Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	203859
Gene name Gene Name - the full gene name approved by the HGNC.	Anoctamin 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ANO5
Synonyms (NCBI Gene) Gene synonyms aliases	GDD1, LGMD2L, LGMDR12, TMEM16E
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p14.3
Summary Summary of gene provided in NCBI Entrez 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

Show/Hide all(96)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34994927	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs119103234	T>C,G	Not-provided, pathogenic	Coding sequence variant, missense variant
rs137854521	->A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs137854523	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137854524	C>G	Pathogenic	Coding sequence variant, missense variant
rs137854526	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs137854527	A>G	Pathogenic	Coding sequence variant, missense variant
rs137854528	CA>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137854529	C>T	Pathogenic	Coding sequence variant, missense variant
rs139618850	G>A	Uncertain-significance, affects	Coding sequence variant, missense variant
rs140903276	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142027093	G>A	Pathogenic	Splice donor variant
rs142073798	T>A,G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs142858990	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143331003	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143777403	A>G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs143977836	TTTT>-,TT	Conflicting-interpretations-of-pathogenicity	Intron variant
rs145127621	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs146341538	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, stop gained, missense variant
rs147121216	G>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148293985	A>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148516756	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs188150039	C>A,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs199501657	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs199888040	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs201725369	C>G,T	Pathogenic, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs202034123	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs281865464	G>A	Pathogenic	Intron variant
rs281865467	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs281865480	->A	Pathogenic	Coding sequence variant, frameshift variant
rs368970223	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs369103376	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372221490	G>A	Pathogenic, likely-pathogenic	Splice donor variant
rs375014127	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs377549896	C>G,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs397514736	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs398124625	G>A	Pathogenic	Splice acceptor variant
rs398124626	->T	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs529961953	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs541372136	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs561719071	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant
rs563666662	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs566415362	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs747719953	C>A,G,T	Pathogenic, likely-pathogenic	Stop gained, synonymous variant, coding sequence variant, missense variant
rs749645231	C>T	Pathogenic	Stop gained, coding sequence variant
rs752982710	G>-	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs753138577	C>G	Pathogenic	Stop gained, coding sequence variant
rs754889480	C>G,T	Pathogenic, likely-benign	Stop gained, synonymous variant, coding sequence variant
rs759064817	->A	Pathogenic	Coding sequence variant, frameshift variant
rs762035813	C>A,T	Pathogenic-likely-pathogenic	Synonymous variant, coding sequence variant, stop gained, 5 prime UTR variant
rs765262083	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs765427574	G>A	Pathogenic	Coding sequence variant, stop gained
rs770694933	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs773736505	A>G	Likely-pathogenic	Splice acceptor variant
rs776474397	A>G	Likely-pathogenic	Splice acceptor variant
rs776859202	AAAGA>-	Pathogenic, not-provided	Frameshift variant, coding sequence variant
rs780109230	G>A	Likely-pathogenic	Splice acceptor variant
rs781027702	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794727158	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727231	TCATAGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794727350	TTC>-	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Inframe deletion, coding sequence variant
rs794727745	CAAAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044667	->A	Pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs868484837	G>-	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs878854367	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886042442	G>A	Pathogenic	Splice donor variant
rs886042556	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886043074	G>T	Pathogenic	Stop gained, coding sequence variant
rs886043172	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043327	TTAACTTAACA>-	Pathogenic-likely-pathogenic	Splice acceptor variant, intron variant
rs886044020	GA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886044915	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518855	->T	Likely-pathogenic	Splice donor variant
rs1064793358	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1168346560	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1302414683	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1323349209	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs1335126943	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1364860348	T>A,C	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1380525804	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs1403946332	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs1458677325	GATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1488095558	C>T	Pathogenic	Stop gained, coding sequence variant
rs1554924356	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554927050	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554929292	T>C	Pathogenic	Coding sequence variant, missense variant
rs1554929301	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs1554930267	C>T	Pathogenic	Coding sequence variant, stop gained
rs1554930314	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554933716	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1564922516	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1564930625	C>T	Pathogenic	Coding sequence variant, stop gained
rs1564936489	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590266227	A>T	Pathogenic	Coding sequence variant, stop gained
rs1590266513	->AGCC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1590300702	T>G	Likely-pathogenic	Splice donor variant

Show/Hide all(44)

miRTarBase ID	miRNA	Experiments	Reference
MIRT441220	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT441220	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT785718	hsa-miR-140-5p	CLIP-seq
MIRT785719	hsa-miR-203	CLIP-seq
MIRT785720	hsa-miR-23a	CLIP-seq
MIRT785721	hsa-miR-23b	CLIP-seq
MIRT785722	hsa-miR-23c	CLIP-seq
MIRT785723	hsa-miR-24	CLIP-seq
MIRT785724	hsa-miR-3158-3p	CLIP-seq
MIRT785725	hsa-miR-3545-5p	CLIP-seq
MIRT785726	hsa-miR-4264	CLIP-seq
MIRT785727	hsa-miR-4437	CLIP-seq
MIRT785728	hsa-miR-4446-3p	CLIP-seq
MIRT785729	hsa-miR-4460	CLIP-seq
MIRT785730	hsa-miR-4704-3p	CLIP-seq
MIRT785731	hsa-miR-4753-3p	CLIP-seq
MIRT785732	hsa-miR-622	CLIP-seq
MIRT785733	hsa-miR-1246	CLIP-seq
MIRT785734	hsa-miR-3616-5p	CLIP-seq
MIRT785735	hsa-miR-3647-5p	CLIP-seq
MIRT785736	hsa-miR-382	CLIP-seq
MIRT785737	hsa-miR-431	CLIP-seq
MIRT785738	hsa-miR-4320	CLIP-seq
MIRT785739	hsa-miR-4511	CLIP-seq
MIRT785740	hsa-miR-4635	CLIP-seq
MIRT785741	hsa-miR-4699-3p	CLIP-seq
MIRT785742	hsa-miR-4768-5p	CLIP-seq
MIRT785743	hsa-miR-548ac	CLIP-seq
MIRT785744	hsa-miR-548ad	CLIP-seq
MIRT785745	hsa-miR-548ae	CLIP-seq
MIRT785746	hsa-miR-548aj	CLIP-seq
MIRT785747	hsa-miR-548am	CLIP-seq
MIRT785748	hsa-miR-548b-3p	CLIP-seq
MIRT785749	hsa-miR-548d-3p	CLIP-seq
MIRT785750	hsa-miR-548x	CLIP-seq
MIRT785751	hsa-miR-548z	CLIP-seq
MIRT785752	hsa-miR-573	CLIP-seq
MIRT1931795	hsa-miR-1305	CLIP-seq
MIRT1931796	hsa-miR-3163	CLIP-seq
MIRT1931795	hsa-miR-1305	CLIP-seq
MIRT2172258	hsa-miR-3920	CLIP-seq
MIRT2172259	hsa-miR-124	CLIP-seq
MIRT2172260	hsa-miR-3180-5p	CLIP-seq
MIRT2172261	hsa-miR-506	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001778	Process	Plasma membrane repair	IMP	33496727
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	22075693
GO:0005229	Function	Intracellularly calcium-gated chloride channel activity	IDA	22946059
GO:0005254	Function	Chloride channel activity	IBA
GO:0005254	Function	Chloride channel activity	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22946059
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0031982	Component	Vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0046983	Function	Protein dimerization activity	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1902476	Process	Chloride transmembrane transport	IDA	22946059

MIM	HGNC	e!Ensembl
608662	27337	ENSG00000171714

Protein

UniProt ID

Q75V66

Protein name

Anoctamin-5 (Gnathodiaphyseal dysplasia 1 protein) (Transmembrane protein 16E)

Protein 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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16178	Anoct_dimer	72 → 289	Dimerisation domain of Ca+-activated chloride-channel, anoctamin	Family
PF04547	Anoctamin	292 → 868	Calcium-activated chloride channel	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells. {ECO:0000269|PubMed:15067359, ECO:0000269|PubMed:1

Sequence

MGDPDLLEVLAEEGEKVNKHIDYSFQMSEQSLSSRETSFLINEETMPAKRFNLFLRRRLM
FQKNQQSKDSIFFRDGIRQIDFVLSYVDDVKKDAELKAERRKEFETNLRKTGLELEIEDK
RDSEDGRTYFVKIHAPWEVLVTYAEVLGIKMPIKESDIPRPKHTPISYVLGPVRLPLSVK
YPHPEYFTAQFSRHRQELFLIEDQATFFPSSSRNRIVYYILSRCPFGIEDGKKRFGIERL
LNSNTYSSAYPLHDGQYWKPSEPPNPTNERYTLHQNWARFSYFYKEQPLDLIKNYYGEKI
GIYFVFLGFYTEMLFFAAVVGLACFIYGLLSMEHNTSSTEICDPEIGGQMIMCPLCDQVC
DYWRLNSTCLASKFSHLFDNESTVFFAIFMGIWVTLFLEFWKQRQARLEYEWDLVDFEEE
QQQLQLRPEFEAMCKHRKLNAVTKEMEPYMPLYTRIPWYFLSGATVTLWMSLVVTSMVAV
IVYRLSVFATFASFMESDASLKQVKSFLTPQITTSLTGSCLNFIVILILNFFYEKISAWI
TKMEIPRTYQEYESSLTLKMFLFQFVNFYSSCFYVAFFKGKFVGYPGKYTYLFNEWRSEE
CDPGGCLIELTTQLTIIMTGKQIFGNIKEAIYPLALNWWRRRKARTNSEKLYSRWEQDHD
LESFGPLGLFYEYLETVTQFGFVTLFVASFPLAPLLALINNIVEIRVDAWKLTTQYRRTV
ASKAHSIGVWQDILYGMAVLSVATNAFIVAFTSDIIPRLVYYYAYSTNATQPMTGYVNNS
LSVFLIADFPNHTAPSEKRDFITCRYRDYRYPPDDENKYFHNMQFWHVLAAKMTFIIVME
HVVFLVKFLLAWMIPDVPKDVVERIKREKLMTIKILHDFELNKLKENLGINSNEFAKHVM
IEENKAQLAKSTL

Sequence length

913

Interactions

View interactions

	KEGG		Reactome
	Efferocytosis		Stimuli-sensing channels

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Gnathodiaphyseal Dysplasia	gnathodiaphyseal dysplasia	rs1554929292, rs1335126943, rs1590266513, rs119103234, rs397514736, rs1057518855	N/A
Limb-girdle muscular dystrophy	Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy	rs754889480, rs137854526, rs878854367, rs1403946332, rs137854527, rs142073798, rs1380525804, rs137854523, rs794727158, rs1168346560, rs1590300702, rs188150039, rs137854529, rs1233836740, rs797044667 View all (20 more)	N/A
Miyoshi Muscular Dystrophy	miyoshi muscular dystrophy 3	rs137854521, rs886043172, rs137854529, rs281865464, rs281865480, rs201725369	N/A
Muscular dystrophy	muscular dystrophy	rs368970223	N/A
Myopathy	myopathy	rs137854521, rs1057518855	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Atelosteogenesis type 2	Associate	28176803
Bone Diseases	Associate	27216912, 29175271
Bone Diseases Metabolic	Associate	29175271
Breech Presentation	Associate	25891276
Bundle Branch Block	Associate	33567613
Cardiomyopathy Hypertrophic	Associate	37510237
Cardiomyopathy Right Ventricular Dilated	Associate	33567613
Distal Myopathies	Associate	20692837, 37510237
Dysferlinopathy	Associate	21186264
Femoral Fractures	Associate	29175271
Femoral Fractures Distal	Associate	27541832
Fractures Bone	Associate	28176803, 29175271
Gigantiform Cementoma Familial	Associate	27216912
Glycogen Storage Disease Type II	Associate	31931849
Heart Diseases	Associate	26913919
Heart Failure	Associate	37510237
Hyperplasia	Associate	30235762
Jaw Fractures	Associate	27541832
Job Syndrome	Associate	24843231
Limb girdle muscular dystrophy type 2A	Associate	27911336
Limb girdle muscular dystrophy type 2B	Associate	20096397
Lymphedema Congenital Recessive	Associate	31931849
Miyoshi Muscular Dystrophy 3	Associate	20096397, 32925086
Miyoshi myopathy	Associate	20096397, 21186264, 24843231, 36352632, 37510237
Muscle Neoplasms	Associate	31395899
Muscle Weakness	Associate	20692837, 21186264, 31353849, 31395899, 32925086, 36352632
Muscular Diseases	Associate	24843231, 25891276, 31353849, 32925086, 35239206
Muscular Dystrophies	Associate	20096397, 20692837, 21186264, 23047743, 24843231, 27216912, 27911336, 36352632, 39457424
Muscular Dystrophies Limb Girdle	Associate	20096397, 21186264, 24843231, 25891276, 31353849, 31395899, 32925086, 35239206, 35563815, 36352632, 37688281
Muscular Dystrophy Limb Girdle Type 2L	Associate	20096397, 21186264, 22742934, 23169617, 24843231, 25864073, 30235762, 31395899
Myalgia	Associate	36352632
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	20096397
Neoplasm Metastasis	Associate	30429477
Neoplasms	Associate	27216912, 36157935
Neuromuscular Diseases	Associate	33567613
Odontoma	Associate	32925086
Osteogenesis imperfecta Levin type	Associate	23047743, 27068316, 27216912, 27541832, 28176803, 29175271, 30554457, 35758145
Osteomyelitis	Associate	28176803
Osteosclerosis	Associate	27541832
Post Acute COVID 19 Syndrome	Associate	37510237
Prostatic Neoplasms	Associate	32027096
Retinal Dysplasia	Associate	20096397
Rhabdomyolysis	Associate	25864073, 32978841
Schmid Fraccaro syndrome	Associate	26913919
Sclerosis	Associate	37510237
Stomach Neoplasms	Associate	36157935
Wasting Syndrome	Associate	20692837

ANO5 (anoctamin 5)