NWD2 (NACHT and WD repeat domain containing 2)

Gene
Gene Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57495
Gene name Gene Name - the full gene name approved by the HGNC.
NACHT and WD repeat domain containing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NWD2
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA1239
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p14
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620172 29229 ENSG00000174145
Protein
Gene Other IDs Protein Associated diseases
UniProt ID Q9ULI1
Protein name NACHT and WD repeat domain-containing protein 2 (Leucine-rich repeat and WD repeat-containing protein KIAA1239)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05729 NACHT 410 → 575 NACHT domain Domain
Sequence 
MWPAGAGTKLPCPRDSALRRAAFSGNLTALPSHLVPAGRSVRVFISANPEDTGAERQALR
ENVYPKLREFCRENYGLEFQVIDLYWGVEEDEWDSPELQKTRMKLLENCLKTSAGPCFVG
LLGEKYGNIRIPGEVEASEFEMILDAAIEAKLETKLLEEWYCRDENSVPAAYYLRPKSEM
LRSNRNAMQPSTNAENEKTWQEISDEIKKIFKAAVKLLHEKGKMKHSQAKRYLFSAIEDE
FDFALGKQTPAFLKKCVCYIRKIANIERFVKIPEMGKYMDITGTEPRIIRDPEAQEKLIK
LRDEFIPTIVASSNLRVYTSVTHCDMKLGYSQEIENHYIEGLGKQFYEDMIDIIQATIQQ
NFDTETDTLYDEILQHSSLCKTYASFYEYKCESLNIVHNYILPSKAGHINPLIIYGGPCT
GKTLLLAEVAKKAYGWLHEDTGPESDPVVIVRFLGTTDMSSDLRTLLLSVCEQLAVNYRC
LVQSYPKKIHDLCDLFINLLNESSLQRPLVIIFDALEQLSENDDARKLWWLPAHLPRFVR
IVLSTLPNKHGILQKLRCLIHEEDNYIELIPRDRKMCSQVLKHQLLRVKRKVTSGQQIYV
NNALSKCTLPMFVNLTFREVRHWRSHKDVDESSLSVTVHESIEQLFWSLEKKCGQKLVSR
ALGYITMAKMGLSEMELEDVLALDNSVMSELKENTRPSNPLRVPYLYIARLKEGLSGYLI
ERHVKNVTLLVWANRHLQLIAQKLYLQDDNDLREMHTILADYFLGVWSGGRRKAFCLEDP
YLNGCLDLENRSLLEEEKHFMEQASFDRQAPDQPWVFQCNPLEPDIFFVNHRKMSELLYH
LTRCGKTDDLLYGIIMNFSWLYTMIKIGQFDKVLSDIELAYNYSQEKELKFLANTLRSIK
NKVTAFPGSLSAELQQRLLPVVSSLPKLRHLLLECDKDGPKYCSIVPLHSSMDVTYSPER
LPLSSSHLHVTEILPTCNPSTVLTALENGSISTWDVETRQLLRQITTAQSVILGMKLTSD
EKYLVVATTNNTLLIYDNVNSCLLSEVEIKGTKHGSSATYINGFTLSANHALAWLEASKD
VTVIDLLYGWPLYQFHCWYEVTCVQCSLDGLYAFCGQYLNTTTIFHLGSGEKLCTVTSEF
SGGFVKFLLILDTAQEMVMVDSEGSLSVWNTEDISSPQLTDDFDCRREDSEVVSIELSED
QSAVLICKALSIELLDTGLWKVAEKFRAKHNERFISAVLSKNGDCIIATMENTSAVFFWR
RDTGQCMASLQEISGSIVKLVKSSHHNMLLSLSTSGVLSIWDIDIITAMSNIDKTGKPIQ
SLLLPARGEIIYSLDGSDCVHKWNFSSGFIEAVFKHEGIVEHCVLTSTGDIMVTSDDKSS
QYVWHTSSGENLFRINGQRISQLLITHNDQFVVSLCEENASRVWRLATGHRVCNILTTLQ
NAFITSANTFVVGMTKSKVLAVSLWTGSITKKFCCEDGTTIVNFKLIPDCPDIIVFITSA
ETVNIWSLTDEVICRRVQLPNNFLKNLEDFEISPNGKLGIIARGDENINVLDLYSGKLRV
VHASGIIWRQRLSRDGRYLVYICFRNGEEEDENGAIFSLIVMRLADGKNIGACSLYKTPT
FLALSQRHLNIIVGFDDGSIGIYTVVDRVDAALKIKIATSNSRQIFNNATHTSRPKCNSY
CFKISVDCLWRESTEVFARDSPITVSDSTESNEATPSKKHNSCYERVCSALEARGHSYAP
DN
Sequence length 1742
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Lung adenocarcinoma Lung adenocarcinoma Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors GWAS, CBGDA
Schizophrenia Schizophrenia GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37082886
Oculocerebrorenal Syndrome Associate 37082886