HEPACAM Chromosome 11
Hepatic and glial cell adhesion molecule
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What This Gene Does
The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
Gene Info
Gene Group
"V-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000165478
Associated Conditions (13)
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts 2A
Inborn genetic diseases
Megalencephalic leukoencephalopathy with subcortical cysts 2B
remitting
with or without intellectual disability
HEPACAM-related disorder
Autism spectrum disorder
Intellectual disability
Megalencephalic leukoencephalopathy with subcortical cysts 1
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B
REMITTING
WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Key Variants
RS1027354479
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
Health Risk
RS137886095
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
Health Risk
RS142346902
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A
Health Risk
RS143069676
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
Health Risk
RS148838622
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts, Inborn genetic diseases, Megalencephalic leukoencephalopathy with subcortical cysts
Health Risk
RS149093986
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149730492
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 2A, Inborn genetic diseases, Megalencephalic leukoencephalopathy with subcortical cysts 2A
Health Risk
RS149782549
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1947184803
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting
Health Risk
RS201011094
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
Health Risk
RS372037019
Conflicting classifications of pathogenicity
Megalencephalic leukoencephalopathy with subcortical cysts, HEPACAM-related disorder, Megalencephalic leukoencephalopathy with subcortical cysts
Health Risk
RS372070386
Conflicting classifications of pathogenicity
Inborn genetic diseases, HEPACAM-related disorder, Inborn genetic diseases
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1027354479 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS137886095 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS142346902 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A |
| RS143069676 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS148838622 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, Inborn genetic diseases, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS149093986 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149730492 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Inborn genetic diseases, Megalencephalic leukoencephalopathy with subcortical cysts 2A |
| RS149782549 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1947184803 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting |
| RS201011094 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS372037019 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, HEPACAM-related disorder, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS372070386 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, HEPACAM-related disorder, Inborn genetic diseases |
| RS374953883 | Health Risk | Conflicting classifications of pathogenicity | HEPACAM-related disorder, HEPACAM-related disorder |
| RS375712202 | Health Risk | Conflicting classifications of pathogenicity | Autism spectrum disorder, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting |
| RS532459336 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS536963649 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, Intellectual disability, HEPACAM-related disorder |
| RS544709540 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS545531081 | Health Risk | Conflicting classifications of pathogenicity | HEPACAM-related disorder, HEPACAM-related disorder |
| RS768700664 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2B |
| RS770477104 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Inborn genetic diseases, Megalencephalic leukoencephalopathy with subcortical cysts 2B |
| RS781748998 | Health Risk | Conflicting classifications of pathogenicity | Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts |
| RS1339214600 | Health Risk | Likely pathogenic | — |
| RS1555055028 | Health Risk | Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting |
| RS1555056722 | Health Risk | Likely pathogenic | — |
| RS1565339091 | Health Risk | Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS2135400018 | Health Risk | Likely pathogenic | — |
| RS2497455398 | Health Risk | Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A |
| RS387907052 | Health Risk | Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A |
| RS387907054 | Health Risk | Likely pathogenic | MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT |
| RS786205618 | Health Risk | Likely pathogenic | — |
| RS1064793629 | Health Risk | Pathogenic | — |
| RS1193449236 | Health Risk | Pathogenic | — |
| RS2135399091 | Health Risk | Pathogenic | — |
| RS2497463030 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A |
| RS2497470215 | Health Risk | Pathogenic | — |
| RS387907049 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A |
| RS387907051 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A |
| RS387907055 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability |
| RS752637604 | Health Risk | Pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability |
| RS387907050 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2A, Megalencephalic leukoencephalopathy with subcortical cysts 2A |
| RS387907053 | Health Risk | Pathogenic/Likely pathogenic | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability |