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Entry version 136 (17 Jun 2020)
Sequence version 1 (01 Jun 2003)
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Protein

Limbin

Gene

EVC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5635838 Activation of SMO

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Limbin
Alternative name(s):
Ellis-van Creveld syndrome protein 2
Short name:
EVC2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EVC2
Synonyms:LBN
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000173040.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19747 EVC2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607261 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q86UK5

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini27 – 300ExtracellularSequence analysisAdd BLAST274
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei301 – 321HelicalSequence analysisAdd BLAST21
Topological domaini322 – 1308CytoplasmicSequence analysisAdd BLAST987

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_017209283I → R in EVC. 1 PublicationCorresponds to variant dbSNP:rs137852926EnsemblClinVar.1
Natural variantiVAR_017211950R → W in EVC. 1 PublicationCorresponds to variant dbSNP:rs137852928EnsemblClinVar.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.
Related information in OMIM

Keywords - Diseasei

Ciliopathy, Disease mutation, Dwarfism, Ectodermal dysplasia

Organism-specific databases

DisGeNET

More...
DisGeNETi
132884

MalaCards human disease database

More...
MalaCardsi
EVC2
MIMi193530 phenotype
225500 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000173040

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
952 Acrofacial dysostosis, Weyers type
289 Ellis Van Creveld syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134989044

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q86UK5 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
EVC2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
38257827

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 26Sequence analysisAdd BLAST26
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000008436327 – 1308LimbinAdd BLAST1282

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi220N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q86UK5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q86UK5

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q86UK5

PeptideAtlas

More...
PeptideAtlasi
Q86UK5

PRoteomics IDEntifications database

More...
PRIDEi
Q86UK5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
69823 [Q86UK5-1]
69824 [Q86UK5-2]
69825 [Q86UK5-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q86UK5

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q86UK5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000173040 Expressed in endocervix and 127 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q86UK5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q86UK5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000173040 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
126340, 85 interactors

Protein interaction database and analysis system

More...
IntActi
Q86UK5, 84 interactors

Molecular INTeraction database

More...
MINTi
Q86UK5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000342144

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q86UK5 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q86UK5

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGSC Eukaryota
ENOG4111Y8B LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154127

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_007621_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q86UK5

KEGG Orthology (KO)

More...
KOi
K19608

Identification of Orthologs from Complete Genome Data

More...
OMAi
ENMETDT

Database of Orthologous Groups

More...
OrthoDBi
90381at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q86UK5

TreeFam database of animal gene trees

More...
TreeFami
TF331379

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR022076 Limbin
IPR026501 Limbin/Ellis-van_Creveld

The PANTHER Classification System

More...
PANTHERi
PTHR16795 PTHR16795, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12297 EVC2_like, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q86UK5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.Curated
Show »
Length:1,246
Mass (Da):141,159
Checksum:i02C628E8B2E15ED4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DGE7A0A0C4DGE7_HUMAN
Ellis van Creveld syndrome 2 (Limbi...
EVC2 hCG_1981074
1,166Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PFT2E9PFT2_HUMAN
Limbin
EVC2
452Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs137852926EnsemblClinVar.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:rs137852928EnsemblClinVar.1
Natural variantiVAR_035934994L → V in a colorectal cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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.

The Consensus CDS (CCDS) project

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CCDSi
CCDS3382.2 [Q86UK5-1]
CCDS54718.1 [Q86UK5-2]

NCBI Reference Sequences

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RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000310917; ENSP00000311683; ENSG00000173040 [Q86UK5-2]
ENST00000344408; ENSP00000342144; ENSG00000173040 [Q86UK5-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
132884

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:132884

UCSC genome browser

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UCSCi
uc003gij.4 human [Q86UK5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

SMRiQ86UK5
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126340, 85 interactors
IntActiQ86UK5, 84 interactors
MINTiQ86UK5
STRINGi9606.ENSP00000342144

PTM databases

iPTMnetiQ86UK5
PhosphoSitePlusiQ86UK5

Polymorphism and mutation databases

BioMutaiEVC2
DMDMi38257827

Proteomic databases

jPOSTiQ86UK5
MassIVEiQ86UK5
PaxDbiQ86UK5
PeptideAtlasiQ86UK5
PRIDEiQ86UK5
ProteomicsDBi69823 [Q86UK5-1]
69824 [Q86UK5-2]
69825 [Q86UK5-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
22606 121 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
132884
DisGeNETi132884
EuPathDBiHostDB:ENSG00000173040.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
EVC2
HGNCiHGNC:19747 EVC2
HPAiENSG00000173040 Low tissue specificity
MalaCardsiEVC2
MIMi193530 phenotype
225500 phenotype
607261 gene
neXtProtiNX_Q86UK5
OpenTargetsiENSG00000173040
Orphaneti952 Acrofacial dysostosis, Weyers type
289 Ellis Van Creveld syndrome
PharmGKBiPA134989044

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IGSC Eukaryota
ENOG4111Y8B LUCA
GeneTreeiENSGT00940000154127
HOGENOMiCLU_007621_0_0_1
InParanoidiQ86UK5
KOiK19608
OMAiENMETDT
OrthoDBi90381at2759
PhylomeDBiQ86UK5
TreeFamiTF331379

Enzyme and pathway databases

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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
132884 5 hits in 784 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
EVC2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
132884
PharosiQ86UK5 Tbio

Protein Ontology

More...
PROi
PR:Q86UK5
RNActiQ86UK5 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000173040 Expressed in endocervix and 127 other tissues
ExpressionAtlasiQ86UK5 baseline and differential
GenevisibleiQ86UK5 HS

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLBN_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86UK5
Secondary accession number(s): Q86YT3, Q86YT4, Q8NG49
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: June 1, 2003
Last modified: June 17, 2020
This is version 136 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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