Seroatlas · Human Serome Atlas

EVC2

Limbin

Also known as: LBN, LBN_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q86UK5
Gene: EVC2
Ensembl: ENSG00000173040
Chromosome: 4
Canonical length: 1308 aa
Protein class: Disease related genes, Human disease related genes, Predicted membrane proteins
Subcellular location: Nucleoplasm,Microtubules,Cytokinetic bridge,Cytosol

OverviewNCBI Gene

This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

Canonical amino-acid sequenceUniProt

1308 residues, UniProt reviewed canonical sequence.

>Q86UK5|EVC2
     1  MDPSGSRGRP TWVLAGGLLA VALALGGRGC LGASSRPRWR PLGAQPPRDP QVAPRSGPGL
    61  RIPPGRSGAG PESSTQDLPC MIWPKVECCH FKTAVEAPLG MKLDKKMEVF IPLSTSAASS
   121  GPWAHSLFAF IPSWPKKNLF KRESPITHRL YGDISREVQG TSENGVIFQK CALVSGSSEA
   181  QTARIWLLVN NTKTTSSANL SELLLLDSIA GLTIWDSVGN RTSEGFQAFS KKFLQVGDAF
   241  AVSYAATLQA GDLGNGESLK LPAQLTFQSS SRNRTQLKVL FSITAEENVT VLPHHGLHAA
   301  GFFIAFLLSL VLTWAALFLM VRYQCLKGNM LTRHRVWQYE SKLEPLPFTS ADGVNEDLSL
   361  NDQMIDILSS EDPGSMLQAL EELEIATLNR ADADLEACRT QISKDIIALL LKNLTSSGHL
   421  SPQVERKMSA VFKKQFLLLE NEIQEEYDRK MVALTAECDL ETRKKMENQY QREMMAMEEA
   481  EELLKRAGER SAVECSNLLR TLHGLEQEHL RKSLALQQEE DFAKAHRQLA VFQRNELHSI
   541  FFTQIKSAIF KGELKPEAAK MLLQNYSKIQ ENVEELMDFF QASKRYHLSK RFGHREYLVQ
   601  NLQSSETRVQ GLLSTAAAQL THLIQKHERA GYLDEDQMEM LLERAQTEVF SIKQKLDNDL
   661  KQEKKKLHQK LITKRRRELL QKHREQRREQ ASVGEAFRTV EDAGQYLHQK RSLMEEHGAT
   721  LEELQERLDQ AALDDLRTLT LSLFEKATDE LRRLQNSAMT QELLKRGVPW LFLQQILEEH
   781  GKEMAARAEQ LEGEERDRDQ EGVQSVRQRL KDDAPEAVTE EQAELRRWEH LIFMKLCSSV
   841  FSLSEEELLR MRQEVHGCFA QMDRSLALPK IRARVLLQQF QTAWREAEFV KLDQAVAAPE
   901  LQQQSKVRKS RSKSKSKGEL LKKCIEDKIH LCEEQASEDL VEKVRGELLR ERVQRMEAQE
   961  GGFAQSLVAL QFQKASRVTE TLSAYTALLS IQDLLLEELS ASEMLTKSAC TQILESHSRE
  1021  LQELERKLED QLVQQEAAQQ QQALASWQQW VADGPGILNE PGEVDSERQV STVLHQALSK
  1081  SQTLLEQHQQ CLREEQQNSV VLEDLLENME ADTFATLCSQ ELRLASYLAR MAMVPGATLR
  1141  RLLSVVLPTA SQPQLLALLD SATERHVDHA AESDGGAEQA DVGRRRKHQS WWQALDGKLR
  1201  GDLISRGLEK MLWARKRKQS ILKKTCLPLR ERMIFSGKGS WPHLSLEPIG ELAPVPIVGA
  1261  ETIDLLNTGE KLFIFRNPKE PEISLHVPPR KKKNFLNAKK AMRALGMD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EVC2 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: Cell surface
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.4
Highest tissue expression: 7.5 nTPM

Expression across tissuesHPA

Tissue

ovary: 7.5 nTPM
cervix: 5.3 nTPM
blood vessel: 4.9 nTPM
endometrium: 4.7 nTPM
adipose tissue: 4.6 nTPM
fallopian tube: 4.5 nTPM

Single-cell type

fibro-adipogenic progenitors: 110 nCPM
myosatellite cells: 61 nCPM
proximal tubule cells: 59 nCPM
loop of henle epithelial cells: 58 nCPM
renal collecting duct intercalated cells: 58 nCPM
mesothelial cells: 57 nCPM

Immune cell

T-reg: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

choroid plexus: 3.9 nTPM
medulla oblongata: 2.3 nTPM
midbrain: 2.1 nTPM
thalamus: 2 nTPM
hypothalamus: 1.9 nTPM
spinal cord: 1.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EVC2.

Disease | AllUniProt

Conditions EVC2 is implicated in, by any mechanism.

Ellis-van Creveld syndrome (EVC) MIM:225500
Acrofacial dysostosis, Weyers type (WAD) MIM:193530

Disease | GeneticClinVar

339 pathogenic / likely-pathogenic of 2,266 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 1.06
gnomAD pLI: 0
gnomAD missense Z: -2.14
DepMap mean gene effect: 0.09
DepMap dependency class: none

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

smoothened signaling pathway

Cellular components

Protein domainsUniProt · Pfam · InterPro

Limbin/EvC complex member EVC
Limbin
Ellis van Creveld protein 2 like protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EVC2 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 EVC2 as an antibody target. Whether an autoantibody or antibody against EVC2 could matter depends on whether native EVC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EVC2 is annotated at the cell surface, where native EVC2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label EVC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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