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    ANO5 anoctamin 5 [ Homo sapiens (human) ]

    Gene ID: 203859, updated on 26-Nov-2016
    Official Symbol
    ANO5provided by HGNC
    Official Full Name
    anoctamin 5provided by HGNC
    Primary source
    HGNC:HGNC:27337
    See related
    Ensembl:ENSG00000171714 HPRD:10558; MIM:608662; Vega:OTTHUMG00000166051
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GDD1; LGMD2L; TMEM16E
    Summary
    This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
    Orthologs
    Location:
    11p14.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (22192485..22283367)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (22214199..22304913)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984320 Neighboring gene uncharacterized LOC102723370 Neighboring gene uncharacterized LOC105376587 Neighboring gene solute carrier family 17 member 6 Neighboring gene uncharacterized LOC105376589 Neighboring gene long intergenic non-protein coding RNA 1495

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Gnathodiaphyseal dysplasia
    MedGen: C1833736 OMIM: 166260 GeneReviews: Not available
    Compare labs
    Limb-girdle muscular dystrophy, type 2L
    MedGen: C1969785 OMIM: 611307 GeneReviews: Not available
    Compare labs
    Miyoshi muscular dystrophy 3 Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
    NHGRI GWA Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    chloride transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    anoctamin-5
    Names
    gnathodiaphyseal dysplasia 1 protein
    integral membrane protein GDD1
    transmembrane protein 16E

    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.

    Genomic

    1. NG_015844.1 RefSeqGene

      Range
      5001..95192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_868

    mRNA and Protein(s)

    1. NM_001142649.1NP_001136121.1  anoctamin-5 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame segment, compared to variant 1, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AB125267, AC104009, AC107886, AK125046, AL832374, AL833271, BU742779, N89918
      UniProtKB/Swiss-Prot
      Q75V66
      Conserved Domains (2) summary
      pfam04547
      Location:291868
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:71288
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    2. NM_213599.2NP_998764.1  anoctamin-5 isoform a

      See identical proteins and their annotated locations for NP_998764.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB125267, AC104009, AC107886, AK125046, AL833271, BU742779, N89918
      Consensus CDS
      CCDS31444.1
      UniProtKB/Swiss-Prot
      Q75V66
      Related
      ENSP00000315371, OTTHUMP00000231795, ENST00000324559, OTTHUMT00000387615
      Conserved Domains (2) summary
      pfam04547
      Location:292869
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:72289
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      22192485..22283367
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005252822.4XP_005252879.1  

      Conserved Domains (2) summary
      pfam04547
      Location:266843
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:46263
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    2. XM_005252821.3XP_005252878.2  

      Conserved Domains (2) summary
      pfam04547
      Location:277854
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:57274
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    3. XM_005252820.3XP_005252877.2  

      Conserved Domains (2) summary
      pfam04547
      Location:278855
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:58275
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    4. XM_011519949.2XP_011518251.1  

      Conserved Domains (2) summary
      pfam04547
      Location:261838
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:41258
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      22214324..22304648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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