THUM2_HUMAN
ID THUM2_HUMAN Reviewed; 503 AA.
AC Q9BTF0; A8K7I7; Q53TT8; Q53TV0;
DT 05-JUL-2004, integrated into UniProtKB/Swiss-Prot.
DT 27-JUL-2011, sequence version 2.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=THUMP domain-containing protein 2;
GN Name=THUMPD2; Synonyms=C2orf8;
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 [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1), AND
RP TISSUE SPECIFICITY.
RX PubMed=12063391; DOI=10.1159/000059337;
RA Zhang Y., Gorry M.C., Hart P.S., Pettenati M.J., Wang L., Marks J.J.,
RA Lu X., Hart T.C.;
RT "Localization, genomic organization, and alternative transcription of a
RT novel human SAM-dependent methyltransferase gene on chromosome
RT 2p22-->p21.";
RL Cytogenet. Cell Genet. 95:146-152(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Small intestine, and Thymus;
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=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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2-503 (ISOFORM 1).
RC TISSUE=Muscle;
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 [6]
RP INTERACTION WITH TRMT112.
RX PubMed=34948388; DOI=10.3390/ijms222413593;
RA Brumele B., Mutso M., Telanne L., Ounap K., Spunde K., Abroi A., Kurg R.;
RT "Human TRMT112-Methyltransferase Network Consists of Seven Partners
RT Interacting with a Common Co-Factor.";
RL Int. J. Mol. Sci. 22:13593-13593(2021).
CC -!- SUBUNIT: Interacts with TRMT112. {ECO:0000269|PubMed:34948388}.
CC -!- INTERACTION:
CC Q9BTF0; O76024: WFS1; NbExp=3; IntAct=EBI-15105991, EBI-720609;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BTF0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BTF0-2; Sequence=VSP_041645, VSP_041646;
CC -!- TISSUE SPECIFICITY: Expressed in a variety of tissues including brain,
CC colon, gingiva, heart, kidney, liver, lung, placenta, small intestine,
CC spleen and thymus. {ECO:0000269|PubMed:12063391}.
CC -!- SIMILARITY: Belongs to the methyltransferase superfamily.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH04163.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAH13299.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAL26317.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAY14769.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF380576; AAL26317.1; ALT_INIT; Genomic_DNA.
DR EMBL; AF380566; AAL26317.1; JOINED; Genomic_DNA.
DR EMBL; AF380567; AAL26317.1; JOINED; Genomic_DNA.
DR EMBL; AF380568; AAL26317.1; JOINED; Genomic_DNA.
DR EMBL; AF380569; AAL26317.1; JOINED; Genomic_DNA.
DR EMBL; AF380570; AAL26317.1; JOINED; Genomic_DNA.
DR EMBL; AF380571; AAL26317.1; JOINED; Genomic_DNA.
DR EMBL; AF380573; AAL26317.1; JOINED; Genomic_DNA.
DR EMBL; AF380574; AAL26317.1; JOINED; Genomic_DNA.
DR EMBL; AF380575; AAL26317.1; JOINED; Genomic_DNA.
DR EMBL; AK292002; BAF84691.1; -; mRNA.
DR EMBL; AK093580; BAG52741.1; -; mRNA.
DR EMBL; AC007246; AAX93065.1; -; Genomic_DNA.
DR EMBL; AC007253; AAY14769.1; ALT_INIT; Genomic_DNA.
DR EMBL; CH471053; EAX00339.1; -; Genomic_DNA.
DR EMBL; CH471053; EAX00340.1; -; Genomic_DNA.
DR EMBL; BC004163; AAH04163.1; ALT_INIT; mRNA.
DR EMBL; BC013299; AAH13299.1; ALT_INIT; mRNA.
DR CCDS; CCDS1805.2; -. [Q9BTF0-1]
DR RefSeq; NP_079540.2; NM_025264.4. [Q9BTF0-1]
DR AlphaFoldDB; Q9BTF0; -.
DR SMR; Q9BTF0; -.
DR BioGRID; 123287; 14.
DR IntAct; Q9BTF0; 8.
DR STRING; 9606.ENSP00000423933; -.
DR iPTMnet; Q9BTF0; -.
DR PhosphoSitePlus; Q9BTF0; -.
DR BioMuta; THUMPD2; -.
DR DMDM; 342187042; -.
DR EPD; Q9BTF0; -.
DR jPOST; Q9BTF0; -.
DR MassIVE; Q9BTF0; -.
DR MaxQB; Q9BTF0; -.
DR PaxDb; Q9BTF0; -.
DR PeptideAtlas; Q9BTF0; -.
DR PRIDE; Q9BTF0; -.
DR ProteomicsDB; 78990; -. [Q9BTF0-1]
DR ProteomicsDB; 78991; -. [Q9BTF0-2]
DR Antibodypedia; 29662; 52 antibodies from 17 providers.
DR DNASU; 80745; -.
DR Ensembl; ENST00000378727.8; ENSP00000368001.4; ENSG00000138050.15. [Q9BTF0-2]
DR Ensembl; ENST00000505747.6; ENSP00000423933.1; ENSG00000138050.15. [Q9BTF0-1]
DR GeneID; 80745; -.
DR KEGG; hsa:80745; -.
DR MANE-Select; ENST00000505747.6; ENSP00000423933.1; NM_025264.5; NP_079540.2.
DR UCSC; uc002rru.3; human. [Q9BTF0-1]
DR CTD; 80745; -.
DR DisGeNET; 80745; -.
DR GeneCards; THUMPD2; -.
DR HGNC; HGNC:14890; THUMPD2.
DR HPA; ENSG00000138050; Low tissue specificity.
DR MIM; 611751; gene.
DR neXtProt; NX_Q9BTF0; -.
DR OpenTargets; ENSG00000138050; -.
DR PharmGKB; PA134976355; -.
DR VEuPathDB; HostDB:ENSG00000138050; -.
DR eggNOG; ENOG502QSR4; Eukaryota.
DR GeneTree; ENSGT00530000063557; -.
DR HOGENOM; CLU_045692_1_0_1; -.
DR InParanoid; Q9BTF0; -.
DR OMA; QWTSAVM; -.
DR PhylomeDB; Q9BTF0; -.
DR TreeFam; TF313093; -.
DR PathwayCommons; Q9BTF0; -.
DR SignaLink; Q9BTF0; -.
DR BioGRID-ORCS; 80745; 18 hits in 1076 CRISPR screens.
DR ChiTaRS; THUMPD2; human.
DR GenomeRNAi; 80745; -.
DR Pharos; Q9BTF0; Tdark.
DR PRO; PR:Q9BTF0; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9BTF0; protein.
DR Bgee; ENSG00000138050; Expressed in ascending aorta and 155 other tissues.
DR ExpressionAtlas; Q9BTF0; baseline and differential.
DR Genevisible; Q9BTF0; HS.
DR GO; GO:0003723; F:RNA binding; IEA:UniProtKB-KW.
DR GO; GO:0016423; F:tRNA (guanine) methyltransferase activity; IBA:GO_Central.
DR GO; GO:0030488; P:tRNA methylation; IBA:GO_Central.
DR Gene3D; 3.40.50.150; -; 1.
DR InterPro; IPR000241; RNA_methylase_dom.
DR InterPro; IPR029063; SAM-dependent_MTases_sf.
DR InterPro; IPR004114; THUMP_dom.
DR Pfam; PF02926; THUMP; 1.
DR Pfam; PF01170; UPF0020; 1.
DR SMART; SM00981; THUMP; 1.
DR SUPFAM; SSF53335; SSF53335; 1.
DR PROSITE; PS51165; THUMP; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Methyltransferase; Reference proteome; RNA-binding;
KW Transferase.
FT CHAIN 1..503
FT /note="THUMP domain-containing protein 2"
FT /id="PRO_0000072532"
FT DOMAIN 161..266
FT /note="THUMP"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00529"
FT VAR_SEQ 298..303
FT /note="AGAFVL -> VPYGSD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041645"
FT VAR_SEQ 304..503
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041646"
SQ SEQUENCE 503 AA; 56433 MW; 8CBF950B5EDED103 CRC64;
MSEARGEPGS GPEAGARFFC TAGRGLEPFV MREVRARLAA TQVEYISGKV FFTTCSDLNM
LKKLKSAERL FLLIKKQFPL IISSVSKGKI FNEMQRLINE DPGSWLNAIS IWKNLLELDA
KKEKLSQRDD NQLKRKVGEN EIIAKKLKIE QMQKIEENRD CQLEKQIKEE TLEQRDFTTK
SEKFQEEEFQ NDIEKAIDTH NQNDLTFRVS CRCSGTIGKA FTAQEVGKVI GIAIMKHFGW
KADLRNPQLE IFIHLNDIYS VVGIPVFRVS LASRAYIKTA GLRSTIAWAM ASLADIKAGA
FVLDPMCGLG TILLEAAKEW PDVYYVGADV SDSQLLGTWD NLKAAGLEDK IELLKISVIE
LPLPSESVDI IISDIPFGKK FKLGKDIKSI LQEMERVLHV GGTIVLLLSE DHHRRLTDCK
ESNIPFNSKD SHTDEPGIKK CLNPEEKTGA FKTASTSFEA SNHKFLDRMS PFGSLVPVEC
YKVSLGKTDA FICKYKKSHS SGL
