GARE2_HUMAN
ID GARE2_HUMAN Reviewed; 874 AA.
AC Q75VX8; B5MC97; B7WNK9; Q8NF27; Q9UIK8;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 09-FEB-2010, sequence version 3.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=GRB2-associated and regulator of MAPK protein 2;
DE AltName: Full=GRB2-associated and regulator of MAPK1-like;
GN Name=GAREM2; Synonyms=FAM59B, GAREML, KIAA2038; ORFNames=HRIHFB2063;
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 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 34-874 (ISOFORM 2).
RC TISSUE=Spleen;
RA Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.;
RT "The nucleotide sequence of a long cDNA clone isolated from human spleen.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Brain;
RA Nagase T., Kikuno R., Ohara O.;
RT "The nucleotide sequence of a long cDNA clone isolated from human.";
RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
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 MRNA] OF 473-874 (ISOFORM 2).
RC TISSUE=Fetal brain;
RX PubMed=9853615; DOI=10.1038/4315;
RA Ueki N., Oda T., Kondo M., Yano K., Noguchi T., Muramatsu M.-A.;
RT "Selection system for genes encoding nuclear-targeted proteins.";
RL Nat. Biotechnol. 16:1338-1342(1998).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-735, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Probable adapter protein that may provide a link between cell
CC surface epidermal growth factor receptor and the MAPK/ERK signaling
CC pathway. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q75VX8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q75VX8-2; Sequence=VSP_034201;
CC Name=3;
CC IsoId=Q75VX8-3; Sequence=VSP_047321, VSP_047322, VSP_034201;
CC -!- SIMILARITY: Belongs to the GAREM family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC03435.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAC99057.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AB124552; BAC99057.1; ALT_INIT; mRNA.
DR EMBL; AC011742; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK090454; BAC03435.1; ALT_INIT; mRNA.
DR EMBL; AB015349; BAA88120.1; -; mRNA.
DR CCDS; CCDS54336.1; -. [Q75VX8-1]
DR CCDS; CCDS54337.1; -. [Q75VX8-3]
DR RefSeq; NP_001161713.1; NM_001168241.1. [Q75VX8-1]
DR RefSeq; NP_001177962.1; NM_001191033.1. [Q75VX8-3]
DR RefSeq; XP_006712014.1; XM_006711951.3. [Q75VX8-2]
DR AlphaFoldDB; Q75VX8; -.
DR SMR; Q75VX8; -.
DR BioGRID; 127333; 8.
DR IntAct; Q75VX8; 1.
DR STRING; 9606.ENSP00000384593; -.
DR iPTMnet; Q75VX8; -.
DR PhosphoSitePlus; Q75VX8; -.
DR BioMuta; GAREM2; -.
DR DMDM; 288558847; -.
DR EPD; Q75VX8; -.
DR jPOST; Q75VX8; -.
DR MassIVE; Q75VX8; -.
DR PaxDb; Q75VX8; -.
DR PeptideAtlas; Q75VX8; -.
DR PRIDE; Q75VX8; -.
DR ProteomicsDB; 6266; -.
DR ProteomicsDB; 68654; -. [Q75VX8-1]
DR ProteomicsDB; 68655; -. [Q75VX8-2]
DR Antibodypedia; 57056; 71 antibodies from 19 providers.
DR DNASU; 150946; -.
DR Ensembl; ENST00000401533.7; ENSP00000384593.1; ENSG00000157833.13. [Q75VX8-1]
DR Ensembl; ENST00000407684.1; ENSP00000384581.1; ENSG00000157833.13. [Q75VX8-3]
DR GeneID; 150946; -.
DR KEGG; hsa:150946; -.
DR MANE-Select; ENST00000401533.7; ENSP00000384593.1; NM_001168241.2; NP_001161713.1.
DR UCSC; uc002rgw.2; human. [Q75VX8-1]
DR CTD; 150946; -.
DR DisGeNET; 150946; -.
DR GeneCards; GAREM2; -.
DR HGNC; HGNC:27172; GAREM2.
DR HPA; ENSG00000157833; Group enriched (brain, choroid plexus, parathyroid gland).
DR MalaCards; GAREM2; -.
DR MIM; 617999; gene.
DR neXtProt; NX_Q75VX8; -.
DR OpenTargets; ENSG00000157833; -.
DR PharmGKB; PA142671865; -.
DR VEuPathDB; HostDB:ENSG00000157833; -.
DR eggNOG; ENOG502QQU8; Eukaryota.
DR GeneTree; ENSGT00530000063834; -.
DR HOGENOM; CLU_014784_0_0_1; -.
DR InParanoid; Q75VX8; -.
DR OMA; PLFKPSH; -.
DR OrthoDB; 288834at2759; -.
DR PhylomeDB; Q75VX8; -.
DR TreeFam; TF329726; -.
DR PathwayCommons; Q75VX8; -.
DR SignaLink; Q75VX8; -.
DR BioGRID-ORCS; 150946; 17 hits in 1077 CRISPR screens.
DR ChiTaRS; GAREM2; human.
DR GenomeRNAi; 150946; -.
DR Pharos; Q75VX8; Tdark.
DR PRO; PR:Q75VX8; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q75VX8; protein.
DR Bgee; ENSG00000157833; Expressed in ventricular zone and 126 other tissues.
DR Genevisible; Q75VX8; HS.
DR Gene3D; 1.10.150.50; -; 1.
DR InterPro; IPR025946; CABIT_dom.
DR InterPro; IPR013761; SAM/pointed_sf.
DR Pfam; PF12736; CABIT; 1.
DR SUPFAM; SSF47769; SSF47769; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..874
FT /note="GRB2-associated and regulator of MAPK protein 2"
FT /id="PRO_0000340253"
FT DOMAIN 807..871
FT /note="SAM"
FT REGION 12..339
FT /note="CABIT"
FT REGION 188..207
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 388..422
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 437..545
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 563..598
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 625..742
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 460..474
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 515..545
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 645..660
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 675..695
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 735
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..77
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_047321"
FT VAR_SEQ 78..83
FT /note="DIPLQY -> MHRMPD (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_047322"
FT VAR_SEQ 562..694
FT /note="Missing (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:9853615, ECO:0000303|Ref.1"
FT /id="VSP_034201"
FT CONFLICT 407
FT /note="Q -> R (in Ref. 1; BAC03435)"
FT /evidence="ECO:0000305"
FT CONFLICT 473..475
FT /note="KSE -> DAW (in Ref. 4; BAA88120)"
FT /evidence="ECO:0000305"
FT CONFLICT 733
FT /note="R -> P (in Ref. 1; BAC03435)"
FT /evidence="ECO:0000305"
FT CONFLICT 819
FT /note="R -> G (in Ref. 1; BAC03435)"
FT /evidence="ECO:0000305"
FT CONFLICT 864
FT /note="M -> I (in Ref. 1; BAC03435)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 874 AA; 92882 MW; C5B7536971763523 CRC64;
MEKLAAGLAG LRWSMGAFPL DLIVSRCRLP TLACLGPGEY AEGVSERDIL LIHSCRQWTT
VTAHTLEEGH YVIGPKIDIP LQYPGKFKLL EQARDVREPV RYFSSVEEVA SVFPDRIFVM
EAITFSVKVV SGEFSEDSEV YNFTLHAGDE LTLMGQAEIL CAKTTKERSR FTTLLRKLGR
AGALAGVGGG GPASAGAAGG TGGGGARPVK GKMPCLICMN HRTNESLSLP FQCQGRFSTR
SPLELQMQEG EHTVRAIIER VRLPVNVLVP SRPPRNPYDL HPVREGHCYK LVSIISKTVV
LGLALRREGP APLHFLLLTD TPRFALPQGL LAGDPRVERL VRDSASYCRE RFDPDEYSTA
VREAPAELAE DCASPRRARL CLPAPRAPGL ARAPGPLAPA PAGEGDQEYV SPDWAAAPEP
AAPPAEIPYE ELWAHQGPEG LVRPPPGLDL ISFGAAGPPR REPEAPPPPV PPKSEAVKEE
CRLLNAPPVP PRGGNGSGRL SSSPPVPPRF PKLQPVHSPS SSLSYYSSGL QDGAGSRSGS
GSPSPDTYSL YCYPCTWGDC KVGESSSRPA PGPLPSTTQP SQASRALTEP LSGRAASLLG
ADTPVKTYHS CPPLFKPSHP QKRFAPFGAL NPFSGPAYPS GPSAALSSGP RTTSGPVATS
GPAYSPGPAS PGQAYSAAPP SSCAPSSSSS SEWQEPVLEP FDPFELGQGS SPEPELLRSQ
EPRAVGTPGP GPRLSPLGPS KAFEPEGLVL HQVPTPLSPA ALQGPEAGGA LFLTQGRLEG
PPASPRDGAT GFGVRDASSW QPPADLSALS LEEVSRSLRF IGLSEDVVSF FARERIDGSI
FVQLSEDILA DDFHLTKLQV KKIMQFIKGW RPKI
