Seroatlas · Human Serome Atlas

EFEMP2

EGF-containing fibulin-like extracellular matrix protein 2

Also known as: FBLN4, FBLN4_HUMAN, UPH1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O95967
Gene: EFEMP2
Ensembl: ENSG00000172638
Chromosome: 11
Canonical length: 443 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Secretome location: Secreted to extracellular matrix
Quaternary structure: Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

443 residues, UniProt reviewed canonical sequence.

>O95967|EFEMP2
     1  MLPCASCLPG SLLLWALLLL LLGSASPQDS EEPDSYTECT DGYEWDPDSQ HCRDVNECLT
    61  IPEACKGEMK CINHYGGYLC LPRSAAVIND LHGEGPPPPV PPAQHPNPCP PGYEPDDQDS
   121  CVDVDECAQA LHDCRPSQDC HNLPGSYQCT CPDGYRKIGP ECVDIDECRY RYCQHRCVNL
   181  PGSFRCQCEP GFQLGPNNRS CVDVNECDMG APCEQRCFNS YGTFLCRCHQ GYELHRDGFS
   241  CSDIDECSYS SYLCQYRCIN EPGRFSCHCP QGYQLLATRL CQDIDECESG AHQCSEAQTC
   301  VNFHGGYRCV DTNRCVEPYI QVSENRCLCP ASNPLCREQP SSIVHRYMTI TSERSVPADV
   361  FQIQATSVYP GAYNAFQIRA GNSQGDFYIR QINNVSAMLV LARPVTGPRE YVLDLEMVTM
   421  NSLMSYRASS VLRLTVFVGA YTF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EFEMP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.39
Highest tissue expression: 85 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 85 nTPM
ovary: 76 nTPM
heart muscle: 71 nTPM
endometrium: 58 nTPM
cervix: 57 nTPM
fallopian tube: 44 nTPM

Single-cell type

decidual stromal cells: 273 nCPM
hepatic stellate cells: 149 nCPM
late primary spermatocytes: 107 nCPM
peritubular myoid cells: 100 nCPM
fibroblasts: 97 nCPM
ovarian stromal cells: 95 nCPM

Immune cell

gdT-cell: 1.7 nTPM
NK-cell: 0.7 nTPM
eosinophil: 0.5 nTPM
naive CD8 T-cell: 0.2 nTPM
neutrophil: 0.2 nTPM
total PBMC: 0.2 nTPM

Brain region

medulla oblongata: 30 nTPM
choroid plexus: 24 nTPM
cerebral cortex: 22 nTPM
thalamus: 22 nTPM
basal ganglia: 20 nTPM
pons: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EFEMP2.

Disease | AllUniProt

Conditions EFEMP2 is implicated in, by any mechanism.

Cutis laxa, autosomal recessive, 1B (ARCL1B) MIM:614437

Disease | GeneticClinVar

44 pathogenic / likely-pathogenic of 639 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cutis laxa, autosomal recessive, type 1B
Cutis laxa, autosomal recessive, type 1A
Cardiovascular phenotype
Familial aortopathy
Autosomal recessive EFEMP2-related disorders

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.6
gnomAD pLI: 0.01
gnomAD missense Z: 0.98
DepMap mean gene effect: -0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

aorta development
aorta smooth muscle tissue morphogenesis
elastic fiber assembly
negative regulation of vascular associated smooth muscle cell proliferation
positive regulation of aortic smooth muscle cell differentiation
positive regulation of collagen fibril organization
regulation of collagen fibril organization
vascular associated smooth muscle cell development
positive regulation of smooth muscle cell-matrix adhesion

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EFEMP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EFEMP2 as an antibody target. Whether an autoantibody or antibody against EFEMP2 could matter depends on whether native EFEMP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EFEMP2 is annotated as secreted, so native EFEMP2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label EFEMP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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