• Gene id: 57495

Gene Summary

• Gene Symbol: NWD2   Gene   UCSC   Ensembl
• Aliases: KIAA1239
• Gene name: NACHT and WD repeat domain containing 2
• Alternate names: NACHT and WD repeat domain-containing protein 2,
• Gene location: 4p14 (100559758: 100509751)     Exons: 7     NC_000008.11

Protein Summary

• Protein general information: Q9ULI1  
  • Name: NACHT and WD repeat domain containing protein 2 (Leucine rich repeat and WD repeat containing protein KIAA1239)
  • Length: 1742  
  • Mass: 197466
• Sequence:

  MWPAGAGTKLPCPRDSALRRAAFSGNLTALPSHLVPAGRSVRVFISANPEDTGAERQALRENVYPKLREFCRENY
  GLEFQVIDLYWGVEEDEWDSPELQKTRMKLLENCLKTSAGPCFVGLLGEKYGNIRIPGEVEASEFEMILDAAIEA
  KLETKLLEEWYCRDENSVPAAYYLRPKSEMLRSNRNAMQPSTNAENEKTWQEISDEIKKIFKAAVKLLHEKGKMK
  HSQAKRYLFSAIEDEFDFALGKQTPAFLKKCVCYIRKIANIERFVKIPEMGKYMDITGTEPRIIRDPEAQEKLIK
  LRDEFIPTIVASSNLRVYTSVTHCDMKLGYSQEIENHYIEGLGKQFYEDMIDIIQATIQQNFDTETDTLYDEILQ
  HSSLCKTYASFYEYKCESLNIVHNYILPSKAGHINPLIIYGGPCTGKTLLLAEVAKKAYGWLHEDTGPESDPVVI
  VRFLGTTDMSSDLRTLLLSVCEQLAVNYRCLVQSYPKKIHDLCDLFINLLNESSLQRPLVIIFDALEQLSENDDA
  RKLWWLPAHLPRFVRIVLSTLPNKHGILQKLRCLIHEEDNYIELIPRDRKMCSQVLKHQLLRVKRKVTSGQQIYV
  NNALSKCTLPMFVNLTFREVRHWRSHKDVDESSLSVTVHESIEQLFWSLEKKCGQKLVSRALGYITMAKMGLSEM
  ELEDVLALDNSVMSELKENTRPSNPLRVPYLYIARLKEGLSGYLIERHVKNVTLLVWANRHLQLIAQKLYLQDDN
  DLREMHTILADYFLGVWSGGRRKAFCLEDPYLNGCLDLENRSLLEEEKHFMEQASFDRQAPDQPWVFQCNPLEPD
  IFFVNHRKMSELLYHLTRCGKTDDLLYGIIMNFSWLYTMIKIGQFDKVLSDIELAYNYSQEKELKFLANTLRSIK
  NKVTAFPGSLSAELQQRLLPVVSSLPKLRHLLLECDKDGPKYCSIVPLHSSMDVTYSPERLPLSSSHLHVTEILP
  TCNPSTVLTALENGSISTWDVETRQLLRQITTAQSVILGMKLTSDEKYLVVATTNNTLLIYDNVNSCLLSEVEIK
  GTKHGSSATYINGFTLSANHALAWLEASKDVTVIDLLYGWPLYQFHCWYEVTCVQCSLDGLYAFCGQYLNTTTIF
  HLGSGEKLCTVTSEFSGGFVKFLLILDTAQEMVMVDSEGSLSVWNTEDISSPQLTDDFDCRREDSEVVSIELSED
  QSAVLICKALSIELLDTGLWKVAEKFRAKHNERFISAVLSKNGDCIIATMENTSAVFFWRRDTGQCMASLQEISG
  SIVKLVKSSHHNMLLSLSTSGVLSIWDIDIITAMSNIDKTGKPIQSLLLPARGEIIYSLDGSDCVHKWNFSSGFI
  EAVFKHEGIVEHCVLTSTGDIMVTSDDKSSQYVWHTSSGENLFRINGQRISQLLITHNDQFVVSLCEENASRVWR
  LATGHRVCNILTTLQNAFITSANTFVVGMTKSKVLAVSLWTGSITKKFCCEDGTTIVNFKLIPDCPDIIVFITSA
  ETVNIWSLTDEVICRRVQLPNNFLKNLEDFEISPNGKLGIIARGDENINVLDLYSGKLRVVHASGIIWRQRLSRD
  GRYLVYICFRNGEEEDENGAIFSLIVMRLADGKNIGACSLYKTPTFLALSQRHLNIIVGFDDGSIGIYTVVDRVD
  AALKIKIATSNSRQIFNNATHTSRPKCNSYCFKISVDCLWRESTEVFARDSPITVSDSTESNEATPSKKHNSCYE
  RVCSALEARGHSYAPDN

• Structural information:
  • Protein Domains: (410..73-)
    (/note="NACHT"-)
  • Interpro: IPR007111  IPR027417  IPR015943  IPR001680  IPR019775   IPR017986  IPR036322  
  • Prosite: PS00678 PS50294
  • STRING: ENSP00000309501
• Other Databases: GeneCards:  NWD2  Malacards:  NWD2

Diseases

Associated diseases	References
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)