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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. USH2A, Usher syndrome 2A (autosomal recessive, mild)
Sequence ID:NM_007123
NM_206933
RefSeqGene ID:NG_009497
Entrez Gene ID:7399
Ensembl ID:ENSG00000042781

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
RETINITIS PIGMENTOSA 39 
RETINITIS PIGMENTOSA,JUVENILE, AUTOSOMAL RECESSIVEC2orf71
CNGB1
CRX
CRX
CRX
MERTK
RLBP1
SPATA7
USHER SYNDROME, TYPE 2APDZD7

Cytogenetic Location (from UniGene)

Cytogenetic Location:1q41Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 216347291 - 216596738

 Exon Info From UCSC:
NM_007123
NM_206933

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_996816  NP_009054  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_007123 NP_009054   fn3
Laminin_EGF
Laminin_N
NM_206933 NP_996816   fn3
Laminin_EGF
Laminin_N
Laminin_G_2

Related Sequences

 
mRNAGenPeptSwissProt
AF055580 AAC23748 O75445
AY481573 AAS47698 O75445

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens USH2A NP_996816 M.musculus Ush2a 22283 Gene Info NP_067383 72
R.norvegicus Ush2a 289369   NP_742045 70

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)