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Aliases for SUSD4 Gene

Aliases for SUSD4 Gene

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

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. An important paralog of this gene is SUSD6.

UniProtKB/Swiss-Prot 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.

Additional gene information for SUSD4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUSD4 Gene

Genomics for SUSD4 Gene

GeneHancer (GH) Regulatory Elements for SUSD4 Gene

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
GH01I223363 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 567 -0.1 -99 1 ZSCAN4 KLF17 ZNF76 SIN3A ZNF2 ZEB1 ZNF335 GLIS2 ZNF213 SCRT2 SUSD4 CICP5 CICP13 ENSG00000272750 NVL LOC100287497 CAPN2 TAF1A RNU4-57P
GH01I223364 Enhancer 0.8 ENCODE 550.8 -0.7 -662 0.1 ZSCAN4 KLF17 ZNF76 SIN3A ZNF2 ZNF335 GLIS2 ZNF213 SCRT2 EGR2 SUSD4 RNU4-57P
GH01I223341 Enhancer 0.5 ENCODE 27.2 +22.7 22674 0.8 POLR2A NFE2 ZIC2 EMSY EGR2 SUSD4 PIR51913
GH01I223248 Enhancer 0.7 ENCODE 5.5 +115.3 115250 1 MEIS2 FOXA2 MAX RAD21 YY1 ZNF316 FOXK2 HNF4G ATF7 MAFK SUSD4 PIR51913 GC01P223191
GH01I223401 Enhancer 0.2 Ensembl 18.6 -37.1 -37099 0.2 SUSD4 CCDC185 LOC105373034
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SUSD4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SUSD4 gene promoter:

Genomic Locations for SUSD4 Gene

Genomic Locations for SUSD4 Gene
chr1:223,220,819-223,364,202
(GRCh38/hg38)
Size:
143,384 bases
Orientation:
Minus strand
chr1:223,394,161-223,537,544
(GRCh37/hg19)

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 isoforms=2, 3, 4104, isoforms=2, 3, 4134, and posLast=192192

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

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SUSD4: view

No data available for 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.
genes like me logo Genes that share phenotypes with SUSD4: view

Animal Model Products

miRNA for SUSD4 Gene

miRTarBase miRNAs that target SUSD4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , 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

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

SuperPathways for SUSD4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SUSD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006958 complement activation, classical pathway IEA --
GO:0030449 regulation of complement activation IDA 23482636
GO:0045087 innate immune response IEA --
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

Unigene Clusters for SUSD4 Gene

Sushi domain containing 4:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for SUSD4 Gene

GeneLoc Exon Structure for
SUSD4
ECgene alternative splicing isoforms for
SUSD4

Expression for SUSD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of SUSD4 Gene:

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(3.9)
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 33 34
  • 98.7 (n)
cow
(Bos Taurus)
Mammalia SUSD4 33 34
  • 91.63 (n)
rat
(Rattus norvegicus)
Mammalia Susd4 33
  • 89.39 (n)
mouse
(Mus musculus)
Mammalia Susd4 33 16 34
  • 88.71 (n)
dog
(Canis familiaris)
Mammalia SUSD4 34
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SUSD4 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SUSD4 34
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves SUSD4 33 34
  • 73.26 (n)
lizard
(Anolis carolinensis)
Reptilia SUSD4 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tlr5 33
  • 68.57 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC560304 33
  • 63.27 (n)
susd4 34
  • 50 (a)
OneToOne
Species where no ortholog for SUSD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for SUSD4 Gene

Paralogs for SUSD4 Gene

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

genes like me logo Genes that share paralogs with SUSD4: view

Variants for SUSD4 Gene

Sequence variations from dbSNP and Humsavar for SUSD4 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000028553 -- 223,307,365(-) G/A intron_variant
rs1000046659 -- 223,220,767(-) G/C downstream_transcript_variant
rs1000049163 -- 223,354,354(-) AGA/A intron_variant
rs1000078720 -- 223,358,349(-) A/T intron_variant
rs1000086316 -- 223,353,109(-) C/A intron_variant

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUSD4 Gene

Disorders for SUSD4 Gene

Additional Disease Information for SUSD4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SUSD4 Gene.

No data available for MalaCards , 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) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for SUSD4 Gene

Sources for SUSD4 Gene

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