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ANO3 anoctamin 3 [ Homo sapiens (human) ]

Gene ID: 63982, updated on 1-Aug-2020

Summary

Official Symbol
ANO3provided by HGNC
Official Full Name
anoctamin 3provided by HGNC
Primary source
HGNC:HGNC:14004
See related
Ensembl:ENSG00000134343 MIM:610110
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
DYT23; DYT24; TMEM16C; C11orf25; GENX-3947
Summary
The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Expression
Biased expression in brain (RPKM 4.4), fat (RPKM 2.2) and 7 other tissues See more
Orthologs

Genomic context

See ANO3 in Genome Data Viewer
Location:
11p14.3-p14.2
Exon count:
33
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (26189123..26667907)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (26210458..26684836)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2699 Neighboring gene NEDD8 activating enzyme E1 subunit 1 pseudogene Neighboring gene uncharacterized LOC105376598 Neighboring gene ANO3 antisense RNA 1 Neighboring gene uncharacterized LOC107987160 Neighboring gene mucin 15, cell surface associated Neighboring gene solute carrier family 5 member 12 Neighboring gene 11p14.2 distal LINE-mediated recombination region Neighboring gene fin bud initiation factor homolog

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

Associated conditions

Description Tests
Dystonia 24
MedGen: C3554374 OMIM: 615034 GeneReviews: Hereditary Dystonia Overview
Compare labs

NHGRI GWAS Catalog

Description
Common body mass index-associated variants confer risk of extreme obesity.
NHGRI GWA Catalog
Common variants associated with general and MMR vaccine-related febrile seizures.
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 
NOT intracellular calcium activated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid scramblase activity IEA
Inferred from Electronic Annotation
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium activated galactosylceramide scrambling IEA
Inferred from Electronic Annotation
more info
 
calcium activated phosphatidylcholine scrambling IEA
Inferred from Electronic Annotation
more info
 
chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
detection of mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
detection of temperature stimulus IEA
Inferred from Electronic Annotation
more info
 
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
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 TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
anoctamin-3
Names
dystonia 23
transmembrane protein 16C (eight membrane-spanning domains)

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_042856.1 RefSeqGene

    Range
    5001..479167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001313726.1NP_001300655.1  anoctamin-3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC079064, AC083755, AJ300461, AK304781, BF591994, BQ430769, DA247850, X81896
    UniProtKB/Swiss-Prot
    Q9BYT9
    UniProtKB/TrEMBL
    B7Z9B9
    Related
    ENSP00000500506.1, ENST00000672621.1
    Conserved Domains (2) summary
    pfam04547
    Location:4451011
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:218442
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  2. NM_001313727.1NP_001300656.1  anoctamin-3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC079064, AC083755, AJ300461, BP219022, BQ430769, X81896
    Consensus CDS
    CCDS81557.1
    UniProtKB/Swiss-Prot
    Q9BYT9
    Related
    ENSP00000432394.1, ENST00000531568.1
    Conserved Domains (2) summary
    pfam04547
    Location:238803
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:17235
    Anoct_dimer; Dimerisation domain of Ca+-activated chloride-channel, anoctamin
  3. NM_031418.4NP_113606.2  anoctamin-3 isoform 2

    See identical proteins and their annotated locations for NP_113606.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, contains an alternate 5' terminal exon, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC021698, AC079064, AC083755, AJ300461, BQ430769, DA247850, X81896
    Consensus CDS
    CCDS31447.1
    UniProtKB/Swiss-Prot
    Q9BYT9
    Related
    ENSP00000256737.3, ENST00000256737.8
    Conserved Domains (2) summary
    pfam04547
    Location:384949
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:163381
    Anoct_dimer; Dimerisation domain of Ca+-activated chloride-channel, anoctamin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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
    26189123..26667907
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018118.2XP_016873607.1  anoctamin-3 isoform X1

    UniProtKB/Swiss-Prot
    Q9BYT9
    Conserved Domains (2) summary
    pfam04547
    Location:238803
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:17235
    Anoct_dimer; Dimerisation domain of Ca+-activated chloride-channel, anoctamin
  2. XM_017018119.2XP_016873608.1  anoctamin-3 isoform X2

  3. XM_011520282.3XP_011518584.1  anoctamin-3 isoform X3

    Conserved Domains (1) summary
    pfam04547
    Location:17484
    Anoctamin; Calcium-activated chloride channel
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