Aliases for SUSD4 Gene

Aliases for SUSD4 Gene

  • Sushi Domain Containing 4 2 3 5
  • Sushi Domain-Containing Protein 4 3 4
  • Testicular Secretory Protein Li 55 3
  • FLJ10052 2
  • YHGM196 3
  • PRO222 3
  • SUSD4 5

External Ids for SUSD4 Gene

Previous GeneCards Identifiers for SUSD4 Gene

  • GC01M219767
  • GC01M221460
  • GC01M223394
  • GC01M194069

Summaries for SUSD4 Gene

GeneCards Summary for SUSD4 Gene

SUSD4 (Sushi Domain Containing 4) is a Protein Coding gene. Diseases associated with SUSD4 include Chromosome 1Q41-Q42 Deletion Syndrome. An important paralog of this gene is PAPPA2.

UniProtKB/Swiss-Prot Summary for SUSD4 Gene

  • Acts as complement inhibitor by disrupting the formation of the classical C3 convertase. Isoform 3 inhibits the classical complement pathway, while membrane-bound isoform 1 inhibits deposition of C3b via both the classical and alternative complement pathways.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SUSD4 Gene

Genomics for SUSD4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SUSD4 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
GH01J223363 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 266.9 +1.3 1270 2.8 ZSCAN16 ZBTB10 ZEB1 ZIC2 SIN3A ZNF740 ZNF639 VEZF1 ZNF341 CTBP1 SUSD4 CICP5 CICP13 ENSG00000272750 NVL SEPTIN7P13 CAPN2 TAF1A HSALNG0010885 TLR5
GH01J223340 Enhancer 0.7 Ensembl ENCODE 27.2 +24.9 24870 3.6 ZIC2 NFE2 RAD51 NR2F1 USF2 EGR2 ZFHX2 KLF17 ZBTB11 EMSY SUSD4 HSALNG0010885 TLR5
GH01J223331 Enhancer 0.7 Ensembl 15.1 +33.5 33470 2 FEZF1 ZIC2 ZNF132 ZNF24 ZBTB48 ZBTB21 GLIS1 ZNF350 ZNF18 ZSCAN21 NVL CICP5 CICP13 TAF1A SUSD4 ENSG00000272750 SEPTIN7P13 HHIPL2 HSALNG0010885 TLR5
GH01J223358 Enhancer 0.3 Ensembl 22.1 +6.3 6280 0.5 CTCF RAD21 SUSD4 HSALNG0010885 TLR5
GH01J223421 Enhancer 0.5 Ensembl 11.5 -56.3 -56330 0.8 ZNF316 ZBTB48 ZFX MAFK YY2 PRDM10 EMSY SUSD4 MN309174-028 MN309174-029 CCDC185 HSALNG0010889 CAPN8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SUSD4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SUSD4

Top Transcription factor binding sites by QIAGEN in the SUSD4 gene promoter:
  • AML1a
  • GATA-1
  • GATA-2
  • GATA-3
  • Msx-1
  • SRF
  • SRF (504 AA)
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for SUSD4 Gene

Latest Assembly
chr1:223,220,819-223,365,271
(GRCh38/hg38)
Size:
144,453 bases
Orientation:
Minus strand

Previous Assembly
chr1:223,394,173-223,537,518
(GRCh37/hg19 by Entrez Gene)
Size:
143,346 bases
Orientation:
Minus strand

chr1:223,394,161-223,537,544
(GRCh37/hg19 by Ensembl)
Size:
143,384 bases
Orientation:
Minus strand

Genomic View for SUSD4 Gene

Genes around SUSD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUSD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUSD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUSD4 Gene

Proteins for SUSD4 Gene

  • Protein details for SUSD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VX71-SUSD4_HUMAN
    Recommended name:
    Sushi domain-containing protein 4
    Protein Accession:
    Q5VX71
    Secondary Accessions:
    • D3DTB9
    • Q6UX62
    • Q9BSR0
    • Q9NWG0

    Protein attributes for SUSD4 Gene

    Size:
    490 amino acids
    Molecular mass:
    53778 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SUSD4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUSD4 Gene

Post-translational modifications for SUSD4 Gene

  • Glycosylation at Asn104, Asn134, and Asn192
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SUSD4 Gene

Domains & Families for SUSD4 Gene

Gene Families for SUSD4 Gene

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

Protein Domains for SUSD4 Gene

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

Suggested Antigen Peptide Sequences for SUSD4 Gene

GenScript: Design optimal peptide antigens:
  • SUSD4 protein (A5YM74_HUMAN)
  • cDNA FLJ54683, highly similar to Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA (B7Z369_HUMAN)
  • cDNA FLJ59714, highly similar to Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA (B7Z469_HUMAN)
  • Sushi domain-containing protein 4 (SUSD4_HUMAN)
genes like me logo Genes that share domains with SUSD4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SUSD4 Gene

Function for SUSD4 Gene

Molecular function for SUSD4 Gene

UniProtKB/Swiss-Prot Function:
Acts as complement inhibitor by disrupting the formation of the classical C3 convertase. Isoform 3 inhibits the classical complement pathway, while membrane-bound isoform 1 inhibits deposition of C3b via both the classical and alternative complement pathways.

Gene Ontology (GO) - Molecular Function for SUSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI --
genes like me logo Genes that share ontologies with SUSD4: view
genes like me logo Genes that share phenotypes with SUSD4: view

Animal Models for research

  • Taconic Biosciences Mouse Models for SUSD4

miRNA for SUSD4 Gene

miRTarBase miRNAs that target SUSD4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUSD4

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SUSD4 Gene

Localization for SUSD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUSD4 Gene

[Isoform 1]: Membrane. Single-pass type I membrane protein.
[Isoform 3]: Secreted.

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 SUSD4 gene
Compartment Confidence
plasma membrane 3
extracellular 3
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SUSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SUSD4: view

Pathways & Interactions for SUSD4 Gene

PathCards logo

SuperPathways for SUSD4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SUSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IEA --
GO:0006958 complement activation, classical pathway IEA --
GO:0030449 regulation of complement activation IDA 23482636
GO:0045087 innate immune response IEA --
GO:0045957 negative regulation of complement activation, alternative pathway IBA 21873635
genes like me logo Genes that share ontologies with SUSD4: view

No data available for Pathways by source and SIGNOR curated interactions for SUSD4 Gene

Drugs & Compounds for SUSD4 Gene

No Compound Related Data Available

Transcripts for SUSD4 Gene

mRNA/cDNA for SUSD4 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
17 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 SUSD4

Alternative Splicing Database (ASD) splice patterns (SP) for SUSD4 Gene

No ASD Table

Relevant External Links for SUSD4 Gene

GeneLoc Exon Structure for
SUSD4

Expression for SUSD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SUSD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SUSD4 Gene

This gene is overexpressed in Brain - Hippocampus (x4.3).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SUSD4

SOURCE GeneReport for Unigene cluster for SUSD4 Gene:

Hs.497841

mRNA Expression by UniProt/SwissProt for SUSD4 Gene:

Q5VX71-SUSD4_HUMAN
Tissue specificity: Isoform 3 is the predominant isoform in all tissues except cortex, cerebellum, kidney, and breast. Isoform 1 is found primarily in the esophagus and the brain.

Evidence on tissue expression from TISSUES for SUSD4 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with SUSD4: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUSD4 Gene

Orthologs for SUSD4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SUSD4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SUSD4 30 31
  • 98.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SUSD4 30 31
  • 91.63 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Susd4 30
  • 89.39 (n)
Mouse
(Mus musculus)
Mammalia Susd4 30 17 31
  • 88.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SUSD4 31
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SUSD4 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SUSD4 31
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SUSD4 30 31
  • 73.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SUSD4 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tlr5 30
  • 68.57 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC560304 30
  • 63.27 (n)
susd4 31
  • 50 (a)
OneToOne
Species where no ortholog for SUSD4 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SUSD4 Gene

ENSEMBL:
Gene Tree for SUSD4 (if available)
TreeFam:
Gene Tree for SUSD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUSD4: view image

Paralogs for SUSD4 Gene

(1) SIMAP similar genes for SUSD4 Gene using alignment to 7 proteins:

  • SUSD4_HUMAN
  • A5YM74_HUMAN
  • B7Z369_HUMAN
  • B7Z469_HUMAN
  • Q5VX72_HUMAN
  • V9GYN8_HUMAN
  • V9GZ49_HUMAN
genes like me logo Genes that share paralogs with SUSD4: view

Variants for SUSD4 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SUSD4 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 SUSD4 Gene

Variant ID Type Subtype PubMed ID
nsv1010798 CNV gain 25217958
nsv1126228 CNV deletion 24896259
nsv516810 CNV gain 19592680
nsv518979 CNV gain 19592680
nsv826809 CNV gain 20364138
nsv832659 CNV gain 17160897
nsv952126 CNV deletion 24416366

Variation tolerance for SUSD4 Gene

Residual Variation Intolerance Score: 38.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 32.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUSD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUSD4

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SUSD4 Gene

Disorders for SUSD4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SUSD4 Gene - From: COP

Disorder Aliases PubMed IDs
chromosome 1q41-q42 deletion syndrome
  • holoprosencephaly 10, included; hpe10, included
- elite association - COSMIC cancer census association via MalaCards
Search SUSD4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SUSD4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 SUSD4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SUSD4 Gene

Publications for SUSD4 Gene

  1. Sushi domain-containing protein 4 (SUSD4) inhibits complement by disrupting the formation of the classical C3 convertase. (PMID: 23482636) Holmquist E … Blom AM (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2013) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for SUSD4 Gene

Sources for SUSD4 Gene