DIK2B_HUMAN
ID DIK2B_HUMAN Reviewed; 433 AA.
AC Q9H7Y0; A8MUU5; B2RPN7; Q6UWJ5;
DT 05-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 04-NOV-2008, sequence version 3.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Divergent protein kinase domain 2B {ECO:0000305};
DE AltName: Full=Deleted in autism-related protein 1 {ECO:0000303|PubMed:21264219};
DE Flags: Precursor;
GN Name=DIPK2B {ECO:0000312|HGNC:HGNC:25866};
GN Synonyms=CXorf36, DIA1R {ECO:0000303|PubMed:21264219};
GN ORFNames=UNQ1862/PRO3743;
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 MRNA] (ISOFORM 2).
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT LYS-128.
RC TISSUE=Mammary gland;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT LYS-128.
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP POSSIBLE INVOLVEMENT IN SUSCEPTIBILITY TO AUTISM.
RX PubMed=21264219; DOI=10.1371/journal.pone.0014534;
RA Aziz A., Harrop S.P., Bishop N.E.;
RT "DIA1R is an X-linked gene related to Deleted In Autism-1.";
RL PLoS ONE 6:E14534-E14534(2011).
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9H7Y0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9H7Y0-2; Sequence=VSP_035633, VSP_035634;
CC -!- DISEASE: Note=Genetic variations in CXorf36 may be associated with
CC susceptibility to autism. {ECO:0000269|PubMed:21264219}.
CC -!- SIMILARITY: Belongs to the DIPK family. {ECO:0000305}.
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DR EMBL; AY358764; AAQ89124.1; -; mRNA.
DR EMBL; AK024165; BAB14843.1; -; mRNA.
DR EMBL; AC136488; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC137528; AAI37529.1; -; mRNA.
DR EMBL; BC137529; AAI37530.1; -; mRNA.
DR CCDS; CCDS14266.1; -. [Q9H7Y0-2]
DR CCDS; CCDS48096.1; -. [Q9H7Y0-1]
DR RefSeq; NP_078965.2; NM_024689.2. [Q9H7Y0-2]
DR RefSeq; NP_789789.2; NM_176819.3. [Q9H7Y0-1]
DR AlphaFoldDB; Q9H7Y0; -.
DR BioGRID; 122855; 1.
DR STRING; 9606.ENSP00000381086; -.
DR GlyGen; Q9H7Y0; 1 site.
DR iPTMnet; Q9H7Y0; -.
DR PhosphoSitePlus; Q9H7Y0; -.
DR BioMuta; CXorf36; -.
DR DMDM; 212276509; -.
DR MassIVE; Q9H7Y0; -.
DR PaxDb; Q9H7Y0; -.
DR PeptideAtlas; Q9H7Y0; -.
DR PRIDE; Q9H7Y0; -.
DR ProteomicsDB; 81157; -. [Q9H7Y0-1]
DR TopDownProteomics; Q9H7Y0-1; -. [Q9H7Y0-1]
DR Antibodypedia; 455; 117 antibodies from 16 providers.
DR DNASU; 79742; -.
DR Ensembl; ENST00000377934.4; ENSP00000367168.4; ENSG00000147113.17. [Q9H7Y0-2]
DR Ensembl; ENST00000398000.7; ENSP00000381086.2; ENSG00000147113.17. [Q9H7Y0-1]
DR GeneID; 79742; -.
DR KEGG; hsa:79742; -.
DR MANE-Select; ENST00000398000.7; ENSP00000381086.2; NM_176819.4; NP_789789.2.
DR UCSC; uc004dgg.3; human. [Q9H7Y0-1]
DR CTD; 79742; -.
DR DisGeNET; 79742; -.
DR GeneCards; DIPK2B; -.
DR HGNC; HGNC:25866; DIPK2B.
DR HPA; ENSG00000147113; Low tissue specificity.
DR MIM; 300959; gene.
DR neXtProt; NX_Q9H7Y0; -.
DR OpenTargets; ENSG00000147113; -.
DR PharmGKB; PA134972038; -.
DR VEuPathDB; HostDB:ENSG00000147113; -.
DR eggNOG; ENOG502QRQX; Eukaryota.
DR GeneTree; ENSGT00520000055625; -.
DR HOGENOM; CLU_051861_0_0_1; -.
DR InParanoid; Q9H7Y0; -.
DR OMA; PHVKPSY; -.
DR PhylomeDB; Q9H7Y0; -.
DR TreeFam; TF353643; -.
DR PathwayCommons; Q9H7Y0; -.
DR BioGRID-ORCS; 79742; 14 hits in 691 CRISPR screens.
DR ChiTaRS; CXorf36; human.
DR GeneWiki; CXorf36; -.
DR GenomeRNAi; 79742; -.
DR Pharos; Q9H7Y0; Tdark.
DR PRO; PR:Q9H7Y0; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9H7Y0; protein.
DR Bgee; ENSG00000147113; Expressed in omental fat pad and 126 other tissues.
DR Genevisible; Q9H7Y0; HS.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR InterPro; IPR020519; DIPK2A/B.
DR InterPro; IPR022049; FAM69_kinase_dom.
DR PANTHER; PTHR32073; PTHR32073; 1.
DR Pfam; PF12260; PIP49_C; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Autism; Autism spectrum disorder; Glycoprotein;
KW Reference proteome; Secreted; Signal.
FT SIGNAL 1..31
FT /evidence="ECO:0000255"
FT CHAIN 32..433
FT /note="Divergent protein kinase domain 2B"
FT /id="PRO_0000019568"
FT CARBOHYD 100
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 167..182
FT /note="GLASPLLRCPSQRLLD -> DCHQGQRELKFLCMLR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT /id="VSP_035633"
FT VAR_SEQ 183..433
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:12975309,
FT ECO:0000303|PubMed:14702039, ECO:0000303|PubMed:15489334"
FT /id="VSP_035634"
FT VARIANT 128
FT /note="R -> K (in dbSNP:rs1132201)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_047103"
FT VARIANT 146
FT /note="R -> Q (in dbSNP:rs9969)"
FT /id="VAR_047104"
SQ SEQUENCE 433 AA; 48555 MW; 547218A719CF7135 CRC64;
MEPQLGPEAA ALRPGWLALL LWVSALSCSF SLPASSLSSL VPQVRTSYNF GRTFLGLDKC
NACIGTSICK KFFKEEIRSD NWLASHLGLP PDSLLSYPAN YSDDSKIWRP VEIFRLVSKY
QNEISDRRIC ASASAPKTCS IERVLRKTER FQKWLQAKRL TPDLVQGLAS PLLRCPSQRL
LDRVVRRYAE VADAGSIFMD HFTDRDKLRL LYTLAVNSHP ILLQIFPGAE GWPLPKYLGS
CGRFLVSTST RPLQEFYDAP PDQAADLAYQ LLGVLESLRS NDLNYFFYFT HIDAGMFGVF
NNGHLFIRDA SAVGVIDKQE GSQEANRAGE NKDIFSCLVS GCQAQLPSCE SISEKQSLVL
VCQKLLPRLL QGRFPSPVQD DIDSILVQCG DSIRPDPEVL GAASQLKDIL RPLRTCDSRF
AYRYPDCKYN DKF
