InnateDB Protein
|
IDBP-82218.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
DFNB31
|
Protein Name
|
deafness, autosomal recessive 31
|
Synonyms
|
CIP98; PDZD7B; USH2D; WHRN; WI;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000265134
|
InnateDB Gene
|
IDBG-82214 (DFNB31)
|
Protein Structure
|
|
Function |
Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. {ECO:0000250}.
|
Subcellular Localization |
Cytoplasm {ECO:0000250}. Cell projection, stereocilium {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Note=Detected at the level of stereocilia in inner outer hair cells of the cochlea and vestibule. Colocalizes with the growing ends of actin filaments (By similarity). Colocalizes with MPP1 in the retina, at the outer limiting membrane (OLM), outer plexifirm layer (OPL), basal bodies and at the connecting cilium (CC). {ECO:0000250, ECO:0000269PubMed:17584769}.
|
Disease Associations |
Deafness, autosomal recessive, 31 (DFNB31) [MIM:607084]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:11973626, ECO:0000269PubMed:12833159, ECO:0000269PubMed:15841483}. Note=The disease is caused by mutations affecting the gene represented in this entry.Usher syndrome 2D (USH2D) [MIM:611383]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated |
Total |
2
[view]
|
Protein-Protein |
2
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
2 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR001478
PDZ domain
|
PFAM |
PF00595
PF13180
|
PRINTS |
|
PIRSF |
|
SMART |
SM00228
|
TIGRFAMs |
|
Modification |
|
SwissProt |
Q9P202
|
PhosphoSite |
PhosphoSite-Q9P202
|
TrEMBL |
|
UniProt Splice Variant |
|
Entrez Gene |
25861
|
UniGene |
Hs.93836
|
RefSeq |
NP_001077354
|
HUGO |
HGNC:16361
|
OMIM |
607928
|
CCDS |
CCDS43870
|
HPRD |
09718
|
IMGT |
|
EMBL |
AB040959
AK022854
AK056190
AL110228
AL138895
BC142614
BC142684
CH471090
|
GenPept |
AAI42615
AAI42685
BAA96050
BAB14275
CAB53685
CAI17244
CAI17245
CAI17246
CAI17247
EAW87422
EAW87423
|
|
|