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Q86UK5

- LBN_HUMAN

UniProt

Q86UK5 - LBN_HUMAN

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Protein

Limbin

Gene

EVC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

  1. smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:19747. EVC2.

Subcellular locationi

Cell membrane By similarity; 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

GO - Cellular componenti

  1. cilium Source: UniProtKB
  2. cytoplasm Source: UniProtKB-KW
  3. cytoskeleton Source: UniProtKB-KW
  4. integral component of membrane Source: UniProtKB-KW
  5. nucleus Source: UniProtKB
  6. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

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

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti283 – 2831I → R in EVC. 1 Publication
VAR_017209
Natural varianti950 – 9501R → W in EVC. 1 Publication
VAR_017211
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.

Keywords - Diseasei

Ciliopathy, Disease mutation, Dwarfism, Ectodermal dysplasia

Organism-specific databases

MIMi193530. phenotype.
225500. phenotype.
Orphaneti952. Acrofacial dysostosis, Weyers type.
289. Ellis Van Creveld syndrome.
PharmGKBiPA134989044.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2626Sequence AnalysisAdd
BLAST
Chaini27 – 13081282LimbinPRO_0000084363Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi220 – 2201N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ86UK5.
PRIDEiQ86UK5.

PTM databases

PhosphoSiteiQ86UK5.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ86UK5.
CleanExiHS_EVC2.
ExpressionAtlasiQ86UK5. baseline and differential.
GenevestigatoriQ86UK5.

Organism-specific databases

HPAiHPA040910.
HPA048122.

Interactioni

Subunit structurei

Interacts with EVC.By similarity

Protein-protein interaction databases

BioGridi126340. 2 interactions.
IntActiQ86UK5. 1 interaction.
MINTiMINT-1179887.
STRINGi9606.ENSP00000342144.

Structurei

3D structure databases

ProteinModelPortaliQ86UK5.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini27 – 300274ExtracellularSequence AnalysisAdd
BLAST
Topological domaini322 – 1308987CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei301 – 32121HelicalSequence AnalysisAdd
BLAST

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili455 – 578124Sequence AnalysisAdd
BLAST
Coiled coili636 – 800165Sequence AnalysisAdd
BLAST
Coiled coili1001 – 1113113Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG41509.
GeneTreeiENSGT00390000014437.
HOGENOMiHOG000113288.
HOVERGENiHBG045574.
InParanoidiQ86UK5.
OMAiTQILESH.
OrthoDBiEOG7WMCHR.
PhylomeDBiQ86UK5.
TreeFamiTF331379.

Family and domain databases

InterProiIPR022076. Limbin.
IPR026501. Limbin/Ellis-van_Creveld.
[Graphical view]
PANTHERiPTHR16795. PTHR16795. 1 hit.
PfamiPF12297. EVC2_like. 1 hit.
[Graphical view]

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. Align

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q86UK5) [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 AAN86577.1 differs from that shown. Reason: Erroneous initiation.
The sequence AAN86578.1 differs from that shown. Reason: Erroneous initiation.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1106 – 11061L → W in AAN86577. (PubMed:12468274)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti230 – 2301S → G.
Corresponds to variant rs4689278 [ dbSNP | Ensembl ].
VAR_051089
Natural varianti283 – 2831I → R in EVC. 1 Publication
VAR_017209
Natural varianti630 – 6301A → S in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035933
Natural varianti699 – 6991T → A.
Corresponds to variant rs730469 [ dbSNP | Ensembl ].
VAR_017210
Natural varianti950 – 9501R → W in EVC. 1 Publication
VAR_017211
Natural varianti994 – 9941L → V in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035934

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8080Missing in isoform 2. 1 PublicationVSP_008848Add
BLAST
Alternative sequencei1220 – 130889SILKK…ALGMD → RSGNQESFWQYLVGTPEIGL IEWMSEK in isoform 3. 1 PublicationVSP_008849Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_006713923.1. XM_006713860.1. [Q86UK5-2]
UniGeneiHs.87306.

Genome annotation databases

EnsembliENST00000310917; ENSP00000311683; ENSG00000173040. [Q86UK5-2]
ENST00000344408; ENSP00000342144; ENSG00000173040. [Q86UK5-1]
ENST00000475313; ENSP00000431981; ENSG00000173040.
GeneIDi132884.
KEGGihsa:132884.
UCSCiuc003gij.3. human. [Q86UK5-1]

Polymorphism databases

DMDMi38257827.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS3382.2. [Q86UK5-1 ]
CCDS54718.1. [Q86UK5-2 ]
RefSeqi NP_001159608.1. NM_001166136.1. [Q86UK5-2 ]
NP_667338.3. NM_147127.4. [Q86UK5-1 ]
XP_006713923.1. XM_006713860.1. [Q86UK5-2 ]
UniGenei Hs.87306.

3D structure databases

ProteinModelPortali Q86UK5.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 126340. 2 interactions.
IntActi Q86UK5. 1 interaction.
MINTi MINT-1179887.
STRINGi 9606.ENSP00000342144.

PTM databases

PhosphoSitei Q86UK5.

Polymorphism databases

DMDMi 38257827.

Proteomic databases

PaxDbi Q86UK5.
PRIDEi Q86UK5.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310917 ; ENSP00000311683 ; ENSG00000173040 . [Q86UK5-2 ]
ENST00000344408 ; ENSP00000342144 ; ENSG00000173040 . [Q86UK5-1 ]
ENST00000475313 ; ENSP00000431981 ; ENSG00000173040 .
GeneIDi 132884.
KEGGi hsa:132884.
UCSCi uc003gij.3. human. [Q86UK5-1 ]

Organism-specific databases

CTDi 132884.
GeneCardsi GC04M005609.
HGNCi HGNC:19747. EVC2.
HPAi HPA040910.
HPA048122.
MIMi 193530. phenotype.
225500. phenotype.
607261. gene.
neXtProti NX_Q86UK5.
Orphaneti 952. Acrofacial dysostosis, Weyers type.
289. Ellis Van Creveld syndrome.
PharmGKBi PA134989044.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41509.
GeneTreei ENSGT00390000014437.
HOGENOMi HOG000113288.
HOVERGENi HBG045574.
InParanoidi Q86UK5.
OMAi TQILESH.
OrthoDBi EOG7WMCHR.
PhylomeDBi Q86UK5.
TreeFami TF331379.

Miscellaneous databases

GenomeRNAii 132884.
NextBioi 83156.
PROi Q86UK5.
SOURCEi Search...

Gene expression databases

Bgeei Q86UK5.
CleanExi HS_EVC2.
ExpressionAtlasi Q86UK5. baseline and differential.
Genevestigatori Q86UK5.

Family and domain databases

InterProi IPR022076. Limbin.
IPR026501. Limbin/Ellis-van_Creveld.
[Graphical view ]
PANTHERi PTHR16795. PTHR16795. 1 hit.
Pfami PF12297. EVC2_like. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. 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. 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. Cited for: VARIANTS [LARGE SCALE ANALYSIS] SER-630 AND VAL-994.

Entry informationi

Entry nameiLBN_HUMAN
AccessioniPrimary (citable) accession number: Q86UK5
Secondary accession number(s): Q86YT3, Q86YT4, Q8NG49
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: June 1, 2003
Last modified: October 29, 2014
This is version 95 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3