SUSD3 Gene (Protein Coding)

Sushi Domain Containing 3

GC09P093058
GIFtS:
36
See more...

Aliases for SUSD3 Gene

Aliases for SUSD3 Gene

  • Sushi Domain Containing 3 2 3 5
  • Sushi Domain-Containing Protein 3 3 4
  • MGC26847 2
  • SUSD3 5

External Ids for SUSD3 Gene

Previous GeneCards Identifiers for SUSD3 Gene

  • GC09P091162
  • GC09P092900
  • GC09P094860
  • GC09P095820
  • GC09P065497

Summaries for SUSD3 Gene

GeneCards Summary for SUSD3 Gene

SUSD3 (Sushi Domain Containing 3) is a Protein Coding gene. Diseases associated with SUSD3 include Aarskog-Scott Syndrome. An important paralog of this gene is SVEP1.

UniProtKB/Swiss-Prot Summary for SUSD3 Gene

  • May play a role in breast tumorigenesis by promoting estrogen-dependent cell proliferation, cell-cell interactions and migration.

Additional gene information for SUSD3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUSD3 Gene

Genomics for SUSD3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SUSD3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUSD3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUSD3

Top Transcription factor binding sites by QIAGEN in the SUSD3 gene promoter:
  • HNF-1
  • HNF-1A
  • Pax-5
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A

Genomic Locations for SUSD3 Gene

Latest Assembly
chr9:93,058,688-93,085,138
(GRCh38/hg38)
Size:
26,451 bases
Orientation:
Plus strand

Previous Assembly
chr9:95,820,983-95,847,415
(GRCh37/hg19 by Entrez Gene)
Size:
26,433 bases
Orientation:
Plus strand

chr9:95,820,989-95,847,420
(GRCh37/hg19 by Ensembl)
Size:
26,432 bases
Orientation:
Plus strand

Genomic View for SUSD3 Gene

Genes around SUSD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUSD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUSD3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SUSD3 Gene

Proteins for SUSD3 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for SUSD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96L08-SUSD3_HUMAN
    Recommended name:
    Sushi domain-containing protein 3
    Protein Accession:
    Q96L08
    Secondary Accessions:
    • Q49AA6
    • Q6UXV7

    Protein attributes for SUSD3 Gene

    Size:
    255 amino acids
    Molecular mass:
    27119 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SUSD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUSD3 Gene

Protein Expression for SUSD3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SUSD3 Gene

  • Glycosylation at Asn27
  • Modification sites at PhosphoSitePlus

Other Protein References for SUSD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Boster Bio Antibodies for SUSD3

No data available for DME Specific Peptides for SUSD3 Gene

Domains & Families for SUSD3 Gene

Gene Families for SUSD3 Gene

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

Protein Domains for SUSD3 Gene

InterPro:
Blocks:
  • Sushi domain/SCR domain/CCP module
ProtoNet:

Suggested Antigen Peptide Sequences for SUSD3 Gene

GenScript: Design optimal peptide antigens:
  • Sushi domain-containing protein 3 (SUSD3_HUMAN)
genes like me logo Genes that share domains with SUSD3: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SUSD3 Gene

Function for SUSD3 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for SUSD3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in breast tumorigenesis by promoting estrogen-dependent cell proliferation, cell-cell interactions and migration.
UniProtKB/Swiss-Prot Induction:
Up-regulated upon treatment with estradiol in MCF7 cells.

Phenotypes From GWAS Catalog for SUSD3 Gene

Gene Ontology (GO) - Molecular Function for SUSD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with SUSD3: view
genes like me logo Genes that share phenotypes with SUSD3: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SUSD3

miRNA for SUSD3 Gene

miRTarBase miRNAs that target SUSD3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUSD3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SUSD3 Gene

Localization for SUSD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUSD3 Gene

Cell membrane. Single-pass membrane protein. Note=Prominently localized to cell-cell borders. {ECO:0000269 PubMed:24413080}.

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 SUSD3 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for SUSD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA,IDA 24413080
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SUSD3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SUSD3 Gene

Pathways & Interactions for SUSD3 Gene

PathCards logo

SuperPathways for SUSD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SUSD3 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SUSD3 Gene

Drugs & Compounds for SUSD3 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for SUSD3 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for SUSD3 Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
5 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 SUSD3

Alternative Splicing Database (ASD) splice patterns (SP) for SUSD3 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4:
SP5:

Relevant External Links for SUSD3 Gene

GeneLoc Exon Structure for
SUSD3

Expression for SUSD3 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUSD3 Gene

mRNA expression in normal human tissues for SUSD3 Gene
mRNA expression by GTEx for SUSD3 GenemRNA expression by BioGPS for SUSD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SUSD3 Gene

This gene is overexpressed in Testis (x8.4) and Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for SUSD3 Gene

This gene is overexpressed in Adipocyte (56.5) and CD8 Tcells (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SUSD3 Gene



Protein tissue co-expression partners for SUSD3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUSD3

SOURCE GeneReport for Unigene cluster for SUSD3 Gene:

Hs.88417

mRNA Expression by UniProt/SwissProt for SUSD3 Gene:

Q96L08-SUSD3_HUMAN
Tissue specificity: Highly expressed in estrogen receptor-positive breast tumors.

Evidence on tissue expression from TISSUES for SUSD3 Gene

  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with SUSD3: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SUSD3 Gene

Orthologs for SUSD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SUSD3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SUSD3 30 31
  • 99.08 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Susd3 30
  • 77.15 (n)
Cow
(Bos Taurus)
 Mammalia SUSD3 30 31
  • 76.55 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Susd3 30 17 31
  • 75.4 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SUSD3 31
  • 56 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 55 (a)
 OneToMany
-- 31
  • 39 (a)
 OneToMany
-- 31
  • 15 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia SUSD3 31
  • 47 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SUSD3 31
  • 39 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SUSD3 31
  • 37 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii SUSD3 31
  • 27 (a)
 OneToOne
Species where no ortholog for SUSD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for SUSD3 Gene

ENSEMBL:
Gene Tree for SUSD3 (if available)
TreeFam:
Gene Tree for SUSD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUSD3: view image

Paralogs for SUSD3 Gene

Variants for SUSD3 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUSD3 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
VAR_035663 A breast cancer sample p.Ser140Thr
rs1131773 - p.Lys136Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SUSD3 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 SUSD3 Gene

Variant ID Type Subtype PubMed ID
esv2659260 CNV deletion 23128226
esv2738780 CNV deletion 23290073
esv32996 CNV gain 17666407
esv3573291 CNV loss 25503493
esv3621095 CNV loss 21293372
nsv526296 CNV loss 19592680

Variation tolerance for SUSD3 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.86; 79.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUSD3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUSD3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUSD3 Gene

Disorders for SUSD3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SUSD3 Gene - From: COP

Disorder Aliases PubMed IDs
aarskog-scott syndrome
  • aas
- elite association - COSMIC cancer census association via MalaCards
Search SUSD3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SUSD3

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SUSD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SUSD3 Gene

Publications for SUSD3 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  2. Estrogen-dependent sushi domain containing 3 regulates cytoskeleton organization and migration in breast cancer cells. (PMID: 24413080) Moy I … Bulun SE (Oncogene 2015) 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. 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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for SUSD3 gene in Mastermind

Products for SUSD3 Gene

Sources for SUSD3 Gene