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Protein

Protein SSX2

Gene

SSX2

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

Functioni

Could act as a modulator of transcription.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Protein SSX2
Alternative name(s):
Cancer/testis antigen 5.2
Short name:
CT5.2
Synovial sarcoma, X breakpoint 2
Tumor antigen HOM-MEL-40
Gene namesi
Name:SSX2
Synonyms:SSX2A
AND
Name:SSX2B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:11336. SSX2.
HGNC:22263. SSX2B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving SSX2 may be a cause of synovial sarcoma. Translocation t(X;18)(p11.2;q11.2). The translocation is specifically found in more than 80% of synovial sarcoma. The fusion products SSXT-SSX1 or SSXT-SSX2 are probably responsible for transforming activity. Heterogeneity in the position of the breakpoint can occur (low frequency).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei68 – 692Breakpoint for translocation to form the SSXT-SSX2 fusion protein (rare)
Sitei110 – 1112Breakpoint for translocation to form the SSXT-SSX2 fusion protein

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

MalaCardsiSSX2.
Orphaneti3273. Synovial sarcoma.
PharmGKBiPA162404839.

Polymorphism and mutation databases

DMDMi3915028.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 188188Protein SSX2PRO_0000181829Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei108 – 1081PhosphoserineCombined sources
Modified residuei123 – 1231PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ16385.
PaxDbiQ16385.
PeptideAtlasiQ16385.
PRIDEiQ16385.

PTM databases

iPTMnetiQ16385.
PhosphoSiteiQ16385.

Expressioni

Tissue specificityi

Expressed at high level in the testis. Expressed at low level in thyroid. Not detected in tonsil, colon, lung, spleen, prostate, kidney, striated and smooth muscles. Detected in rhabdomyosarcoma and fibrosarcoma cell lines. Not detected in mesenchymal and epithelial cell lines.

Gene expression databases

BgeeiENSG00000157950.
CleanExiHS_SSX2.
ExpressionAtlasiQ16385. baseline.
GenevisibleiQ16385. HS.

Organism-specific databases

HPAiCAB046020.
HPA045683.

Interactioni

Subunit structurei

Interacts via its N-terminal region with RAB3IP and SSX2IP.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
AKAP9Q99996-23EBI-2210673,EBI-9641546
BLZF1Q9H2G93EBI-2210673,EBI-2548012
KRT40Q6A1623EBI-2210673,EBI-10171697
MAGEC2Q9UBF13EBI-2210673,EBI-5651487
RAB3IPQ96QF04EBI-2210673,EBI-747844
RAB3IPQ96QF0-24EBI-2210673,EBI-747865
SSX2IPQ9Y2D88EBI-2210673,EBI-2212028
SYCE1Q8N0S23EBI-2210673,EBI-6872807
TAX1BP1Q86VP13EBI-2210673,EBI-529518
ZBED1O960063EBI-2210673,EBI-740037
ZMIZ2Q8NF64-23EBI-2210673,EBI-10182121

Protein-protein interaction databases

BioGridi112635. 33 interactions.
608281. 2 interactions.
IntActiQ16385. 10 interactions.
MINTiMINT-237154.
STRINGi9606.ENSP00000364665.

Structurei

3D structure databases

ProteinModelPortaliQ16385.
SMRiQ16385. Positions 19-69.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini20 – 8364KRAB-relatedPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 8080Interaction with SSX2IPAdd
BLAST
Regioni25 – 8056Interaction with RAB3IPAdd
BLAST

Sequence similaritiesi

Belongs to the SSX family.Curated
Contains 1 KRAB-related domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410JCMU. Eukaryota.
ENOG4111A52. LUCA.
GeneTreeiENSGT00390000012484.
HOGENOMiHOG000231461.
HOVERGENiHBG002056.
InParanoidiQ16385.
KOiK15625.
OMAiASGPQNH.
OrthoDBiEOG091G0NPV.
PhylomeDBiQ16385.
TreeFamiTF338517.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
InterProiIPR001909. KRAB.
IPR003655. Krueppel-associated_box-rel.
IPR028804. SSX.
IPR019041. SSXRD_motif.
[Graphical view]
PANTHERiPTHR14112. PTHR14112. 1 hit.
PfamiPF01352. KRAB. 1 hit.
PF09514. SSXRD. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50806. KRAB_RELATED. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q16385-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNGDDAFARR PTVGAQIPEK IQKAFDDIAK YFSKEEWEKM KASEKIFYVY
60 70 80 90 100
MKRKYEAMTK LGFKATLPPF MCNKRAEDFQ GNDLDNDPNR GNQVERPQMT
110 120 130 140 150
FGRLQGISPK IMPKKPAEEG NDSEEVPEAS GPQNDGKELC PPGKPTTSEK
160 170 180
IHERSGPKRG EHAWTHRLRE RKQLVIYEEI SDPEEDDE
Length:188
Mass (Da):21,620
Last modified:December 15, 1998 - v2
Checksum:iBF5D18AA5F45B1B1
GO
Isoform 2 (identifier: Q16385-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     157-188: PKRGEHAWTHRLRERKQLVIYEEISDPEEDDE → NREAQEKEER...PTDCVRENSW

Note: No experimental confirmation available.
Show »
Length:223
Mass (Da):25,173
Checksum:i2BF8E1FFA4D58094
GO

Sequence cautioni

The sequence AAB35674 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti169 – 1691R → P in AAH07343 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei157 – 18832PKRGE…EEDDE → NREAQEKEERRGTAHRWSSQ NTHNIGRFSLSTSMGAVHGT PKTITHNRDPKGGNMPGPTD CVRENSW in isoform 2. 1 PublicationVSP_017595Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X86175 mRNA. Translation: CAA60111.1.
AL450023 Genomic DNA. Translation: CAI41151.1.
AL450023 Genomic DNA. Translation: CAI41152.1.
AL445236, AL450023 Genomic DNA. Translation: CAI41623.1.
AL445236, AL450023 Genomic DNA. Translation: CAI41624.1.
AL450023, AL445236 Genomic DNA. Translation: CAI41157.1.
AL450023, AL445236 Genomic DNA. Translation: CAI41158.1.
BC002818 mRNA. Translation: AAH02818.1.
BC007343 mRNA. Translation: AAH07343.1.
BC016957 mRNA. Translation: AAH16957.1.
BC069313 mRNA. Translation: AAH69313.1.
BC071827 mRNA. Translation: AAH71827.1.
BC103863 mRNA. Translation: AAI03864.1.
S79332 mRNA. Translation: AAB35379.1.
X79200 mRNA. No translation available.
S79894 mRNA. Translation: AAB35674.1. Different initiation.
CCDSiCCDS14344.2. [Q16385-1]
CCDS14345.2. [Q16385-2]
CCDS48129.1. [Q16385-1]
CCDS65267.1. [Q16385-2]
PIRiS55058.
RefSeqiNP_001157889.1. NM_001164417.2. [Q16385-1]
NP_001265626.1. NM_001278697.1.
NP_001265630.1. NM_001278701.1. [Q16385-2]
NP_001265631.1. NM_001278702.1.
NP_003138.3. NM_003147.5. [Q16385-2]
NP_783629.1. NM_175698.2. [Q16385-1]
UniGeneiHs.289105.
Hs.661107.

Genome annotation databases

EnsembliENST00000336777; ENSP00000338796; ENSG00000241476. [Q16385-2]
ENST00000337502; ENSP00000338561; ENSG00000241476. [Q16385-1]
ENST00000596480; ENSP00000470740; ENSG00000268447. [Q16385-1]
ENST00000612490; ENSP00000477922; ENSG00000268447. [Q16385-2]
ENST00000616191; ENSP00000478714; ENSG00000268447. [Q16385-1]
GeneIDi6757.
727837.
KEGGihsa:6757.
hsa:727837.
UCSCiuc004dqy.3. human. [Q16385-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X86175 mRNA. Translation: CAA60111.1.
AL450023 Genomic DNA. Translation: CAI41151.1.
AL450023 Genomic DNA. Translation: CAI41152.1.
AL445236, AL450023 Genomic DNA. Translation: CAI41623.1.
AL445236, AL450023 Genomic DNA. Translation: CAI41624.1.
AL450023, AL445236 Genomic DNA. Translation: CAI41157.1.
AL450023, AL445236 Genomic DNA. Translation: CAI41158.1.
BC002818 mRNA. Translation: AAH02818.1.
BC007343 mRNA. Translation: AAH07343.1.
BC016957 mRNA. Translation: AAH16957.1.
BC069313 mRNA. Translation: AAH69313.1.
BC071827 mRNA. Translation: AAH71827.1.
BC103863 mRNA. Translation: AAI03864.1.
S79332 mRNA. Translation: AAB35379.1.
X79200 mRNA. No translation available.
S79894 mRNA. Translation: AAB35674.1. Different initiation.
CCDSiCCDS14344.2. [Q16385-1]
CCDS14345.2. [Q16385-2]
CCDS48129.1. [Q16385-1]
CCDS65267.1. [Q16385-2]
PIRiS55058.
RefSeqiNP_001157889.1. NM_001164417.2. [Q16385-1]
NP_001265626.1. NM_001278697.1.
NP_001265630.1. NM_001278701.1. [Q16385-2]
NP_001265631.1. NM_001278702.1.
NP_003138.3. NM_003147.5. [Q16385-2]
NP_783629.1. NM_175698.2. [Q16385-1]
UniGeneiHs.289105.
Hs.661107.

3D structure databases

ProteinModelPortaliQ16385.
SMRiQ16385. Positions 19-69.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112635. 33 interactions.
608281. 2 interactions.
IntActiQ16385. 10 interactions.
MINTiMINT-237154.
STRINGi9606.ENSP00000364665.

PTM databases

iPTMnetiQ16385.
PhosphoSiteiQ16385.

Polymorphism and mutation databases

DMDMi3915028.

Proteomic databases

MaxQBiQ16385.
PaxDbiQ16385.
PeptideAtlasiQ16385.
PRIDEiQ16385.

Protocols and materials databases

DNASUi6757.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000336777; ENSP00000338796; ENSG00000241476. [Q16385-2]
ENST00000337502; ENSP00000338561; ENSG00000241476. [Q16385-1]
ENST00000596480; ENSP00000470740; ENSG00000268447. [Q16385-1]
ENST00000612490; ENSP00000477922; ENSG00000268447. [Q16385-2]
ENST00000616191; ENSP00000478714; ENSG00000268447. [Q16385-1]
GeneIDi6757.
727837.
KEGGihsa:6757.
hsa:727837.
UCSCiuc004dqy.3. human. [Q16385-1]

Organism-specific databases

CTDi6757.
727837.
GeneCardsiSSX2.
SSX2B.
HGNCiHGNC:11336. SSX2.
HGNC:22263. SSX2B.
HPAiCAB046020.
HPA045683.
MalaCardsiSSX2.
MIMi300192. gene.
neXtProtiNX_Q16385.
Orphaneti3273. Synovial sarcoma.
PharmGKBiPA162404839.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JCMU. Eukaryota.
ENOG4111A52. LUCA.
GeneTreeiENSGT00390000012484.
HOGENOMiHOG000231461.
HOVERGENiHBG002056.
InParanoidiQ16385.
KOiK15625.
OMAiASGPQNH.
OrthoDBiEOG091G0NPV.
PhylomeDBiQ16385.
TreeFamiTF338517.

Miscellaneous databases

ChiTaRSiSSX2. human.
GeneWikiiSSX2.
PROiQ16385.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157950.
CleanExiHS_SSX2.
ExpressionAtlasiQ16385. baseline.
GenevisibleiQ16385. HS.

Family and domain databases

CDDicd07765. KRAB_A-box. 1 hit.
InterProiIPR001909. KRAB.
IPR003655. Krueppel-associated_box-rel.
IPR028804. SSX.
IPR019041. SSXRD_motif.
[Graphical view]
PANTHERiPTHR14112. PTHR14112. 1 hit.
PfamiPF01352. KRAB. 1 hit.
PF09514. SSXRD. 1 hit.
[Graphical view]
SMARTiSM00349. KRAB. 1 hit.
[Graphical view]
SUPFAMiSSF109640. SSF109640. 1 hit.
PROSITEiPS50806. KRAB_RELATED. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSSX2_HUMAN
AccessioniPrimary (citable) accession number: Q16385
Secondary accession number(s): Q16404
, Q5JS26, Q96IP7, Q9BU88
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: December 15, 1998
Last modified: September 7, 2016
This is version 142 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.