FHL2 Chromosome 2
Four and a half LIM domains 2
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What This Gene Does
This gene encodes a member of the four-and-a-half-LIM-only protein family. Family members contain two highly conserved, tandemly arranged, zinc finger domains with four highly conserved cysteines binding a zinc atom in each zinc finger. This protein is thought to have a role in the assembly of extracellular membranes. Also, this gene is down-regulated during transformation of normal myoblasts to rhabdomyosarcoma cells and the encoded protein may function as a link between presenilin-2 and an intracellular signaling pathway. Multiple alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
LIM domain containing
Locus Type
gene with protein product
Location
2q12.2
Ensembl
ENSG00000115641
Associated Conditions (4)
Primary dilated cardiomyopathy
Cardiomyopathy
FHL2-related disorder
FHL2-related cardiomyopathy
Key Variants
RS1018740778
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS140148322
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, Cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
RS199585402
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, FHL2-related disorder, Primary dilated cardiomyopathy
Health Risk
RS371421189
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, FHL2-related disorder, Primary dilated cardiomyopathy
Health Risk
RS397517959
Conflicting classifications of pathogenicity
Primary dilated cardiomyopathy, FHL2-related cardiomyopathy, Primary dilated cardiomyopathy
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1018740778 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS140148322 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Cardiomyopathy, Primary dilated cardiomyopathy |
| RS199585402 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, FHL2-related disorder, Primary dilated cardiomyopathy |
| RS371421189 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, FHL2-related disorder, Primary dilated cardiomyopathy |
| RS397517959 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, FHL2-related cardiomyopathy, Primary dilated cardiomyopathy |