EFEMP2 Chromosome 11
EGF-like fibulin extracellular matrix protein 2
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What This Gene Does
A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
Fibulins
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000172638
Associated Conditions (9)
Cutis laxa
autosomal recessive
type 1B
Cardiovascular phenotype
Familial thoracic aortic aneurysm and aortic dissection
EFEMP2-related disorder
Ovarian serous cystadenocarcinoma
type 1A
Familial aortopathy
Key Variants
RS113167523
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS1224841813
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS1306393544
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS140946753
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS141868759
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS142509316
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS1442174846
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS148315164
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS148410446
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS149525720
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS187686630
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
RS188624478
Conflicting classifications of pathogenicity
Cutis laxa, autosomal recessive, type 1B
Health Risk
All Variants (56)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397514683 | Health Risk | Pathogenic | Cutis laxa, autosomal recessive, type 1B |
| RS763944898 | Health Risk | Pathogenic | Cutis laxa, autosomal recessive, type 1B |
| RS1423701653 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa, autosomal recessive, type 1B |
| RS193302864 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa, autosomal recessive, type 1A |
| RS193302867 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa, autosomal recessive, type 1A |
| RS761656636 | Health Risk | Pathogenic/Likely pathogenic | Cutis laxa, autosomal recessive, type 1B |