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Gene · 2202

EFEMP1: EGF-like fibulin extracellular matrix protein 1

12 sourcesgene-search-2026-11-11-0.2.0

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ConductScience Library. EFEMP1: EGF-like fibulin extracellular matrix protein 1. Genes, record 2202. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/2202

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Gene

Symbol
EFEMP1
HGNC
Name
EGF-like fibulin extracellular matrix protein 1
HGNC
NCBI Gene ID
2202
NCBI Gene
HGNC ID
HGNC:3218
HGNC
Ensembl
ENSG00000115380
NCBI Gene
Aliases
ARCL1D, DHRD, DRAD, FBLN3, FBNL, FIBL-3, GLC1H, MLVT, MTLV, S1-5
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
Q12805EGF-containing fibulin-like extracellular matrix protein 14930Ensembl, GeneID, HGNC

Source UniProt

Patents109

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
JP 2026004568 A2026-01-1444758Q12805Espacenet
JP 2026004568 A2026-01-1444759Q12805Espacenet
JP 2026004568 A2026-01-1444760Q12805Espacenet
WO 2025259600 A22025-12-1889Q12805Espacenet
EP 4650780 A22025-11-197168Q12805Espacenet
EP 4641201 A22025-10-297084Q12805Espacenet
JP 2025147176 A2025-10-064565Q12805Espacenet
JP 2025147176 A2025-10-064566Q12805Espacenet
JP 2025529142 A2025-09-046232Q12805Espacenet
US 12371689 B22025-07-296232Q12805Espacenet

1 to 10 of 109

See all 109 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants1,569

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleEFEMP1 papersNewest fiscal year
P30EY014104P30 Core Grant for Vision Research82025
P30EY030413Core Grant for Vision Research72025
P30CA008748Cancer Center Support Grant52025
P30CA062203Cancer Center Support Grant52025
R01EY018213Defining Barriers to Gene Therapy52025
P30DK063491Diabetes Research Center (DRC)42025
P30ES010126UNC Center for Environmental Health and Susceptibility42025
P30EY000331Vision Research Core at UCLA42025
R01NS017950Precursors of Stroke Incidence and Prognosis42025
ZIAEY000433Functional Analysis of Novel Genes in Eye Development and Vision42025

1 to 10 of 1,569Source NIH's project files

See all 1,569 nih grants

Papers1,739

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
Whole-Transcriptome Analysis of Three Human Cell Lines Stably Infected with Bovine Leukemia Virus (BLV) Reveals Novel Apoptosis-Associated Factors.Viruses202642797767PubTator, text miningPubMed
Correlation analysis of serum PACAP-38, fibulin-3 and TEM1 levels with cardiac function and prognosis in chronic heart failure patients.J Med Biochem202642780739PubTator, text miningPubMed
Connective tissue and genetics in the pathogenesis of rectal prolapse: A scoping review.Colorectal Dis202642765168PubTator, text miningPubMed
Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1.JAMA Ophthalmol202642720932PubTator, text miningPubMed
The First Case Series of Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy in Türkiye Identified with EFEMP1 Gene Mutation.Turk J Ophthalmol202642644559PubTator, text miningPubMed
Genome-wide association study of image-based emphysema scoring in the Swedish CArdioPulmonary bioImage Study (SCAPIS) suggests two new risk loci in smokers.Respir Res202642634071PubTator, text miningPubMed
Development of an antisense oligonucleotide targeting EFEMP1 in models relevant to macular degeneration.Mol Ther Nucleic Acids202642597498PubTator, text miningPubMed
Interactions Between Epidermal Growth Factor-Containing Fibulin-Like Extracellular Matrix Protein 1 and Tissue Inhibitor of Metalloproteinases-3 and Relevance to Age-Related Macular Degeneration.Ophthalmol Sci202642569289PubTator, text miningPubMed
Multimodal Imaging of Dual BEST1/EFEMP1-Associated Hereditary Macular Disease.J Clin Med202642513409PubTator, text miningPubMed
Restoration of impaired lysosomal function mitigates drusen-like deposit formation and cell death in Malattia Leventinese.JCI Insight202642484373PubTator, text miningPubMed

1 to 10 of 1,739

See all 1,739 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this gene from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/genes/v1/2202

GET https://conductscience.org/api/genes/v1/2202/patents?page=2