ARMC2 (armadillo repeat containing 2)

2014-11-01  

Identity

HGNC
ARMC2
LOCATION
6q21
LOCUSID
84071
ALIAS
SPGF38,bA787I22.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84071
MIM: 618424
HGNC: 23045
Ensembl: ENSG00000118690

Variants:

dbSNP: 84071
ClinVar: 84071
TCGA: ENSG00000118690
COSMIC: ARMC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118690ENST00000237512A0A0A0MQT2
ENSG00000118690ENST00000368972Q8NEN0
ENSG00000118690ENST00000392644Q8NEN0
ENSG00000118690ENST00000414610H0Y4P5

Expression (GTEx)

0
5
10
15
20
25
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
344934642021A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.4
344934642021A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella.4
306865082019Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.54
306865082019Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.54
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.36
189786782008Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.36

Citation

Dessen P

ARMC2 (armadillo repeat containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60509/armc2-(armadillo-repeat-containing-2)