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    SUSD2 sushi domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 56241, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SUSD2provided by HGNC
    Official Full Name
    sushi domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:30667
    See related
    Ensembl:ENSG00000099994 MIM:615825; AllianceGenome:HGNC:30667
    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
    W5C5; BK65A6.2
    Summary
    Involved in negative regulation of cell cycle G1/S phase transition and negative regulation of cell division. Located in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lung (RPKM 80.9), kidney (RPKM 36.6) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SUSD2 in Genome Data Viewer
    Location:
    22q11.23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24181487..24189106)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24643101..24650720)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (24577455..24585074)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372959 Neighboring gene calcineurin binding protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24487229-24487730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24487731-24488230 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24527017-24527518 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24540118-24540852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24540853-24541588 Neighboring gene Sharpr-MPRA regulatory region 1007 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18761 Neighboring gene skeletal muscle cis-regulatory module in CABIN1 intron Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24571075-24571934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24585541-24586182 Neighboring gene MPRA-validated peak4472 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:24601258-24602226 Neighboring gene uncharacterized LOC124905090 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:24609597-24610123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24639831-24640386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:24640387-24640942 Neighboring gene gamma-glutamyltransferase 5

    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 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. The dual role of SUSD2 in cancer development. Bai H, et al. Eur J Pharmacol, 2024 Aug 15. PMID 38897441
    2. SUSD2 is frequently downregulated and functions as a tumor suppressor in RCC and lung cancer. Cheng Y, et al. Tumour Biol, 2016 Jul. PMID 26815503
    3. SUSD2 promotes tumor-associated macrophage recruitment by increasing levels of MCP-1 in breast cancer. Hultgren EM, et al. PLoS One, 2017. PMID 28475599, Free PMC Article
    4. Downregulation of endometrial mesenchymal marker SUSD2 causes cell senescence and cell death in endometrial carcinoma cells. Zhang S, et al. PLoS One, 2017. PMID 28841682, Free PMC Article
    5. Expression of sushi domain containing two reflects the malignant potential of gastric cancer. Umeda S, et al. Cancer Med, 2018 Oct. PMID 30259711, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The dual role of SUSD2 in cancer development.
      Title: The dual role of SUSD2 in cancer development.
    2. CBX8 Together with SET Facilitates Ovarian Carcinoma Growth and Metastasis by Suppressing the Transcription of SUSD2.
      Title: CBX8 Together with SET Facilitates Ovarian Carcinoma Growth and Metastasis by Suppressing the Transcription of SUSD2.
    3. miR-141-3p promotes retinoblastoma progression via inhibiting sushi domain-containing protein 2.
      Title: miR-141-3p promotes retinoblastoma progression via inhibiting sushi domain-containing protein 2.
    4. Genetic variants in SUSD2 are associated with the risk of ischemic heart disease.
      Title: Genetic variants in SUSD2 are associated with the risk of ischemic heart disease.
    5. LncRNA small nucleolar RNA host gene 16 (SNHG16) silencing protects lipopolysaccharide (LPS)-induced cell injury in human lung fibroblasts WI-38 through acting as miR-141-3p sponge.
      Title: LncRNA small nucleolar RNA host gene 16 (SNHG16) silencing protects lipopolysaccharide (LPS)-induced cell injury in human lung fibroblasts WI-38 through acting as miR-141-3p sponge.
    6. Cultured cardiac fibroblasts and myofibroblasts express Sushi Containing Domain 2 and assemble a unique fibronectin rich matrix.
      Title: Cultured cardiac fibroblasts and myofibroblasts express Sushi Containing Domain 2 and assemble a unique fibronectin rich matrix.
    7. CircTOP2A acts as a ceRNA for miR346 and contributes to glioma progression via the modulation of sushi domaincontaining 2.
      Title: Circ‑TOP2A acts as a ceRNA for miR‑346 and contributes to glioma progression via the modulation of sushi domain‑containing 2.
    8. TPM4 aggravates the malignant progression of hepatocellular carcinoma through negatively regulating SUSD2.
      Title: TPM4 aggravates the malignant progression of hepatocellular carcinoma through negatively regulating SUSD2.
    9. SUSD2 was identified as a candidate biomarker for hepatic recurrences of gastric cancer by transcriptome analysis. Patients with high SUSD2 expression were more likely to experience shorter disease-free and overall survival. Also, SUSD2 may reflect the malignant potential of gastric cancer and predict hepatic recurrences after curative resection.
      Title: Expression of sushi domain containing two reflects the malignant potential of gastric cancer.
    10. platelet activation and binding to high-grade serous ovarian carcinoma cells was inversely correlated with the presence of SUSD2. This represents one of the first tumor proteins known to provide differential platelet interaction based on protein status.
      Title: Sushi Domain Containing 2 (SUSD2) inhibits platelet activation and binding to high-grade serous ovarian carcinoma cells.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ22778

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of cell cycle G1/S phase transition IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell division IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    sushi domain-containing protein 2
    Names
    Sushi domain (SCR repeat) containing
    testicular tissue protein Li 190

    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_019601.4 → NP_062547.1  sushi domain-containing protein 2 precursor

      See identical proteins and their annotated locations for NP_062547.1

      Status: VALIDATED

      Source sequence(s)
      BC033107, BI822588
      Consensus CDS
      CCDS13824.1
      UniProtKB/Swiss-Prot
      Q9H5Y6, Q9UGT4
      UniProtKB/TrEMBL
      A0A140VJW3
      Related
      ENSP00000351075.3, ENST00000358321.4
      Conserved Domains (5) summary
      cd00033
      Location:725 → 779
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      pfam01033
      Location:29 → 64
      Somatomedin_B; Somatomedin B domain
      pfam03782
      Location:289 → 430
      AMOP; AMOP domain
      pfam10342
      Location:180 → 256
      GPI-anchored; Ser-Thr-rich glycosyl-phosphatidyl-inositol-anchored membrane family
      cl02516
      Location:448 → 613
      VWD; von Willebrand factor type D domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      24181487..24189106
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      24643101..24650720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UGT4.1 GenPept UniProtKB/Swiss-Prot:Q9UGT4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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    Chemical Information
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