C3orf52 (chromosome 3 open reading frame 52)

2014-11-01  

Identity

HGNC
C3orf52
LOCATION
3q13.2
LOCUSID
79669
ALIAS
TTMP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79669
MIM: 611956
HGNC: 26255
Ensembl: ENSG00000114529

Variants:

dbSNP: 79669
ClinVar: 79669
TCGA: ENSG00000114529
COSMIC: C3orf52

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114529ENST00000264848Q5BVD1
ENSG00000114529ENST00000431717Q5BVD1
ENSG00000114529ENST00000480282Q5BVD1
ENSG00000114529ENST00000484828H7C5J7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
343095262021A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family.1
343095262021A novel homozygous frameshift variant in the C3orf52 gene underlying isolated hair loss in a consanguineous family.1
323367492020Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.2
323367492020Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.2

Citation

Dessen P

C3orf52 (chromosome 3 open reading frame 52)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61184