NWD2 (NACHT and WD repeat domain containing 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 57495
Gene name NACHT and WD repeat domain containing 2
Gene symbol NWD2
Synonyms (NCBI Gene)
KIAA1239
Chromosome 4
Chromosome location 4p14
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0045202 Component Synapse IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620172 29229 ENSG00000174145
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Gene Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALE REPRODUCTIVE ORGAN CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only
Oculocerebrorenal Syndrome Oculocerebrorenal syndrome Pubtator 37082886 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only