CNTN4 (contactin 4)

2009-11-01 Affiliation

Identity

HGNC

CNTN4

LOCATION

3p26.2

LOCUSID

152330

ALIAS

AXCAM,BIG-2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 152330
MIM: 607280
HGNC: 2174
Ensembl: ENSG00000144619

Variants:

dbSNP: 152330
ClinVar: 152330
TCGA: ENSG00000144619
COSMIC: CNTN4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000144619	ENST00000397459	Q8IWV2
ENSG00000144619	ENST00000397461	Q8IWV2
ENSG00000144619	ENST00000397461	A0A024R2E5
ENSG00000144619	ENST00000418658	Q8IWV2
ENSG00000144619	ENST00000418658	A0A024R2E5
ENSG00000144619	ENST00000422330	C9JMQ2
ENSG00000144619	ENST00000427331	Q8IWV2
ENSG00000144619	ENST00000427331	A0A024R2E5
ENSG00000144619	ENST00000427741	F8WD58
ENSG00000144619	ENST00000434053	C9JIY1
ENSG00000144619	ENST00000455083	C9JGK9
ENSG00000144619	ENST00000473845	H0Y8U1

Expression (GTEx)

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

Pathways

Pathway	Source	External ID
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteins	REACTOME	R-HSA-163125

References

Pubmed ID	Year	Title	Citations
19736351	2009	Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.	151
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
21079607	2011	A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa.	67
18349135	2009	Disruption of contactin 4 in three subjects with autism spectrum disorder.	62
15106122	2004	Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome.	49
20201926	2010	Human variation in alcohol response is influenced by variation in neuronal signaling genes.	45
25959733	2015	Contactin-4 mediates axon-target specificity and functional development of the accessory optic system.	38
21308999	2011	Contactin 4 as an autism susceptibility locus.	24
19509545	2009	Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer.	11
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11

Citation

Dessen P

CNTN4 (contactin 4)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51225/cntn4