• Gene id: 57520

Gene Summary

• Gene Symbol: HECW2   Gene   UCSC   Ensembl
• Aliases: NDHSAL, NEDL2
• Gene name: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
• Alternate names: E3 ubiquitin-protein ligase HECW2, HECT-type E3 ubiquitin transferase HECW2, NEDD4-like E3 ubiquitin-protein ligase 2, NEDD4-related E3 ubiquitin ligase NEDL2,
• Gene location: 2q32.3 (196593691: 196194071)     Exons: 31     NC_000002.12
• Gene summary(Entrez): 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
• OMIM: 617245

Protein Summary

• Protein general information: Q9P2P5  
  • Name: E3 ubiquitin protein ligase HECW2 (EC 2.3.2.26) (HECT, C2 and WW domain containing protein 2) (HECT type E3 ubiquitin transferase HECW2) (NEDD4 like E3 ubiquitin protein ligase 2)
  • Length: 1572  
  • Mass: 175769
  • Tissue specificity: Predominantly expressed in adult brain, lung and heart. {ECO
• Sequence:

  MASSAREHLLFVRRRNPQMRYTLSPENLQSLAAQSSMPENMTLQRANSDTDLVTSESRSSLTASMYEYTLGQAQN
  LIIFWDIKEEVDPSDWIGLYHIDENSPANFWDSKNRGVTGTQKGQIVWRIEPGPYFMEPEIKICFKYYHGISGAL
  RATTPCITVKNPAVMMGAEGMEGGASGNLHSRKLVSFTLSDLRAVGLKKGMFFNPDPYLKMSIQPGKKSSFPTCA
  HHGQERRSTIISNTTNPIWHREKYSFFALLTDVLEIEIKDKFAKSRPIIKRFLGKLTIPVQRLLERQAIGDQMLS
  YNLGRRLPADHVSGYLQFKVEVTSSVHEDASPEAVGTILGVNSVNGDLGSPSDDEDMPGSHHDSQVCSNGPVSED
  SAADGTPKHSFRTSSTLEIDTEELTSTSSRTSPPRGRQDSLNDYLDAIEHNGHSRPGTATCSERSMGASPKLRSS
  FPTDTRLNAMLHIDSDEEDHEFQQDLGYPSSLEEEGGLIMFSRASRADDGSLTSQTKLEDNPVENEEASTHEAAS
  FEDKPENLPELAESSLPAGPAPEEGEGGPEPQPSADQGSAELCGSQEVDQPTSGADTGTSDASGGSRRAVSETES
  LDQGSEPSQVSSETEPSDPARTESVSEASTRPEGESDLECADSSCNESVTTQLSSVDTRCSSLESARFPETPAFS
  SQEEEDGACAAEPTSSGPAEGSQESVCTAGSLPVVQVPSGEDEGPGAESATVPDQEELGEVWQRRGSLEGAAAAA
  ESPPQEEGSAGEAQGTCEGATAQEEGATGGSQANGHQPLRSLPSVRQDVSRYQRVDEALPPNWEARIDSHGRIFY
  VDHVNRTTTWQRPTAPPAPQVLQRSNSIQQMEQLNRRYQSIRRTMTNERPEENTNAIDGAGEEADFHQASADFRR
  ENILPHSTSRSRITLLLQSPPVKFLISPEFFTVLHSNPSAYRMFTNNTCLKHMITKVRRDTHHFERYQHNRDLVG
  FLNMFANKQLELPRGWEMKHDHQGKAFFVDHNSRTTTFIDPRLPLQSSRPTSALVHRQHLTRQRSHSAGEVGEDS
  RHAGPPVLPRPSSTFNTVSRPQYQDMVPVAYNDKIVAFLRQPNIFEILQERQPDLTRNHSLREKIQFIRTEGTPG
  LVRLSSDADLVMLLSLFEEEIMSYVPPHALLHPSYCQSPRGSPVSSPQNSPGTQRANARAPAPYKRDFEAKLRNF
  YRKLETKGYGQGPGKLKLIIRRDHLLEDAFNQIMGYSRKDLQRNKLYVTFVGEEGLDYSGPSREFFFLVSRELFN
  PYYGLFEYSANDTYTVQISPMSAFVDNHHEWFRFSGRILGLALIHQYLLDAFFTRPFYKALLRILCDLSDLEYLD
  EEFHQSLQWMKDNDIHDILDLTFTVNEEVFGQITERELKPGGANIPVTEKNKKEYIERMVKWRIERGVVQQTESL
  VRGFYEVVDARLVSVFDARELELVIAGTAEIDLSDWRNNTEYRGGYHDNHIVIRWFWAAVERFNNEQRLRLLQFV
  TGTSSIPYEGFASLRGSNGPRRFCVEKWGKITALPRAHTCFNRLDLPPYPSFSMLYEKLLTAVEETSTFGLE

• Structural information:
  • Protein Domains: (167..30-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (807..84-)
    (/note="WW-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (985..101-)
    (/note="WW-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00224-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR037795  IPR000569  IPR035983   IPR040524  IPR032348  IPR001202  IPR036020  
  • Prosite: PS50004 PS50237 PS01159 PS50020
  • CDD: cd08691 cd00078 cd00201
  • PDB: 2LFE
  • PDBsum: 2LFE
  • STRING: ENSP00000260983
• Other Databases: GeneCards:  HECW2  Malacards:  HECW2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0045732	positive regulation of protein catabolic process	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0000209	protein polyubiquitination	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0016567	protein ubiquitination	IBA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0048814	regulation of dendrite morphogenesis	IBA	biological process
GO:2000650	negative regulation of sodium ion transmembrane transporter activity	IBA	biological process
GO:0072686	mitotic spindle	IDA	cellular component
GO:0030071	regulation of mitotic metaphase/anaphase transition	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq