C12orf4 (chromosome 12 open reading frame 4)

2014-08-01  

Identity

HGNC
C12orf4
LOCATION
12p13.32
LOCUSID
57102
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57102
MIM: 616082
HGNC: 1184
Ensembl: ENSG00000047621

Variants:

dbSNP: 57102
ClinVar: 57102
TCGA: ENSG00000047621
COSMIC: C12orf4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000047621ENST00000261250Q9NQ89
ENSG00000047621ENST00000541014F5GXX6
ENSG00000047621ENST00000542080F5H744
ENSG00000047621ENST00000544258H0YGS6
ENSG00000047621ENST00000544697F5H271
ENSG00000047621ENST00000545746Q9NQ89

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
349670752022A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.0
349670752022A novel variant of C12orf4 linked to autosomal recessive intellectual disability type 66 with phenotype expansion.0
273115682017Identification of C12orf4 as a gene for autosomal recessive intellectual disability.7
273115682017Identification of C12orf4 as a gene for autosomal recessive intellectual disability.7
251222112014In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation.8
251222112014In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation.8

Citation

Dessen P

C12orf4 (chromosome 12 open reading frame 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54163/js/js/gene-fusions-explorer/