TM2D2_HUMAN
ID TM2D2_HUMAN Reviewed; 214 AA.
AC Q9BX73; B2RBK4; D3DSX8; Q8N0X9;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 130.
DE RecName: Full=TM2 domain-containing protein 2;
DE AltName: Full=Beta-amyloid-binding protein-like protein 1;
DE Short=BBP-like protein 1;
DE Flags: Precursor;
GN Name=TM2D2; Synonyms=BLP1;
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] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=11278849; DOI=10.1074/jbc.m011161200;
RA Kajkowski E.M., Lo C.F., Ning X., Walker S., Sofia H.J., Wang W., Edris W.,
RA Chanda P., Wagner E., Vile S., Ryan K., McHendry-Rinde B., Smith S.C.,
RA Wood A., Rhodes K.J., Kennedy J.D., Bard J., Jacobsen J.S.,
RA Ozenberger B.A.;
RT "Beta-amyloid peptide-induced apoptosis regulated by a novel protein
RT containing a G protein activation module.";
RL J. Biol. Chem. 276:18748-18756(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Ovary, and Placenta;
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 MRNA] (ISOFORM 2).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
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 (DEC-2006) to the EMBL/GenBank/DDBJ databases.
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] (ISOFORMS 1 AND 2).
RC TISSUE=Pancreas;
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).
CC -!- INTERACTION:
CC Q9BX73; P29033: GJB2; NbExp=3; IntAct=EBI-7054664, EBI-3905204;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BX73-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BX73-2; Sequence=VSP_027495;
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11278849}.
CC -!- SIMILARITY: Belongs to the TM2 family. {ECO:0000305}.
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DR EMBL; AF353991; AAK35065.1; -; mRNA.
DR EMBL; AK075027; BAC11359.1; -; mRNA.
DR EMBL; AK075155; BAC11437.1; -; mRNA.
DR EMBL; AK314703; BAG37251.1; -; mRNA.
DR EMBL; AL834224; CAH10695.1; -; mRNA.
DR EMBL; CH471080; EAW63286.1; -; Genomic_DNA.
DR EMBL; CH471080; EAW63288.1; -; Genomic_DNA.
DR EMBL; CH471080; EAW63287.1; -; Genomic_DNA.
DR EMBL; BC004878; AAH04878.2; -; mRNA.
DR EMBL; BC109049; AAI09050.1; -; mRNA.
DR EMBL; BC109050; AAI09051.1; -; mRNA.
DR CCDS; CCDS43733.1; -. [Q9BX73-2]
DR CCDS; CCDS6111.1; -. [Q9BX73-1]
DR RefSeq; NP_001019551.1; NM_001024380.1. [Q9BX73-2]
DR RefSeq; NP_001019552.1; NM_001024381.1. [Q9BX73-2]
DR RefSeq; NP_114146.3; NM_031940.3. [Q9BX73-2]
DR RefSeq; NP_510882.1; NM_078473.2. [Q9BX73-1]
DR RefSeq; XP_005273714.1; XM_005273657.3. [Q9BX73-2]
DR RefSeq; XP_006716471.1; XM_006716408.3. [Q9BX73-2]
DR RefSeq; XP_011542969.1; XM_011544667.2. [Q9BX73-2]
DR AlphaFoldDB; Q9BX73; -.
DR SMR; Q9BX73; -.
DR BioGRID; 123790; 31.
DR IntAct; Q9BX73; 15.
DR MINT; Q9BX73; -.
DR STRING; 9606.ENSP00000416050; -.
DR GlyGen; Q9BX73; 1 site.
DR BioMuta; TM2D2; -.
DR DMDM; 74733464; -.
DR EPD; Q9BX73; -.
DR jPOST; Q9BX73; -.
DR MassIVE; Q9BX73; -.
DR MaxQB; Q9BX73; -.
DR PaxDb; Q9BX73; -.
DR PeptideAtlas; Q9BX73; -.
DR PRIDE; Q9BX73; -.
DR ProteomicsDB; 79372; -. [Q9BX73-1]
DR ProteomicsDB; 79373; -. [Q9BX73-2]
DR Antibodypedia; 56606; 33 antibodies from 10 providers.
DR DNASU; 83877; -.
DR Ensembl; ENST00000397070.6; ENSP00000380260.2; ENSG00000169490.17. [Q9BX73-2]
DR Ensembl; ENST00000456397.7; ENSP00000416050.2; ENSG00000169490.17. [Q9BX73-1]
DR Ensembl; ENST00000456845.6; ENSP00000391674.2; ENSG00000169490.17. [Q9BX73-2]
DR GeneID; 83877; -.
DR KEGG; hsa:83877; -.
DR MANE-Select; ENST00000456397.7; ENSP00000416050.2; NM_078473.3; NP_510882.1.
DR UCSC; uc003xmk.4; human. [Q9BX73-1]
DR CTD; 83877; -.
DR DisGeNET; 83877; -.
DR GeneCards; TM2D2; -.
DR HGNC; HGNC:24127; TM2D2.
DR HPA; ENSG00000169490; Low tissue specificity.
DR MIM; 610081; gene.
DR neXtProt; NX_Q9BX73; -.
DR OpenTargets; ENSG00000169490; -.
DR PharmGKB; PA142670799; -.
DR VEuPathDB; HostDB:ENSG00000169490; -.
DR eggNOG; KOG4272; Eukaryota.
DR GeneTree; ENSGT00730000111181; -.
DR HOGENOM; CLU_084872_3_2_1; -.
DR InParanoid; Q9BX73; -.
DR OMA; FLECKEP; -.
DR OrthoDB; 1278556at2759; -.
DR PhylomeDB; Q9BX73; -.
DR TreeFam; TF314896; -.
DR PathwayCommons; Q9BX73; -.
DR SignaLink; Q9BX73; -.
DR BioGRID-ORCS; 83877; 127 hits in 1077 CRISPR screens.
DR ChiTaRS; TM2D2; human.
DR GenomeRNAi; 83877; -.
DR Pharos; Q9BX73; Tdark.
DR PRO; PR:Q9BX73; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q9BX73; protein.
DR Bgee; ENSG00000169490; Expressed in kidney epithelium and 182 other tissues.
DR ExpressionAtlas; Q9BX73; baseline and differential.
DR Genevisible; Q9BX73; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR007829; TM2.
DR Pfam; PF05154; TM2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycoprotein; Membrane; Reference proteome; Signal;
KW Transmembrane; Transmembrane helix.
FT SIGNAL 1..35
FT /evidence="ECO:0000255"
FT CHAIN 36..214
FT /note="TM2 domain-containing protein 2"
FT /id="PRO_0000298982"
FT TRANSMEM 145..165
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 183..203
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 40..59
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 92
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..76
FT /note="MVLGGCPVSYLLLCGQAALLLGNLLLLHCVSRSHSQNATAEPELTSAGAAQP
FT EGPGGAASWEYGDPHSPVILCSYL -> MKKCLLPVLITCMQTAICKDRMMMIMILLVN
FT YR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334, ECO:0000303|PubMed:17974005"
FT /id="VSP_027495"
SQ SEQUENCE 214 AA; 22871 MW; BB928712AF2F78A8 CRC64;
MVLGGCPVSY LLLCGQAALL LGNLLLLHCV SRSHSQNATA EPELTSAGAA QPEGPGGAAS
WEYGDPHSPV ILCSYLPDEF IECEDPVDHV GNATASQELG YGCLKFGGQA YSDVEHTSVQ
CHALDGIECA SPRTFLRENK PCIKYTGHYF ITTLLYSFFL GCFGVDRFCL GHTGTAVGKL
LTLGGLGIWW FVDLILLITG GLMPSDGSNW CTVY
