HEPACAM
Homo sapiens
Gene Name: hepatic and glial cell adhesion molecule
Aliases: GlialCAM, MLC2A, MLC2B
Chromosome No: 11
Chromosome Band: 11q24.2
Genetic Category: Syndromic-Rare single gene variant-Functional
Aliases: GlialCAM, MLC2A, MLC2B
Chromosome No: 11
Chromosome Band: 11q24.2
Genetic Category: Syndromic-Rare single gene variant-Functional
Summary Statistics:
ASD Reports: 11
Recent Reports: 3
Annotated variants: 33
Associated CNVs: 7
Evidence score: 2
ASD Reports: 11
Recent Reports: 3
Annotated variants: 33
Associated CNVs: 7
Evidence score: 2
Gene Score: S
Associated Disorders: |
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Relevance to Autism
This gene has been associated with syndromic autism, where a subpopulation of individuals with a given syndrome develop autism. In particular, rare mutations in the HEPACAM gene have been found to cause either macrocephaly and mental retardation with or without autism or benign familial macrocephaly (Lpez-Hernndez et al., 2011).
Molecular Function
Involved in regulating cell motility and cell-matrix interactions. May inhibit cell growth through suppression of cell proliferation
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation ...
Megalencephalic leukoencephalopathy with subcortic
ASD, ID
Support
Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders.
ASD
Support
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability
ID
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
ASD
Highly Cited
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
Highly Cited
HepaCAM induces G1 phase arrest and promotes c-Myc degradation in human renal cell carcinoma.
Recent Recommendation
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Remitting megalencephalic leukoencephalopathy with
Recent Recommendation
Structural and functional analyses of a novel ig-like cell adhesion molecule, hepaCAM, in the human breast carcinoma MCF7 cells.
Recent Recommendation
Cloning and characterization of hepaCAM, a novel Ig-like cell adhesion molecule suppressed in human hepatocellular carcinoma.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN118R001b
stop_gained
c.789G>A
p.Trp263Ter
Familial
Maternal
Multiplex
GEN118R002a
frameshift_variant
NM_152722.5:c.580delC,582C>T
p.Leu194PhefsTer60
Familial
Both parents
Simplex
GEN118R003a
missense_variant
c.442C>T
p.Pro148Ser
Familial
Both parents
Simplex
GEN118R004a
missense_variant
c.275G>A
p.Arg92Gln
Familial
Paternal
Simplex
GEN118R004b
missense_variant
c.631G>A
p.Asp211Asn
Familial
Maternal
Simplex
GEN118R006b
frameshift_variant
c.461_462del
p.Ser154TyrfsTer17
Familial
Paternal
Simplex
GEN118R006c
stop_gained
c.742G>T
p.Gly248Ter
Familial
Paternal
Simplex
GEN118R007a
missense_variant
c.442C>T
p.Pro148Ser
Familial
Both parents
Simplex
GEN118R008a
missense_variant
c.292C>T
p.Arg98Cys
Familial
Both parents
Multiplex
GEN118R010
missense_variant
c.382G>A
p.Asp128Asn
Familial
Paternal
Simplex
GEN118R011
missense_variant
c.265G>A
p.Gly89Ser
Familial
Paternal
Simplex
GEN118R012
missense_variant
c.274C>T
p.Arg92Trp
Familial
Maternal
Simplex
GEN118R013
missense_variant
c.274C>T
p.Arg92Trp
Familial
Maternal
Multiplex
GEN118R014
missense_variant
c.265G>A
p.Gly89Ser
Familial
Paternal
Multiplex
GEN118R015
missense_variant
c.266G>A
p.Gly89Asp
Familial
Paternal
Simplex
GEN118R018
missense_variant
c.274C>T
p.Arg92Trp
Familial
Maternal
Simplex
GEN118R019a
missense_variant
c.382G>A
p.Asp128Asn
Familial
Paternal
Simplex
GEN118R019b
missense_variant
c.862C>T
p.Arg288Cys
Familial
Paternal
Simplex
GEN118R020
inframe_deletion
c.404_406del
p.Lys135del
Familial
Paternal
Simplex
GEN118R021
missense_variant
c.265G>A
p.Gly89Ser
Familial
Maternal
Simplex
GEN118R023
missense_variant
c.265G>A
p.Gly89Ser
Familial
Maternal
Simplex
Common
No Common Variants Available