ANO10

Protein identityUniProt · HPA

UniProt accession

Q9NW15

Gene

ANO10

Ensembl

ENSG00000160746

Chromosome

3

Canonical length

660 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Vesicles,Plasma membrane,Primary cilium

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

660 residues, UniProt reviewed canonical sequence.

>Q9NW15|ANO10
     1  MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE
    61  QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT
   121  MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK
   181  KLEDTWYTRF ALKYQPIDSI RGYFGETIAL YFGFLEYFTF ALIPMAVIGL PYYLFVWEDY
   241  DKYVIFASFN LIWSTVILEL WKRGCANMTY RWGTLLMKRK FEEPRPGFHG VLGINSITGK
   301  EEPLYPSYKR QLRIYLVSLP FVCLCLYFSL YVMMIYFDME VWALGLHENS GSEWTSVLLY
   361  VPSIIYAIVI EIMNRLYRYA AEFLTSWENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA
   421  FVLKDMKLLR QSLATLLITS QILNQIMESF LPYWLQRKHG VRVKRKVQAL KADIDATLYE
   481  QVILEKEMGT YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV
   541  FKRPFSEPSA NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEH
   601  ALLALKFILA FAIPDKPRHI QMKLARLEFE SLEALKQQQM KLVTENLKEE PMESGKEKAT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANO10 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

8

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

58 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANO10.

Disease | AllUniProt

Conditions ANO10 is implicated in, by any mechanism.

• Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10) MIM:613728

Disease | GeneticClinVar

75 pathogenic / likely-pathogenic of 562 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive spinocerebellar ataxia 10
• Autosomal recessive cerebellar ataxia
• Abnormal central motor function

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.13

gnomAD pLI

0

gnomAD missense Z

0.32

DepMap mean gene effect

0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chloride transmembrane transport
• monoatomic ion transmembrane transport

Molecular functions

• calcium-activated cation channel activity
• chloride channel activity
• intracellularly calcium-gated chloride channel activity

Cellular components

• cilium
• membrane
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Anoctamin
• Anoctamin, transmembrane domain
• Calcium-activated chloride channel

KeywordsUniProt

• Cell membrane
• Membrane
• Neurodegeneration
• Transmembrane
• Transmembrane helix