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
376493082024Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.2
376493082024Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.2
369132582023Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.0
369132582023Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.0
361579352022Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer.2
361579352022Anoctamin 5 regulates the cell cycle and affects prognosis in gastric cancer.2
329020092021ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.2
334967272021ANO5 ensures trafficking of annexins in wounded myofibers.24
338187612021Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.0
341456872021Muscle involvement assessed by quantitative magnetic resonance imaging in patients with anoctamin 5 deficiency.5
342387632021Anoctamin 5 promotes osteosarcoma development by increasing degradation of Nel-like proteins 1 and 2.4
345506152021Muscle biopsy and MRI findings in ANO5-related myopathy.3
329020092021ANO5-associated Gnathodiaphyseal dysplasia with calvarial doughnut lesions: First report in an Asian Indian with an expanded phenotype.2
334967272021ANO5 ensures trafficking of annexins in wounded myofibers.24
338187612021Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.0

Citation

Dessen P

ANO5 (anoctamin 5)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

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