Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EVC2 Gene

Aliases for EVC2 Gene

  • EvC Ciliary Complex Subunit 2 2 3 5
  • Ellis-Van Creveld Syndrome Protein 2 3 4
  • Ellis Van Creveld Syndrome 2 2 3
  • Limbin 2 3
  • LBN 3 4
  • WAD 3

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 (EvC Ciliary Complex Subunit 2) is a Protein Coding gene. Diseases associated with EVC2 include Ellis-Van Creveld Syndrome and Weyers Acrofacial Dysostosis. Among its related pathways are Signaling by Hedgehog and Hedgehog Pathway.

UniProtKB/Swiss-Prot for EVC2 Gene

  • 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.

Additional gene information for EVC2 Gene

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

Genomics for EVC2 Gene

GeneHancer (GH) Regulatory Elements for EVC2 Gene

Promoters and enhancers for EVC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J005707 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 658.2 -0.9 -934 6 FOXA2 ARNT ARID4B SIN3A STAT5A BATF ZNF48 ZNF335 GLIS2 SCRT2 EVC EVC2 PIR37444 RN7SKP275 GC04P005689
GH04J005365 Enhancer 1 Ensembl ENCODE 21.4 +343.4 343365 2.3 NCOA3 PKNOX1 CLOCK ESRRA JUN NEUROD1 SIN3A EBF1 CTBP1 GATA3 EVC2 EVC ENSG00000252266 GC04M005426 GC04P005298 STK32B
GH04J006687 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 9.8 -983.2 -983165 9.9 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B S100P LINC002481 ENSG00000279859 BLOC1S4 LOC93622 EVC2 LINC02482 GC04P006638 GC04P006634 GC04P006621
GH04J005635 Enhancer 0.9 FANTOM5 ENCODE 11 +71.6 71585 5.5 JUNB TRIM22 YBX1 ZIC2 ZFHX2 NFIC ZNF366 EGR1 POLR2A GLIS1 EVC EVC2 GC04P005631 GC04P005643
GH04J005745 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 5.1 -44.0 -43989 15.4 SIN3A BATF FOS ETV6 RUNX3 CREM USF2 JUNB SP1 GLIS1 EVC CRMP1 EVC2 PIR43243 GC04P005776
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EVC2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EVC2 gene promoter:

Genomic Locations for EVC2 Gene

Genomic Locations for EVC2 Gene
chr4:5,534,397-5,709,548
(GRCh38/hg38)
Size:
175,152 bases
Orientation:
Minus strand
chr4:5,544,499-5,711,275
(GRCh37/hg19)

Genomic View for EVC2 Gene

Genes around EVC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EVC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • 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.
    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

Post-translational modifications for EVC2 Gene

  • Glycosylation at Asn220
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EVC2 Gene

Domains & Families for EVC2 Gene

Gene Families for EVC2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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 UniProtKB/Swiss-Prot for EVC2 Gene

Function for EVC2 Gene

Molecular function for EVC2 Gene

UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for EVC2 Gene

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

Human Phenotype Ontology for EVC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EVC2 Gene

MGI Knock Outs for EVC2:
  • Evc2 Evc2<tm1.1Vlrp>
  • Evc2 Evc2<tm1.1Mis>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EVC2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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. Note=The EvC complex localizes at the base of cilia in the EvC zone of primary cilia in a EFCAB7-dependent manner. {ECO:0000250 UniProtKB:Q8K1G2}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EVC2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytoskeleton 3
mitochondrion 2
endoplasmic reticulum 2
extracellular 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IEA --
GO:0005929 cilium ISS --
genes like me logo Genes that share ontologies with EVC2: view

Pathways & Interactions for EVC2 Gene

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

Pathways by source for EVC2 Gene

1 KEGG pathway for EVC2 Gene

Interacting Proteins for EVC2 Gene

Gene Ontology (GO) - Biological Process for EVC2 Gene

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

No data available for SIGNOR curated interactions for EVC2 Gene

Drugs & Compounds for EVC2 Gene

No Compound Related Data Available

Transcripts for EVC2 Gene

Unigene Clusters for EVC2 Gene

Ellis van Creveld syndrome 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EVC2

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for EVC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EVC2 Gene

This gene is overexpressed in Liver (60.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EVC2 Gene



Protein tissue co-expression partners for EVC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of EVC2 Gene:

EVC2

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.

Evidence on tissue expression from TISSUES for EVC2 Gene

  • Kidney(4.3)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EVC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • biliary tract
  • liver
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
genes like me logo Genes that share expression patterns with EVC2: view

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 34 33
  • 98.67 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EVC2 34 33
  • 83.97 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EVC2 34 33
  • 83.05 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Evc2 33
  • 77.55 (n)
mouse
(Mus musculus)
Mammalia Evc2 16 34 33
  • 76.67 (n)
oppossum
(Monodelphis domestica)
Mammalia EVC2 34
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 57 (a)
OneToMany
-- 34
  • 52 (a)
OneToMany
chicken
(Gallus gallus)
Aves EVC2 34 33
  • 57.64 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia evc2 33
  • 52.58 (n)
Species where no ortholog for EVC2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EVC2: view image

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 Variation AA Info Type
rs112554914 likely-benign, benign, Ellis-van Creveld Syndrome, not specified 5,576,259(-) G/A coding_sequence_variant, intron_variant, synonymous_variant
rs112747818 uncertain-significance, likely-benign, Ellis-van Creveld Syndrome, not specified 5,628,600(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs113806963 uncertain-significance, not specified, Ellis-van Creveld Syndrome 5,685,483(-) C/A/T intron_variant
rs113869406 uncertain-significance, likely-benign, Ellis-van Creveld Syndrome, not provided 5,628,715(-) A/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs114024753 likely-benign, benign, Ellis-van Creveld Syndrome, not specified, Chondroectodermal dysplasia, Curry-Hall syndrome 5,689,171(-) T/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv1000819 CNV deletion 20482838
esv2422511 CNV deletion 17116639
esv29396 CNV loss 19812545
esv3369049 CNV duplication 20981092
esv3411988 CNV insertion 20981092
esv34196 OTHER inversion 12058347
esv3599488 CNV loss 21293372
esv3599490 CNV loss 21293372
nsv1012934 CNV gain 25217958
nsv1128029 CNV deletion 24896259
nsv1152933 CNV deletion 26484159
nsv4207 CNV insertion 18451855
nsv508993 CNV insertion 20534489
nsv523706 CNV loss 19592680
nsv593480 CNV loss 21841781
nsv593482 CNV loss 21841781
nsv954418 CNV insertion 24416366

Variation tolerance for EVC2 Gene

Residual Variation Intolerance Score: 96.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.17; 90.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EVC2 Gene

Human Gene Mutation Database (HGMD)
EVC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EVC2

SNP Genotyping and Copy Number Assay Products

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

Disorders for EVC2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for EVC2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EVC2 in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:16404586}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EVC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EVC2: view

No data available for Genatlas for EVC2 Gene

Publications for EVC2 Gene

  1. A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. (PMID: 16404586) Ye X … Bian Z (Human genetics 2006) 3 4 22 58
  2. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. (PMID: 12571802) Ruiz-Perez VL … Goodship JA (American journal of human genetics 2003) 2 3 4 58
  3. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. (PMID: 12468274) Galdzicka M … Ginns EI (Molecular genetics and metabolism 2002) 3 4 22 58
  4. Positional cloning of the gene LIMBIN responsible for bovine chondrodysplastic dwarfism. (PMID: 12136126) Takeda H … Kunieda T (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 4 58
  5. EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia. (PMID: 24582806) Pusapati GV … Rohatgi R (Developmental cell 2014) 2 3 58

Products for EVC2 Gene

Sources for EVC2 Gene

Content
Loading form....