ENSG00000138411


Homo sapiens

Features
Gene ID: ENSG00000138411
  
Biological name :HECW2
  
Synonyms : HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 / HECW2 / Q9P2P5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q32.3
Gene start: 196189099
Gene end: 196593692
  
Corresponding Affymetrix probe sets: 232080_at (Human Genome U133 Plus 2.0 Array)   236089_at (Human Genome U133 Plus 2.0 Array)   243080_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000494800
Ensembl peptide - ENSP00000495504
Ensembl peptide - ENSP00000495418
Ensembl peptide - ENSP00000495351
Ensembl peptide - ENSP00000260983
Ensembl peptide - ENSP00000386775
Ensembl peptide - ENSP00000395770
Ensembl peptide - ENSP00000494649
NCBI entrez gene - 57520     See in Manteia.
OMIM - 617245
RefSeq - XM_006712646
RefSeq - XM_017004563
RefSeq - NM_001348768
RefSeq - NM_020760
RefSeq - XM_006712648
RefSeq - NM_001304840
RefSeq Peptide - NP_001291769
RefSeq Peptide - NP_001335697
RefSeq Peptide - NP_065811
swissprot - Q9P2P5
swissprot - C9JHL2
swissprot - A0A2C9F2N4
Ensembl - ENSG00000138411
  
Related genetic diseases (OMIM): 617268 - Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hecw2aENSDARG00000062447Danio rerio
 hecw2bENSDARG00000063253Danio rerio
 LO018629.1ENSDARG00000113848Danio rerio
 HECW2ENSGALG00000007944Gallus gallus
 Hecw2ENSMUSG00000042807Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HECW1 / Q76N89 / HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1ENSG0000000274658
NEDD4L / Q96PU5 / neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligaseENSG0000004975920
NEDD4 / P46934 / neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligaseENSG0000006986920
ITCH / Q96J02 / itchy E3 ubiquitin protein ligaseENSG0000007874719
WWP1 / Q9H0M0 / WW domain containing E3 ubiquitin protein ligase 1ENSG0000012312419
WWP2 / O00308 / WW domain containing E3 ubiquitin protein ligase 2ENSG0000019837318
Q9HAU4 / SMURF2 / SMAD specific E3 ubiquitin protein ligase 2ENSG0000010885417
Q9HCE7 / SMURF1 / SMAD specific E3 ubiquitin protein ligase 1ENSG0000019874217
HACE1 / Q8IYU2 / HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1ENSG0000008538214


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR000569  HECT domain
 IPR001202  WW domain
 IPR024928  E3 ubiquitin-protein ligase, SMURF1 type
 IPR032348  E3 ubiquitin-protein ligase HECW1/2, N-terminal
 IPR035892  C2 domain superfamily
 IPR035983  HECT, E3 ligase catalytic domain
 IPR036020  WW domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006511 ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0016567 protein ubiquitination IEA
 biological_processGO:0030071 regulation of mitotic metaphase/anaphase transition IMP
 biological_processGO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005819 spindle IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0072686 mitotic spindle IDA
 molecular_functionGO:0004842 ubiquitin-protein transferase activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0061630 ubiquitin protein ligase activity IEA


Pathways (from Reactome)
Pathway description
Antigen processing: Ubiquitination & Proteasome degradation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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