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ANO5 anoctamin 5 [ Homo sapiens (human) ]

Gene ID: 203859, updated on 4-Jun-2020

Summary

Official Symbol
ANO5provided by HGNC
Official Full Name
anoctamin 5provided by HGNC
Primary source
HGNC:HGNC:27337
See related
Ensembl:ENSG00000171714 MIM:608662
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; LGMDR12; 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

Genomic context

See ANO5 in Genome Data Viewer
Location:
11p14.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (22192485..22283357)
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

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular calcium activated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT intracellular calcium activated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
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
 

General protein information

Preferred Names
anoctamin-5
Names
gnathodiaphyseal dysplasia 1 protein
integral membrane protein GDD1
transmembrane protein 16E

NCBI Reference Sequences (RefSeq)

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_001142649.2NP_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
    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_213599.3NP_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
    Consensus CDS
    CCDS31444.1
    UniProtKB/Swiss-Prot
    Q75V66
    Related
    ENSP00000315371.8, ENST00000324559.8
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    22192485..22283357
    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

    Related
    ENST00000648804.1
    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
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