IMMP2L
Homo sapiens
Gene Name: IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Aliases: IMP2
Chromosome No: 7
Chromosome Band: 7q31.1
Genetic Category: Rare single gene variant--Genetic association/multigenic CNV-Multigenic CNV-Genetic association-Functional
Aliases: IMP2
Chromosome No: 7
Chromosome Band: 7q31.1
Genetic Category: Rare single gene variant--Genetic association/multigenic CNV-Multigenic CNV-Genetic association-Functional
Summary Statistics:
ASD Reports: 17
Recent Reports: 2
Annotated variants: 31
Associated CNVs: 6
Evidence score: 2
ASD Reports: 17
Recent Reports: 2
Annotated variants: 31
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutation in the IMMP2L gene has been identified with Tourette syndrome (possible syndromic overlap with autism) (Petek et al., 2001). However, a separate study found no coding mutations in IMMP2L in either Tourette syndrome or ASD patients screened (Petek et al., 2007).
Molecular Function
The encoded protein has serine-like peptidase activity.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
TS
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Positive Association
High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism ...
ASD
Negative Association
Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population.
ASD
Negative Association
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
ASD, TS
Support
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Epilepsy
ASD, DD, ID
Support
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
ASD
Support
Exonic deletions in IMMP2L in schizophrenia with enhanced glycation stress subtype
SCZ
ASD or autistic features
Support
Translocation breakpoint at 7q31 associated with tics: further evidence for IMMP2L as a candidate gene for Tourette syndrome.
TS
Support
First behavioural assessment of a novel Immp2l knockdown mouse model with relevance for Gilles de la Tourette syndrome and Autism spectrum disorder.
ASD, TS
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Support
Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.
ASD
ID
Recent Recommendation
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria.
Recent Recommendation
Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.
TS
ADHD, OCD, ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN134C001
intron_variant
rs1464895
c.409-20964G>A;c.286-20964G>A;c.306-20964G>A
Discovery cohort: 127 ASD families from IMGSAC showing linkage to the AUTS1 region, 188 gender-matched controls
Discovery
GEN134C002
intron_variant
rs2030781
c.409-58981G>A;c.286-58981G>A;c.306-58981G>A
Risk allele, C
Combined sample of IMGSAC primary and replication samples (420-421 cases, 368 controls)
Discovery
GEN134C003
intron_variant
rs12537269
c.409-93770C>T;c.286-93770C>T;c.306-93770C>T
Risk allele, A
Combined sample of IMGSAC primary and replication samples (420-421 cases, 368 controls)
Discovery
GEN134C004
intron_variant
rs10500002
c.408+84794C>T;c.285+84794C>T;c.306-138078C>T
Discovery cohort: 127 ASD families from IMGSAC showing linkage to the AUTS1 region, 188 gender-matched controls
Discovery
GEN134C005
intron_variant
rs1528039
c.408+83877T>C;c.285+83877T>C;c.306-138995T>C
Discovery cohort: 127 ASD families from IMGSAC showing linkage to the AUTS1 region, 188 gender-matched controls
Discovery
GEN134C006
intron_variant
rs12531640
c.408+47114C>A;c.285+47114C>A;c.305+124021C>A;c.409-3986C>A
Risk allele, T
Discovery cohort: 127 ASD families from IMGSAC showing linkage to the AUTS1 region, 188 gender-matched controls
Discovery
GEN134C007
intron_variant
rs12705761
c.239+151030C>G;c.116+151030C>G;c.323+81051C>G
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
GEN134C008
intergenic_variant
rs211829
T>C
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
