InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Ush2a

Summary

InnateDB Protein

IDBP-208275.6

Last Modified

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

Gene Symbol

Ush2a

Protein Name

Usher syndrome 2A (autosomal recessive, mild) homolog (human)

Synonyms

A930011D15Rik; A930037M10Rik; Gm676; Gm983; Mush2a; Usherin;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000050454

InnateDB Gene

IDBG-208269 (Ush2a)

Protein Structure

UniProt Annotation

Function

Involved in hearing and vision. {ECO:0000250}.

Subcellular Localization

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

Disease Associations

Tissue Specificity

Present in the testis, epididymis, oviduct, spleen, submaxillary gland, and small and large intestines. Not detected in the brain, skin, lung, skeletal muscle, cardiac muscle, liver or kidney. Expressed in smooth muscle of the colon and the epididymis. Also present in select vascular basement membranes. In the cochlea, it is present in virtually every basement membrane. It is particularly high in the strial capillary basement membranes (SCBMs). In the retina, it is again expressed in all of the basement membranes. It is also very prevalent in the lens capsule and the Bruch's layer between the retinal pigment epithelium and the choroid layer, which is very rich in basement membranes. At postnatal day 0 in it is widely expressed in the basement membranes of the cochlea. Present in the synaptic terminals of retinal photoreceptors (at protein level). {ECO:0000269PubMed:11788194, ECO:0000269PubMed:16301216}.

Comments

Interactions

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 1 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	1 [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:0002141	stereocilia ankle link
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

MGI:1341292

InterPro

IPR001791 Laminin G domain
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

PF00054
PF02210
PF00053
PF00041
PF01108
PF00055

PRINTS

PIRSF

SMART

SM00210
SM00282
SM00180
SM00060
SM00560
SM00136

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q2QI47