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: 4
Recent Reports: 0
Annotated variants: 6
Associated CNVs: 8
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 6
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
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
