Seroatlas · Human Serome Atlas

ANO5

Anoctamin-5

Also known as: ANO5_HUMAN, GDD1, LGMD2L, TMEM16E

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q75V66
Gene: ANO5
Ensembl: ENSG00000171714
Chromosome: 11
Canonical length: 913 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

913 residues, UniProt reviewed canonical sequence.

>Q75V66|ANO5
     1  MGDPDLLEVL AEEGEKVNKH IDYSFQMSEQ SLSSRETSFL INEETMPAKR FNLFLRRRLM
    61  FQKNQQSKDS IFFRDGIRQI DFVLSYVDDV KKDAELKAER RKEFETNLRK TGLELEIEDK
   121  RDSEDGRTYF VKIHAPWEVL VTYAEVLGIK MPIKESDIPR PKHTPISYVL GPVRLPLSVK
   181  YPHPEYFTAQ FSRHRQELFL IEDQATFFPS SSRNRIVYYI LSRCPFGIED GKKRFGIERL
   241  LNSNTYSSAY PLHDGQYWKP SEPPNPTNER YTLHQNWARF SYFYKEQPLD LIKNYYGEKI
   301  GIYFVFLGFY TEMLFFAAVV GLACFIYGLL SMEHNTSSTE ICDPEIGGQM IMCPLCDQVC
   361  DYWRLNSTCL ASKFSHLFDN ESTVFFAIFM GIWVTLFLEF WKQRQARLEY EWDLVDFEEE
   421  QQQLQLRPEF EAMCKHRKLN AVTKEMEPYM PLYTRIPWYF LSGATVTLWM SLVVTSMVAV
   481  IVYRLSVFAT FASFMESDAS LKQVKSFLTP QITTSLTGSC LNFIVILILN FFYEKISAWI
   541  TKMEIPRTYQ EYESSLTLKM FLFQFVNFYS SCFYVAFFKG KFVGYPGKYT YLFNEWRSEE
   601  CDPGGCLIEL TTQLTIIMTG KQIFGNIKEA IYPLALNWWR RRKARTNSEK LYSRWEQDHD
   661  LESFGPLGLF YEYLETVTQF GFVTLFVASF PLAPLLALIN NIVEIRVDAW KLTTQYRRTV
   721  ASKAHSIGVW QDILYGMAVL SVATNAFIVA FTSDIIPRLV YYYAYSTNAT QPMTGYVNNS
   781  LSVFLIADFP NHTAPSEKRD FITCRYRDYR YPPDDENKYF HNMQFWHVLA AKMTFIIVME
   841  HVVFLVKFLL AWMIPDVPKD VVERIKREKL MTIKILHDFE LNKLKENLGI NSNEFAKHVM
   901  IEENKAQLAK STL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANO5 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): 0.29
Highest tissue expression: 62 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 62 nTPM
tongue: 47 nTPM
heart muscle: 23 nTPM
parathyroid gland: 16 nTPM
thyroid gland: 4.4 nTPM
choroid plexus: 4.3 nTPM

Single-cell type

myonuclei: 1,192 nCPM
cardiomyocytes: 470 nCPM
bergmann glia: 206 nCPM
adrenal medulla cells: 170 nCPM
brain inhibitory neurons: 142 nCPM
oligodendrocyte progenitor cells: 125 nCPM

Immune cell

classical monocyte: 0.1 nTPM
basophil: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebral cortex: 19 nTPM
hippocampal formation: 13 nTPM
choroid plexus: 12 nTPM
medulla oblongata: 12 nTPM
midbrain: 11 nTPM
pons: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANO5.

Disease | AllUniProt

Conditions ANO5 is implicated in, by any mechanism.

Gnathodiaphyseal dysplasia (GDD) MIM:166260
Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) MIM:611307
Miyoshi muscular dystrophy 3 (MMD3) MIM:613319

Disease | GeneticClinVar

187 pathogenic / likely-pathogenic of 1,513 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive limb-girdle muscular dystrophy type 2L
Gnathodiaphyseal dysplasia
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
ANO5-related disorder

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): 0.95
gnomAD pLI: 0
gnomAD missense Z: 0.12
DepMap mean gene effect: -0.03
DepMap dependency class: selective

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ANO5 as an antibody target. Whether an autoantibody or antibody against ANO5 could matter depends on whether native ANO5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ANO5 is annotated at the cell surface, where native ANO5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label ANO5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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