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

Gene ID: 56241, updated on 15-Jul-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, Apr 2022]
Expression
Biased expression in lung (RPKM 80.9), kidney (RPKM 36.6) and 4 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (24181487..24189106)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (24643101..24650720)
105.20220307 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
  • 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. Cultured cardiac fibroblasts and myofibroblasts express Sushi Containing Domain 2 and assemble a unique fibronectin rich matrix. Schmuck EG, et al. Exp Cell Res, 2021 Feb 15. PMID 33453237
  2. Genetic variants in SUSD2 are associated with the risk of ischemic heart disease. Bruikman CS, et al. J Clin Lipidol, 2020 Jul-Aug. PMID 32620384
  3. Sushi Domain Containing 2 (SUSD2) inhibits platelet activation and binding to high-grade serous ovarian carcinoma cells. Lager TW, et al. Platelets, 2018 Dec. PMID 30335544
  4. 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
  5. 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

See all (32) 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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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_2023_10

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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