CCDC148 (coiled-coil domain containing 148)

2014-11-01  

Identity

HGNC
CCDC148
LOCATION
2q24.1
LOCUSID
130940
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 130940
HGNC: 25191
Ensembl: ENSG00000153237

Variants:

dbSNP: 130940
ClinVar: 130940
TCGA: ENSG00000153237
COSMIC: CCDC148

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000153237ENST00000283233Q8NFR7
ENSG00000153237ENST00000409187B8ZZV3
ENSG00000153237ENST00000409889Q8NFR7
ENSG00000153237ENST00000417066F8WC92
ENSG00000153237ENST00000448656F8WCV9
ENSG00000153237ENST00000451554F8WCW7
ENSG00000153237ENST00000454257F8WBK8

Expression (GTEx)

0
1
2
3
4
5
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
N/A

References

Pubmed IDYearTitleCitations
383591662024Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms.0
383591662024Attempted replication of pharmacogenetic association of variants in PPP1R14C and CCDC148 with aromatase inhibitor-induced musculoskeletal symptoms.0
212970762011Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.25
212970762011Haplotype association mapping of acute lung injury in mice implicates activin a receptor, type 1.25
194016822010High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.71
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
194016822010High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.71
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

CCDC148 (coiled-coil domain containing 148)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61496/ccdc148-(coiled-coil-domain-containing-148)