InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: USH2A

Summary

InnateDB Protein

IDBP-106676.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

USH2A

Protein Name

Usher syndrome 2A (autosomal recessive, mild)

Synonyms

dJ1111A8.1; RP39; US2; USH2;

Species

Homo sapiens

Ensembl Protein

ENSP00000355909

InnateDB Gene

IDBG-106670 (USH2A)

Protein Structure

UniProt Annotation

Function

Involved in hearing and vision.

Subcellular Localization

Cell projection, stereocilium membrane {ECO:0000269PubMed:14676276}; Single-pass type I membrane protein {ECO:0000269PubMed:14676276}. Note=Probable component of the interstereocilia ankle links in the inner ear sensory cells.Isoform 2: Secreted.

Disease Associations

Usher syndrome 2A (USH2A) [MIM:276901]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with 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. {ECO:0000269PubMed:10729113, ECO:0000269PubMed:10738000, ECO:0000269PubMed:10909849, ECO:0000269PubMed:11311042, ECO:0000269PubMed:12112664, ECO:0000269PubMed:12525556, ECO:0000269PubMed:14970843, ECO:0000269PubMed:15015129, ECO:0000269PubMed:15025721, ECO:0000269PubMed:15241801, ECO:0000269PubMed:15325563, ECO:0000269PubMed:17085681, ECO:0000269PubMed:17405132, ECO:0000269PubMed:18273898, ECO:0000269PubMed:20440071, ECO:0000269PubMed:9624053}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa 39 (RP39) [MIM:613809]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:10775529, ECO:0000269PubMed:12112664, ECO:0000269PubMed:12427073, ECO:0000269PubMed:15325563, ECO:0000269PubMed:16098008, ECO:0000269PubMed:17296898, ECO:0000269PubMed:22334370}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea. {ECO:0000269PubMed:11788194, ECO:0000269PubMed:12433396, ECO:0000269PubMed:15015129, ECO:0000269PubMed:9624053}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005518	collagen binding
GO:0017022	myosin binding

Biological Process

GO:0007601	visual perception
GO:0007605	sensory perception of sound
GO:0035315	hair cell differentiation
GO:0045494	photoreceptor cell maintenance
GO:0048496	maintenance of organ identity
GO:0050896	response to stimulus
GO:0050953	sensory perception of light stimulus
GO:0060113	inner ear receptor cell differentiation

Cellular Component

GO:0002142	stereocilia ankle link complex
GO:0005604	basement membrane
GO:0005737	cytoplasm
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane
GO:0032421	stereocilium bundle
GO:0060171	stereocilium membrane

Protein Structure and Domains

PDB ID

InterPro

IPR002049 EGF-like, laminin
IPR003961 Fibronectin, type III
IPR006558 LamG-like jellyroll fold
IPR008211 Laminin, N-terminal
IPR008985 Concanavalin A-like lectin/glucanases superfamily

PFAM

PF00053
PF00041
PF01108
PF00055

PRINTS

PIRSF

SMART

SM00180
SM00060
SM00560
SM00136

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O75445