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FLASH GENE
Symbol USH2A contributors: mct/shn - updated : 23-05-2015
HGNC name Usher syndrome 2A (autosomal recessive, mild)
HGNC id 12601
Corresponding disease
ARRP15 retinitis pigmentosa autosomal recessive, 15, non syndromic
USH2A Usher syndrome, type II A
Location 1q41      Physical location : 215.796.235 - 216.596.738
Synonym name
  • usherin
  • usherin, putative extracellular matrix protein
  • Usher syndrome type-2A protein
  • Usher syndrome type IIa protein
  • Synonym symbol(s) US2, USH2, dJ1111A8.1, RP39
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head
    STRUCTURE 800.50 kb     72 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cent - D1S474 - D1S2827 - USH2A USH2A - D1S229 - D1S490 - qter
    Physical map
    FLJ32796 1q32.3 hypothetical protein FLJ32796 LOC388735 1 LOC388735 SNFT 1q32.3 Jun dimerization protein p21SNFT DC8 1q41 DKFZP566O1646 protein LOC388736 1 similar to ribosomal protein S5; 40S ribosomal protein S5 LOC149643 1q32.3 hypothetical LOC149643 FLVCR 1q32.1-q32.2 hypothetical LOC149643 FLJ12505 1q32.3 hypothetical protein FLJ12505 LOC90806 1q32.3 similar to RIKEN cDNA 2610307I21 RPS6KC1 1q41 ribosomal protein S6 kinase, 52kDa, polypeptide 1 LOC391161 1 similar to ribosomal protein L31 PROX1 1q32.2-q32.3 prospero-related homeobox 1 SMYD2 1q32.3 SET and MYND domain containing 2 PTPN14 1q32.2 protein tyrosine phosphatase, non-receptor type 14 CENPF 1q32-q41 centromere protein F, 350/400ka (mitosin) LOC391162 1 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) KCNK2 1q41 potassium channel, subfamily K, member 2 LOC391163 1 similar to Voltage-dependent anion-selective channel protein 1 (VDAC-1) (mVDAC1) (mVDAC5) (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) KCTD3 1q41 potassium channel tetramerisation domain containing 3 LOC388737 1 similar to bA275K8.2 (novel protein with weak homology to human Usher syndrome type 2A and NGCAM-related cell adhesion molecule proteins and rat glomerular mesangial cell receptor protein-tyrosine phosphatase) LOC391164 1 similar to protein tyrosine phosphatase, receptor type, Q isoform 1 precursor; glomerular mesangial cell receptor protein-tyrosine phosphatase LOC200125 1q41 similar to laminin A-chain USH2A 1q41 Usher syndrome 2A (autosomal recessive, mild) MRPS18BP1 6q22.33 mitochondrial ribosomal protein S17 pseudogene 5 ESRRG 1q32 estrogen-related receptor gamma FLJ10252 1q41 hypothetical protein FLJ10252 LOC128153 1q41 hypothetical protein BC014608 UBBP2 1q32 ubiquitin B pseudogene 2 CGI-115 1q41 CGI-115 protein LOC391165 1 similar to 40S ribosomal protein S26 TGFB2 1q41 transforming growth factor, beta 2 LYPLAL1 1q41 lysophospholipase-like 1 LOC388738 1 LOC388738 LOC388739 1 similar to KIAA0663 gene product
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    72 splicing 18883 575.5 5202 . retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis . in the ridges of the periciliary complex, connecting cilium of photoreceptor cells. In the retina in the Bruch's layer choroid capillary basement membranes Van Wijk (2004), Maerker (2008) 12433396
  • having an essential impact for the maintenance of photoreceptor cell survival
  • 21 splicing 6332 170.9 1546 fetal eye, retina, cochlea and heart, skeleton, tongue, kidney, small and large intestine, testis, liver , pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus lung and at very low level in brain, CNS - 12433396
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinnercochlea highly Homo sapiens
    Nervousbrain   moderately Homo sapiens
    Urinarykidney   moderately Homo sapiens
    Visualeyeretina  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier liningretinal pigment epithelium (RPE) specific
    Epithelialsensoryvisualphotoreceptor layerspecific
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumcochlea cell
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines Y79 human retinoblastoma cells (
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text cochlea, eye, brain, kidney, placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal thrombospondin-like domain
  • a signal peptide
  • 2 laminin G-like domains
  • a pentaxin domain
  • a laminin-N-terminal domain
  • 10 laminin EGF-like domains
  • four fibronectin type III (FN3) repeats
  • cysteine rich structural domain, containing 12 dicysteine repeats
  • 35 fibronectin type-III domains and a transmembrane region
  • an intracellular domain
  • a PDZ-binding domain in the C-terminal
  • laminin EGF motifs
  • HOMOLOGY
    interspecies homolog to laminin
    ortholog to Ush2a, Mus musculus
    ortholog to Ush2a, Rattus norvegicus
    ortholog to USH2A, Pan troglodytes
    Homologene
    FAMILY
    CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • basement membrane
  • USH2A, MASS1 and NBC3 are co-expressed with the USH1-protein harmonin in the synaptic terminals of both retinal photoreceptors and inner ear hair cells
  • basic FUNCTION
  • involved in hearing and vision
  • scaffold protein, may be important in development and homeostasis of the inner ear and retina
  • required for the long-term maintenance of retinal photoreceptors and for the development of cochlear hair cells (Liu et al, 2007)
  • may be important in development and homeostasis of the inner ear and retina
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/hearing , sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • whirlin, WHRN (van Wijk et al, 2006)
  • harmonin
  • fibronectin in retinal basement membranes
  • Collagen IV (
  • DFNB31 (
  • interactions between GPR98, WHRN, USH2A, VEZT further support their involvement in a molecular complex associated with the ankle links and scaffolded by whirlin (Michalski 2007)
  • whirlin (DFNB31) and usherin (USH2A) directly interacted with each other through the two N-terminal PDZ domains of whirlin and the C-terminal PDZ-binding motif of usherin (Yang 2010)
  • USH2A, ADGRV1, WHRN and PDZD7, interact to assemble a multiprotein complex at the ankle link region of the mechanosensitive stereociliary bundle in hair cells
  • direct interaction between USH1G and the transmembrane adhesion protein USH2A and both assemble into a ternary USH1/USH2 complex together with WHRN via mutual interactions
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) USH2A , ARRP15
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Ush2a knockout in mice to progressive photoreceptor degeneration and a moderate but nonprogressive hearing impairment (Liu et al, 2007)