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FLASH GENE

Symbol

HECW2

contributors: mct - updated : 18-11-2021

HGNC name	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
HGNC id	29853

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NDHSAL neurodevelopmental disorder with hypotonia, seizures, and absent language
Location	2q32.3      Physical location : 197.063.976 - 197.457.335
Synonym name	NEDD4-related E3 ubiquitin ligase NEDL2
Synonym symbol(s)	KIAA1301, NEDL2, DKFZp686M17164, NDHSAL
EC.number	6.3.2.-/ 2.3.2.26

DNA

TYPE	functioning gene
STRUCTURE	399.62 kb     29 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020760 29 - 12479 NP_065811 - 1572 - 2021 33205896 NM_001348768 29 - 12006 NP_001335697 - 1572 - 2021 33205896 NM_001304840 27 - 11826 NP_001291769 - 1216 - 2021 33205896

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       predominantly Digestive intestine large intestine colon     Homo sapiens Nervous brain       predominantly Reproductive female system ovary         male system testis       Respiratory lung       predominantly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one C2 domain at its NH(2)-terminus
	two WW domains
	one HECT domain at its COOH-terminus

conjugated

PhosphoP

HOMOLOGY

interspecies	homolog to murine Hecw2 (95.2pc)
	homolog to rattus Hecw2 (94.7pc)

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle

basic FUNCTION	involved in protein modification, ubiquitin cycle
	E3 ubiquitin-protein ligase that mediates ubiquitination of TP73, to stabilize TP73 and enhance activation of transcription by TP73
	is a positive regulator of GDNF/Ret signaling during enteric neurogenesis
	potential functional link between HECW2 dysfunction and brain development

CELLULAR PROCESS

protein, ubiquitin dependent proteolysis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with TP73

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NDHSAL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in the aganglionic colon suggests that NEDL2 may play a role in the pathophysiology of Hirschsprung disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

mice lacking NEDL2 exhibit decreased numbers of enteric neurons, progressive bowel dysmotility and intestinal hypoganglionosis