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SS18L2 SS18 like 2 [ Homo sapiens (human) ]

Gene ID: 51188, updated on 27-Nov-2024

Summary

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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
mouse all
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Genomic context

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See SS18L2 in Genome Data Viewer
Location:
3p22.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (42581840..42596934)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (42599834..42614928)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42623332..42638426)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909372 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:42542633-42543206 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14244 Neighboring gene Sharpr-MPRA regulatory region 5178 Neighboring gene vasoactive intestinal peptide receptor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:42566136-42566306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42574871-42575372 Neighboring gene VIPR1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42581415-42581916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42581917-42582416 Neighboring gene SEC22 homolog C, vesicle trafficking protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:42622926-42623752 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19746 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14246 Neighboring gene ZBTB47 and NKTR antisense RNA 1 Neighboring gene natural killer cell triggering receptor Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:42672544-42673392 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:42673393-42674241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:42695163-42695804 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14247 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14248 Neighboring gene Sharpr-MPRA regulatory region 3469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42700825-42701735 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42701736-42702645 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42706502-42707002 Neighboring gene uncharacterized LOC124906232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42708562-42709098 Neighboring gene zinc finger and BTB domain containing 47

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene. de Bruijn DR, et al. Cytogenet Cell Genet, 2001. PMID 11435705
  2. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Connaughton DM, et al. Am J Hum Genet, 2020 Oct 1. PMID 32891193, Free PMC Article
  3. UBE2O and USP7 co-regulate RECQL4 ubiquitinylation and homologous recombination-mediated DNA repair. Huang Q, et al. FASEB J, 2022 Jan. PMID 34921745
  4. Systematic identification of cancer cell vulnerabilities to natural killer cell-mediated immune surveillance. Pech MF, et al. Elife, 2019 Aug 27. PMID 31452512, Free PMC Article
  5. Identification and functional characterization of transcriptional activators in human cells. Alerasool N, et al. Mol Cell, 2022 Feb 3. PMID 35016035

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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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_001370300.1 → NP_001357229.1  SS18-like protein 2

    Status: VALIDATED

    Source sequence(s)
    AC092047, BC017804, CD640145
    Consensus CDS
    CCDS2701.1
    UniProtKB/Swiss-Prot
    B2R5L1, Q9UHA2
    Related
    ENSP00000011691.4, ENST00000011691.6
    Conserved Domains (1) summary
    pfam05030
    Location:14 → 73
    SSXT; SSXT protein (N-terminal region)

  2. NM_016305.4 → NP_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
    Related
    ENSP00000401115.1, ENST00000447630.5
    Conserved Domains (1) summary
    pfam05030
    Location:14 → 73
    SSXT; SSXT protein (N-terminal region)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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)

mRNA and Protein(s)

  1. XM_054346745.1 → XP_054202720.1  SS18-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2R5L1, Q9UHA2

  2. XM_054346742.1 → XP_054202717.1  SS18-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2R5L1, Q9UHA2

  3. XM_054346743.1 → XP_054202718.1  SS18-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2R5L1, Q9UHA2

  4. XM_054346744.1 → XP_054202719.1  SS18-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2R5L1, Q9UHA2

  5. XM_054346741.1 → XP_054202716.1  SS18-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    B2R5L1, Q9UHA2
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHA2.1 GenPept UniProtKB/Swiss-Prot:Q9UHA2

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