Antibody Name:	EVC2 Antibody (PACO19629)
Antibody SKU:	PACO19629
Size:	50ul
Host Species:	Rabbit
Tested Applications:	ELISA, WB, IHC
Recommended Dilutions:	ELISA:1:1000-1:2000, WB:1:200-1:1000, IHC:1:50-1:200
Species Reactivity:	Human
Immunogen:	Synthetic peptide of human EVC2

Form:	Liquid
Storage Buffer:	-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Purification Method:	Antigen affinity purification
Clonality:	Polyclonal
Isotype:	IgG
Conjugate:	Non-conjugated

	The image on the left is immunohistochemistry of paraffin-embedded Human ovarian cancer tissue using PACO19629(EVC2 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: x200).
	Gel: 6%SDS-PAGE, Lysate: 40 μg, Lane: Human placenta tissue, Primary antibody: PACO19629(EVC2 Antibody) at dilution 1/450, Secondary antibody: Goat anti rabbit IgG at 1/8000 dilution, Exposure time: 7 minutes.
	The image on the left is immunohistochemistry of paraffin-embedded Human colon cancer tissue using PACO19629(EVC2 Antibody) at dilution 1/40, on the right is treated with synthetic peptide. (Original magnification: x200).

Background:

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.

Synonyms:

Ellis van Creveld syndrome 2

UniProt Protein Function:	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, integralChromosomal Location of Human Ortholog: 4p16.2Cellular Component: cytoskeleton; cytoplasm; integral to membrane; nucleus; ciliumBiological Process: smoothened signaling pathwayDisease: Weyers Acrofacial Dysostosis; Ellis-van Creveld Syndrome
UniProt Protein Details:
NCBI Summary:	This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]
UniProt Code:	Q86UK5
NCBI GenInfo Identifier:	23510348
NCBI Gene ID:	51567
NCBI Accession:	NP_057698
UniProt Secondary Accession:	Q86UK5,Q2TBE2, Q5JYM0, Q7Z6U5, Q9NUK5, Q9NYY9, B4DKL8 B4DQ95
UniProt Related Accession:	Q86UK5,O95551
Molecular Weight:	43.3 kDa (385aa) confirmed by MALDI-TOF
NCBI Full Name:	tyrosyl-DNA phosphodiesterase 2
NCBI Synonym Full Names:	tyrosyl-DNA phosphodiesterase 2
NCBI Official Symbol:	TDP2
NCBI Official Synonym Symbols:	EAP2; AD022; EAPII; TTRAP; hTDP2; dJ30M3.3
NCBI Protein Information:	tyrosyl-DNA phosphodiesterase 2
UniProt Protein Name:	Limbin
UniProt Synonym Protein Names:	Ellis-van Creveld syndrome protein 2; EVC2
Protein Family:	Limbin
UniProt Gene Name:	EVC2
UniProt Entry Name:	LBN_HUMAN