RLIM
Homo sapiens
Gene Name: Ring finger protein, LIM domain interacting
Aliases: NY-REN-43, RNF12
Chromosome No: X
Chromosome Band: Xq13.2
Genetic Category: Rare single gene variant-Syndromic-
Aliases: NY-REN-43, RNF12
Chromosome No: X
Chromosome Band: Xq13.2
Genetic Category: Rare single gene variant-Syndromic-
Summary Statistics:
ASD Reports: 6
Recent Reports: 4
Annotated variants: 19
Associated CNVs: 12
Evidence score: 2
ASD Reports: 6
Recent Reports: 4
Annotated variants: 19
Associated CNVs: 12
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
A rare missense variant in the RLIM gene (c.1067A>G; p.Tyr356Cys) segregated with disease in a three-generation Norwegian family with a novel X-linked intellectual disability syndrome characterized by autism, subtle facial dysmorphism, and severe feeding problems (Tonne et al., 2015).
Molecular Function
The protein encoded by this gene is a E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM) for proteasome-dependent degradation1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. By targeting ZFP42 for degradation, RLIM acts as an activator of random inactivation of X chromosome in the embryo.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Syndromic X-linked intellectual disability segregating with a missense variant in RLIM.
ASD, ID
Recent Recommendation
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Recent Recommendation
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
ID
Recent Recommendation
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
ID
ASD/autistic features
Recent Recommendation
RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN708R001
missense_variant
c.1067A>G
p.Tyr356Cys
Familial
Maternal
Multi-generational
GEN708R002
missense_variant
c.1760C>G
p.Pro587Arg
Familial
Maternal
Multi-generational
GEN708R003
missense_variant
c.1159C>T
p.Arg387Cys
Familial
Maternal
Multi-generational
GEN708R004
missense_variant
c.1795C>T
p.Arg599Cys
Familial
Maternal
Multi-generational
GEN708R006
missense_variant
c.1093C>T
p.Arg365Cys
Familial
Maternal
Multiplex
GEN708R007
missense_variant
c.1729T>C
p.Tyr577His
Familial
Maternal
Multi-generational
GEN708R008
missense_variant
c.1792G>A
p.Asp598Asn
Familial
Maternal
Multi-generational
GEN708R009
missense_variant
c.1831C>T
p.Arg611Cys
Familial
Maternal
Extended multiplex
Common
No Common Variants Available
