GRIN2_HUMAN
ID GRIN2_HUMAN Reviewed; 458 AA.
AC O60269; Q5SVF0;
DT 15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2006, sequence version 2.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=G protein-regulated inducer of neurite outgrowth 2;
DE Short=GRIN2;
GN Name=GPRIN2; Synonyms=KIAA0514;
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], AND VARIANTS HIS-5; HIS-40; MET-47;
RP ARG-91; GLY-104 AND PRO-400.
RC TISSUE=Brain;
RX PubMed=9628581; DOI=10.1093/dnares/5.1.31;
RA Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N.,
RA Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. IX. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:31-39(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANTS HIS-5; HIS-40; MET-47;
RP ARG-91; GLY-104; ALA-375 AND PRO-400.
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).
RN [4]
RP TISSUE SPECIFICITY, INTERACTION WITH GNAO1 AND GNAZ, AND FUNCTION.
RX PubMed=10480904; DOI=10.1074/jbc.274.38.26931;
RA Chen L.T., Gilman A.G., Kozasa T.;
RT "A candidate target for G protein action in brain.";
RL J. Biol. Chem. 274:26931-26938(1999).
CC -!- FUNCTION: May be involved in neurite outgrowth.
CC {ECO:0000269|PubMed:10480904}.
CC -!- SUBUNIT: Interacts with activated forms of GNAO1 and GNAZ.
CC {ECO:0000269|PubMed:10480904}.
CC -!- INTERACTION:
CC O60269; Q13639: HTR4; NbExp=2; IntAct=EBI-740397, EBI-6656425;
CC O60269; P31947: SFN; NbExp=2; IntAct=EBI-740397, EBI-476295;
CC -!- TISSUE SPECIFICITY: Expressed specifically in the cerebellum.
CC {ECO:0000269|PubMed:10480904}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA25440.2; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB011086; BAA25440.2; ALT_INIT; mRNA.
DR EMBL; AL645529; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC011672; AAH11672.1; -; mRNA.
DR CCDS; CCDS73101.1; -.
DR RefSeq; NP_055511.2; NM_014696.3.
DR RefSeq; XP_005277723.1; XM_005277666.3.
DR RefSeq; XP_011538702.1; XM_011540400.2.
DR AlphaFoldDB; O60269; -.
DR BioGRID; 115070; 28.
DR IntAct; O60269; 10.
DR MINT; O60269; -.
DR STRING; 9606.ENSP00000363436; -.
DR iPTMnet; O60269; -.
DR PhosphoSitePlus; O60269; -.
DR BioMuta; GPRIN2; -.
DR EPD; O60269; -.
DR jPOST; O60269; -.
DR MassIVE; O60269; -.
DR MaxQB; O60269; -.
DR PaxDb; O60269; -.
DR PeptideAtlas; O60269; -.
DR PRIDE; O60269; -.
DR ProteomicsDB; 49301; -.
DR Antibodypedia; 27207; 125 antibodies from 24 providers.
DR DNASU; 9721; -.
DR Ensembl; ENST00000374314.6; ENSP00000363433.4; ENSG00000204175.6.
DR Ensembl; ENST00000374317.2; ENSP00000363436.1; ENSG00000204175.6.
DR GeneID; 9721; -.
DR KEGG; hsa:9721; -.
DR MANE-Select; ENST00000374314.6; ENSP00000363433.4; NM_001385282.1; NP_001372211.1.
DR UCSC; uc057taj.1; human.
DR CTD; 9721; -.
DR DisGeNET; 9721; -.
DR GeneCards; GPRIN2; -.
DR HGNC; HGNC:23730; GPRIN2.
DR HPA; ENSG00000204175; Tissue enhanced (lung, skin).
DR MIM; 611240; gene.
DR neXtProt; NX_O60269; -.
DR OpenTargets; ENSG00000204175; -.
DR PharmGKB; PA162390192; -.
DR VEuPathDB; HostDB:ENSG00000204175; -.
DR eggNOG; ENOG502SG81; Eukaryota.
DR GeneTree; ENSGT00570000079168; -.
DR HOGENOM; CLU_038162_0_0_1; -.
DR InParanoid; O60269; -.
DR OMA; GAGGCCH; -.
DR OrthoDB; 612273at2759; -.
DR PhylomeDB; O60269; -.
DR TreeFam; TF337047; -.
DR PathwayCommons; O60269; -.
DR SignaLink; O60269; -.
DR BioGRID-ORCS; 9721; 36 hits in 1060 CRISPR screens.
DR ChiTaRS; GPRIN2; human.
DR GeneWiki; GPRIN2; -.
DR GenomeRNAi; 9721; -.
DR Pharos; O60269; Tbio.
DR PRO; PR:O60269; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; O60269; protein.
DR Bgee; ENSG00000204175; Expressed in upper lobe of left lung and 77 other tissues.
DR Genevisible; O60269; HS.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0031175; P:neuron projection development; IBA:GO_Central.
DR InterPro; IPR026646; GPRIN2-like/GPRIN3.
DR InterPro; IPR032745; GRIN_C.
DR PANTHER; PTHR15718; PTHR15718; 1.
DR Pfam; PF15235; GRIN_C; 1.
PE 1: Evidence at protein level;
KW Reference proteome.
FT CHAIN 1..458
FT /note="G protein-regulated inducer of neurite outgrowth 2"
FT /id="PRO_0000050759"
FT REGION 1..94
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 118..172
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 17..31
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 41..56
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 120..164
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 5
FT /note="R -> H (in dbSNP:rs3127817)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9628581"
FT /id="VAR_059660"
FT VARIANT 39
FT /note="L -> V (in dbSNP:rs4926045)"
FT /id="VAR_051017"
FT VARIANT 40
FT /note="R -> H (in dbSNP:rs3127818)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9628581"
FT /id="VAR_059661"
FT VARIANT 47
FT /note="V -> M (in dbSNP:rs3127819)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9628581"
FT /id="VAR_059662"
FT VARIANT 91
FT /note="W -> R (in dbSNP:rs3127820)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9628581"
FT /id="VAR_059663"
FT VARIANT 100
FT /note="T -> P (in dbSNP:rs7090312)"
FT /id="VAR_061656"
FT VARIANT 104
FT /note="S -> G (in dbSNP:rs3127679)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9628581"
FT /id="VAR_051018"
FT VARIANT 202
FT /note="G -> W (in dbSNP:rs11204658)"
FT /id="VAR_061657"
FT VARIANT 233
FT /note="A -> S (in dbSNP:rs11204659)"
FT /id="VAR_061658"
FT VARIANT 241
FT /note="V -> M (in dbSNP:rs9422022)"
FT /id="VAR_061659"
FT VARIANT 242
FT /note="R -> G (in dbSNP:rs3127683)"
FT /id="VAR_061660"
FT VARIANT 328
FT /note="S -> C (in dbSNP:rs4445576)"
FT /id="VAR_061661"
FT VARIANT 375
FT /note="V -> A (in dbSNP:rs3127822)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_061662"
FT VARIANT 400
FT /note="L -> P (in dbSNP:rs3127823)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9628581"
FT /id="VAR_059664"
FT CONFLICT 241..242
FT /note="VR -> MREVG (in Ref. 1; BAA25440 and 3; AAH11672)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 458 AA; 47450 MW; D6395C187FAD142D CRC64;
MSSSRPEPGP WAPLSPRLQP LSQSSSSLLG EGREQRPELR KTASSTVWQA QLGEASTRPQ
APEEEGNPPE SMKPARASGP KARPSAGGHW WSSTVGNVST MGGSDLCRLR APSAAAMQRS
HSDLVRSTQM RGHSGARKAS LSCSALGSSP VHRAQLQPGG TSGQGGQAPA GLERDLAPED
ETSNSAWMLG ASQLSVPPLD LGDTTAHSSS AQAEPKAAEQ LATTTCHALP PAALLCGMRE
VRAGGCCHAL PATGILAFPK LVASVSESGL QAQHGVKIHC RLSGGLPGHS HCCAHLWGPA
GLVPEPGSRT KDVWTMTSAN DLAPAEASPL SAQDAGVQAA PVAACKAVAT SPSLEAPAAL
HVFPEVTLGS SLEEVPSPVR DVRWDAEGMT WEVYGAAVDL EVLGVAIQKH LEMQFEQLQR
APASEDSLSV EGRRGPLRAV MQSLRRPSCC GCSGAAPE
