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Protein

Limbin

Gene

EVC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Plays a critical role in bone formation and skeletal development. May be involved in early embryonic morphogenesis.By similarity

GO - Biological processi

Enzyme and pathway databases

ReactomeiR-HSA-5632684 Hedgehog 'on' state
R-HSA-5635838 Activation of SMO

Names & Taxonomyi

Protein namesi
Recommended name:
Limbin
Alternative name(s):
Ellis-van Creveld syndrome protein 2
Short name:
EVC2
Gene namesi
Name:EVC2
Synonyms:LBN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000173040.12
HGNCiHGNC:19747 EVC2
MIMi607261 gene
neXtProtiNX_Q86UK5

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini27 – 300ExtracellularSequence analysisAdd BLAST274
Transmembranei301 – 321HelicalSequence analysisAdd BLAST21
Topological domaini322 – 1308CytoplasmicSequence analysisAdd BLAST987

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Ellis-van Creveld syndrome (EVC)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive condition characterized by the clinical tetrad of chondrodystrophy, polydactyly, ectodermal dysplasia and cardiac anomalies. Patients manifest short-limb dwarfism, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital heart defects, most commonly an atrioventricular septal defect, are observed in 60% of affected individuals.
See also OMIM:225500
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017209283I → R in EVC. 1 PublicationCorresponds to variant dbSNP:rs137852926Ensembl.1
Natural variantiVAR_017211950R → W in EVC. 1 PublicationCorresponds to variant dbSNP:rs137852928Ensembl.1
Acrofacial dysostosis, Weyers type (WAD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.
See also OMIM:193530

Keywords - Diseasei

Ciliopathy, Disease mutation, Dwarfism, Ectodermal dysplasia

Organism-specific databases

DisGeNETi132884
MalaCardsiEVC2
MIMi193530 phenotype
225500 phenotype
OpenTargetsiENSG00000173040
Orphaneti952 Acrofacial dysostosis, Weyers type
289 Ellis Van Creveld syndrome
PharmGKBiPA134989044

Polymorphism and mutation databases

BioMutaiEVC2
DMDMi38257827

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 26Sequence analysisAdd BLAST26
ChainiPRO_000008436327 – 1308LimbinAdd BLAST1282

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ86UK5
PeptideAtlasiQ86UK5
PRIDEiQ86UK5

PTM databases

iPTMnetiQ86UK5
PhosphoSitePlusiQ86UK5

Expressioni

Tissue specificityi

Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.1 Publication

Gene expression databases

BgeeiENSG00000173040
CleanExiHS_EVC2
ExpressionAtlasiQ86UK5 baseline and differential
GenevisibleiQ86UK5 HS

Organism-specific databases

HPAiHPA040910
HPA048122

Interactioni

Subunit structurei

Component of the EvC complex composed of EFCAB7, IQCE, EVC2 and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE. Interacts with EVC. Interacts (via N-terminal end) with EFCAB7. Interacts (via N-terminal end) with IQCE.By similarity

Protein-protein interaction databases

BioGridi126340, 85 interactors
IntActiQ86UK5, 84 interactors
MINTiQ86UK5
STRINGi9606.ENSP00000342144

Structurei

3D structure databases

ProteinModelPortaliQ86UK5
SMRiQ86UK5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili455 – 578Sequence analysisAdd BLAST124
Coiled coili636 – 800Sequence analysisAdd BLAST165
Coiled coili1001 – 1113Sequence analysisAdd BLAST113

Keywords - Domaini

Coiled coil, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IGSC Eukaryota
ENOG4111Y8B LUCA
GeneTreeiENSGT00390000014437
HOGENOMiHOG000113288
HOVERGENiHBG045574
InParanoidiQ86UK5
KOiK19608
OMAiKLEHSQF
OrthoDBiEOG091G0FQY
PhylomeDBiQ86UK5
TreeFamiTF331379

Family and domain databases

InterProiView protein in InterPro
IPR022076 Limbin
IPR026501 Limbin/Ellis-van_Creveld
PANTHERiPTHR16795 PTHR16795, 1 hit
PfamiView protein in Pfam
PF12297 EVC2_like, 1 hit

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q86UK5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDPSGSRGRP TWVLAGGLLA VALALGGRGC LGASSRPRWR PLGAQPPRDP
60 70 80 90 100
QVAPRSGPGL RIPPGRSGAG PESSTQDLPC MIWPKVECCH FKTAVEAPLG
110 120 130 140 150
MKLDKKMEVF IPLSTSAASS GPWAHSLFAF IPSWPKKNLF KRESPITHRL
160 170 180 190 200
YGDISREVQG TSENGVIFQK CALVSGSSEA QTARIWLLVN NTKTTSSANL
210 220 230 240 250
SELLLLDSIA GLTIWDSVGN RTSEGFQAFS KKFLQVGDAF AVSYAATLQA
260 270 280 290 300
GDLGNGESLK LPAQLTFQSS SRNRTQLKVL FSITAEENVT VLPHHGLHAA
310 320 330 340 350
GFFIAFLLSL VLTWAALFLM VRYQCLKGNM LTRHRVWQYE SKLEPLPFTS
360 370 380 390 400
ADGVNEDLSL NDQMIDILSS EDPGSMLQAL EELEIATLNR ADADLEACRT
410 420 430 440 450
QISKDIIALL LKNLTSSGHL SPQVERKMSA VFKKQFLLLE NEIQEEYDRK
460 470 480 490 500
MVALTAECDL ETRKKMENQY QREMMAMEEA EELLKRAGER SAVECSNLLR
510 520 530 540 550
TLHGLEQEHL RKSLALQQEE DFAKAHRQLA VFQRNELHSI FFTQIKSAIF
560 570 580 590 600
KGELKPEAAK MLLQNYSKIQ ENVEELMDFF QASKRYHLSK RFGHREYLVQ
610 620 630 640 650
NLQSSETRVQ GLLSTAAAQL THLIQKHERA GYLDEDQMEM LLERAQTEVF
660 670 680 690 700
SIKQKLDNDL KQEKKKLHQK LITKRRRELL QKHREQRREQ ASVGEAFRTV
710 720 730 740 750
EDAGQYLHQK RSLMEEHGAT LEELQERLDQ AALDDLRTLT LSLFEKATDE
760 770 780 790 800
LRRLQNSAMT QELLKRGVPW LFLQQILEEH GKEMAARAEQ LEGEERDRDQ
810 820 830 840 850
EGVQSVRQRL KDDAPEAVTE EQAELRRWEH LIFMKLCSSV FSLSEEELLR
860 870 880 890 900
MRQEVHGCFA QMDRSLALPK IRARVLLQQF QTAWREAEFV KLDQAVAAPE
910 920 930 940 950
LQQQSKVRKS RSKSKSKGEL LKKCIEDKIH LCEEQASEDL VEKVRGELLR
960 970 980 990 1000
ERVQRMEAQE GGFAQSLVAL QFQKASRVTE TLSAYTALLS IQDLLLEELS
1010 1020 1030 1040 1050
ASEMLTKSAC TQILESHSRE LQELERKLED QLVQQEAAQQ QQALASWQQW
1060 1070 1080 1090 1100
VADGPGILNE PGEVDSERQV STVLHQALSK SQTLLEQHQQ CLREEQQNSV
1110 1120 1130 1140 1150
VLEDLLENME ADTFATLCSQ ELRLASYLAR MAMVPGATLR RLLSVVLPTA
1160 1170 1180 1190 1200
SQPQLLALLD SATERHVDHA AESDGGAEQA DVGRRRKHQS WWQALDGKLR
1210 1220 1230 1240 1250
GDLISRGLEK MLWARKRKQS ILKKTCLPLR ERMIFSGKGS WPHLSLEPIG
1260 1270 1280 1290 1300
ELAPVPIVGA ETIDLLNTGE KLFIFRNPKE PEISLHVPPR KKKNFLNAKK

AMRALGMD
Length:1,308
Mass (Da):147,948
Last modified:June 1, 2003 - v1
Checksum:iD1EC635F43495A9A
GO
Isoform 2 (identifier: Q86UK5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-80: Missing.

Show »
Length:1,228
Mass (Da):139,860
Checksum:i24826594C592CCB6
GO
Isoform 3 (identifier: Q86UK5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1220-1308: SILKKTCLPL...KKAMRALGMD → RSGNQESFWQYLVGTPEIGLIEWMSEK

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:1,246
Mass (Da):141,159
Checksum:i02C628E8B2E15ED4
GO

Sequence cautioni

The sequence AAN86577 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAN86578 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1106L → W in AAN86577 (PubMed:12468274).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051089230S → G. Corresponds to variant dbSNP:rs4689278EnsemblClinVar.1
Natural variantiVAR_017209283I → R in EVC. 1 PublicationCorresponds to variant dbSNP:rs137852926Ensembl.1
Natural variantiVAR_035933630A → S in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_017210699T → A. Corresponds to variant dbSNP:rs730469EnsemblClinVar.1
Natural variantiVAR_017211950R → W in EVC. 1 PublicationCorresponds to variant dbSNP:rs137852928Ensembl.1
Natural variantiVAR_035934994L → V in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0088481 – 80Missing in isoform 2. 1 PublicationAdd BLAST80
Alternative sequenceiVSP_0088491220 – 1308SILKK…ALGMD → RSGNQESFWQYLVGTPEIGL IEWMSEK in isoform 3. 1 PublicationAdd BLAST89

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB083067 mRNA Translation: BAC06590.1
AY185210 mRNA Translation: AAO22066.1
AY152402 mRNA Translation: AAN86577.1 Different initiation.
AY152403 mRNA Translation: AAN86578.1 Different initiation.
CCDSiCCDS3382.2 [Q86UK5-1]
CCDS54718.1 [Q86UK5-2]
RefSeqiNP_001159608.1, NM_001166136.1 [Q86UK5-2]
NP_667338.3, NM_147127.4 [Q86UK5-1]
XP_016863225.1, XM_017007736.1 [Q86UK5-2]
XP_016863226.1, XM_017007737.1 [Q86UK5-2]
UniGeneiHs.87306

Genome annotation databases

EnsembliENST00000310917; ENSP00000311683; ENSG00000173040 [Q86UK5-2]
ENST00000344408; ENSP00000342144; ENSG00000173040 [Q86UK5-1]
GeneIDi132884
KEGGihsa:132884
UCSCiuc003gij.4 human [Q86UK5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiLBN_HUMAN
AccessioniPrimary (citable) accession number: Q86UK5
Secondary accession number(s): Q86YT3, Q86YT4, Q8NG49
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: June 1, 2003
Last modified: February 28, 2018
This is version 121 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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