132630264, rs132630265, rs587776746, rs132630267, rs132630266, rs397514603, rs386833676, rs281865373, rs527236048, rs786204761, rs886041179, rs886041177, rs776256380, rs1057516265
View all (20 more)
Deafness Progressive hearing loss stapes fixation rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)		 7581392, 23606368, 9778298, 9298820, 7839145
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hearing loss Conductive hearing loss rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Mitochondrial Non-Syndromic Sensorineural Deafness mitochondrial non-syndromic sensorineural hearing loss GenCC
Show/Hide Text Mining Associations (32)
Associations from Text Mining
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 33638616
Adenocarcinoma of Lung Associate 35367201
Adrenoleukodystrophy Associate 32952548
Arnold Chiari Malformation Associate 32952548
Bone Diseases Associate 16365218, 27941975
Carcinoma Neuroendocrine Associate 35367201
Cardiomyopathy Dilated Associate 16365218
Cochlear Diseases Associate 33860785
Deafness Associate 1609803, 16365218, 22389666, 25792666, 25928534, 27941975, 32048449, 33976695, 35062939, 7825582
Deafness Autosomal Recessive 3 Associate 25928534, 34133399, 9298820