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ANO5 anoctamin 5 [ Homo sapiens (human) ]

Gene ID: 203859, updated on 3-Dec-2017
Official Symbol
ANO5provided by HGNC
Official Full Name
anoctamin 5provided by HGNC
Primary source
HGNC:HGNC:27337
See related
Ensembl:ENSG00000171714 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]
Expression
Broad expression in heart (RPKM 10.4), brain (RPKM 3.4) and 19 other tissues See more
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?

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
    ENSP00000315371.8, OTTHUMP00000231795, ENST00000324559.8, 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

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  anoctamin-5 isoform X4

    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  anoctamin-5 isoform X2

    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  anoctamin-5 isoform X1

    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  anoctamin-5 isoform X3

    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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