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ANO3 anoctamin 3 [ Homo sapiens (human) ]

Gene ID: 63982, updated on 12-May-2016
Official Symbol
ANO3provided by HGNC
Official Full Name
anoctamin 3provided by HGNC
Primary source
HGNC:HGNC:14004
See related
Ensembl:ENSG00000134343 HPRD:15526; MIM:610110; Vega:OTTHUMG00000166096
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]
Orthologs
Location:
11p14.2
Exon count:
30
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (26188821..26668409)
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 uncharacterized LOC105376597 Neighboring gene NEDD8 activating enzyme E1 subunit 1 pseudogene Neighboring gene uncharacterized LOC105376599 Neighboring gene uncharacterized LOC105376598 Neighboring gene mucin 15, cell surface associated Neighboring gene solute carrier family 5 member 12 Neighboring gene BBOX1 antisense RNA 1 Neighboring gene fin bud initiation factor homolog (zebrafish) Neighboring gene gamma-butyrobetaine hydroxylase 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Dystonia 24
MedGen: C3554374 OMIM: 615034 GeneReviews: Not available
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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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT intracellular calcium activated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
intracellular calcium activated chloride channel activity TAS
Traceable Author Statement
more info
 
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 IEA
Inferred from Electronic Annotation
more info
 
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
 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
anoctamin-3
Names
transmembrane protein 16C (eight membrane-spanning domains)

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
  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
    UniProtKB/Swiss-Prot
    Q9BYT9
    Conserved Domains (1) summary
    pfam04547
    Location:238805
    Anoctamin; Calcium-activated chloride channel
  3. NM_031418.3NP_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)
    AC079064, AC083755, AJ300461, BQ430769, DA247850, X81896
    Consensus CDS
    CCDS31447.1
    UniProtKB/Swiss-Prot
    Q9BYT9
    Related
    ENSP00000256737, OTTHUMP00000231884, ENST00000256737, OTTHUMT00000387806
    Conserved Domains (1) summary
    pfam04547
    Location:384951
    Anoctamin; Calcium-activated chloride channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    26188821..26668409
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520283.1XP_011518585.1  

    Conserved Domains (1) summary
    pfam04547
    Location:4451012
    Anoctamin; Calcium-activated chloride channel
  2. XM_011520282.1XP_011518584.1  

    Conserved Domains (1) summary
    pfam04547
    Location:17485
    Anoctamin; Calcium-activated chloride channel

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    26352915..26683853
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)