PRAM2_HUMAN
ID PRAM2_HUMAN Reviewed; 474 AA.
AC O60811;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 01-JAN-1999, sequence version 2.
DT 03-AUG-2022, entry version 126.
DE RecName: Full=PRAME family member 2 {ECO:0000312|HGNC:HGNC:28841};
GN Name=PRAMEF2 {ECO:0000312|HGNC:HGNC:28841};
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].
RA Rhodes S.;
RL Submitted (APR-1999) to the EMBL/GenBank/DDBJ databases.
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].
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 -!- SIMILARITY: Belongs to the PRAME family. {ECO:0000305}.
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DR EMBL; AL049674; CAB41247.1; -; mRNA.
DR EMBL; AL022101; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC075008; AAH75008.1; -; mRNA.
DR EMBL; BC075009; AAH75009.1; -; mRNA.
DR CCDS; CCDS149.1; -.
DR RefSeq; NP_075390.1; NM_023014.1.
DR AlphaFoldDB; O60811; -.
DR SMR; O60811; -.
DR STRING; 9606.ENSP00000240189; -.
DR iPTMnet; O60811; -.
DR PhosphoSitePlus; O60811; -.
DR BioMuta; PRAMEF2; -.
DR MassIVE; O60811; -.
DR MaxQB; O60811; -.
DR PaxDb; O60811; -.
DR PeptideAtlas; O60811; -.
DR PRIDE; O60811; -.
DR ProteomicsDB; 49604; -.
DR Antibodypedia; 65449; 66 antibodies from 13 providers.
DR DNASU; 65122; -.
DR Ensembl; ENST00000240189.2; ENSP00000240189.2; ENSG00000120952.4.
DR Ensembl; ENST00000632257.1; ENSP00000487743.1; ENSG00000282817.1.
DR GeneID; 65122; -.
DR KEGG; hsa:65122; -.
DR MANE-Select; ENST00000240189.2; ENSP00000240189.2; NM_023014.1; NP_075390.1.
DR UCSC; uc001aum.1; human.
DR CTD; 65122; -.
DR GeneCards; PRAMEF2; -.
DR HGNC; HGNC:28841; PRAMEF2.
DR HPA; ENSG00000120952; Not detected.
DR neXtProt; NX_O60811; -.
DR OpenTargets; ENSG00000120952; -.
DR PharmGKB; PA142671139; -.
DR VEuPathDB; HostDB:ENSG00000120952; -.
DR eggNOG; ENOG502QWSJ; Eukaryota.
DR GeneTree; ENSGT01030000234531; -.
DR HOGENOM; CLU_039635_2_1_1; -.
DR InParanoid; O60811; -.
DR OMA; LEIHNTC; -.
DR OrthoDB; 631249at2759; -.
DR PhylomeDB; O60811; -.
DR TreeFam; TF332708; -.
DR PathwayCommons; O60811; -.
DR BioGRID-ORCS; 65122; 17 hits in 1041 CRISPR screens.
DR GenomeRNAi; 65122; -.
DR Pharos; O60811; Tdark.
DR PRO; PR:O60811; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O60811; protein.
DR Genevisible; O60811; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IEA:InterPro.
DR GO; GO:0045596; P:negative regulation of cell differentiation; IEA:InterPro.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IEA:InterPro.
DR GO; GO:0008284; P:positive regulation of cell population proliferation; IEA:InterPro.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR032675; LRR_dom_sf.
DR InterPro; IPR026271; PRAME_family.
DR PIRSF; PIRSF038286; PRAME; 1.
PE 2: Evidence at transcript level;
KW Leucine-rich repeat; Reference proteome; Repeat.
FT CHAIN 1..474
FT /note="PRAME family member 2"
FT /id="PRO_0000156976"
FT REPEAT 97..124
FT /note="LRR 1; degenerate"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 179..203
FT /note="LRR 2; degenerate"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 204..230
FT /note="LRR 3; degenerate"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 231..265
FT /note="LRR 4; degenerate"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 266..291
FT /note="LRR 5"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 292..323
FT /note="LRR 6"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 324..342
FT /note="LRR 7"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 348..375
FT /note="LRR 8"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT REPEAT 376..400
FT /note="LRR 9"
FT /evidence="ECO:0000250|UniProtKB:Q3UWY1"
FT VARIANT 33
FT /note="R -> S (in dbSNP:rs9661554)"
FT /id="VAR_060093"
FT VARIANT 67
FT /note="V -> G (in dbSNP:rs3204790)"
FT /id="VAR_034400"
FT VARIANT 68
FT /note="S -> W (in dbSNP:rs17038657)"
FT /id="VAR_034401"
FT VARIANT 72
FT /note="T -> R (in dbSNP:rs9659529)"
FT /id="VAR_034402"
FT VARIANT 83
FT /note="E -> K (in dbSNP:rs9728577)"
FT /id="VAR_053606"
FT VARIANT 128
FT /note="A -> T (in dbSNP:rs142476002)"
FT /id="VAR_034403"
FT VARIANT 141
FT /note="T -> M (in dbSNP:rs17038667)"
FT /id="VAR_034404"
FT VARIANT 225
FT /note="Y -> C (in dbSNP:rs3204805)"
FT /id="VAR_034405"
FT VARIANT 233
FT /note="T -> N (in dbSNP:rs17038692)"
FT /id="VAR_034406"
FT VARIANT 301
FT /note="T -> A (in dbSNP:rs12139546)"
FT /id="VAR_034407"
FT VARIANT 302
FT /note="C -> Y (in dbSNP:rs17404799)"
FT /id="VAR_034408"
FT VARIANT 304
FT /note="N -> Y (in dbSNP:rs1063784)"
FT /id="VAR_034409"
FT VARIANT 308
FT /note="E -> G (in dbSNP:rs12139550)"
FT /id="VAR_034410"
FT VARIANT 310
FT /note="L -> M (in dbSNP:rs1063787)"
FT /id="VAR_034411"
FT VARIANT 316
FT /note="F -> Y (in dbSNP:rs1063788)"
FT /id="VAR_034412"
FT VARIANT 375
FT /note="C -> R (in dbSNP:rs1063796)"
FT /id="VAR_034413"
SQ SEQUENCE 474 AA; 54872 MW; 77EEACD6FE68594E CRC64;
MSIQAPPRLL ELAGQSLLRD QALSISAMEE LPRVLYLPLF REAFSRRHFQ TLTVMVQAWP
FTCLPLVSLM KTLHLEPLKA LLEGLHMLLT QKDRPRRWKL QVLDLRDVDE NFWARWPGAW
ALSCFPEAMS KRQTAEDCPR TGEHQPLKVF IDICLKEIPQ DECLRYLFQW VYQRRGLVHL
CCSKLVNYLT PIKYLRKSLK IIYINSIGEL EIHNTCWPHL IRKLYCYLKE MKTLCKLVFS
RCHHYTSDNE LEGWLVTRFT SVFLRLEHLQ LLKIKLITFF SGHLEQLIRC LQNPLENLEL
TCGNLLEEDL KCLSQFPSLG YLKHLNLSYV LLFRISLEPL GALLEKIAAS LETLVLEGCQ
IHYSQLSAIL PGLSCCSQLT TFYFGSNCMS IDALKDLLRH TSGLSKLSLE TYPAPEESLN
SLVRVNWEIF TPLRAELMCT LREFRQPKRI FIGPTPCPSC GSSPSEELEL HLCC