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Ush2a usherin [ Mus musculus (house mouse) ]

Gene ID: 22283, updated on 8-Dec-2022

Summary

Official Symbol
Ush2aprovided by MGI
Official Full Name
usherinprovided by MGI
Primary source
MGI:MGI:1341292
See related
Ensembl:ENSMUSG00000026609 AllianceGenome:MGI:1341292
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Gm676; Gm983; Ushrn; Mush2a; A930011D15Rik; A930037M10Rik
Summary
Enables collagen binding activity; identical protein binding activity; and myosin binding activity. Acts upstream of or within establishment of protein localization; neuron differentiation; and photoreceptor cell maintenance. Located in several cellular components, including periciliary membrane compartment; photoreceptor connecting cilium; and stereocilium membrane. Part of USH2 complex and stereocilia ankle link complex. Is expressed in sensory organ and testis. Used to study Usher syndrome type 2A. Human ortholog(s) of this gene implicated in Usher syndrome (multiple); nonsyndromic deafness; and retinitis pigmentosa (multiple). Orthologous to human USH2A (usherin). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis adult (RPKM 1.3) and ovary adult (RPKM 0.0) See more
Orthologs
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Genomic context

See Ush2a in Genome Data Viewer
Location:
1 H6; 1 92.29 cM
Exon count:
73
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (187995035..188697694)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (188262838..188965497)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene estrogen-related receptor gamma Neighboring gene RIKEN cDNA 9330162B11 gene Neighboring gene predicted gene, 51738 Neighboring gene predicted gene, 39735 Neighboring gene predicted gene, 36456 Neighboring gene predicted gene, 25095 Neighboring gene predicted gene, 25269 Neighboring gene nuclear encoded tRNA asparagine 3 (anticodon GTT) Neighboring gene predicted gene, 36561 Neighboring gene potassium channel tetramerisation domain containing 3

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (6) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
enables collagen binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables myosin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of USH2 complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of USH2 complex IPI
Inferred from Physical Interaction
more info
PubMed 
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in basement membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in basement membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in basement membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with neuronal cell body ISO
Inferred from Sequence Orthology
more info
 
located_in periciliary membrane compartment IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with photoreceptor connecting cilium ISO
Inferred from Sequence Orthology
more info
 
located_in photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with photoreceptor inner segment ISO
Inferred from Sequence Orthology
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in stereocilia ankle link IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilia ankle link NAS
Non-traceable Author Statement
more info
PubMed 
part_of stereocilia ankle link complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium bundle IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse ISO
Inferred from Sequence Orthology
more info
 
colocalizes_with terminal bouton ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
usherin
Names
Usher syndrome 2A (autosomal recessive, mild) homolog
usher syndrome type IIa protein homolog
usher syndrome type-2A protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_021408.3NP_067383.3  usherin precursor

    See identical proteins and their annotated locations for NP_067383.3

    Status: VALIDATED

    Source sequence(s)
    AC122122, AC129312, AC165230, AK020845, DQ073638
    Consensus CDS
    CCDS15607.1
    UniProtKB/Swiss-Prot
    Q2QI47, Q9JLP3
    UniProtKB/TrEMBL
    Q9D1Z8
    Related
    ENSMUSP00000050454.8, ENSMUST00000060479.14
    Conserved Domains (10) summary
    smart00060
    Location:13621445
    FN3; Fibronectin type 3 domain
    smart00180
    Location:792832
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    smart00560
    Location:145280
    LamGL; LamG-like jellyroll fold domain
    cd00055
    Location:896945
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    cd00063
    Location:39564053
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    cd00110
    Location:17071857
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00041
    Location:10551128
    fn3; Fibronectin type III domain
    pfam00053
    Location:844894
    Laminin_EGF; Laminin EGF domain
    pfam02210
    Location:15391669
    Laminin_G_2; Laminin G domain
    cl02806
    Location:313513
    Laminin_N; Laminin N-terminal (Domain VI)

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    187995035..188697694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017319869.1XP_017175358.1  usherin isoform X1

    Conserved Domains (2) summary
    cd00063
    Location:20212118
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam00041
    Location:24142485
    fn3; Fibronectin type III domain