HELP     Sign In
Search

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

External Links

        

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 resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
ASD
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
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
 GEN118R001 
 missense_variant;stop_gained 
 c.[587C>A];[789G>A] 
 p.[Ser196Tyr];[Trp263Ter] 
 Familial 
 Paternal;Maternal 
 Multiplex 
 GEN118R002 
 frameshift_variant;frameshift_variant 
 c.[580delC, 582C>T];[580delC, 582C>T] 
 p.[Leu194PhefsTer60];[Leu194PhefsTer60] 
 Familial 
 Both parents 
 Simplex 
 GEN118R003 
 missense_variant;missense_variant 
 c.[442C>T];[442C>T] 
 p.[Pro148Ser];[Pro148Ser] 
 Familial 
 Both parents 
 Simplex 
 GEN118R004 
 missense_variant;missense_variant 
 c.[275G>A];[631G>A] 
 p.[Arg92Gln];[Asp211Asn] 
 Familial 
 Paternal;Maternal 
 Simplex 
 GEN118R005 
 missense_variant;missense_variant 
 c.[292C>T];[292C>T] 
 p.[Arg98Cys];[Arg98Cys] 
 Unknown 
  
 Simplex 
 GEN118R006 
 missense_variant 
 c.68T>A 
 p.Leu23His 
 De novo 
  
 Multi-generational 
 GEN118R007 
 frameshift_variant;stop_gained 
 c.[461_462del; c.742G>T] 
 p.[Ser154TyrfsTer16; Gly248Ter] 
 Familial 
 Paternal 
 Multi-generational 
 GEN118R008 
 missense_variant;missense_variant 
 c.[442C>T];[442C>T] 
 p.[Pro148Ser];[Pro148Ser] 
 Familial 
 Both parents 
 Simplex 
 GEN118R009 
 missense_variant;missense_variant 
 c.[292C>T];[292C>T] 
 p.[Arg98Cys];[Arg98Cys] 
 Familial 
 Both parents 
 Multiplex 
 GEN118R010 
 missense_variant 
 c.265G>A 
 p.Gly89Ser 
 De novo 
  
 Simplex 
 GEN118R011 
 missense_variant 
 c.382G>A 
 p.Asp128Asn 
 Familial 
 Paternal 
 Multi-generational 
 GEN118R012 
 missense_variant 
 c.265G>A 
 p.Gly89Ser 
 Familial 
 Paternal 
 Multi-generational 
 GEN118R013 
 missense_variant 
 c.274C>T 
 p.Arg92Trp 
 Familial 
 Maternal 
 Multi-generational 
 GEN118R014 
 missense_variant 
 c.274C>T 
 p.Arg92Trp 
 Familial 
 Maternal 
 Multi-generational 
 GEN118R015 
 missense_variant 
 c.265G>A 
 p.Gly89Ser 
 Familial 
 Paternal 
 Multi-generational 
 GEN118R016 
 missense_variant 
 c.266G>A 
 p.Gly89Asp 
 Familial 
 Paternal 
 Multi-generational 
 GEN118R017 
 missense_variant 
 c.274C>T 
 p.Arg92Trp 
 Unknown 
  
 Simplex 
 GEN118R018 
 missense_variant 
 c.382G>A 
 p.Asp128Asn 
 Unknown 
  
 Simplex 
 GEN118R019 
 missense_variant 
 c.274C>T 
 p.Arg92Trp 
 Familial 
 Maternal 
 Simplex 
 GEN118R020 
 missense_variant 
 c.[382G>A; c.862C>T] 
 p.[Asp128Asn; Arg288Cys] 
 Familial 
 Paternal 
 Simplex 
 GEN118R021 
 inframe_deletion 
 c.404_406del 
 p.Lys135del 
 Familial 
 Paternal 
 Multi-generational 
 GEN118R022 
 missense_variant 
 c.265G>A 
 p.Gly89Ser 
 Familial 
 Maternal 
 Multi-generational 
 GEN118R023 
 missense_variant 
 c.265G>A 
 p.Gly89Ser 
 De novo 
  
 Simplex 
 GEN118R024 
 missense_variant 
 c.265G>A 
 p.Gly89Ser 
 Familial 
 Maternal 
 Multi-generational 
 GEN118R025 
 missense_variant 
 c.274C>T 
 p.Arg92Trp 
 De novo 
  
 Simplex 
 GEN118R026 
 missense_variant 
 c.274C>T 
 p.Arg92Trp 
 De novo 
  
 Simplex 
 GEN118R027 
 missense_variant 
 c.505T>C 
 p.Ser169Pro 
 De novo 
  
  
 GEN118R028 
 missense_variant 
 c.437C>T 
 p.Ser146Leu 
 Familial 
  
 Simplex 
 GEN118R029 
 splice_site_variant 
 c.803+1G>A 
 p.? 
 Familial 
 Paternal 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion
 5
 
11
Duplication
 1
 
11
Deletion-Duplication
 4
 
11
Deletion-Duplication
 13
 
11
Deletion
 6
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
C1ORF87 chromosome 1 open reading frame 87 127795 Q8N0U7 IP; LC-MS/MS
Huttlin EL , et al. 2015
CAV1 caveolin 1, caveolae protein, 22kDa 857 Q03135 IP/WB
Moh MC , et al. 2008
CLCN2 chloride channel, voltage-sensitive 2 1181 P51788 IP/WB; Split-TEV assay
Jeworutzki E , et al. 2012
HEPACAM hepatic and glial cell adhesion molecule 220296 Q14CZ8 Crosslinking assay; IP/WB
Moh MC , et al. 2005
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 23209 Q15049 Split-TEV assay; FRET
Lpez-Hernndez T , et al. 2011
Cfp complement factor properdin 5199 P27918 SELDI-TOF MS; Reversed-phase chromatography (RPC); Nano-LC/MS/MS
Favre-Kontula L , et al. 2008
Mbl2 mannose-binding lectin (protein C) 2 17195 P41317 SELDI-TOF MS; Reversed-phase chromatography (RPC); Nano-LC/MS/MS
Favre-Kontula L , et al. 2008
Nr2f2 nuclear receptor subfamily 2, group F, member 2 11819 P43135 ChIP
Wu SP , et al. 2013

HELP
Copyright © 2017 MindSpec, Inc.