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Q86UK5 (LBN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Limbin
Alternative name(s):
Ellis-van Creveld syndrome protein 2
Short name=EVC2
Gene names
Name:EVC2
Synonyms:LBN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1308 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Positive regulator of the hedgehog signaling pathway By similarity. Plays a critical role in bone formation and skeletal development.

Subunit structure

Interacts with EVC By similarity.

Subcellular location

Cell membrane; Single-pass type I membrane protein By similarity. Cytoplasmcytoskeletoncilium basal body By similarity. Cell projectioncilium By similarity. Cell projectioncilium membrane By similarity. Nucleus By similarity.

Tissue specificity

Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas. Ref.3

Involvement in disease

Ellis-van Creveld syndrome (EVC) [MIM:225500]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.3

Acrofacial dysostosis, Weyers type (WAD) [MIM:193530]: An 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence caution

The sequence AAN86577.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAN86578.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q86UK5-1)

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.
Isoform 2 (identifier: Q86UK5-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-80: Missing.
Isoform 3 (identifier: Q86UK5-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2626 Potential
Chain27 – 13081282Limbin
PRO_0000084363

Regions

Topological domain27 – 300274Extracellular Potential
Transmembrane301 – 32121Helical; Potential
Topological domain322 – 1308987Cytoplasmic Potential
Coiled coil455 – 578124 Potential
Coiled coil636 – 800165 Potential
Coiled coil1001 – 1113113 Potential

Amino acid modifications

Glycosylation2201N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 8080Missing in isoform 2.
VSP_008848
Alternative sequence1220 – 130889SILKK…ALGMD → RSGNQESFWQYLVGTPEIGL IEWMSEK in isoform 3.
VSP_008849
Natural variant2301S → G.
Corresponds to variant rs4689278 [ dbSNP | Ensembl ].
VAR_051089
Natural variant2831I → R in EVC. Ref.2
VAR_017209
Natural variant6301A → S in a colorectal cancer sample; somatic mutation. Ref.5
VAR_035933
Natural variant6991T → A.
Corresponds to variant rs730469 [ dbSNP | Ensembl ].
VAR_017210
Natural variant9501R → W in EVC. Ref.3
VAR_017211
Natural variant9941L → V in a colorectal cancer sample; somatic mutation. Ref.5
VAR_035934

Experimental info

Sequence conflict11061L → W in AAN86577. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 2003. Version 1.
Checksum: D1EC635F43495A9A

FASTA1,308147,948
        10         20         30         40         50         60 
MDPSGSRGRP TWVLAGGLLA VALALGGRGC LGASSRPRWR PLGAQPPRDP QVAPRSGPGL 

        70         80         90        100        110        120 
RIPPGRSGAG PESSTQDLPC MIWPKVECCH FKTAVEAPLG MKLDKKMEVF IPLSTSAASS 

       130        140        150        160        170        180 
GPWAHSLFAF IPSWPKKNLF KRESPITHRL YGDISREVQG TSENGVIFQK CALVSGSSEA 

       190        200        210        220        230        240 
QTARIWLLVN NTKTTSSANL SELLLLDSIA GLTIWDSVGN RTSEGFQAFS KKFLQVGDAF 

       250        260        270        280        290        300 
AVSYAATLQA GDLGNGESLK LPAQLTFQSS SRNRTQLKVL FSITAEENVT VLPHHGLHAA 

       310        320        330        340        350        360 
GFFIAFLLSL VLTWAALFLM VRYQCLKGNM LTRHRVWQYE SKLEPLPFTS ADGVNEDLSL 

       370        380        390        400        410        420 
NDQMIDILSS EDPGSMLQAL EELEIATLNR ADADLEACRT QISKDIIALL LKNLTSSGHL 

       430        440        450        460        470        480 
SPQVERKMSA VFKKQFLLLE NEIQEEYDRK MVALTAECDL ETRKKMENQY QREMMAMEEA 

       490        500        510        520        530        540 
EELLKRAGER SAVECSNLLR TLHGLEQEHL RKSLALQQEE DFAKAHRQLA VFQRNELHSI 

       550        560        570        580        590        600 
FFTQIKSAIF KGELKPEAAK MLLQNYSKIQ ENVEELMDFF QASKRYHLSK RFGHREYLVQ 

       610        620        630        640        650        660 
NLQSSETRVQ GLLSTAAAQL THLIQKHERA GYLDEDQMEM LLERAQTEVF SIKQKLDNDL 

       670        680        690        700        710        720 
KQEKKKLHQK LITKRRRELL QKHREQRREQ ASVGEAFRTV EDAGQYLHQK RSLMEEHGAT 

       730        740        750        760        770        780 
LEELQERLDQ AALDDLRTLT LSLFEKATDE LRRLQNSAMT QELLKRGVPW LFLQQILEEH 

       790        800        810        820        830        840 
GKEMAARAEQ LEGEERDRDQ EGVQSVRQRL KDDAPEAVTE EQAELRRWEH LIFMKLCSSV 

       850        860        870        880        890        900 
FSLSEEELLR MRQEVHGCFA QMDRSLALPK IRARVLLQQF QTAWREAEFV KLDQAVAAPE 

       910        920        930        940        950        960 
LQQQSKVRKS RSKSKSKGEL LKKCIEDKIH LCEEQASEDL VEKVRGELLR ERVQRMEAQE 

       970        980        990       1000       1010       1020 
GGFAQSLVAL QFQKASRVTE TLSAYTALLS IQDLLLEELS ASEMLTKSAC TQILESHSRE 

      1030       1040       1050       1060       1070       1080 
LQELERKLED QLVQQEAAQQ QQALASWQQW VADGPGILNE PGEVDSERQV STVLHQALSK 

      1090       1100       1110       1120       1130       1140 
SQTLLEQHQQ CLREEQQNSV VLEDLLENME ADTFATLCSQ ELRLASYLAR MAMVPGATLR 

      1150       1160       1170       1180       1190       1200 
RLLSVVLPTA SQPQLLALLD SATERHVDHA AESDGGAEQA DVGRRRKHQS WWQALDGKLR 

      1210       1220       1230       1240       1250       1260 
GDLISRGLEK MLWARKRKQS ILKKTCLPLR ERMIFSGKGS WPHLSLEPIG ELAPVPIVGA 

      1270       1280       1290       1300 
ETIDLLNTGE KLFIFRNPKE PEISLHVPPR KKKNFLNAKK AMRALGMD 

« Hide

Isoform 2 [UniParc].

Checksum: 24826594C592CCB6
Show »

FASTA1,228139,860
Isoform 3 [UniParc].

Checksum: 02C628E8B2E15ED4
Show »

FASTA1,246141,159

References

« Hide 'large scale' references
[1]"Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism."
Takeda H., Takami M., Oguni T., Tsuji T., Yoneda K., Sato H., Ihara N., Itoh T., Kata S.R., Mishina Y., Womack J.E., Moritomo Y., Sugimoto Y., Kunieda T.
Proc. Natl. Acad. Sci. U.S.A. 99:10549-10554(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Kidney.
[2]"Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome."
Ruiz-Perez V.L., Tompson S.W.J., Blair H.J., Espinoza-Valdez C., Lapunzina P., Silva E.O., Hamel B.C.J., Gibbs J.L., Young I.D., Wright M.J., Goodship J.A.
Am. J. Hum. Genet. 72:728-732(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT EVC ARG-283.
[3]"A new gene, EVC2, is mutated in Ellis-van Creveld syndrome."
Galdzicka M., Patnala S., Hirshman M.G., Cai J.-F., Nitowsky H., Egeland J.A., Ginns E.I.
Mol. Genet. Metab. 77:291-295(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 75-1308 (ISOFORMS 1 AND 3), TISSUE SPECIFICITY, VARIANT EVC TRP-950.
[4]"A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis."
Ye X., Song G., Fan M., Shi L., Jabs E.W., Huang S., Guo R., Bian Z.
Hum. Genet. 119:199-205(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN WEYERS ACROFACIAL DYSOSTOSIS.
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-630 AND VAL-994.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB083067 mRNA. Translation: BAC06590.1.
AY185210 mRNA. Translation: AAO22066.1.
AY152402 mRNA. Translation: AAN86577.1. Different initiation.
AY152403 mRNA. Translation: AAN86578.1. Different initiation.
RefSeqNP_001159608.1. NM_001166136.1.
NP_667338.3. NM_147127.4.
UniGeneHs.87306.

3D structure databases

ProteinModelPortalQ86UK5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid126340. 2 interactions.
IntActQ86UK5. 1 interaction.
MINTMINT-1179887.
STRING9606.ENSP00000342144.

PTM databases

PhosphoSiteQ86UK5.

Polymorphism databases

DMDM38257827.

Proteomic databases

PaxDbQ86UK5.
PRIDEQ86UK5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310917; ENSP00000311683; ENSG00000173040. [Q86UK5-2]
ENST00000344408; ENSP00000342144; ENSG00000173040. [Q86UK5-1]
ENST00000344938; ENSP00000339954; ENSG00000173040. [Q86UK5-3]
ENST00000475313; ENSP00000431981; ENSG00000173040.
GeneID132884.
KEGGhsa:132884.
UCSCuc003gij.3. human. [Q86UK5-1]

Organism-specific databases

CTD132884.
GeneCardsGC04M005609.
HGNCHGNC:19747. EVC2.
HPAHPA040910.
HPA048122.
MIM193530. phenotype.
225500. phenotype.
607261. gene.
neXtProtNX_Q86UK5.
Orphanet952. Acrofacial dysostosis, Weyers type.
289. Ellis Van Creveld syndrome.
PharmGKBPA134989044.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41509.
HOGENOMHOG000113288.
HOVERGENHBG045574.
InParanoidQ86UK5.
OMATQILESH.
OrthoDBEOG7WMCHR.
PhylomeDBQ86UK5.
TreeFamTF331379.

Gene expression databases

ArrayExpressQ86UK5.
BgeeQ86UK5.
CleanExHS_EVC2.
GenevestigatorQ86UK5.

Family and domain databases

InterProIPR022076. Limbin.
IPR026501. Limbin/Ellis-van_Creveld.
[Graphical view]
PANTHERPTHR16795. PTHR16795. 1 hit.
PTHR16795:SF7. PTHR16795:SF7. 1 hit.
PfamPF12297. EVC2_like. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi132884.
NextBio83156.
PROQ86UK5.
SOURCESearch...

Entry information

Entry nameLBN_HUMAN
AccessionPrimary (citable) accession number: Q86UK5
Secondary accession number(s): Q86YT3, Q86YT4, Q8NG49
Entry history
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: June 1, 2003
Last modified: April 16, 2014
This is version 90 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM