ANO5
entrez
203859
canonical
uniprot
Q75V66
canonical
ensembl
ENSG00000171714
resolver
ensp
ENSP00000315371
resolver
ensp
ENSP00000508009
resolver
ensp
ENSP00000508251
resolver
ensp
ENSP00000548963
resolver
ensp
ENSP00000548964
resolver
ensp
ENSP00000609088
resolver
ensp
ENSP00000656377
resolver
ensp
ENSP00000746253
resolver
enst
ENST00000324559
resolver
enst
ENST00000682341
resolver
enst
ENST00000684663
resolver
genesymbol
ANO5
resolver
genesymbol_syn
GDD1
resolver
genesymbol_syn
TMEM16E
resolver
hgnc
HGNC:27337
resolver
uniprot
A0A804HKP2
resolver
uniprot
A0A804HL91
resolver
uniprot_entry
A0A804HKP2_HUMAN
resolver
uniprot_entry
A0A804HL91_HUMAN
resolver
uniprot_entry
ANO5_HUMAN
resolver
amino_acid_sequence
MGDPDLLEVLAEEGEKVNKHIDYSFQMSEQSLSSRETSFLINEETMPAKRFNLFLRRRLMFQKNQQSKDSIFFRDGIRQIDFVLSYVDDVKKDAELKAERRKEFETNLRKTGLELEIEDKRDSEDGRTYFVKIHAPWEVLVTYAEVLGIKMPIKESDIPRPKHTPISYVLGPVRLPLSVKYPHPEYFTAQFSRHRQELFLIEDQATFFPSSSRNRIVYYILSRCPFGIEDGKKRFGIERLLNSNTYSSAYPLHDGQYWKPSEPPNPTNERYTLHQNWARFSYFYKEQPLDLIKNYYGEKIGIYFVFLGFYTEMLFFAAVVGLACFIYGLLSMEHNTSSTEICDPEIGGQMIMCPLCDQVCDYWRLNSTCLASKFSHLFDNESTVFFAIFMGIWVTLFLEFWKQRQARLEYEWDLVDFEEEQQQLQLRPEFEAMCKHRKLNAVTKEMEPYMPLYTRIPWYFLSGATVTLWMSLVVTSMVAVIVYRLSVFATFASFMESDASLKQVKSFLTPQITTSLTGSCLNFIVILILNFFYEKISAWITKMEIPRTYQEYESSLTLKMFLFQFVNFYSSCFYVAFFKGKFVGYPGKYTYLFNEWRSEECDPGGCLIELTTQLTIIMTGKQIFGNIKEAIYPLALNWWRRRKARTNSEKLYSRWEQDHDLESFGPLGLFYEYLETVTQFGFVTLFVASFPLAPLLALINNIVEIRVDAWKLTTQYRRTVASKAHSIGVWQDILYGMAVLSVATNAFIVAFTSDIIPRLVYYYAYSTNATQPMTGYVNNSLSVFLIADFPNHTAPSEKRDFITCRYRDYRYPPDDENKYFHNMQFWHVLAAKMTFIIVMEHVVFLVKFLLAWMIPDVPKDVVERIKREKLMTIKILHDFELNKLKENLGINSNEFAKHVMIEENKAQLAKSTL
uniprot
proteins
disease_involvement
DISEASE: Gnathodiaphyseal dysplasia (GDD) [MIM:166260]: Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. {ECO:0000269|PubMed:15124103, ECO:0000269|PubMed:23047743, ECO:0000269|PubMed:27216912}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Muscular dystrophy, limb-girdle, autosomal recessive 12 (LGMDR12) [MIM:611307]: An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269|PubMed:20096397, ECO:0000269|PubMed:22499103, ECO:0000269|PubMed:25864073, ECO:0000269|PubMed:25891276, ECO:0000269|PubMed:32925086, ECO:0000269|PubMed:33496727}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]: A late-onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. {ECO:0000269|PubMed:20096397, ECO:0000269|PubMed:22499103}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in plasma membrane repair in a process involving annexins (PubMed:33496727). Does not exhibit calcium-activated chloride channel (CaCC) activity. {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:23047743, ECO:0000269|PubMed:33496727}.
uniprot
proteins
mass_dalton
107188
uniprot
proteins
protein_family
Anoctamin family
uniprot
proteins
pubmed
15067359
uniprot
proteins
pubmed
15124103
uniprot
proteins
pubmed
20056604
uniprot
proteins
pubmed
20096397
uniprot
proteins
pubmed
21607626
uniprot
proteins
pubmed
21642943
uniprot
proteins
pubmed
22075693
uniprot
proteins
pubmed
22302790
uniprot
proteins
pubmed
22499103
uniprot
proteins
pubmed
22946059
uniprot
proteins
pubmed
23047743
uniprot
proteins
pubmed
25864073
uniprot
proteins
pubmed
25891276
uniprot
proteins
pubmed
27216912
uniprot
proteins
pubmed
32925086
uniprot
proteins
pubmed
33496727
uniprot
proteins
sequence_length
913
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15124103}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}; Multi-pass membrane protein {ECO:0000255}. Note=Colocalized with CALR/calreticulin (PubMed:15124103). Shows an intracellular localization according to PubMed:22075693. {ECO:0000269|PubMed:15124103, ECO:0000269|PubMed:22075693}.
uniprot
proteins
transmembrane_region
TRANSMEM 300..320; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 381..401; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 463..483; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 512..532; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 558..578; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 680..700; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 733..753; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 835..855; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins