• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CNTN2 (HGNC:2172) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
contactin 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TAX, AXT
Alias symbols
TAG-1, TAX1
%HI
20.14(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.44(Read more about gnomAD LOEUF score)
Cytoband
1q32.1
Genomic Coordinates
GRCh37/hg19: chr1:205012077-205047417 NCBI Ensembl UCSC
GRCh38/hg38: chr1:205042949-205078289 NCBI Ensembl UCSC
MANE Select Transcript
NM_005076.5 ENST00000331830.7 (Read more about MANE Select)
Function
In conjunction with another transmembrane protein, CNTNAP2, contributes to the organization of axonal domains at nodes of Ranvier by maintaining voltage-gated potassium channels at the juxtaparanodal region. May be involved in cell adhesion. {ECO:0000269|PubMed:23518707}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2999
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • epilepsy, familial adult myoclonic, 5 Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)