C12orf43 (chromosome 12 open reading frame 43)

2014-11-01  

Identity

HGNC
C12orf43
LOCATION
12q24.31
LOCUSID
64897
ALIAS
Custos

Other Information

Locus ID:

NCBI: 64897
HGNC: 25719
Ensembl: ENSG00000157895

Variants:

dbSNP: 64897
ClinVar: 64897
TCGA: ENSG00000157895
COSMIC: C12orf43

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157895ENST00000288757Q96C57
ENSG00000157895ENST00000445832E7ENF1
ENSG00000157895ENST00000535367F5H3K2
ENSG00000157895ENST00000537817F5H7W8
ENSG00000157895ENST00000538296F5H8B7
ENSG00000157895ENST00000539736G5EA44
ENSG00000157895ENST00000546272H0YGK4

Expression (GTEx)

0
5
10
15
20
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
384300452024Association of a single-nucleotide polymorphism in C12orf43 region with the risk of coronary artery disease.0
384300452024Association of a single-nucleotide polymorphism in C12orf43 region with the risk of coronary artery disease.0
272631092016A Single-Nucleotide Polymorphism in C12orf43 Region is Associated with the Risk of Coronary Artery Disease in a Pakistani Cohort.2
272631092016A Single-Nucleotide Polymorphism in C12orf43 Region is Associated with the Risk of Coronary Artery Disease in a Pakistani Cohort.2
191986122009New susceptibility locus for coronary artery disease on chromosome 3q22.3.192
191986122009New susceptibility locus for coronary artery disease on chromosome 3q22.3.192

Citation

Dessen P

C12orf43 (chromosome 12 open reading frame 43)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60911