Full Product Name
Goat Polyclonal to Human EVC2
Product Synonym Names
Anti-EVC2 Antibody (C-Terminus) IHC-plus; EVC2; Ellis van Creveld syndrome 2; LBN; Limbin; Human EVC2
Product Gene Name
anti-EVC2 antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q86UK5
Species Reactivity
Gorilla, Human
Predicted Reactivity: Gibbon, Monkey (at least 90% immunogen sequence identity)
Specificity
Human EVC2. This antibody is expected to recognise isoform 1 (NP_667338.3) and isoform 2 (NP_001159608.1).
Purity/Purification
Immunoaffinity Purified
Form/Format
Tris-buffered saline, pH 7.3, 0.5% BSA, 0.02% sodium azide
Concentration
0.5 mg/ml (lot specific)
Immunogen Description
Synthetic peptide C-LNAKKAMRALGMD from the C-terminus of human EVC2 (NP_667338.3; NP_001159608.1). Percent identity by BLAST analysis: Human, Gorilla (100%); Gibbon, Monkey (92%); Mouse, Hamster, Panda (85%).
Immunogen Type
Synthetic peptide
Immunogen
EVC2 antibody was raised against synthetic peptide C-LNAKKAMRALGMD from the C-terminus of human EVC2 (NP_667338.3; NP_001159608.1). Percent identity by BLAST analysis: Human, Gorilla (100%); Gibbon, Monkey (92%); Mouse, Hamster, Panda (85%).
Antigen Modification
C-Terminus
Preparation and Storage
Store at -20 degree C. Minimize freezing and thawing.
Other Notes
Small volumes of anti-EVC2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Applications Tested/Suitable for anti-EVC2 antibody
Immunohistochemistry (IHC - Paraffin), ELISA (EIA)
Application Notes for anti-EVC2 antibody
ELISA (1:16000), IHC-P (3.75 ug/ml)
Immunohistochemistry (IHC) of anti-EVC2 antibody
Anti-EVC2 antibody IHC of human testis. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody concentration 3.75 ug/ml.
Immunohistochemistry (IHC) of anti-EVC2 antibody
Anti-EVC2 antibody IHC of human placenta. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval. Antibody concentration 3.75 ug/ml.
NCBI/Uniprot data below describe general gene information for EVC2. It may not necessarily be applicable to this product.
NCBI Accession #
NP_667338.3
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NCBI GenBank Nucleotide #
NM_147127.4
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UniProt Primary Accession #
Q86UK5
[Other Products]
UniProt Secondary Accession #
Q86YT3; Q86YT4; Q8NG49[Other Products]
UniProt Related Accession #
Q86UK5[Other Products]
Molecular Weight
141,159 Da
NCBI Official Full Name
limbin isoform 1
NCBI Official Synonym Full Names
Ellis van Creveld syndrome 2
NCBI Official Symbol
EVC2??[Similar Products]
NCBI Official Synonym Symbols
LBN
??[Similar Products]
NCBI Protein Information
limbin; ellis-van Creveld syndrome protein 2
UniProt Protein Name
Limbin
UniProt Synonym Protein Names
Ellis-van Creveld syndrome protein 2; EVC2
UniProt Gene Name
EVC2??[Similar Products]
UniProt Synonym Gene Names
LBN; EVC2??[Similar Products]
UniProt Entry Name
LBN_HUMAN
NCBI Summary for EVC2
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]
UniProt Comments for EVC2
EVC2: Positive regulator of the hedgehog signaling pathway. Plays a critical role in bone formation and skeletal development. Defects in EVC2 are a cause of Ellis-van Creveld syndrome (EVC); also known as chondroectodermal dysplasia. EVC is an autosomal recessive disorder 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. Defects in EVC2 are a cause of acrofacial dysostosis Weyers type (WAD); also known as Curry-Hall syndrome. Acrofacial dysostoses are a heterogeneous group of disorders combining limb defects with facial abnormalities. WAD is an autosomal dominant disorder characterized by dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs and short stature. The phenotype is milder than Ellis-van Creveld syndrome. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Membrane protein, integral
Chromosomal Location of Human Ortholog: 4p16.2
Cellular Component: cytoskeleton; cytoplasm; integral to membrane; nucleus; cilium
Biological Process: smoothened signaling pathway
Disease: Weyers Acrofacial Dysostosis; Ellis-van Creveld Syndrome
Research Articles on EVC2
1. Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS disease genes-C5orf42, EVC2 and SEC8 (also known as EXOC4), which encodes an exocyst protein with an established role in ciliogenesis
Precautions
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