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ANO5 anoctamin 5 [ Homo sapiens (human) ]

Gene ID: 203859, updated on 11-Apr-2024

Summary

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

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Location:
11p14.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (22192473..22283357)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (22313008..22403882)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (22214631..22304903)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723370 Neighboring gene uncharacterized LOC105376587 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:22042648-22043247 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20715 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:22086967-22087603 Neighboring gene uncharacterized LOC124902645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4531 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4529 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4532 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:22255998-22256992 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_20787 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:22306158-22307357 Neighboring gene SLC17A6 divergent transcript Neighboring gene solute carrier family 17 member 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer. Fukami T, et al. World J Gastroenterol, 2022 Aug 28. PMID 36157935, Free PMC Article
  2. Muscle biopsy and MRI findings in ANO5-related myopathy. Holm-Yildiz S, et al. Muscle Nerve, 2021 Dec. PMID 34550615
  3. Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency. Khawajazada T, et al. Eur J Neurol, 2021 Sep. PMID 34145687
  4. Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy. Mavillard F, et al. Clin Genet, 2021 Jul. PMID 33818761
  5. Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations. Vázquez J, et al. J Neuromuscul Dis, 2020. PMID 32925086

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
    Title: Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.
  2. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
    Title: Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
  3. Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer.
    Title: Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer.
  4. Muscle biopsy and MRI findings in ANO5-related myopathy.
    Title: Muscle biopsy and MRI findings in ANO5-related myopathy.
  5. Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
    Title: Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.
  6. TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
    Title: TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.
  7. Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency.
    Title: Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency.
  8. ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.
    Title: ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.
  9. ANO5 ensures trafficking of annexins in wounded myofibers.
    Title: ANO5 ensures trafficking of annexins in wounded myofibers.
  10. Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
    Title: Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.
Submit: New GeneRIF Correction See all GeneRIFs (46)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT enables intracellularly calcium-gated chloride channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables intracellularly calcium-gated chloride channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables intracellularly calcium-gated chloride channel activity TAS
Traceable Author Statement
more info
  
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in monoatomic ion transmembrane transport TAS
Traceable Author Statement
more info
  
involved_in plasma membrane repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in vesicle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_001142649.2 → 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
    UniProtKB/TrEMBL
    A0A804HJT6
    Conserved Domains (2) summary
    pfam04547
    Location:291 → 868
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:71 → 288
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

  2. NM_001410963.1 → NP_001397892.1  anoctamin-5 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC104009, AC107886
    Consensus CDS
    CCDS91450.1
    UniProtKB/TrEMBL
    A0A804HL91
    Related
    ENSP00000508251.1, ENST00000682341.1

  3. NM_001410964.1 → NP_001397893.1  anoctamin-5 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC104009, AC107886
    Consensus CDS
    CCDS91451.1
    UniProtKB/TrEMBL
    A0A804HKP2
    Related
    ENSP00000508009.1, ENST00000684663.1

  4. NM_213599.3 → NP_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
    UniProtKB/TrEMBL
    A0A804HJT6
    Related
    ENSP00000315371.9, ENST00000324559.9
    Conserved Domains (2) summary
    pfam04547
    Location:292 → 868
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:72 → 289
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    22192473..22283357
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005252822.5 → XP_005252879.1  anoctamin-5 isoform X1

    UniProtKB/TrEMBL
    A0A804HLK6
    Conserved Domains (2) summary
    pfam04547
    Location:266 → 843
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:46 → 263
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

  2. XM_047426522.1 → XP_047282478.1  anoctamin-5 isoform X2

  3. XM_011519949.3 → XP_011518251.1  anoctamin-5 isoform X3

    UniProtKB/TrEMBL
    A0A804HLK6
    Related
    ENSP00000508408.1, ENST00000683437.1
    Conserved Domains (2) summary
    pfam04547
    Location:261 → 838
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:41 → 258
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    22313008..22403882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367965.1 → XP_054223940.1  anoctamin-5 isoform X1

  2. XM_054367966.1 → XP_054223941.1  anoctamin-5 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q75V66.1 GenPept UniProtKB/Swiss-Prot:Q75V66

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