TMEM132D
Homo sapiens
Gene Name: transmembrane protein 132D
Aliases: MOLT, PPP1R153
Chromosome No: 12
Chromosome Band: 12q24.33
Genetic Category: Genetic association/Functional-Genetic association-Rare single gene variant
Aliases: MOLT, PPP1R153
Chromosome No: 12
Chromosome Band: 12q24.33
Genetic Category: Genetic association/Functional-Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 8
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
TMEM132D was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to four ASD probands in three independent families. TMEM132D has previously been identified as a candidate gene for panic disorder (Erhardt et al., 2011; Erhardt et al., 2012).
Molecular Function
May serve as a cell-surface marker for oligodendrocyte differentiation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recent ultra-rare inherited variants implicate new autism candidate risk genes
ASD
Support
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
ASD
Support
Replication and meta-analysis of TMEM132D gene variants in panic disorder
Panic disorder
Support
TMEM132D, a new candidate for anxiety phenotypes: evidence from human and mouse studies
Panic disorder
