CCDC141 (coiled-coil domain containing 141)

2014-11-01  

Identity

HGNC
CCDC141
LOCATION
2q31.2
LOCUSID
285025
ALIAS
CAMDI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 285025
MIM: 616031
HGNC: 26821
Ensembl: ENSG00000163492

Variants:

dbSNP: 285025
ClinVar: 285025
TCGA: ENSG00000163492
COSMIC: CCDC141

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163492ENST00000343876A0A0A6YYF7
ENSG00000163492ENST00000409284B8ZZB3
ENSG00000163492ENST00000443758Q6ZP82
ENSG00000163492ENST00000446116C9JR62

Expression (GTEx)

0
1
2
3
4
5
6
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
325207252020Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.4
325207252020Genotypic and phenotypic spectrum of CCDC141 variants in a Chinese cohort with congenital hypogonadotropic hypogonadism.4
283240542017CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.16
283240542017CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.16
270149402016CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration.21
270149402016CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration.21
209565362010CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.29
209565362010CAMDI, a novel disrupted in schizophrenia 1 (DISC1)-binding protein, is required for radial migration.29
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.32
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.32

Citation

Dessen P

CCDC141 (coiled-coil domain containing 141)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61487