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SS18L2 SS18 like 2 [ Homo sapiens (human) ]

Gene ID: 51188, updated on 26-Oct-2022

Summary

Official Symbol
SS18L2provided by HGNC
Official Full Name
SS18 like 2provided by HGNC
Primary source
HGNC:HGNC:15593
See related
Ensembl:ENSG00000008324 MIM:606473; AllianceGenome:HGNC:15593
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KIAA-iso
Summary
Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]
Expression
Ubiquitous expression in lymph node (RPKM 8.2), prostate (RPKM 6.4) and 25 other tissues See more
Orthologs
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Genomic context

See SS18L2 in Genome Data Viewer
Location:
3p22.1
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (42581840..42596934)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (42599834..42614928)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42623332..42638426)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene vasoactive intestinal peptide receptor 1 Neighboring gene Sharpr-MPRA regulatory region 5178 Neighboring gene VIPR1 antisense RNA 1 Neighboring gene SEC22 homolog C, vesicle trafficking protein Neighboring gene ZBTB47 and NKTR antisense RNA 1 Neighboring gene natural killer cell triggering receptor Neighboring gene Sharpr-MPRA regulatory region 3469 Neighboring gene zinc finger and BTB domain containing 47

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in positive regulation of dendrite morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
SS18-like protein 2
Names
SYT homolog 2
synovial sarcoma translocation gene on chromosome 18-like 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001370300.1NP_001357229.1  SS18-like protein 2

    Status: VALIDATED

    Source sequence(s)
    AC092047, BC017804, CD640145
    Consensus CDS
    CCDS2701.1
    UniProtKB/Swiss-Prot
    B2R5L1
    UniProtKB/TrEMBL
    A0A024R2Q8
    Related
    ENSP00000011691.4, ENST00000011691.6
    Conserved Domains (1) summary
    pfam05030
    Location:1473
    SSXT; SSXT protein (N-terminal region)
  2. NM_016305.4NP_057389.1  SS18-like protein 2

    See identical proteins and their annotated locations for NP_057389.1

    Status: VALIDATED

    Source sequence(s)
    AC092047, AI027415, BC017804, BX114027, EL954786
    Consensus CDS
    CCDS2701.1
    UniProtKB/Swiss-Prot
    B2R5L1, Q9UHA2
    UniProtKB/TrEMBL
    A0A024R2Q8
    Related
    ENSP00000401115.1, ENST00000447630.5
    Conserved Domains (1) summary
    pfam05030
    Location:1473
    SSXT; SSXT protein (N-terminal region)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    42581840..42596934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    42599834..42614928
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)