Gene entry
EFEMP2
EGF-like fibulin extracellular matrix protein 2
- Chromosome
- 11
- Cytoband
- 11q13.1
- Variants (rsID)
- 5
EFEMP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 11 (region 11q13.1). Its official name is “EGF-like fibulin extracellular matrix protein 2”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs181514768Benignsingle nucleotide variantCutis laxa, autosomal recessive, type 1B
- rs119489101Pathogenicsingle nucleotide variantCutis laxa, autosomal recessive, type 1B|Cutis laxa, autosomal recessive, type 1A
- rs193302864Pathogenicsingle nucleotide variantCutis laxa, autosomal recessive, type 1A|Cutis laxa, autosomal recessive, type 1B
- rs193302867Pathogenicsingle nucleotide variantCutis laxa, autosomal recessive, type 1A|Cutis laxa, autosomal recessive, type 1B
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.