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Protein

Tubby-related protein 2

Gene

TULP2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  • phosphatidylinositol binding Source: GO_Central
  • protein complex binding Source: MGI

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Tubby-related protein 2
Alternative name(s):
Cancer/testis antigen 65
Short name:
CT65
Tubby-like protein 2
Gene namesi
Name:TULP2
Synonyms:TUBL2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:12424. TULP2.

Subcellular locationi

  • Cytoplasm By similarity
  • Secreted By similarity

  • Note: Does not have a cleavable signal peptide and is secreted by a non-conventional pathway.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Secreted

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37086.

Polymorphism and mutation databases

BioMutaiTULP2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 520520Tubby-related protein 2PRO_0000186468Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei135 – 1351PhosphoserineBy similarity
Modified residuei190 – 1901PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiO00295.
PRIDEiO00295.

PTM databases

iPTMnetiO00295.
PhosphoSiteiO00295.

Expressioni

Tissue specificityi

Strongly expressed in testis. Also expressed in retina. Expressed in cancer cell lines.2 Publications

Gene expression databases

BgeeiO00295.
CleanExiHS_TULP2.
ExpressionAtlasiO00295. baseline and differential.
GenevisibleiO00295. HS.

Organism-specific databases

HPAiHPA046256.

Interactioni

GO - Molecular functioni

  • protein complex binding Source: MGI

Protein-protein interaction databases

BioGridi113139. 32 interactions.
IntActiO00295. 3 interactions.
MINTiMINT-1444412.
STRINGi9606.ENSP00000221399.

Structurei

3D structure databases

ProteinModelPortaliO00295.
SMRiO00295. Positions 270-520.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TUB family.Curated

Phylogenomic databases

eggNOGiKOG2502. Eukaryota.
ENOG410XQFT. LUCA.
GeneTreeiENSGT00610000085970.
HOGENOMiHOG000016044.
HOVERGENiHBG018010.
InParanoidiO00295.
OMAiNPERKNF.
OrthoDBiEOG77HDDQ.
PhylomeDBiO00295.
TreeFamiTF314076.

Family and domain databases

Gene3Di3.20.90.10. 1 hit.
InterProiIPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR018066. Tubby_C_CS.
IPR005398. Tubby_N.
[Graphical view]
PfamiPF01167. Tub. 1 hit.
PF16322. Tub_N. 1 hit.
[Graphical view]
PRINTSiPR01573. SUPERTUBBY.
PR01574. TUBBYPROTEIN.
SUPFAMiSSF54518. SSF54518. 1 hit.
PROSITEiPS01200. TUB_1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O00295-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSQDNDTLMR DILGHELAAM RLQKLEQQRR LFEKKQRQKR QELLMVQANP
60 70 80 90 100
DASPWLWRSC LREERLLGDR GLGNPFLRKK VSEAHLPSGI HSALGTVSCG
110 120 130 140 150
GDGRGERGLP TPRTEAVFRN LGLQSPFLSW LPDNSDAELE EVSVENGSVS
160 170 180 190 200
PPPFKQSPRI RRKGWQAHQR PGTRAEGESD SQDMGDAHKS PNMGPNPGMD
210 220 230 240 250
GDCVYENLAF QKEEDLEKKR EASESTGTNS SAAHNEELSK ALKGEGGTDS
260 270 280 290 300
DHMRHEASLA IRSPCPGLEE DMEAYVLRPA LPGTMMQCYL TRDKHGVDKG
310 320 330 340 350
LFPLYYLYLE TSDSLQRFLL AGRKRRRSKT SNYLISLDPT HLSRDGDNFV
360 370 380 390 400
GKVRSNVFST KFTIFDNGVN PDREHLTRNT ARIRQELGAV CYEPNVLGYL
410 420 430 440 450
GPRKMTVILP GTNSQNQRIN VQPLNEQESL LSRYQRGDKQ GLLLLHNKTP
460 470 480 490 500
SWDKENGVYT LNFHGRVTRA SVKNFQIVDP KHQEHLVLQF GRVGPDTFTM
510 520
DFCFPFSPLQ AFSICLSSFN
Length:520
Mass (Da):58,664
Last modified:September 23, 2008 - v2
Checksum:i6876323948101845
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti341 – 3411H → L in AAB53701 (PubMed:9096357).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti18 – 181A → T.
Corresponds to variant rs7260579 [ dbSNP | Ensembl ].
VAR_029312
Natural varianti122 – 1221G → S.
Corresponds to variant rs34378208 [ dbSNP | Ensembl ].
VAR_057320
Natural varianti149 – 1491V → I Found in a renal cell carcinoma sample; somatic mutation. 1 Publication
VAR_064760
Natural varianti245 – 2451E → K.
Corresponds to variant rs2270945 [ dbSNP | Ensembl ].
VAR_022136
Natural varianti251 – 2511D → N.
Corresponds to variant rs8112811 [ dbSNP | Ensembl ].
VAR_024679

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U82469 mRNA. Translation: AAB53701.1.
CH471177 Genomic DNA. Translation: EAW52410.1.
BC026070 mRNA. Translation: AAH26070.1.
CCDSiCCDS12739.1.
RefSeqiNP_003314.2. NM_003323.2.
UniGeneiHs.104636.

Genome annotation databases

EnsembliENST00000221399; ENSP00000221399; ENSG00000104804.
GeneIDi7288.
KEGGihsa:7288.
UCSCiuc002pkz.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U82469 mRNA. Translation: AAB53701.1.
CH471177 Genomic DNA. Translation: EAW52410.1.
BC026070 mRNA. Translation: AAH26070.1.
CCDSiCCDS12739.1.
RefSeqiNP_003314.2. NM_003323.2.
UniGeneiHs.104636.

3D structure databases

ProteinModelPortaliO00295.
SMRiO00295. Positions 270-520.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113139. 32 interactions.
IntActiO00295. 3 interactions.
MINTiMINT-1444412.
STRINGi9606.ENSP00000221399.

PTM databases

iPTMnetiO00295.
PhosphoSiteiO00295.

Polymorphism and mutation databases

BioMutaiTULP2.

Proteomic databases

PaxDbiO00295.
PRIDEiO00295.

Protocols and materials databases

DNASUi7288.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221399; ENSP00000221399; ENSG00000104804.
GeneIDi7288.
KEGGihsa:7288.
UCSCiuc002pkz.3. human.

Organism-specific databases

CTDi7288.
GeneCardsiTULP2.
H-InvDBHIX0015306.
HGNCiHGNC:12424. TULP2.
HPAiHPA046256.
MIMi602309. gene.
neXtProtiNX_O00295.
PharmGKBiPA37086.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2502. Eukaryota.
ENOG410XQFT. LUCA.
GeneTreeiENSGT00610000085970.
HOGENOMiHOG000016044.
HOVERGENiHBG018010.
InParanoidiO00295.
OMAiNPERKNF.
OrthoDBiEOG77HDDQ.
PhylomeDBiO00295.
TreeFamiTF314076.

Miscellaneous databases

GenomeRNAii7288.
PROiO00295.
SOURCEiSearch...

Gene expression databases

BgeeiO00295.
CleanExiHS_TULP2.
ExpressionAtlasiO00295. baseline and differential.
GenevisibleiO00295. HS.

Family and domain databases

Gene3Di3.20.90.10. 1 hit.
InterProiIPR000007. Tubby_C.
IPR025659. Tubby_C-like.
IPR018066. Tubby_C_CS.
IPR005398. Tubby_N.
[Graphical view]
PfamiPF01167. Tub. 1 hit.
PF16322. Tub_N. 1 hit.
[Graphical view]
PRINTSiPR01573. SUPERTUBBY.
PR01574. TUBBYPROTEIN.
SUPFAMiSSF54518. SSF54518. 1 hit.
PROSITEiPS01200. TUB_1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases."
    North M.A., Naggert J.K., Yan Y., Noben-Trauth K., Nishina P.M.
    Proc. Natl. Acad. Sci. U.S.A. 94:3128-3133(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Tissue: Brain.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  4. Cited for: TISSUE SPECIFICITY.
  5. Cited for: VARIANT ILE-149.

Entry informationi

Entry nameiTULP2_HUMAN
AccessioniPrimary (citable) accession number: O00295
Secondary accession number(s): Q8TC50
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: September 23, 2008
Last modified: June 8, 2016
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.