TULP2_HUMAN
ID TULP2_HUMAN Reviewed; 520 AA.
AC O00295; Q8TC50;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 23-SEP-2008, sequence version 2.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Tubby-related protein 2;
DE AltName: Full=Cancer/testis antigen 65;
DE Short=CT65;
DE AltName: Full=Tubby-like protein 2;
GN Name=TULP2; Synonyms=TUBL2;
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], AND TISSUE SPECIFICITY.
RC TISSUE=Brain;
RX PubMed=9096357; DOI=10.1073/pnas.94.7.3128;
RA North M.A., Naggert J.K., Yan Y., Noben-Trauth K., Nishina P.M.;
RT "Molecular characterization of TUB, TULP1, and TULP2, members of the novel
RT tubby gene family and their possible relation to ocular diseases.";
RL Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997).
RN [2]
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
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 TISSUE SPECIFICITY.
RX PubMed=15905330; DOI=10.1073/pnas.0502583102;
RA Chen Y.-T., Scanlan M.J., Venditti C.A., Chua R., Theiler G.,
RA Stevenson B.J., Iseli C., Gure A.O., Vasicek T., Strausberg R.L.,
RA Jongeneel C.V., Old L.J., Simpson A.J.G.;
RT "Identification of cancer/testis-antigen genes by massively parallel
RT signature sequencing.";
RL Proc. Natl. Acad. Sci. U.S.A. 102:7940-7945(2005).
RN [5]
RP VARIANT ILE-149.
RX PubMed=21248752; DOI=10.1038/nature09639;
RA Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H.,
RA Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J.,
RA Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M.,
RA Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L.,
RA Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J.,
RA Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A.,
RA Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K.,
RA Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.;
RT "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene
RT PBRM1 in renal carcinoma.";
RL Nature 469:539-542(2011).
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Secreted {ECO:0000250}.
CC Note=Does not have a cleavable signal peptide and is secreted by a non-
CC conventional pathway. {ECO:0000250}.
CC -!- TISSUE SPECIFICITY: Strongly expressed in testis. Also expressed in
CC retina. Expressed in cancer cell lines. {ECO:0000269|PubMed:15905330,
CC ECO:0000269|PubMed:9096357}.
CC -!- SIMILARITY: Belongs to the TUB family. {ECO:0000305}.
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DR EMBL; U82469; AAB53701.1; -; mRNA.
DR EMBL; CH471177; EAW52410.1; -; Genomic_DNA.
DR EMBL; BC026070; AAH26070.1; -; mRNA.
DR CCDS; CCDS12739.1; -.
DR RefSeq; NP_003314.2; NM_003323.2.
DR AlphaFoldDB; O00295; -.
DR SMR; O00295; -.
DR BioGRID; 113139; 37.
DR IntAct; O00295; 29.
DR STRING; 9606.ENSP00000221399; -.
DR iPTMnet; O00295; -.
DR PhosphoSitePlus; O00295; -.
DR BioMuta; TULP2; -.
DR MassIVE; O00295; -.
DR PaxDb; O00295; -.
DR PeptideAtlas; O00295; -.
DR PRIDE; O00295; -.
DR ProteomicsDB; 47827; -.
DR Antibodypedia; 31829; 188 antibodies from 23 providers.
DR DNASU; 7288; -.
DR Ensembl; ENST00000221399.8; ENSP00000221399.3; ENSG00000104804.8.
DR GeneID; 7288; -.
DR KEGG; hsa:7288; -.
DR MANE-Select; ENST00000221399.8; ENSP00000221399.3; NM_003323.3; NP_003314.2.
DR UCSC; uc002pkz.3; human.
DR CTD; 7288; -.
DR DisGeNET; 7288; -.
DR GeneCards; TULP2; -.
DR HGNC; HGNC:12424; TULP2.
DR HPA; ENSG00000104804; Tissue enriched (testis).
DR MIM; 602309; gene.
DR neXtProt; NX_O00295; -.
DR OpenTargets; ENSG00000104804; -.
DR PharmGKB; PA37086; -.
DR VEuPathDB; HostDB:ENSG00000104804; -.
DR eggNOG; KOG2502; Eukaryota.
DR GeneTree; ENSGT00940000161908; -.
DR HOGENOM; CLU_028236_1_0_1; -.
DR InParanoid; O00295; -.
DR OMA; VCYEPNI; -.
DR OrthoDB; 1445357at2759; -.
DR PhylomeDB; O00295; -.
DR TreeFam; TF314076; -.
DR PathwayCommons; O00295; -.
DR SignaLink; O00295; -.
DR BioGRID-ORCS; 7288; 13 hits in 1091 CRISPR screens.
DR GenomeRNAi; 7288; -.
DR Pharos; O00295; Tdark.
DR PRO; PR:O00295; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; O00295; protein.
DR Bgee; ENSG00000104804; Expressed in sperm and 95 other tissues.
DR ExpressionAtlas; O00295; baseline and differential.
DR Genevisible; O00295; HS.
DR GO; GO:0005929; C:cilium; IBA:GO_Central.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0044877; F:protein-containing complex binding; IDA:MGI.
DR GO; GO:0061512; P:protein localization to cilium; IBA:GO_Central.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR Gene3D; 3.20.90.10; -; 1.
DR InterPro; IPR025659; Tubby-like_C.
DR InterPro; IPR000007; Tubby_C.
DR InterPro; IPR018066; Tubby_C_CS.
DR InterPro; IPR005398; Tubby_N.
DR Pfam; PF01167; Tub; 1.
DR Pfam; PF16322; Tub_N; 1.
DR PRINTS; PR01573; SUPERTUBBY.
DR PRINTS; PR01574; TUBBYPROTEIN.
DR SUPFAM; SSF54518; SSF54518; 1.
DR PROSITE; PS01200; TUB_1; 1.
PE 2: Evidence at transcript level;
KW Cytoplasm; Phosphoprotein; Reference proteome; Secreted.
FT CHAIN 1..520
FT /note="Tubby-related protein 2"
FT /id="PRO_0000186468"
FT REGION 141..236
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 207..224
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 135
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P46686"
FT MOD_RES 190
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P46686"
FT VARIANT 18
FT /note="A -> T (in dbSNP:rs7260579)"
FT /id="VAR_029312"
FT VARIANT 122
FT /note="G -> S (in dbSNP:rs34378208)"
FT /id="VAR_057320"
FT VARIANT 149
FT /note="V -> I (found in a renal cell carcinoma sample;
FT somatic mutation)"
FT /evidence="ECO:0000269|PubMed:21248752"
FT /id="VAR_064760"
FT VARIANT 245
FT /note="E -> K (in dbSNP:rs2270945)"
FT /id="VAR_022136"
FT VARIANT 251
FT /note="D -> N (in dbSNP:rs8112811)"
FT /id="VAR_024679"
FT CONFLICT 341
FT /note="H -> L (in Ref. 1; AAB53701)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 520 AA; 58664 MW; 6876323948101845 CRC64;
MSQDNDTLMR DILGHELAAM RLQKLEQQRR LFEKKQRQKR QELLMVQANP DASPWLWRSC
LREERLLGDR GLGNPFLRKK VSEAHLPSGI HSALGTVSCG GDGRGERGLP TPRTEAVFRN
LGLQSPFLSW LPDNSDAELE EVSVENGSVS PPPFKQSPRI RRKGWQAHQR PGTRAEGESD
SQDMGDAHKS PNMGPNPGMD GDCVYENLAF QKEEDLEKKR EASESTGTNS SAAHNEELSK
ALKGEGGTDS DHMRHEASLA IRSPCPGLEE DMEAYVLRPA LPGTMMQCYL TRDKHGVDKG
LFPLYYLYLE TSDSLQRFLL AGRKRRRSKT SNYLISLDPT HLSRDGDNFV GKVRSNVFST
KFTIFDNGVN PDREHLTRNT ARIRQELGAV CYEPNVLGYL GPRKMTVILP GTNSQNQRIN
VQPLNEQESL LSRYQRGDKQ GLLLLHNKTP SWDKENGVYT LNFHGRVTRA SVKNFQIVDP
KHQEHLVLQF GRVGPDTFTM DFCFPFSPLQ AFSICLSSFN
