PNMA2_HUMAN
ID PNMA2_HUMAN Reviewed; 364 AA.
AC Q9UL42; B3KNY9; O94959; O95145; Q49A18; Q9UL43;
DT 24-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 24-OCT-2003, sequence version 2.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Paraneoplastic antigen Ma2;
DE AltName: Full=40 kDa neuronal protein;
DE AltName: Full=Onconeuronal antigen Ma2;
DE AltName: Full=Paraneoplastic neuronal antigen MM2;
GN Name=PNMA2; Synonyms=KIAA0883, MA2;
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 [MRNA], AND TISSUE SPECIFICITY.
RC TISSUE=Cerebellum;
RX PubMed=10362822; DOI=10.1056/nejm199906103402303;
RA Voltz R., Gultekin S.H., Rosenfeld M.R., Gerstner E., Eichen J.,
RA Posner J.B., Dalmau J.;
RT "A serologic marker of paraneoplastic limbic and brain-stem encephalitis in
RT patients with testicular cancer.";
RL N. Engl. J. Med. 340:1788-1795(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Brain stem;
RX PubMed=11558790; DOI=10.1002/ana.1288.abs;
RA Rosenfeld M.R., Eichen J.G., Wade D.F., Posner J.B., Dalmau J.;
RT "Molecular and clinical diversity in paraneoplastic immunity to Ma
RT proteins.";
RL Ann. Neurol. 50:339-348(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
RX PubMed=10048485; DOI=10.1093/dnares/5.6.355;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:355-364(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain;
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 [5]
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Brain, and Ovary;
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 [7]
RP PROTEIN SEQUENCE OF 2-11; 20-44; 58-85; 95-122 AND 239-247, CLEAVAGE OF
RP INITIATOR METHIONINE, ACETYLATION AT ALA-2, AND IDENTIFICATION BY MASS
RP SPECTROMETRY.
RC TISSUE=Embryonic kidney;
RA Bienvenut W.V., Waridel P., Quadroni M.;
RL Submitted (MAR-2009) to UniProtKB.
RN [8]
RP IDENTIFICATION, AND SUBCELLULAR LOCATION.
RX PubMed=10050892; DOI=10.1093/brain/122.1.27;
RA Dalmau J., Gultekin S.H., Voltz R., Hoard R., DesChamps T., Balmaceda C.,
RA Batchelor T., Gerstner E., Eichen J., Frennier J., Posner J.B.,
RA Rosenfeld M.R.;
RT "Ma1, a novel neuron- and testis-specific protein, is recognized by the
RT serum of patients with paraneoplastic neurological disorders.";
RL Brain 122:27-39(1999).
RN [9]
RP TISSUE SPECIFICITY.
RX PubMed=19366867; DOI=10.1093/cercor/bhp062;
RA Takaji M., Komatsu Y., Watakabe A., Hashikawa T., Yamamori T.;
RT "Paraneoplastic antigen-like 5 gene (PNMA5) is preferentially expressed in
RT the association areas in a primate specific manner.";
RL Cereb. Cortex 19:2865-2879(2009).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- INTERACTION:
CC Q9UL42; Q13895: BYSL; NbExp=7; IntAct=EBI-302355, EBI-358049;
CC Q9UL42; Q9HC52: CBX8; NbExp=6; IntAct=EBI-302355, EBI-712912;
CC Q9UL42; Q16543: CDC37; NbExp=3; IntAct=EBI-302355, EBI-295634;
CC Q9UL42; Q8NE01: CNNM3; NbExp=3; IntAct=EBI-302355, EBI-741032;
CC Q9UL42; Q9H0I2: ENKD1; NbExp=7; IntAct=EBI-302355, EBI-744099;
CC Q9UL42; Q3B820: FAM161A; NbExp=3; IntAct=EBI-302355, EBI-719941;
CC Q9UL42; Q9NWQ4-1: GPATCH2L; NbExp=3; IntAct=EBI-302355, EBI-11959863;
CC Q9UL42; Q9GZV7: HAPLN2; NbExp=3; IntAct=EBI-302355, EBI-11956675;
CC Q9UL42; Q9C086: INO80B; NbExp=3; IntAct=EBI-302355, EBI-715611;
CC Q9UL42; Q96L50: LRR1; NbExp=3; IntAct=EBI-302355, EBI-2510106;
CC Q9UL42; Q8IVT2: MISP; NbExp=3; IntAct=EBI-302355, EBI-2555085;
CC Q9UL42; Q15014: MORF4L2; NbExp=3; IntAct=EBI-302355, EBI-399257;
CC Q9UL42; P16333: NCK1; NbExp=2; IntAct=EBI-302355, EBI-389883;
CC Q9UL42; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-302355, EBI-741158;
CC Q9UL42; Q13427: PPIG; NbExp=3; IntAct=EBI-302355, EBI-396072;
CC Q9UL42; Q8WWY3: PRPF31; NbExp=6; IntAct=EBI-302355, EBI-1567797;
CC Q9UL42; P25786: PSMA1; NbExp=4; IntAct=EBI-302355, EBI-359352;
CC Q9UL42; A0A0S2Z4G9: RNF6; NbExp=3; IntAct=EBI-302355, EBI-16428950;
CC Q9UL42; O76064: RNF8; NbExp=7; IntAct=EBI-302355, EBI-373337;
CC Q9UL42; P32969: RPL9P9; NbExp=6; IntAct=EBI-302355, EBI-358122;
CC Q9UL42; Q14D33: RTP5; NbExp=3; IntAct=EBI-302355, EBI-10217913;
CC Q9UL42; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-302355, EBI-748391;
CC Q9UL42; O00560: SDCBP; NbExp=7; IntAct=EBI-302355, EBI-727004;
CC Q9UL42; Q9BT49: THAP7; NbExp=3; IntAct=EBI-302355, EBI-741350;
CC Q9UL42; O95985: TOP3B; NbExp=3; IntAct=EBI-302355, EBI-373403;
CC Q9UL42; Q6ZVT0: TTLL10; NbExp=3; IntAct=EBI-302355, EBI-7844656;
CC Q9UL42; Q9H9D4: ZNF408; NbExp=3; IntAct=EBI-302355, EBI-347633;
CC Q9UL42; Q8TAU3: ZNF417; NbExp=4; IntAct=EBI-302355, EBI-740727;
CC Q9UL42; Q96SQ5: ZNF587; NbExp=6; IntAct=EBI-302355, EBI-6427977;
CC Q9UL42; Q96BR6: ZNF669; NbExp=3; IntAct=EBI-302355, EBI-12006574;
CC Q9UL42; A0A0S2Z5X4: ZNF688; NbExp=3; IntAct=EBI-302355, EBI-16429014;
CC Q9UL42; A8K8V0: ZNF785; NbExp=3; IntAct=EBI-302355, EBI-3925400;
CC -!- SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:10050892}.
CC -!- TISSUE SPECIFICITY: Brain-specific. In some cancer patients,
CC specifically expressed by testicular tumor cells.
CC {ECO:0000269|PubMed:10362822, ECO:0000269|PubMed:19366867}.
CC -!- MISCELLANEOUS: Antibodies against PNMA2 are present in sera from
CC patients suffering of paraneoplastic neurological disorders.
CC -!- SIMILARITY: Belongs to the PNMA family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA74906.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AF037365; AAD02098.1; -; mRNA.
DR EMBL; AF083114; AAF05625.1; -; mRNA.
DR EMBL; AF083115; AAF05626.1; -; mRNA.
DR EMBL; AF286487; AAG28165.1; -; mRNA.
DR EMBL; AB020690; BAA74906.2; ALT_INIT; mRNA.
DR EMBL; AK055325; BAG51501.1; -; mRNA.
DR EMBL; CH471080; EAW63575.1; -; Genomic_DNA.
DR EMBL; BC047515; AAH47515.1; -; mRNA.
DR EMBL; BC062301; AAH62301.1; -; mRNA.
DR CCDS; CCDS34868.1; -.
DR RefSeq; NP_009188.1; NM_007257.5.
DR RefSeq; XP_011542667.1; XM_011544365.2.
DR AlphaFoldDB; Q9UL42; -.
DR SMR; Q9UL42; -.
DR BioGRID; 115926; 237.
DR IntAct; Q9UL42; 70.
DR MINT; Q9UL42; -.
DR STRING; 9606.ENSP00000429344; -.
DR iPTMnet; Q9UL42; -.
DR PhosphoSitePlus; Q9UL42; -.
DR BioMuta; PNMA2; -.
DR DMDM; 37999812; -.
DR jPOST; Q9UL42; -.
DR MassIVE; Q9UL42; -.
DR MaxQB; Q9UL42; -.
DR PaxDb; Q9UL42; -.
DR PeptideAtlas; Q9UL42; -.
DR PRIDE; Q9UL42; -.
DR ProteomicsDB; 84944; -.
DR Antibodypedia; 35067; 184 antibodies from 24 providers.
DR DNASU; 10687; -.
DR Ensembl; ENST00000522362.7; ENSP00000429344.1; ENSG00000240694.9.
DR GeneID; 10687; -.
DR KEGG; hsa:10687; -.
DR MANE-Select; ENST00000522362.7; ENSP00000429344.1; NM_007257.6; NP_009188.1.
DR UCSC; uc003xez.3; human.
DR CTD; 10687; -.
DR DisGeNET; 10687; -.
DR GeneCards; PNMA2; -.
DR HGNC; HGNC:9159; PNMA2.
DR HPA; ENSG00000240694; Tissue enhanced (brain, retina).
DR MIM; 603970; gene.
DR neXtProt; NX_Q9UL42; -.
DR OpenTargets; ENSG00000240694; -.
DR PharmGKB; PA33482; -.
DR VEuPathDB; HostDB:ENSG00000240694; -.
DR eggNOG; ENOG502RWTN; Eukaryota.
DR GeneTree; ENSGT01030000234522; -.
DR HOGENOM; CLU_014694_0_0_1; -.
DR InParanoid; Q9UL42; -.
DR OMA; DWCRIMS; -.
DR OrthoDB; 820525at2759; -.
DR PhylomeDB; Q9UL42; -.
DR TreeFam; TF335054; -.
DR PathwayCommons; Q9UL42; -.
DR SignaLink; Q9UL42; -.
DR BioGRID-ORCS; 10687; 13 hits in 1061 CRISPR screens.
DR ChiTaRS; PNMA2; human.
DR GeneWiki; PNMA2; -.
DR GenomeRNAi; 10687; -.
DR Pharos; Q9UL42; Tbio.
DR PRO; PR:Q9UL42; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9UL42; protein.
DR Bgee; ENSG00000240694; Expressed in orbitofrontal cortex and 171 other tissues.
DR Genevisible; Q9UL42; HS.
DR GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell.
DR GO; GO:0043065; P:positive regulation of apoptotic process; ISS:UniProtKB.
DR InterPro; IPR026523; PNMA.
DR InterPro; IPR026525; PNMA2.
DR PANTHER; PTHR23095; PTHR23095; 1.
DR PANTHER; PTHR23095:SF16; PTHR23095:SF16; 1.
DR Pfam; PF14893; PNMA; 1.
PE 1: Evidence at protein level;
KW Acetylation; Direct protein sequencing; Nucleus; Reference proteome;
KW Tumor antigen.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0000269|Ref.7"
FT CHAIN 2..364
FT /note="Paraneoplastic antigen Ma2"
FT /id="PRO_0000155202"
FT REGION 335..364
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 350..364
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0000269|Ref.7"
FT VARIANT 186
FT /note="E -> K (in dbSNP:rs2233701)"
FT /id="VAR_053597"
FT CONFLICT 128..129
FT /note="GV -> AL (in Ref. 1; AAD02098)"
FT /evidence="ECO:0000305"
FT CONFLICT 141
FT /note="L -> I (in Ref. 1; AAD02098)"
FT /evidence="ECO:0000305"
FT CONFLICT 257
FT /note="T -> P (in Ref. 1; AAF05625)"
FT /evidence="ECO:0000305"
FT CONFLICT 278
FT /note="R -> K (in Ref. 1; AAF05626)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 364 AA; 41509 MW; 6E417AD96E3F0E93 CRC64;
MALALLEDWC RIMSVDEQKS LMVTGIPADF EEAEIQEVLQ ETLKSLGRYR LLGKIFRKQE
NANAVLLELL EDTDVSAIPS EVQGKGGVWK VIFKTPNQDT EFLERLNLFL EKEGQTVSGM
FRALGQEGVS PATVPCISPE LLAHLLGQAM AHAPQPLLPM RYRKLRVFSG SAVPAPEEES
FEVWLEQATE IVKEWPVTEA EKKRWLAESL RGPALDLMHI VQADNPSISV EECLEAFKQV
FGSLESRRTA QVRYLKTYQE EGEKVSAYVL RLETLLRRAV EKRAIPRRIA DQVRLEQVMA
GATLNQMLWC RLRELKDQGP PPSFLELMKV IREEEEEEAS FENESIEEPE ERDGYGRWNH
EGDD
