Mouse Anti-HECW2 (AA 637-746) Recombinant Antibody (CBFYH-0919) (CBMAB-H1852-FY)

Name: Mouse Anti-HECW2 (AA 637-746) Recombinant Antibody (CBFYH-0919)
SKU: CBMAB-H1852-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYH-0919

Application

ELISA, WB

Immunogen

Recombinant protein with GST tag

Specificity

Human

Antibody Isotype

IgG2b, κ

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Epitope

AA 637-746

More Infomation

Target

Full Name

HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 2

Introduction

This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants.

Entrez Gene ID

57520

UniProt ID

Q9P2P5

Alternative Names

HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 2; HECT-Type E3 Ubiquitin Transferase HECW2; NEDD4-Like E3 Ubiquitin-Protein Ligase 2; NEDL2; HECT, C2 And WW Domain-Containing Protein 2; NEDD4-Related E3 Ubiquitin Ligase NEDL2

Function

E3 ubiquitin-protein ligase that mediates ubiquitination of TP73. Acts to stabilize TP73 and enhance activation of transcription by TP73 (PubMed:12890487).

Involved in the regulation of mitotic metaphase/anaphase transition (PubMed:24163370).

Biological Process

Negative regulation of sodium ion transmembrane transporter activity Source: GO_Central
Positive regulation of protein catabolic process Source: GO_Central
Proteasome-mediated ubiquitin-dependent protein catabolic process Source: GO_Central
Protein polyubiquitination Source: GO_Central
Protein ubiquitination Source: GO_Central
Regulation of dendrite morphogenesis Source: GO_Central
Regulation of mitotic metaphase/anaphase transition Source: UniProtKB

Cellular Location

Spindle; Cytoplasm

Involvement in disease

Neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL):
A neurodevelopmental disorder characterized by severely delayed psychomotor development, absent speech, epilepsy, encephalopathy, hypotonia, dystonia/dyskinesia, and macrocephaly. Brain imaging show cerebral atrophy, enlarged ventricles, and white matter abnormalities.

PTM

Ubiquitinated and degraded during mitotic exit by APC/C-Cdh1.

Acharya, A., Kavus, H., Dunn, P., Nasir, A., Folk, L., Withrow, K., ... & Schrauwen, I. (2022). Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders. Journal of medical genetics, 59(7), 669-677.

Krami, A. M., Bouzidi, A., Charif, M., Amalou, G., Charoute, H., Rouba, H., ... & Nahili, H. (2022). A homozygous nonsense HECW2 variant is associated with neurodevelopmental delay and intellectual disability. European Journal of Medical Genetics, 65(6), 104515.

Lu, Q., Zhang, M. N., Shi, X. Y., Zhang, L. Q., Wang, Y. Y., Liu, L. Y., ... & Zou, L. P. (2021). Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a. American Journal of Medical Genetics Part A, 185(2), 377-383.

Yanagishita, T., Hirade, T., Shimojima Yamamoto, K., Funatsuka, M., Miyamoto, Y., Maeda, M., ... & Yamamoto, T. (2021). HECW2‐related disorder in four Japanese patients. American Journal of Medical Genetics Part A, 185(10), 2895-2902.

Heide, E. C., Puk, O., Biskup, S., Krahn, A., Rauf, E., Kreilkamp, B. A., ... & Focke, N. K. (2021). A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns. American Journal of Medical Genetics Part A, 185(12), 3838-3843.

Krishnamoorthy, V., Khanna, R., & Parnaik, V. K. (2018). E3 ubiquitin ligase HECW2 mediates the proteasomal degradation of HP1 isoforms. Biochemical and biophysical research communications, 503(4), 2478-2484.

Nakamura, H., Uematsu, M., Numata-Uematsu, Y., Abe, Y., Endo, W., Kikuchi, A., ... & Kure, S. (2018). Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation. Brain and Development, 40(5), 410-414.

Krishnamoorthy, V., Khanna, R., & Parnaik, V. K. (2018). E3 ubiquitin ligase HECW2 targets PCNA and lamin B1. Biochimica et Biophysica Acta (BBA)-Molecular Cell Research, 1865(8), 1088-1104.

Yang, L., Han, B., Zhang, Y., Bai, Y., Chao, J., Hu, G., & Yao, H. (2018). Engagement of circular RNA HECW2 in the nonautophagic role of ATG5 implicated in the endothelial-mesenchymal transition. Autophagy, 14(3), 404-418.

Ullman, N. L., Smith-Hicks, C. L., Desai, S., & Stafstrom, C. E. (2018). De novo HECW2 mutation associated with epilepsy, developmental decline, and intellectual disability: case report and review of literature. Pediatric neurology, 85, 76-78.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

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For research use only. Not intended for any clinical use.

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