Gene: TMX2-CTNND1

Alternate names for this Gene: CAS|CTNND1|p120(cas)|p120(ctn)

Gene Summary: This locus represents naturally occurring read-through transcription between the neighboring TMX2 (thioredoxin-related transmembrane protein 2) and CTNND1 (catenin, cadherin-associated protein, delta 1) genes on chromosome 11. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is therefore unlikely to produce a protein product.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.1

Description of this Gene: TMX2-CTNND1 readthrough (NMD candidate)

Type of Gene: ncRNA

Gene: TMX2

Alternate names for this Gene: CGI-31|NEDMCMS|PDIA12|PIG26|TXNDC14

Gene Summary: This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines.

Gene is located in Chromosome: 11

Location in Chromosome : 11q12.1

Description of this Gene: thioredoxin related transmembrane protein 2

Type of Gene: protein-coding

rs7129727 in TMX2-CTNND1;TMX2 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs7129727 in TMX2-CTNND1;TMX2 gene and Schizophrenia PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

rs12790196 in TMX2-CTNND1;TMX2 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.