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

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The dual role of SUSD2 in cancer development.
Title: The dual role of SUSD2 in cancer development.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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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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 more info	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)

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