ANO5 anoctamin 5 [Homo sapiens] - Gene

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Summary

Official Symbol: ANO5provided by HGNC
Official Full Name: anoctamin 5provided by HGNC
Primary source: 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]

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Genomic context

Location :: 11p14.3

Sequence :: Chromosome: 11; NC_000011.9 (22214722..22304913)

See ANO5 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Mutations are distributed all over the gene, indicating that muscular dystrophy caused by ANO5 can be expected to occur in all populations
Title: Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
mutation in patients with a distal myopathy;(a new separate clinical, genetic and histopathologic entity)
Title: A new distal myopathy with mutation in anoctamin 5.
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Title: A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
Recessive mutations were identified in ANO5 that result in a proximal limb-girdle muscular dystrophy (LGMD2L) in three French Canadian families and in a distal non-dysferlin Miyoshi myopathy (MMD3) in Dutch and Finnish families.
Title: Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Muscular dystrophy, limb-girdle, type 2L

MIM: 611307

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:128482	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
chloride channel activity	IEA Inferred from Electronic Annotation more info
ion channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
chloride channel complex	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: anoctamin-5

Names: anoctamin-5; transmembrane protein 16E; integral membrane protein GDD1; gnathodiaphyseal dysplasia 1 protein; limb girdle muscular dystrophy 2L (autosomal recessive)

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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

NG_015844.1 RefSeqGene

Range

5001..95192

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001142649.1 → NP_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 (1) summary

pfam04547
Location:291 – 868
Blast Score: 1232

Anoctamin; Calcium-activated chloride channel
NM_213599.2 → NP_998764.1 anoctamin-5 isoform a

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 (1) summary

pfam04547
Location:292 – 869
Blast Score: 1232

Anoctamin; Calcium-activated chloride channel

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

22214722..22304913

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

21897150..21988511

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC104009.7 (27266..32221)	None
genomic	AC107886.2 (52170..133891)	None
genomic	CH471064.2	EAW68325.1
mRNA	AB125267.1	BAD17859.1
mRNA	AK092680.1	None
mRNA	AK125046.1	None
mRNA	AL832374.1	None
mRNA	AL833271.1	None
mRNA	BU742779.1	None
mRNA	N89918.1	None
other-genetic	BC156325.1	AAI56326.1
other-genetic	BC172489.1	AAI72489.1