Aliases for SUSD2 Gene

Aliases for SUSD2 Gene

  • Sushi Domain Containing 2 2 3 5
  • Sushi Domain-Containing Protein 2 3 4
  • BK65A6.2 2 3
  • W5C5 2 3
  • Sushi Domain (SCR Repeat) Containing 3
  • Testicular Tissue Protein Li 190 3
  • FLJ22778 2
  • SUSD2 5

External Ids for SUSD2 Gene

Previous GeneCards Identifiers for SUSD2 Gene

  • GC22P022902
  • GC22P022903
  • GC22P022904
  • GC22P022907
  • GC22P024577
  • GC22P007526

Summaries for SUSD2 Gene

GeneCards Summary for SUSD2 Gene

SUSD2 (Sushi Domain Containing 2) is a Protein Coding gene. Diseases associated with SUSD2 include Anterior Compartment Syndrome and Adhesions Of Uterus. Gene Ontology (GO) annotations related to this gene include scavenger receptor activity and polysaccharide binding. An important paralog of this gene is MUC4.

UniProtKB/Swiss-Prot Summary for SUSD2 Gene

  • May be a cytokine receptor for C10ORF99. May be a tumor suppressor; together with C10ORF99 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest (PubMed:25351403). May play a role in breast tumorigenesis (PubMed:23131994).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUSD2 Gene

Genomics for SUSD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SUSD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J024180 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 275.2 -0.4 -356 1.7 ZMYM3 ZIC2 MAFF SAP130 ETV4 DMAP1 GABPB1 TEAD3 MAFK KDM1A SUSD2 HSALNG0134478 lnc-GGT5-3 CABIN1
GH22J024179 Enhancer 0.4 dbSUPER 268.4 -1.7 -1655 0.9 ZIC2 RBM22 GLIS2 HIC1 SUSD2 HSALNG0134478 lnc-GGT5-3 CABIN1
GH22J024151 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 31.3 -25.6 -25634 8 BCLAF1 SP1 MYC ZNF580 ZIC2 ZBTB10 MXD4 BCL11A CTCF SIN3A CABIN1 HSALNG0134476 SUSD2 MMP11 SMARCB1 SPECC1L lnc-GGT5-1 lnc-GGT5-3
GH22J024143 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 34.6 -35.0 -35011 6.1 CEBPA CTCF ZNF341 HOMEZ MAFF SMAD4 SP2 SAP130 ETV4 RARA SUSD2 CABIN1 MMP11 DDT lnc-GGT5-1 HSALNG0134476 lnc-GGT5-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUSD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUSD2

Top Transcription factor binding sites by QIAGEN in the SUSD2 gene promoter:
  • AML1a
  • AREB6
  • GR
  • GR-alpha
  • Lmo2
  • MIF-1
  • Nkx2-5
  • Pax-5
  • SRY

Genomic Locations for SUSD2 Gene

Latest Assembly
7,620 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
7,620 bases
Plus strand

(GRCh37/hg19 by Ensembl)
7,852 bases
Plus strand

Genomic View for SUSD2 Gene

Genes around SUSD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUSD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUSD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUSD2 Gene

Proteins for SUSD2 Gene

  • Protein details for SUSD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sushi domain-containing protein 2
    Protein Accession:
    Secondary Accessions:
    • Q9H5Y6

    Protein attributes for SUSD2 Gene

    822 amino acids
    Molecular mass:
    90208 Da
    Quaternary structure:
    • Interacts with LGALS1; leads to an increased amount of LGALS1 on the cell surface (PubMed:23131994). Interacts with C10ORF99; the interaction is direct (PubMed:25351403).
    • Sequence=BAB15481.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for SUSD2 Gene

Post-translational modifications for SUSD2 Gene

  • Glycosylation at Asn162, Asn177, Asn494, and Asn522
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • SUSD2_HUMAN (1780)

Other Protein References for SUSD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SUSD2 Gene

Domains & Families for SUSD2 Gene

Gene Families for SUSD2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SUSD2 Gene

  • Sushi domain/SCR domain/CCP module
  • Von Willebrand factor, type D

Suggested Antigen Peptide Sequences for SUSD2 Gene

GenScript: Design optimal peptide antigens:
  • Sushi domain-containing protein 2 (SUSD2_HUMAN)
genes like me logo Genes that share domains with SUSD2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SUSD2 Gene

Function for SUSD2 Gene

Molecular function for SUSD2 Gene

UniProtKB/Swiss-Prot Function:
May be a cytokine receptor for C10ORF99. May be a tumor suppressor; together with C10ORF99 has a growth inhibitory effect on colon cancer cells which includes G1 cell cycle arrest (PubMed:25351403). May play a role in breast tumorigenesis (PubMed:23131994).

Phenotypes From GWAS Catalog for SUSD2 Gene

Gene Ontology (GO) - Molecular Function for SUSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23131994
genes like me logo Genes that share ontologies with SUSD2: view
genes like me logo Genes that share phenotypes with SUSD2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SUSD2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUSD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SUSD2 Gene

Localization for SUSD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUSD2 Gene

Cell membrane. Single-pass type I membrane protein. Note=SUSD2 and LGALS1 co-localized in very specific, punctate regions along the cell membrane of breast cancer cells. {ECO:0000269 PubMed:23131994}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUSD2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SUSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane IEA,IDA 23131994
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SUSD2: view

Pathways & Interactions for SUSD2 Gene

PathCards logo

SuperPathways for SUSD2 Gene

No Data Available

Interacting Proteins for SUSD2 Gene

Gene Ontology (GO) - Biological Process for SUSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051782 negative regulation of cell division IDA 25351403
GO:1902807 negative regulation of cell cycle G1/S phase transition IDA 25351403
genes like me logo Genes that share ontologies with SUSD2: view

No data available for Pathways by source and SIGNOR curated interactions for SUSD2 Gene

Drugs & Compounds for SUSD2 Gene

No Compound Related Data Available

Transcripts for SUSD2 Gene

mRNA/cDNA for SUSD2 Gene

5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUSD2

Alternative Splicing Database (ASD) splice patterns (SP) for SUSD2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b
SP1: -

Relevant External Links for SUSD2 Gene

GeneLoc Exon Structure for

Expression for SUSD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUSD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SUSD2 Gene

This gene is overexpressed in Lung (x7.1), Artery - Tibial (x5.6), and Artery - Coronary (x5.5).

Protein differential expression in normal tissues from HIPED for SUSD2 Gene

This gene is overexpressed in Lung (10.2), Pancreas (9.3), Urine (8.7), Spinal cord (8.2), and Seminal vesicle (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUSD2 Gene

Protein tissue co-expression partners for SUSD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUSD2

SOURCE GeneReport for Unigene cluster for SUSD2 Gene:


mRNA Expression by UniProt/SwissProt for SUSD2 Gene:

Tissue specificity: Highly expressed in breast cancer, but shows a restricted expression pattern in normal tissues such as adipose, adrenal gland, kidney, lung, mammary gland, placenta, thyroid, trachea, and uterus (PubMed:23131994). Also expressed in colon; down-regulated in colon cancer tissues (PubMed:25351403).

Evidence on tissue expression from TISSUES for SUSD2 Gene

  • Intestine(4.3)
  • Liver(4.3)
  • Bone marrow(4.2)
  • Nervous system(3.2)
  • Kidney(2.5)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with SUSD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SUSD2 Gene

Orthologs for SUSD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SUSD2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SUSD2 29 30
  • 98.82 (n)
(Canis familiaris)
Mammalia SUSD2 29 30
  • 82.07 (n)
(Bos Taurus)
Mammalia SUSD2 29 30
  • 81.97 (n)
(Mus musculus)
Mammalia Susd2 29 16 30
  • 77.42 (n)
(Rattus norvegicus)
Mammalia Susd2 29
  • 76.82 (n)
(Ornithorhynchus anatinus)
Mammalia SUSD2 30
  • 60 (a)
(Monodelphis domestica)
Mammalia SUSD2 30
  • 60 (a)
(Gallus gallus)
Aves SUSD2 29 30
  • 59.67 (n)
(Danio rerio)
Actinopterygii LOC793335 29
  • 55.99 (n)
SUSD2 30
  • 52 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000550 29
  • 48.14 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31004 29 30
  • 46.51 (n)
(Caenorhabditis elegans)
Secernentea CELE_K03H1.5 29
  • 41.15 (n)
K03H1.5 30
  • 13 (a)
R09E10.5 30
  • 11 (a)
F54D1.6 30
  • 10 (a)
Species where no ortholog for SUSD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for SUSD2 Gene

Gene Tree for SUSD2 (if available)
Gene Tree for SUSD2 (if available)
Evolutionary constrained regions (ECRs) for SUSD2: view image
Alliance of Genome Resources:
Additional Orthologs for SUSD2

Paralogs for SUSD2 Gene

Paralogs for SUSD2 Gene Pseudogenes for SUSD2 Gene

genes like me logo Genes that share paralogs with SUSD2: view

Variants for SUSD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUSD2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs114247596 Benign: not provided 24,184,188(+) G/A
NM_019601.4(SUSD2):c.492G>A (p.Thr164=)
rs115684319 Benign: not provided 24,186,268(+) C/T
NM_019601.4(SUSD2):c.1495C>T (p.Arg499Cys)
rs115842700 Benign: not provided 24,181,563(+) C/T
NM_019601.4(SUSD2):c.44C>T (p.Thr15Ile)
rs149352625 Likely Benign: not provided 24,185,754(+) C/T
NM_019601.4(SUSD2):c.1164C>T (p.Arg388=)
rs369547899 Likely Benign: not provided 24,186,155(+) C/T
NM_019601.4(SUSD2):c.1479C>T (p.Ser493=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SUSD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SUSD2 Gene

Variant ID Type Subtype PubMed ID
dgv4528n100 CNV gain 25217958
dgv8039n54 CNV gain 21841781
esv21680 CNV loss 19812545
esv2724041 CNV deletion 23290073
esv3575443 CNV gain 25503493
esv3893463 CNV gain 25118596
nsv1055830 CNV gain 25217958
nsv1110863 OTHER inversion 24896259
nsv483072 CNV loss 15286789
nsv508730 CNV insertion 20534489
nsv526567 CNV gain 19592680
nsv528842 CNV loss 19592680
nsv7350 OTHER inversion 18451855
nsv834157 CNV gain 17160897
nsv834158 CNV gain 17160897
nsv953058 CNV deletion 24416366
nsv9881 CNV loss 18304495

Variation tolerance for SUSD2 Gene

Residual Variation Intolerance Score: 87.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.98; 79.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUSD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUSD2 Gene

Disorders for SUSD2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SUSD2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
anterior compartment syndrome
adhesions of uterus
  • band of uterus
breast cancer
  • breast cancer, familial
- elite association - COSMIC cancer census association via MalaCards
Search SUSD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SUSD2

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SUSD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SUSD2 Gene

Publications for SUSD2 Gene

  1. CSBF/C10orf99, a novel potential cytokine, inhibits colon cancer cell growth through inducing G1 arrest. (PMID: 25351403) Pan W … Han W (Scientific reports 2014) 3 4
  2. Multiple functions of sushi domain containing 2 (SUSD2) in breast tumorigenesis. (PMID: 23131994) Watson AP … Egland KA (Molecular cancer research : MCR 2013) 3 4
  3. Prospective isolation of mesenchymal stem cells from human bone marrow using novel antibodies directed against Sushi domain containing 2. (PMID: 23406305) Sivasubramaniyan K … Bühring HJ (Stem cells and development 2013) 2 3
  4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for SUSD2 Gene

Sources for SUSD2 Gene