COLCA2 (colorectal cancer associated 2)

2013-09-01  

Identity

HGNC
COLCA2
LOCATION
11q23.1
LOCUSID
120376
ALIAS
C11orf93,CASC13,LOH11CR1G
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 120376
MIM: 615694
HGNC: 26978
Ensembl: ENSG00000214290

Variants:

dbSNP: 120376
ClinVar: 120376
TCGA: ENSG00000214290
COSMIC: COLCA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000214290ENST00000398035A8K830
ENSG00000214290ENST00000526216A8K830
ENSG00000214290ENST00000528846A0A0A0MTE5
ENSG00000214290ENST00000610738A8K830
ENSG00000214290ENST00000614153A8K830
ENSG00000214290ENST00000638573A8K830
ENSG00000214290ENST00000639470A0A1W2PQW7

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

References

Pubmed IDYearTitleCitations
355769712022OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage.23
362533502022Selective regulation of tuft cell-like small cell lung cancer by novel transcriptional co-activators C11orf53 and COLCA2.7
355769712022OCA-T1 and OCA-T2 are coactivators of POU2F3 in the tuft cell lineage.23
362533502022Selective regulation of tuft cell-like small cell lung cancer by novel transcriptional co-activators C11orf53 and COLCA2.7
336332252021rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.4
336332252021rs1944919 on chromosome 11q23.1 and its effector genes COLCA1/COLCA2 confer susceptibility to primary biliary cholangitis.4
241462762014Genetic association of PLCE1, C11orf92-C11orf93, and NOC3L with colorectal cancer risk in the Han population.11
241549732014Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variants.27
241462762014Genetic association of PLCE1, C11orf92-C11orf93, and NOC3L with colorectal cancer risk in the Han population.11
241549732014Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variants.27
210715392011Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.44
210715392011Generalizability and epidemiologic characterization of eleven colorectal cancer GWAS hits in multiple populations.44
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
187531462008Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer.32

Citation

Dessen P

COLCA2 (colorectal cancer associated 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-09-01

Online version: http://atlasgeneticsoncology.org/gene/53526/teaching-explorer/