ID   NWD2_HUMAN              Reviewed;        1742 AA.
AC   Q9ULI1; A8MRU1;
DT   26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT   26-FEB-2008, sequence version 3.
DT   03-AUG-2022, entry version 130.
DE   RecName: Full=NACHT and WD repeat domain-containing protein 2;
DE   AltName: Full=Leucine-rich repeat and WD repeat-containing protein KIAA1239;
GN   Name=NWD2; Synonyms=KIAA1239;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15815621; DOI=10.1038/nature03466;
RA   Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA   Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA   Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA   Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA   Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA   Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA   Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA   Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA   Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA   McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA   Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA   Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA   Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA   Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA   Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA   Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA   Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA   Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA   Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA   Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA   Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA   Wilson R.K.;
RT   "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT   4.";
RL   Nature 434:724-731(2005).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 579-1742.
RC   TISSUE=Brain;
RX   PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA   Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XV. The
RT   complete sequences of 100 new cDNA clones from brain which code for large
RT   proteins in vitro.";
RL   DNA Res. 6:337-345(1999).
RN   [3]
RP   SEQUENCE REVISION.
RX   PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA   Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT   "Construction of expression-ready cDNA clones for KIAA genes: manual
RT   curation of 330 KIAA cDNA clones.";
RL   DNA Res. 9:99-106(2002).
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DR   EMBL; AC022463; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AB033065; BAA86553.2; -; mRNA.
DR   CCDS; CCDS47040.1; -.
DR   RefSeq; NP_001138462.1; NM_001144990.1.
DR   AlphaFoldDB; Q9ULI1; -.
DR   BioGRID; 121562; 2.
DR   STRING; 9606.ENSP00000309501; -.
DR   iPTMnet; Q9ULI1; -.
DR   PhosphoSitePlus; Q9ULI1; -.
DR   BioMuta; NWD2; -.
DR   DMDM; 172044833; -.
DR   MassIVE; Q9ULI1; -.
DR   MaxQB; Q9ULI1; -.
DR   PaxDb; Q9ULI1; -.
DR   PeptideAtlas; Q9ULI1; -.
DR   PRIDE; Q9ULI1; -.
DR   ProteomicsDB; 85034; -.
DR   Antibodypedia; 71143; 3 antibodies from 3 providers.
DR   DNASU; 57495; -.
DR   Ensembl; ENST00000309447.6; ENSP00000309501.5; ENSG00000174145.8.
DR   GeneID; 57495; -.
DR   KEGG; hsa:57495; -.
DR   MANE-Select; ENST00000309447.6; ENSP00000309501.5; NM_001144990.2; NP_001138462.1.
DR   UCSC; uc011bxz.3; human.
DR   CTD; 57495; -.
DR   DisGeNET; 57495; -.
DR   GeneCards; NWD2; -.
DR   HGNC; HGNC:29229; NWD2.
DR   HPA; ENSG00000174145; Tissue enhanced (adipose tissue, brain).
DR   neXtProt; NX_Q9ULI1; -.
DR   OpenTargets; ENSG00000174145; -.
DR   PharmGKB; PA145148614; -.
DR   VEuPathDB; HostDB:ENSG00000174145; -.
DR   eggNOG; KOG3602; Eukaryota.
DR   GeneTree; ENSGT00940000153648; -.
DR   HOGENOM; CLU_003267_0_0_1; -.
DR   InParanoid; Q9ULI1; -.
DR   OMA; PYIYIAR; -.
DR   OrthoDB; 20367at2759; -.
DR   PhylomeDB; Q9ULI1; -.
DR   TreeFam; TF332647; -.
DR   PathwayCommons; Q9ULI1; -.
DR   BioGRID-ORCS; 57495; 9 hits in 1061 CRISPR screens.
DR   GenomeRNAi; 57495; -.
DR   Pharos; Q9ULI1; Tdark.
DR   PRO; PR:Q9ULI1; -.
DR   Proteomes; UP000005640; Chromosome 4.
DR   RNAct; Q9ULI1; protein.
DR   Bgee; ENSG00000174145; Expressed in endothelial cell and 66 other tissues.
DR   Genevisible; Q9ULI1; HS.
DR   Gene3D; 2.130.10.10; -; 3.
DR   Gene3D; 3.40.50.300; -; 1.
DR   InterPro; IPR007111; NACHT_NTPase.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR   InterPro; IPR001680; WD40_repeat.
DR   InterPro; IPR036322; WD40_repeat_dom_sf.
DR   Pfam; PF05729; NACHT; 1.
DR   SMART; SM00320; WD40; 5.
DR   SUPFAM; SSF50978; SSF50978; 2.
DR   SUPFAM; SSF52540; SSF52540; 1.
DR   PROSITE; PS00678; WD_REPEATS_1; 1.
DR   PROSITE; PS50294; WD_REPEATS_REGION; 2.
PE   2: Evidence at transcript level;
KW   Leucine-rich repeat; Reference proteome; Repeat; WD repeat.
FT   CHAIN           1..1742
FT                   /note="NACHT and WD repeat domain-containing protein 2"
FT                   /id="PRO_0000320920"
FT   REPEAT          386..410
FT                   /note="LRR 1"
FT   DOMAIN          410..737
FT                   /note="NACHT"
FT   REPEAT          677..698
FT                   /note="LRR 2"
FT   REPEAT          724..747
FT                   /note="LRR 3"
FT   REPEAT          883..906
FT                   /note="LRR 4"
FT   REPEAT          925..953
FT                   /note="LRR 5"
FT   REPEAT          963..1004
FT                   /note="WD 1"
FT   REPEAT          1007..1046
FT                   /note="WD 2"
FT   REPEAT          1140..1179
FT                   /note="WD 3"
FT   REPEAT          1229..1271
FT                   /note="WD 4"
FT   REPEAT          1272..1311
FT                   /note="WD 5"
FT   REPEAT          1314..1353
FT                   /note="WD 6"
FT   REPEAT          1355..1394
FT                   /note="WD 7"
FT   REPEAT          1396..1434
FT                   /note="WD 8"
FT   REPEAT          1476..1516
FT                   /note="WD 9"
FT   REPEAT          1522..1564
FT                   /note="WD 10"
FT   REPEAT          1614..1653
FT                   /note="WD 11"
FT   VARIANT         569
FT                   /note="L -> M (in dbSNP:rs4634233)"
FT                   /id="VAR_039304"
SQ   SEQUENCE   1742 AA;  197466 MW;  FBD5E5281EA54C36 CRC64;
     MWPAGAGTKL PCPRDSALRR AAFSGNLTAL PSHLVPAGRS VRVFISANPE DTGAERQALR
     ENVYPKLREF CRENYGLEFQ VIDLYWGVEE DEWDSPELQK TRMKLLENCL KTSAGPCFVG
     LLGEKYGNIR IPGEVEASEF EMILDAAIEA KLETKLLEEW YCRDENSVPA AYYLRPKSEM
     LRSNRNAMQP STNAENEKTW QEISDEIKKI FKAAVKLLHE KGKMKHSQAK RYLFSAIEDE
     FDFALGKQTP AFLKKCVCYI RKIANIERFV KIPEMGKYMD ITGTEPRIIR DPEAQEKLIK
     LRDEFIPTIV ASSNLRVYTS VTHCDMKLGY SQEIENHYIE GLGKQFYEDM IDIIQATIQQ
     NFDTETDTLY DEILQHSSLC KTYASFYEYK CESLNIVHNY ILPSKAGHIN PLIIYGGPCT
     GKTLLLAEVA KKAYGWLHED TGPESDPVVI VRFLGTTDMS SDLRTLLLSV CEQLAVNYRC
     LVQSYPKKIH DLCDLFINLL NESSLQRPLV IIFDALEQLS ENDDARKLWW LPAHLPRFVR
     IVLSTLPNKH GILQKLRCLI HEEDNYIELI PRDRKMCSQV LKHQLLRVKR KVTSGQQIYV
     NNALSKCTLP MFVNLTFREV RHWRSHKDVD ESSLSVTVHE SIEQLFWSLE KKCGQKLVSR
     ALGYITMAKM GLSEMELEDV LALDNSVMSE LKENTRPSNP LRVPYLYIAR LKEGLSGYLI
     ERHVKNVTLL VWANRHLQLI AQKLYLQDDN DLREMHTILA DYFLGVWSGG RRKAFCLEDP
     YLNGCLDLEN RSLLEEEKHF MEQASFDRQA PDQPWVFQCN PLEPDIFFVN HRKMSELLYH
     LTRCGKTDDL LYGIIMNFSW LYTMIKIGQF DKVLSDIELA YNYSQEKELK FLANTLRSIK
     NKVTAFPGSL SAELQQRLLP VVSSLPKLRH LLLECDKDGP KYCSIVPLHS SMDVTYSPER
     LPLSSSHLHV TEILPTCNPS TVLTALENGS ISTWDVETRQ LLRQITTAQS VILGMKLTSD
     EKYLVVATTN NTLLIYDNVN SCLLSEVEIK GTKHGSSATY INGFTLSANH ALAWLEASKD
     VTVIDLLYGW PLYQFHCWYE VTCVQCSLDG LYAFCGQYLN TTTIFHLGSG EKLCTVTSEF
     SGGFVKFLLI LDTAQEMVMV DSEGSLSVWN TEDISSPQLT DDFDCRREDS EVVSIELSED
     QSAVLICKAL SIELLDTGLW KVAEKFRAKH NERFISAVLS KNGDCIIATM ENTSAVFFWR
     RDTGQCMASL QEISGSIVKL VKSSHHNMLL SLSTSGVLSI WDIDIITAMS NIDKTGKPIQ
     SLLLPARGEI IYSLDGSDCV HKWNFSSGFI EAVFKHEGIV EHCVLTSTGD IMVTSDDKSS
     QYVWHTSSGE NLFRINGQRI SQLLITHNDQ FVVSLCEENA SRVWRLATGH RVCNILTTLQ
     NAFITSANTF VVGMTKSKVL AVSLWTGSIT KKFCCEDGTT IVNFKLIPDC PDIIVFITSA
     ETVNIWSLTD EVICRRVQLP NNFLKNLEDF EISPNGKLGI IARGDENINV LDLYSGKLRV
     VHASGIIWRQ RLSRDGRYLV YICFRNGEEE DENGAIFSLI VMRLADGKNI GACSLYKTPT
     FLALSQRHLN IIVGFDDGSI GIYTVVDRVD AALKIKIATS NSRQIFNNAT HTSRPKCNSY
     CFKISVDCLW RESTEVFARD SPITVSDSTE SNEATPSKKH NSCYERVCSA LEARGHSYAP
     DN