ARMC12 (armadillo repeat containing 12)

2019-04-01  

Identity

HGNC
ARMC12
LOCATION
6p21.31
LOCUSID
221481
ALIAS
C6orf81

Other Information

Locus ID:

NCBI: 221481
HGNC: 21099
Ensembl: ENSG00000157343

Variants:

dbSNP: 221481
ClinVar: 221481
TCGA: ENSG00000157343
COSMIC: ARMC12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157343ENST00000288065Q5T9G4
ENSG00000157343ENST00000373866Q5T9G4
ENSG00000157343ENST00000373869Q5T9G4
ENSG00000157343ENST00000471400F8WC51

Expression (GTEx)

0
50
100
150
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

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
355342032023Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice.1
355342032023Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice.1
335363402021ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility.31
335363402021ARMC12 regulates spatiotemporal mitochondrial dynamics during spermiogenesis and is required for male fertility.31
300264902018Armadillo repeat containing 12 promotes neuroblastoma progression through interaction with retinoblastoma binding protein 4.27
300264902018Armadillo repeat containing 12 promotes neuroblastoma progression through interaction with retinoblastoma binding protein 4.27

Citation

Dessen P

ARMC12 (armadillo repeat containing 12)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57872/css/lib/js/lib/favicon/manifest.json