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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

USH1G Gene

protein-coding   GIFtS: 54
GCID: GC17M072912

Usher syndrome 1G (autosomal recessive)

 Explore 10 diseases affiliated with
USH1G via our new
 Human Malady Compendium 
Biological research products
for USH1G
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Usher Syndrome 1G (Autosomal Recessive)1 2     FLJ339241
SANS2 3 5     Sans1
ANKS4A1 2     Usher Syndrome Type-1G Protein2
Scaffold Protein Containing Ankyrin Repeats And SAM Domain2 3     

External Ids:    HGNC: 163561   Entrez Gene: 1245902   Ensembl: ENSG000001820407   OMIM: 6076965   UniProtKB: Q495M93   

Export aliases for USH1G gene to outside databases

Previous GC identifers: GC17U990308 GC17M075971 GC17M073376 GC17M073509 GC17M070423 GC17M068322


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for USH1G:
This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif.
The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a
role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair
bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G).
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: USH1G_HUMAN, Q495M9
Function: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein
that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in
cochlear hair cells. Required for normal hearing

Gene Wiki entry for USH1G


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the USH1G gene promoter:
         Nkx5-1   C/EBPalpha   CREB   CHOP-10   deltaCREB   FOXO1a   ZID   Pax-4a   FOXO1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSH1G promoter sequence
   Search SABiosciences Chromatin IP Primers for USH1G

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USH1G


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.1

USH1G Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USH1G gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M072912:  view genomic region     (about GC identifiers)

Start:
72,912,176 bp from pter      End:
72,919,351 bp from pter
Size:
7,176 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: USH1G_HUMAN, Q495M9 (See protein sequence)
Recommended Name: Usher syndrome type-1G protein  
Size: 461 amino acids; 51489 Da
Subunit: Interacts with CDH23 (By similarity). Interacts with USH1C (via the first PDZ domain) and with USH1G.
Interacts with PDZD7. Interacts with MYO7A. Part of a complex composed of USH1C, USH1G and MYO7A
Subcellular location: Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein (By
similarity). Note=Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via
interaction with CDH23 (By similarity)
3 PDB 3D structures from and Proteopedia for USH1G:
2L7T (3D)        3K1R (3D)        3PVL (3D)    
Secondary accessions: Q8N251

Explore the universe of human proteins at neXtProt for USH1G: NX_Q495M9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q495M9

  • USH1G Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_775748.2  
    ENSEMBL proteins: 
     ENSP00000320076   ENSP00000462568  

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    Uscn Proteins for USH1G

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol IEA--
    GO:0005886plasma membrane IEA--
    GO:0015629actin cytoskeleton ISS12588794


    USH1G for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    USH1G for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR021129 SAM_type1
     IPR020683 Ankyrin_rpt-contain_dom
     IPR002110 Ankyrin_rpt

    Graphical View of Domain Structure for InterPro Entry Q495M9

    ProtoNet protein and cluster: Q495M9

    1 Blocks protein family: IPB001660 Sterile alpha motif SAM

    UniProtKB/Swiss-Prot: USH1G_HUMAN, Q495M9
    Similarity: Contains 3 ANK repeats
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: USH1G_HUMAN, Q495M9
    Function: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein
    that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in
    cochlear hair cells. Required for normal hearing

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19028668
    GO:0042803protein homodimerization activity IEA--


    USH1G for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for USH1G:
     Decreased viability with pacli  Increased cell number in G2M,  

    Animal Models:
         Mouse knock-out Ush1gtm1.2Ugds for USH1G
         4 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Ush1g):
     behavior/neurological  hearing/vestibular/ear  nervous system  vision/eye 

    USH1G for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for USH1G

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for USH1G (Q495M92, 3 ENSP000003200764) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USH1CQ9Y6N92, 3, ENSP000000052264MINT-58187 I2D: score=1 STRING: ENSP00000005226
    MYO7AQ134023, ENSP000003863314I2D: score=1 STRING: ENSP00000386331
    --Q7RTU83I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IMP12588794
    GO:0042472inner ear morphogenesis IEA--
    GO:0045494photoreceptor cell maintenance IMP11398101
    GO:0050953sensory perception of light stimulus IMP11398101
    GO:0050957equilibrioception IMP12588794


    USH1G for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for USH1G
    Search CenterWatch for drugs/clinical trials and news about USH1G 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for USH1G gene: 
    NM_173477.2  

    Unigene Cluster for USH1G:

    Usher syndrome 1G (autosomal recessive)
    Hs.376688  [show with all ESTs]
    Unigene Representative Sequence: NM_173477
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000319642(uc002jme.1 uc010wro.1) ENST00000579243

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    hsa-miR-429 hsa-miR-509-5p hsa-miR-1285 hsa-miR-4267 hsa-miR-214* hsa-miR-133a hsa-miR-891b hsa-miR-200b
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    Additional cDNA sequence: 

    AK091243.1 AK289804.1 AK296899.1 BC101096.2 BC101097.1 BC101098.2 BC101099.1 

    1 DOTS entry:

    DT.100009668 

    6 AceView cDNA sequences:

    NM_173477 AK091243 BM552505 BM045386 BE735997 AX746872 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    USH1G expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    USH1G expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyAfferent ArterioleJuxtaglomerular CellsKidney, Smooth Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See USH1G Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for USH1G

    SOURCE GeneReport for Unigene cluster: Hs.376688

    UniProtKB/Swiss-Prot: USH1G_HUMAN, Q495M9
    Tissue specificity: Expressed in vestibule of the inner ear, eye and small intestine

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for USH1G gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves USH1G1 Usher syndrome 1G (autosomal recessive) 76.2(n)
    77.95(a)
      428684  XM_426242.2  XP_426242.2 
    lizard
    (Anolis carolinensis)
    Reptilia USH1G6
    --
    76(a)
    1 ↔ 1
    2(115131143-115144558)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003303141 Usher syndrome type-1G protein homolog 69.44(n)
    71.55(a)
      100330314  XM_002661269.1  XP_002661315.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sans1 Sans ortholog 48.2(n)
    38.29(a)
      36427  NM_136985.2  NP_610829.1 


    ENSEMBL Gene Tree for USH1G (if available)
    TreeFam Gene Tree for USH1G (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for USH1G gene
    ANKS4B2  
    4 SIMAP similar genes for USH1G using alignment to 2 protein entries:     USH1G_HUMAN (see all proteins):
    ANKS4B    DKFZp761E1322    MTPN    ANKRD10

    USH1G for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/147 NCBI SNPs in USH1G are shown (see all 147    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048946511,2
    Cpathogenic73485065(-) GTCGCC/TGCGTC 2 P L mis10--------
    rs1110334651,2
    C,F,probable-non-pathogenic73487549(-) ACCCCA/GAGCTG 2 K E mis13Minor allele frequency- G:0.04WA NA EU 5989
    rs1110334661,2
    C,F,probable-non-pathogenic73487585(-) TCCGCG/AAGGCG 2 /K /E mis13Minor allele frequency- A:0.04WA NA EU 5953
    rs80673401,2
    C,F,H,--68322425(+) GAGAAT/CAGGAC 1 -- ds500111Minor allele frequency- C:0.25NS NA CSA WA 1191
    rs1139054671,2
    F,--68322526(+) ACAGGT/CACGAT 1 -- ds50013Minor allele frequency- C:0.09CSA WA 122
    rs749432601,2
    --68322695(+) CTGGGG/CCTCTG 1 -- ut311Minor allele frequency- C:0.01EA 120
    rs80677751,2
    C,F,A,H,--68322860(+) GGCACA/GTGTGT 1 -- ut31 ese310Minor allele frequency- G:0.22NS NA CSA WA 1189
    rs728445171,2
    --68323069(+) CACACA/GTGTCA 1 -- ut310--------
    rs1119225481,2
    C,--68323292(+) AAACCT/GACCAA 1 -- ut312Minor allele frequency- G:0.06CSA WA 120
    rs38592101,2
    C--68323325(-) TGTGCG/TTGTGT 1 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for USH1G (72912176 - 72919351 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for USH1G: --
    Human Gene Mutation Database (HGMD): USH1G

    Locus Specific Mutation Databases (LSDB): USH1G

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    USH1G for disorders           About GeneDecksing

    OMIM gene information: 607696   
    OMIM disorders: 606943  
    UniProtKB/Swiss-Prot: USH1G_HUMAN, Q495M9
  • Defects in USH1G are the cause of Usher syndrome type 1G (USH1G) [MIM:606943]. USH is a genetically
  • heterogeneous condition characterized by the association of retinitis pigmentosa and 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). USH1 is characterized by profound congenital sensorineural deafness,
    absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness

    10 diseases for USH1G:    About MalaCards
    usher syndrome type 1g    usher syndrome    riley-day syndrome    usher syndrome, type 1c
    usher syndrome type i    usher syndrome type 3    retinitis    retinal disease
    blindness    usher syndrome, type 1f

    3 diseases from the University of Copenhagen DISEASES database for USH1G:
    Usher syndrome     Retinitis pigmentosa     Sensorineural hearing loss

    1 Novoseek disease relationship for USH1G gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    usher syndrome 95.6 12 17896313 (3), 20142502 (1), 16283141 (1), 19270738 (1) (see all 5)

    GeneTests: USH1G
    Usher Syndrome Type 1

    Genetic Association Database (GAD): USH1G
    Human Genome Epidemiology (HuGE) Navigator: USH1G (4 documents)

    Export disorders for USH1G gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for USH1G gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with USH1G)
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    1. Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. (PubMed id 12588794)1, 2, 3 Weil D.... Petit C. (2003)
    2. A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. (PubMed id 16283141)1, 2, 9 Kalay E.... Kremer H. (2005)
    3. The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. (PubMed id 20142502)1, 2, 9 Yan J....Zhang M. (2010)
    4. Structure of MyTH4-FERM domains in myosin VIIa tail b ound to cargo. (PubMed id 21311020)1, 2 Wu L....Zhang M. (2011)
    5. Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment. (PubMed id 19028668)1, 2 Schneider E....Haaf T. (2009)
    6. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PubMed id 15660226)1, 4 Ouyang X.M.... Liu X.Z. (2005)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. Screening of the USH1G gene among Spanish patients with Usher syndrome. Lack of mutations and evidence of a minor role in the pathogenesis of the syndrome. (PubMed id 17896313)1, 9 Aller E....Millan J. (2007)
    10. The molecular genetics of Usher syndrome. (PubMed id 12786748)1, 9 Ahmed Z.M.... Wilcox E.R. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 124590 HGNC: 16356 AceView: USH1G Ensembl:ENSG00000182040 euGenes: HUgn124590
    ECgene: USH1G H-InvDB: USH1G

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for USH1G Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USH1G

    (Patent information from GeneIP,
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    Patent Information for USH1G gene:
    Search GeneIP for patents involving USH1G

    GeneCards and IP:
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