CNTNAP4 (contactin associated protein family member 4)

2014-11-01  

Identity

HGNC
CNTNAP4
LOCATION
16q23.1
LOCUSID
85445
ALIAS
CASPR4

Other Information

Locus ID:

NCBI: 85445
MIM: 610518
HGNC: 18747
Ensembl: ENSG00000152910

Variants:

dbSNP: 85445
ClinVar: 85445
TCGA: ENSG00000152910
COSMIC: CNTNAP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152910ENST00000307431A0A0A0MR20
ENSG00000152910ENST00000377504F5H107
ENSG00000152910ENST00000476707E9PDN6
ENSG00000152910ENST00000478060Q9C0A0
ENSG00000152910ENST00000611870Q9C0A0
ENSG00000152910ENST00000622250A0A087WTA1

Expression (GTEx)

0
50
100
150
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
384795562024Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study.0
384795562024Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study.0
321948512020CNTNAP4 deficiency in dopaminergic neurons initiates parkinsonian phenotypes.15
321948512020CNTNAP4 deficiency in dopaminergic neurons initiates parkinsonian phenotypes.15
289688992018CNTNAP4 Impacts Epilepsy Through GABAA Receptors Regulation: Evidence From Temporal Lobe Epilepsy Patients and Mouse Models.14
289688992018CNTNAP4 Impacts Epilepsy Through GABAA Receptors Regulation: Evidence From Temporal Lobe Epilepsy Patients and Mouse Models.14
242231952013A common copy number variation (CNV) polymorphism in the CNTNAP4 gene: association with aging in females.9
242231952013A common copy number variation (CNV) polymorphism in the CNTNAP4 gene: association with aging in females.9
226614862012Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.28
226614862012Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.28
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.10
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
198442552010Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.10
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
183988212008Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients.55

Citation

Dessen P

CNTNAP4 (contactin associated protein family member 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61967/case-report-explorer/humanGenome