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
Score
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 1.5 EPDnew Ensembl ENCODE dbSUPER 625.2 -0.3 -338 1.7 HNRNPL PRDM10 RCOR2 ZIC2 POLR2A SCRT2 SOX13 TAF1 MAFF MAFK SUSD2 NONHSAG033512.2 CABIN1
GH22J024179 Enhancer 0.4 dbSUPER 618.4 -1.7 -1655 0.9 ZIC2 RBM22 HIC1 GLIS2 SUSD2 NONHSAG033512.2 CABIN1
GH22J024151 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 31.3 -25.6 -25634 8 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 KDM1A ZNF692 RCOR2 ZNF7 CABIN1 SUSD2 MMP11 SMARCB1 SPECC1L NONHSAG033512.2 lnc-GGT5-1
GH22J024143 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 34.6 -35.0 -35011 6.1 GATAD2A PRDM10 ZNF692 FOXA1 PRDM1 RXRB PATZ1 IRF2 GABPA ZNF341 SUSD2 CABIN1 MMP11 DDT lnc-GGT5-1 NONHSAG033512.2
GH22J024200 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 33 +23.9 23878 10.7 GATAD2A REST TFE3 SOX13 NFKBIZ RCOR2 FOXA1 RXRB IRF2 SP1 SUSD2 CABIN1 GGTLC4P POM121L9P BCRP1 ENSG00000215464 SPECC1L SMARCB1 GGT1 DDT
- 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

Genomic Locations for SUSD2 Gene
chr22:24,181,487-24,189,106
(GRCh38/hg38)
Size:
7,620 bases
Orientation:
Plus strand
chr22:24,577,227-24,585,078
(GRCh37/hg19)
Size:
7,852 bases
Orientation:
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:
    Q9UGT4-SUSD2_HUMAN
    Recommended name:
    Sushi domain-containing protein 2
    Protein Accession:
    Q9UGT4
    Secondary Accessions:
    • Q9H5Y6

    Protein attributes for SUSD2 Gene

    Size:
    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).
    SequenceCaution:
    • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for SUSD2 Gene

InterPro:
Blocks:
  • Sushi domain/SCR domain/CCP module
  • Von Willebrand factor, type D
ProtoNet:

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 Model Products

  • Taconic Biosciences Mouse Models for SUSD2

CRISPR Products

Inhibitory RNA Products

  • 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

COMPARTMENTS
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: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

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

CRISPR Products

Inhibitory RNA Products

  • 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: -
SP2:
SP3:

Relevant External Links for SUSD2 Gene

GeneLoc Exon Structure for
SUSD2

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:

Hs.131819

mRNA Expression by UniProt/SwissProt for SUSD2 Gene:

Q9UGT4-SUSD2_HUMAN
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(2.6)
  • 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
Chimpanzee
(Pan troglodytes)
Mammalia SUSD2 30 31
  • 98.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SUSD2 30 31
  • 82.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SUSD2 30 31
  • 81.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Susd2 30 17 31
  • 77.42 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Susd2 30
  • 76.82 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia SUSD2 31
  • 60 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SUSD2 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SUSD2 30 31
  • 59.67 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC793335 30
  • 55.99 (n)
SUSD2 31
  • 52 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000550 30
  • 48.14 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG31004 30 31
  • 46.51 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_K03H1.5 30
  • 41.15 (n)
K03H1.5 31
  • 13 (a)
ManyToMany
R09E10.5 31
  • 11 (a)
ManyToMany
F54D1.6 31
  • 10 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for SUSD2 (if available)
TreeFam:
Gene Tree for SUSD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUSD2: view image

Paralogs for SUSD2 Gene

Paralogs for SUSD2 Gene

Pseudogenes.org 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
710164 Benign: not provided 24,181,563(+) C/T MISSENSE_VARIANT
713926 Likely Benign: not provided 24,185,754(+) C/T SYNONYMOUS_VARIANT
727860 Likely Benign: not provided 24,186,155(+) C/T SYNONYMOUS_VARIANT
769156 Benign: not provided 24,186,268(+) C/T MISSENSE_VARIANT
775657 Benign: not provided 24,184,188(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SUSD2 Gene

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
SUSD2

SNP Genotyping and Copy Number Assay Products

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: DISEASES and GeneCards

Disorder Aliases PubMed IDs
anterior compartment syndrome
adhesions of uterus
  • band of uterus
breast cancer
  • breast lobular carcinoma
- 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

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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for SUSD2 Gene

  • Signalway ELISA kits for SUSD2

Sources for SUSD2 Gene