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Aliases for EVC2 Gene

Aliases for EVC2 Gene

  • Ellis Van Creveld Syndrome 2 2 3
  • Ellis-Van Creveld Syndrome Protein 2 3 4
  • LBN 3 4
  • Limbin 3
  • LBN, 6

External Ids for EVC2 Gene

Previous GeneCards Identifiers for EVC2 Gene

  • GC04M005537
  • GC04M005628
  • GC04M005662

Summaries for EVC2 Gene

Entrez Gene Summary for EVC2 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]

GeneCards Summary for EVC2 Gene

EVC2 (Ellis Van Creveld Syndrome 2) is a Protein Coding gene. Diseases associated with EVC2 include ellis-van creveld syndrome and evc2-related ellis-van creveld syndrome.

UniProtKB/Swiss-Prot for EVC2 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EVC2 Gene

Genomics for EVC2 Gene

Regulatory Elements for EVC2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EVC2 Gene

Start:
5,542,772 bp from pter
End:
5,709,548 bp from pter
Size:
166,777 bases
Orientation:
Minus strand

Genomic View for EVC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EVC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EVC2 Gene

Proteins for EVC2 Gene

  • Protein details for EVC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UK5-LBN_HUMAN
    Recommended name:
    Limbin
    Protein Accession:
    Q86UK5
    Secondary Accessions:
    • Q86YT3
    • Q86YT4
    • Q8NG49

    Protein attributes for EVC2 Gene

    Size:
    1308 amino acids
    Molecular mass:
    147948 Da
    Quaternary structure:
    • Interacts with EVC.
    SequenceCaution:
    • Sequence=AAN86577.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAN86578.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EVC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EVC2 Gene

Proteomics data for EVC2 Gene at MOPED

Post-translational modifications for EVC2 Gene

  • Glycosylation at Asn220
  • Modification sites at PhosphoSitePlus

Other Protein References for EVC2 Gene

No data available for DME Specific Peptides for EVC2 Gene

Domains for EVC2 Gene

Protein Domains for EVC2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EVC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EVC2: view

No data available for Gene Families and UniProtKB/Swiss-Prot for EVC2 Gene

Function for EVC2 Gene

Molecular function for EVC2 Gene

UniProtKB/Swiss-Prot Function: Positive regulator of the hedgehog signaling pathway (By similarity). Plays a critical role in bone formation and skeletal development.

Gene Ontology (GO) - Molecular Function for EVC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with EVC2: view
genes like me logo Genes that share phenotypes with EVC2: view

Animal Models for EVC2 Gene

MGI Knock Outs for EVC2:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for EVC2 Gene

Localization for EVC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EVC2 Gene

Cell membrane; Single-pass type I membrane protein. Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Cell projection, cilium membrane. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EVC2 Gene COMPARTMENTS Subcellular localization image for EVC2 gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytoskeleton 2
endoplasmic reticulum 2
cytosol 1
extracellular 1
golgi apparatus 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EVC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane --
GO:0005929 cilium ISS --
genes like me logo Genes that share ontologies with EVC2: view

Pathways for EVC2 Gene

SuperPathways for EVC2 Gene

No Data Available

Interacting Proteins for EVC2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000342144%0d%0a9606.ENSP00000310275%0d%0a
Selected Interacting proteins: Q86UK5-LBN_HUMAN ENSP00000342144 for EVC2 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for EVC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007224 smoothened signaling pathway ISS --
genes like me logo Genes that share ontologies with EVC2: view

No data available for Pathways by source for EVC2 Gene

Transcripts for EVC2 Gene

Unigene Clusters for EVC2 Gene

Ellis van Creveld syndrome 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EVC2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for EVC2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EVC2 Gene

No ASD Table

Relevant External Links for EVC2 Gene

GeneLoc Exon Structure for
EVC2
ECgene alternative splicing isoforms for
EVC2

Expression for EVC2 Gene

mRNA expression in normal human tissues for EVC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for EVC2 Gene

SOURCE GeneReport for Unigene cluster for EVC2 Gene Hs.87306

mRNA Expression by UniProt/SwissProt for EVC2 Gene

Q86UK5-LBN_HUMAN
Tissue specificity: Found in the heart, placenta, lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expressions with EVC2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EVC2 Gene

Orthologs for EVC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EVC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EVC2 35
  • 98.67 (n)
  • 98.32 (a)
EVC2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EVC2 35
  • 83.97 (n)
  • 80.18 (a)
EVC2 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EVC2 35
  • 83.05 (n)
  • 78.95 (a)
EVC2 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Evc2 35
  • 76.67 (n)
  • 72.56 (a)
Evc2 16
Evc2 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EVC2 36
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 57 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Evc2 35
  • 77.55 (n)
  • 73.51 (a)
chicken
(Gallus gallus)
Aves EVC2 35
  • 57.64 (n)
  • 48.47 (a)
EVC2 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia evc2 35
  • 52.58 (n)
  • 38.27 (a)
Species with no ortholog for EVC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EVC2 Gene

ENSEMBL:
Gene Tree for EVC2 (if available)
TreeFam:
Gene Tree for EVC2 (if available)

Paralogs for EVC2 Gene

No data available for Paralogs for EVC2 Gene

Variants for EVC2 Gene

Sequence variations from dbSNP and Humsavar for EVC2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs730469 - 5,622,943(+) AACCG(C/T)TCGGA reference, missense
rs747971 -- 5,639,780(+) TATGA(A/G)TGAAG intron-variant
rs747972 -- 5,640,004(+) tTCtg(C/G)atgga intron-variant
rs749086 -- 5,592,474(-) ATTTG(G/T)CGGGG intron-variant
rs749087 -- 5,592,238(-) TATCT(C/G)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EVC2 Gene

Variant ID Type Subtype PubMed ID
esv34196 OTHER Inversion 12058347
nsv878518 CNV Gain 21882294
nsv4207 CNV Insertion 18451855
esv2422511 CNV Deletion 17116639
esv29396 CNV Loss 19812545
esv1000819 CNV Deletion 20482838
nsv523706 CNV Loss 19592680
nsv508993 CNV Insertion 20534489

Relevant External Links for EVC2 Gene

HapMap Linkage Disequilibrium report
EVC2
Human Gene Mutation Database (HGMD)
EVC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EVC2 Gene

Disorders for EVC2 Gene

(1) OMIM Diseases for EVC2 Gene (607261)

UniProtKB/Swiss-Prot

LBN_HUMAN
  • 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. {ECO:0000269 PubMed:12468274, ECO:0000269 PubMed:12571802}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(4) Novoseek inferred disease relationships for EVC2 Gene

Disease -log(P) Hits PubMed IDs
ellis-van creveld syndrome 98.2 5
polydactyly, postaxial 91.7 1
ectodermal dysplasia 79.1 1
heart defects congenital 54.8 1

Relevant External Links for EVC2

Genetic Association Database (GAD)
EVC2
Human Genome Epidemiology (HuGE) Navigator
EVC2
genes like me logo Genes that share disorders with EVC2: view

Publications for EVC2 Gene

  1. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. (PMID: 12468274) Galdzicka M. … Ginns E.I. (Mol. Genet. Metab. 2002) 3 4 23
  2. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. (PMID: 16404586) Ye X. … Bian Z. (Hum. Genet. 2006) 3 4 23
  3. Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism. (PMID: 12136126) Takeda H. … Kunieda T. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4
  4. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. (PMID: 12571802) Ruiz-Perez V.L. … Goodship J.A. (Am. J. Hum. Genet. 2003) 2 3 4
  5. Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates. (PMID: 20184732) Ali B.R. … Al-Gazali L. (BMC Med. Genet. 2010) 3 23

Products for EVC2 Gene

Sources for EVC2 Gene

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