ANO5 (anoctamin 5)

2017-10-01  

Identity

HGNC
ANO5
LOCATION
11p14.3
LOCUSID
203859
ALIAS
GDD1,LGMD2L,LGMDR12,TMEM16E
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 203859
MIM: 608662
HGNC: 27337
Ensembl: ENSG00000171714

Variants:

dbSNP: 203859
ClinVar: 203859
TCGA: ENSG00000171714
COSMIC: ANO5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171714ENST00000324559Q75V66

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
200963972010Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.65
211862642011A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.46
224028622012Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.21
269116752016Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.21
206928372010A new distal myopathy with mutation in anoctamin 5.17
227429342012Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.17
230477432013A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.15
258912762015Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.15
236064532013ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.14
238431872014TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability.14

Citation

Dessen P

ANO5 (anoctamin 5)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57142/ano5