TM2D1_HUMAN
ID TM2D1_HUMAN Reviewed; 207 AA.
AC Q9BX74; A6NDA8;
DT 21-AUG-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=TM2 domain-containing protein 1;
DE AltName: Full=Amyloid-beta-binding protein;
DE Short=hBBP;
DE Flags: Precursor;
GN Name=TM2D1; Synonyms=BBP;
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], PROTEIN SEQUENCE OF N-TERMINUS, FUNCTION,
RP SUBCELLULAR LOCATION, GLYCOSYLATION, TISSUE SPECIFICITY, AND INTERACTION
RP WITH APP.
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 GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 [4]
RP FUNCTION.
RX PubMed=12836168; DOI=10.1002/jnr.10652;
RA Lee Y., Chang D.-J., Lee Y.-S., Chang K.-A., Kim H., Yoon J.-S., Lee S.,
RA Suh Y.-H., Kaang B.-K.;
RT "Beta-amyloid peptide binding protein does not couple to G protein in a
RT heterologous Xenopus expression system.";
RL J. Neurosci. Res. 73:255-259(2003).
CC -!- FUNCTION: May participate in amyloid-beta-induced apoptosis via its
CC interaction with beta-APP42. {ECO:0000269|PubMed:11278849,
CC ECO:0000269|PubMed:12836168}.
CC -!- SUBUNIT: Interacts with APP beta-APP42 (amyloid-beta protein 42).
CC {ECO:0000269|PubMed:11278849}.
CC -!- INTERACTION:
CC Q9BX74; Q06481-5: APLP2; NbExp=3; IntAct=EBI-25832057, EBI-25646567;
CC Q9BX74; P05067: APP; NbExp=3; IntAct=EBI-25832057, EBI-77613;
CC Q9BX74; P29466-3: CASP1; NbExp=3; IntAct=EBI-25832057, EBI-12248206;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11278849}; Multi-
CC pass membrane protein {ECO:0000269|PubMed:11278849}.
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11278849}.
CC -!- PTM: N-glycosylated. {ECO:0000269|PubMed:11278849}.
CC -!- SIMILARITY: Belongs to the TM2 family. {ECO:0000305}.
CC -!- CAUTION: Was originally (PubMed:11278849) thought to modulate amyloid-
CC beta toxicity by coupling to G protein. However, PubMed:12836168 showed
CC that this effect is not direct. {ECO:0000305|PubMed:11278849}.
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DR EMBL; AF353990; AAK35064.1; -; mRNA.
DR EMBL; AC099791; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029486; AAH29486.1; -; mRNA.
DR CCDS; CCDS65554.1; -.
DR RefSeq; NP_114416.1; NM_032027.2.
DR AlphaFoldDB; Q9BX74; -.
DR BioGRID; 123824; 10.
DR IntAct; Q9BX74; 4.
DR STRING; 9606.ENSP00000475700; -.
DR GlyConnect; 1813; 1 N-Linked glycan (1 site).
DR GlyGen; Q9BX74; 5 sites, 1 N-linked glycan (1 site).
DR iPTMnet; Q9BX74; -.
DR PhosphoSitePlus; Q9BX74; -.
DR BioMuta; TM2D1; -.
DR DMDM; 74752423; -.
DR MassIVE; Q9BX74; -.
DR PaxDb; Q9BX74; -.
DR PeptideAtlas; Q9BX74; -.
DR PRIDE; Q9BX74; -.
DR ProteomicsDB; 79374; -.
DR Antibodypedia; 46902; 66 antibodies from 17 providers.
DR DNASU; 83941; -.
DR Ensembl; ENST00000294613.9; ENSP00000294613.5; ENSG00000162604.12.
DR Ensembl; ENST00000606498.5; ENSP00000475700.1; ENSG00000162604.12.
DR GeneID; 83941; -.
DR KEGG; hsa:83941; -.
DR MANE-Select; ENST00000606498.5; ENSP00000475700.1; NM_032027.3; NP_114416.1.
DR UCSC; uc001czz.1; human.
DR CTD; 83941; -.
DR DisGeNET; 83941; -.
DR GeneCards; TM2D1; -.
DR HGNC; HGNC:24142; TM2D1.
DR HPA; ENSG00000162604; Low tissue specificity.
DR MIM; 610080; gene.
DR neXtProt; NX_Q9BX74; -.
DR OpenTargets; ENSG00000162604; -.
DR PharmGKB; PA142670798; -.
DR VEuPathDB; HostDB:ENSG00000162604; -.
DR eggNOG; KOG4272; Eukaryota.
DR GeneTree; ENSGT00940000157668; -.
DR HOGENOM; CLU_110523_1_0_1; -.
DR InParanoid; Q9BX74; -.
DR OMA; ETFRKPH; -.
DR OrthoDB; 1004046at2759; -.
DR PhylomeDB; Q9BX74; -.
DR PathwayCommons; Q9BX74; -.
DR SignaLink; Q9BX74; -.
DR BioGRID-ORCS; 83941; 67 hits in 1055 CRISPR screens.
DR ChiTaRS; TM2D1; human.
DR GenomeRNAi; 83941; -.
DR Pharos; Q9BX74; Tdark.
DR PRO; PR:Q9BX74; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9BX74; protein.
DR Bgee; ENSG00000162604; Expressed in endothelial cell and 201 other tissues.
DR ExpressionAtlas; Q9BX74; baseline and differential.
DR Genevisible; Q9BX74; HS.
DR GO; GO:0005887; C:integral component of plasma membrane; IEA:Ensembl.
DR GO; GO:0001540; F:amyloid-beta binding; IBA:GO_Central.
DR GO; GO:0004930; F:G protein-coupled receptor activity; IBA:GO_Central.
DR GO; GO:0097190; P:apoptotic signaling pathway; IBA:GO_Central.
DR InterPro; IPR007829; TM2.
DR Pfam; PF05154; TM2; 1.
PE 1: Evidence at protein level;
KW Apoptosis; Direct protein sequencing; Glycoprotein; Membrane;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix.
FT SIGNAL 1..37
FT /evidence="ECO:0000269|PubMed:11278849"
FT CHAIN 38..207
FT /note="TM2 domain-containing protein 1"
FT /id="PRO_5000060231"
FT TRANSMEM 119..136
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 154..174
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 72
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 87
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 96
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 197
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
SQ SEQUENCE 207 AA; 22327 MW; A5590FD7AECDF292 CRC64;
MAAAWPSGPS APEAVTARLV GVLWFVSVTT GPWGAVATSA GGEESLKCED LKVGQYICKD
PKINDATQEP VNCTNYTAHV SCFPAPNITC KDSSGNETHF TGNEVGFFKP ISCRNVNGYS
YKVAVALSLF LGWLGADRFY LGYPALGLLK FCTVGFCGIG SLIDFILISM QIVGPSDGSS
YIIDYYGTRL TRLSITNETF RKTQLYP
