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ANO10 anoctamin 10 [ Homo sapiens (human) ]

Gene ID: 55129, updated on 11-Apr-2024

Summary

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Official Symbol
ANO10provided by HGNC
Official Full Name
anoctamin 10provided by HGNC
Primary source
HGNC:HGNC:25519
See related
Ensembl:ENSG00000160746 MIM:613726; AllianceGenome:HGNC:25519
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
SCAR10; TMEM16K
Summary
The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in duodenum (RPKM 19.4), small intestine (RPKM 16.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p22.1-p21.33
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (43365848..43691594, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (43381160..43707182, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (43407340..43733086, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak4622 silencer Neighboring gene RNA, 7SL, cytoplasmic 517, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43410923-43411423 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43413051-43413632 Neighboring gene Sharpr-MPRA regulatory region 1625 Neighboring gene SNF related kinase Neighboring gene SNRK antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:43496575-43497774 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:43520239-43520811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:43532352-43532852 Neighboring gene ribosomal protein L18a pseudogene 9 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:43577638-43578572 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43607028-43607750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43663772-43664424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43664425-43665077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14257 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:43744690-43744834 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:43794737-43795936 Neighboring gene tubulin alpha pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43811957-43812456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43814823-43815349 Neighboring gene abhydrolase domain containing 5, lysophosphatidic acid acyltransferase Neighboring gene uncharacterized LOC107986081 Neighboring gene NANOG hESC enhancer GRCh37_chr3:43896214-43896715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43897541-43898042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43898043-43898542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14261 Neighboring gene uncharacterized LOC124909489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:44055399-44056148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19759 Neighboring gene RNA, U6 small nuclear 367, pseudogene

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. The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K. Bushell SR, et al. Nat Commun, 2019 Sep 2. PMID 31477691, Free PMC Article
  2. Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene. Nieto A, et al. Neurocase, 2019 Oct. PMID 31423897
  3. ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype. Nanetti L, et al. J Neurol, 2019 Feb. PMID 30515630
  4. Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. Mišković ND, et al. Mov Disord, 2016 Dec. PMID 27787937
  5. Role of Ca(2+) in the Stability and Function of TMEM16F and 16K. Ishihara K, et al. Biochemistry, 2016 Jun 14. PMID 27227820

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TMEM16K is an interorganelle regulator of endosomal sorting.
    Title: TMEM16K is an interorganelle regulator of endosomal sorting.
  2. Cognitive impairment seems to be a characteristic of the SCAR10 produced by an ANO10 gene mutation, with a range from mild impairment, especially involving prefrontal systems, to a severe cognitive impairment suggesting widespread cerebral involvement.
    Title: Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene.
  3. Data show that transmembrane protein 16K (TMEM16K) is an endoplasmic reticulum (ER)-resident lipid scramblase with a requirement for short chain lipids and calcium for robust activity.
    Title: The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.
  4. ANO10 mutations cause recessive ataxias.
    Title: ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
  5. This study describe 2 Romani families from Serbia presenting with seemingly dominant (multiple affected individuals in successive generations) cerebellar ataxia, both harboring the same homozygous (recessive) mutation in ANO10, identified by whole-exome sequencing.
    Title: Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.
  6. mutations in ANO10 cause cellular defects and genetic disorders through deranged local Ca(2+) signaling.
    Title: Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling.
  7. results suggest that executive and attentional disorders are impaired in ANO10 mutation
    Title: Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.
  8. ANO10 has a central role in innate immune defense against Borrelia infection.
    Title: A Coding Variant of ANO10, Affecting Volume Regulation of Macrophages, Is Associated with Borrelia Seropositivity.
  9. The detection of mutations in ANO10 indicate that ANO10 defects cause secondary low coenzyme Q10.
    Title: ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
  10. An ANO10 mutation is responsible for autosomal recessive cerebellar ataxia that is mainly characterized by cerebellar atrophy and lack of peripheral neuropathy.
    Title: Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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

Associated conditions

Description Tests
Autosomal recessive spinocerebellar ataxia 10
MedGen: C3150998 OMIM: 613728 GeneReviews: Hereditary Ataxia Overview
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EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
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

Clone Names

  • FLJ10375, MGC47890

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium-activated cation channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
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
  
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 cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic cation transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in monoatomic ion transmembrane transport TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
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
  

General protein information

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Preferred Names
anoctamin-10
Names
transmembrane protein 16K

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_028216.2 RefSeqGene

    Range
    74584..330747
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001204831.3 → NP_001191760.1  anoctamin-10 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences in the 3' coding region and differs in the 3' UTR, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA252209, AC104184, AK096302, AK297949
    Consensus CDS
    CCDS56250.1
    UniProtKB/Swiss-Prot
    Q9NW15
    Related
    ENSP00000396990.2, ENST00000414522.6
    Conserved Domains (1) summary
    pfam04547
    Location:200 → 598
    Anoctamin; Calcium-activated chloride channel

  2. NM_001204832.3 → NP_001191761.1  anoctamin-10 isoform 3

    See identical proteins and their annotated locations for NP_001191761.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) is shorter, compared to isoform 1. Variants 3, 9, and 12 encode the same isoform.
    Source sequence(s)
    AA252209, AC104184, AK096302, AK131223
    Consensus CDS
    CCDS56248.1
    UniProtKB/Swiss-Prot
    Q9NW15
    Related
    ENSP00000379398.3, ENST00000396091.7
    Conserved Domains (1) summary
    pfam04547
    Location:134 → 562
    Anoctamin; Calcium-activated chloride channel

  3. NM_001204833.3 → NP_001191762.1  anoctamin-10 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. The resulting isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AA252209, AC104184, AK096302, AK295969
    Consensus CDS
    CCDS56247.1
    UniProtKB/Swiss-Prot
    Q9NW15
    Related
    ENSP00000394119.2, ENST00000451430.6
    Conserved Domains (1) summary
    pfam04547
    Location:89 → 517
    Anoctamin; Calcium-activated chloride channel

  4. NM_001204834.3 → NP_001191763.1  anoctamin-10 isoform 5

    See identical proteins and their annotated locations for NP_001191763.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (5) is shorter, compared to isoform 1.
    Source sequence(s)
    AA252209, AC104184, AK096302, BC038855
    Consensus CDS
    CCDS56249.1
    UniProtKB/Swiss-Prot
    Q9NW15
    Related
    ENSP00000327767.4, ENST00000350459.8
    Conserved Domains (1) summary
    pfam04547
    Location:155 → 438
    Anoctamin; Calcium-activated chloride channel

  5. NM_001346463.2 → NP_001333392.1  anoctamin-10 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences in the 3' coding region, compared to variant 1. The resulting isoform (6) has the same length but differs in the sequence, compared to isoform 1.
    Source sequence(s)
    AA252209, AC104184, AK096302, CN333637
    UniProtKB/Swiss-Prot
    Q9NW15

  6. NM_001346464.2 → NP_001333393.1  anoctamin-10 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (7) is longer, compared to isoform 1. Variants 7 and 10 encode the same isoform.
    Source sequence(s)
    AA252209, AC104184, AK096302, CN333637
    UniProtKB/Swiss-Prot
    Q9NW15

  7. NM_001346465.2 → NP_001333394.1  anoctamin-10 isoform 8

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (8) is shorter, compared to isoform 1.
    Source sequence(s)
    AA252209, AC104184, AK096302
    UniProtKB/Swiss-Prot
    Q9NW15

  8. NM_001346466.2 → NP_001333395.1  anoctamin-10 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to isoform 1. The resulting isoform (3) is shorter, compared to isoform 1. Variants 3, 9, and 12 encode the same isoform.
    Source sequence(s)
    AA252209, AC104184, AC105903, AK096302, AK131223, DA685104
    Consensus CDS
    CCDS56248.1
    UniProtKB/Swiss-Prot
    Q9NW15

  9. NM_001346467.2 → NP_001333396.1  anoctamin-10 isoform 7

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) differs in the 5' UTR and contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (7) is longer, compared to isoform 1. Variants 7 and 10 encode the same isoform.
    Source sequence(s)
    AA252209, AC104184, AC105903, AK096302, CN333637, DA685104
    UniProtKB/Swiss-Prot
    Q9NW15

  10. NM_001346468.2 → NP_001333397.1  anoctamin-10 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11) differs in the 5' UTR, compared to variant 1. Variants 1 and 11 encode the same isoform.
    Source sequence(s)
    AA252209, AC104184, AK096302, DA551933
    Consensus CDS
    CCDS2710.2
    UniProtKB/Swiss-Prot
    A8K8K3, A8MV74, B3KTZ1, B3KY93, B4DJ83, B4DNK2, B7WP12, C9JHS1, Q8IXX9, Q9NW15

  11. NM_001346469.2 → NP_001333398.1  anoctamin-10 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to isoform 1. The resulting isoform (3) is shorter, compared to isoform 1. Variants 3, 9, and 12 encode the same isoform.
    Source sequence(s)
    AA252209, AC104184, AK096302, AK131223, DA551933
    Consensus CDS
    CCDS56248.1
    UniProtKB/Swiss-Prot
    Q9NW15

  12. NM_018075.5 → NP_060545.3  anoctamin-10 isoform 1

    See identical proteins and their annotated locations for NP_060545.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform (1). Variants 1 and 11 encode the same isoform.
    Source sequence(s)
    AA252209, AC104184, AK096302
    Consensus CDS
    CCDS2710.2
    UniProtKB/Swiss-Prot
    A8K8K3, A8MV74, B3KTZ1, B3KY93, B4DJ83, B4DNK2, B7WP12, C9JHS1, Q8IXX9, Q9NW15
    Related
    ENSP00000292246.3, ENST00000292246.8
    Conserved Domains (1) summary
    pfam04547
    Location:200 → 628
    Anoctamin; Calcium-activated chloride channel

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    43365848..43691594 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006718.2 → XP_016862207.1  anoctamin-10 isoform X6

  2. XM_011533885.4 → XP_011532187.2  anoctamin-10 isoform X1

  3. XM_047448429.1 → XP_047304385.1  anoctamin-10 isoform X6

  4. XM_047448432.1 → XP_047304388.1  anoctamin-10 isoform X9

  5. XM_024453616.2 → XP_024309384.1  anoctamin-10 isoform X3

    Conserved Domains (1) summary
    pfam04547
    Location:200 → 638
    Anoctamin; Calcium-activated chloride channel

  6. XM_047448428.1 → XP_047304384.1  anoctamin-10 isoform X2

  7. XM_047448430.1 → XP_047304386.1  anoctamin-10 isoform X7

  8. XM_011533889.4 → XP_011532191.1  anoctamin-10 isoform X4

    Conserved Domains (1) summary
    pfam04547
    Location:200 → 637
    Anoctamin; Calcium-activated chloride channel

  9. XM_047448434.1 → XP_047304390.1  anoctamin-10 isoform X11

  10. XM_047448435.1 → XP_047304391.1  anoctamin-10 isoform X12

  11. XM_011533890.4 → XP_011532192.1  anoctamin-10 isoform X5

    Conserved Domains (1) summary
    pfam04547
    Location:200 → 637
    Anoctamin; Calcium-activated chloride channel

  12. XM_047448431.1 → XP_047304387.1  anoctamin-10 isoform X8

  13. XM_047448433.1 → XP_047304389.1  anoctamin-10 isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    43381160..43707182 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347048.1 → XP_054203023.1  anoctamin-10 isoform X6

  2. XM_054347044.1 → XP_054203019.1  anoctamin-10 isoform X1

  3. XM_054347049.1 → XP_054203024.1  anoctamin-10 isoform X6

  4. XM_054347052.1 → XP_054203027.1  anoctamin-10 isoform X9

  5. XM_054347045.1 → XP_054203020.1  anoctamin-10 isoform X3

  6. XM_054347050.1 → XP_054203025.1  anoctamin-10 isoform X7

  7. XM_054347046.1 → XP_054203021.1  anoctamin-10 isoform X4

  8. XM_054347054.1 → XP_054203029.1  anoctamin-10 isoform X11

  9. XM_054347055.1 → XP_054203030.1  anoctamin-10 isoform X12

  10. XM_054347047.1 → XP_054203022.1  anoctamin-10 isoform X5

  11. XM_054347051.1 → XP_054203026.1  anoctamin-10 isoform X8

  12. XM_054347053.1 → XP_054203028.1  anoctamin-10 isoform X10

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NW15.2 GenPept UniProtKB/Swiss-Prot:Q9NW15

Gene LinkOut

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