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ANO10 anoctamin 10 [ Homo sapiens (human) ]

Gene ID: 55129, updated on 6-Sep-2020

Summary

Official Symbol
ANO10provided by HGNC
Official Full Name
anoctamin 10provided by HGNC
Primary source
HGNC:HGNC:25519
See related
Ensembl:ENSG00000160746 MIM:613726
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

Genomic context

See ANO10 in Genome Data Viewer
Location:
3p22.1-p21.33
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (43365848..43691594, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (43407818..43663560, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 517, pseudogene Neighboring gene SNF related kinase Neighboring gene SNRK antisense RNA 1 Neighboring gene uncharacterized LOC107986080 Neighboring gene Sharpr-MPRA regulatory region 3370 Neighboring gene ribosomal protein L18a pseudogene Neighboring gene tubulin alpha pseudogene 3 Neighboring gene abhydrolase domain containing 5, lysophosphatidic acid acyltransferase Neighboring gene uncharacterized LOC105377054 Neighboring gene uncharacterized LOC107986081

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
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available
Spinocerebellar ataxia, autosomal recessive 10
MedGen: C3150998 OMIM: 613728 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10375, MGC47890

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
cation transport IDA
Inferred from Direct Assay
more info
PubMed 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
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
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
anoctamin-10
Names
transmembrane protein 16K

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_028216.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001204831.3NP_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:200598
    Anoctamin; Calcium-activated chloride channel
  2. NM_001204832.3NP_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:134562
    Anoctamin; Calcium-activated chloride channel
  3. NM_001204833.3NP_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:89517
    Anoctamin; Calcium-activated chloride channel
  4. NM_001204834.3NP_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:155438
    Anoctamin; Calcium-activated chloride channel
  5. NM_001346463.2NP_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_001346464.2NP_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_001346465.2NP_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_001346466.2NP_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_001346467.2NP_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_001346468.2NP_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
    Q9NW15
    UniProtKB/TrEMBL
    A0A024R2S0
  11. NM_001346469.2NP_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_018075.5NP_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
    Q9NW15
    UniProtKB/TrEMBL
    A0A024R2S0
    Related
    ENSP00000292246.3, ENST00000292246.8
    Conserved Domains (1) summary
    pfam04547
    Location:200628
    Anoctamin; Calcium-activated chloride channel

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017006717.2XP_016862206.1  anoctamin-10 isoform X1

  2. XM_017006719.2XP_016862208.1  anoctamin-10 isoform X7

  3. XM_024453617.1XP_024309385.1  anoctamin-10 isoform X8

    Conserved Domains (1) summary
    pfam04547
    Location:134533
    Anoctamin; Calcium-activated chloride channel
  4. XM_017006718.1XP_016862207.1  anoctamin-10 isoform X6

  5. XM_011533885.3XP_011532187.2  anoctamin-10 isoform X2

  6. XM_024453616.1XP_024309384.1  anoctamin-10 isoform X3

    Conserved Domains (1) summary
    pfam04547
    Location:200638
    Anoctamin; Calcium-activated chloride channel
  7. XM_011533889.3XP_011532191.1  anoctamin-10 isoform X4

    Conserved Domains (1) summary
    pfam04547
    Location:200637
    Anoctamin; Calcium-activated chloride channel
  8. XM_011533890.3XP_011532192.1  anoctamin-10 isoform X5

    Conserved Domains (1) summary
    pfam04547
    Location:200637
    Anoctamin; Calcium-activated chloride channel

RNA

  1. XR_001740190.2 RNA Sequence

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