EFEMP1 EGF containing fibulin extracellular matrix protein 1
Gene ID: 2202, updated on 13-Apr-2024Gene type: protein coding
Also known as: DHRD; DRAD; FBNL; MLVT; MTLV; S1-5; FBLN3; GLC1H; ARCL1D; FIBL-3
- See all available tests in GTR for this gene
- Go to complete Gene record for EFEMP1
- Go to Variation Viewer for EFEMP1 variants
Summary
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci. GeneReviews: Not available | |
| A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis. GeneReviews: Not available | |
| A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. GeneReviews: Not available | |
| CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID | not available |
| Doyne honeycomb retinal dystrophy | See labs |
| Genome-wide association analysis identifies 20 loci that influence adult height. GeneReviews: Not available | |
| Genome-wide association analysis identifies six new loci associated with forced vital capacity. GeneReviews: Not available | |
| Genome-wide association study of height and body mass index in Australian twin families. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. GeneReviews: Not available | |
| Glaucoma 1, open angle, H | See labs |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Identification of 15 loci influencing height in a Korean population. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available | |
| Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. GeneReviews: Not available |
Genomic context
- Location:
- 2p16.1
- Sequence:
- Chromosome: 2; NC_000002.12 (55865967..55923782, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EFEMP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALSoD/EFEMP1 genetic mutations
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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