The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein... See more...

Aliases for CD93 Gene

Aliases for CD93 Gene

  • CD93 Molecule 2 3 5
  • CD93 Antigen 2 3 4
  • C1qR(P) 2 3 4
  • CDw93 2 3 4
  • Complement Component 1 Q Subcomponent Receptor 1 3 4
  • Matrix-Remodeling-Associated Protein 4 3 4
  • Complement Component C1q Receptor 3 4
  • Matrix-Remodelling Associated 4 2 3
  • C1q/MBL/SPA Receptor 3 4
  • DJ737E23.1 2 3
  • C1QR1 3 4
  • C1qRP 2 3
  • ECSM3 2 3
  • MXRA4 3 4
  • C1qR 3 4
  • Complement Component 1, Q Subcomponent, Receptor 1 2
  • C1q Receptor 1 3
  • C1qRp 4
  • CD93 5

External Ids for CD93 Gene

Previous HGNC Symbols for CD93 Gene

  • MXRA4
  • C1QR1

Previous GeneCards Identifiers for CD93 Gene

  • GC20M023008
  • GC20M023059

Summaries for CD93 Gene

Entrez Gene Summary for CD93 Gene

  • The protein encoded by this gene is a cell-surface glycoprotein and type I membrane protein that was originally identified as a myeloid cell-specific marker. The encoded protein was once thought to be a receptor for C1q, but now is thought to instead be involved in intercellular adhesion and in the clearance of apoptotic cells. The intracellular cytoplasmic tail of this protein has been found to interact with moesin, a protein known to play a role in linking transmembrane proteins to the cytoskeleton and in the remodelling of the cytoskeleton. [provided by RefSeq, Jul 2008]

GeneCards Summary for CD93 Gene

CD93 (CD93 Molecule) is a Protein Coding gene. Diseases associated with CD93 include C1 Inhibitor Deficiency and Familial Hypercholesterolemia. Among its related pathways are Innate Lymphoid Cell Differentiation Pathways and Immune response Lectin induced complement pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and carbohydrate binding. An important paralog of this gene is CD248.

UniProtKB/Swiss-Prot Summary for CD93 Gene

  • Receptor (or element of a larger receptor complex) for C1q, mannose-binding lectin (MBL2) and pulmonary surfactant protein A (SPA). May mediate the enhancement of phagocytosis in monocytes and macrophages upon interaction with soluble defense collagens. May play a role in intercellular adhesion.

Gene Wiki entry for CD93 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD93 Gene

Genomics for CD93 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CD93 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
GH20J023080 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 274.2 +2.3 2333 8 ZNF592 ZIC2 CTCF TAL1 EBF1 BHLHE40 SPI1 MYC ETV1 MAX CD93 THBD GZF1 HSALNG0129211-002 lnc-CD93-4
GH20J023141 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 44 -65.2 -65179 22 BCLAF1 IKZF1 NCOR1 MYC SSRP1 JUND ZNF592 KLF9 CEBPA NFIC lnc-CD93-8 CD93 THBD NAPB NXT1 LOC100505664 GZF1 CST3 ENSG00000279164 lnc-CD93-7
GH20J023129 Promoter/Enhancer 1.6 EPDnew FANTOM5 ENCODE dbSUPER 38.7 -45.0 -45020 5.5 NCOR1 MYC IKZF1 ZNF592 NFIC NONO HES1 BHLHE40 MBD2 TBP LINC00656 CD93 NAPB NXT1 NXT1-AS1 LOC100505664 THBD GZF1 lnc-SSTR4-12
GH20J023135 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 28.6 -50.2 -50169 3.1 IKZF1 ZNF592 REST TBP TAF9B ZNF316 NFE2 RELA MYNN MLLT1 LINC00656 CD93 NXT1 NXT1-AS1 LOC100505664 lnc-SSTR4-12
GH20J023091 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 22.5 -7.8 -7771 8.8 MYC IKZF1 NCOR1 ZNF592 NFIC ZIC2 HES1 FEZF1 TAL1 ZNF843 HSALNG0129213 lnc-SSTR4-11 CD93 THBD GZF1 HSALNG0129212 NXT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD93 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD93

Top Transcription factor binding sites by QIAGEN in the CD93 gene promoter:
  • AREB6
  • CP2
  • Evi-1
  • FOXF2
  • GATA-1
  • Ik-1
  • NF-kappaB
  • NF-kappaB1
  • RelA
  • Zic1

Genomic Locations for CD93 Gene

Latest Assembly
chr20:23,076,554-23,086,830
(GRCh38/hg38)
Size:
10,277 bases
Orientation:
Minus strand

Previous Assembly
chr20:23,059,997-23,066,961
(GRCh37/hg19 by Entrez Gene)
Size:
6,965 bases
Orientation:
Minus strand

chr20:23,059,986-23,066,977
(GRCh37/hg19 by Ensembl)
Size:
6,992 bases
Orientation:
Minus strand

Genomic View for CD93 Gene

Genes around CD93 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD93 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD93 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD93 Gene

Proteins for CD93 Gene

  • Protein details for CD93 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPY3-C1QR1_HUMAN
    Recommended name:
    Complement component C1q receptor
    Protein Accession:
    Q9NPY3
    Secondary Accessions:
    • O00274

    Protein attributes for CD93 Gene

    Size:
    652 amino acids
    Molecular mass:
    68560 Da
    Quaternary structure:
    • Interacts with C1QBP; the association may represent a cell surface C1q receptor.
    • (Microbial infection) Interacts with hepatitis virus C/HCV core protein.

neXtProt entry for CD93 Gene

Post-translational modifications for CD93 Gene

Other Protein References for CD93 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CD93 Gene

Domains & Families for CD93 Gene

Gene Families for CD93 Gene

Protein Domains for CD93 Gene

InterPro:
Blocks:
  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding

Suggested Antigen Peptide Sequences for CD93 Gene

GenScript: Design optimal peptide antigens:
  • Matrix-remodeling-associated protein 4 (C1QR1_HUMAN)
  • C1q receptor protein (Q8IXK1_HUMAN)
genes like me logo Genes that share domains with CD93: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD93 Gene

Function for CD93 Gene

Molecular function for CD93 Gene

UniProtKB/Swiss-Prot Function:
Receptor (or element of a larger receptor complex) for C1q, mannose-binding lectin (MBL2) and pulmonary surfactant protein A (SPA). May mediate the enhancement of phagocytosis in monocytes and macrophages upon interaction with soluble defense collagens. May play a role in intercellular adhesion.

Phenotypes From GWAS Catalog for CD93 Gene

Gene Ontology (GO) - Molecular Function for CD93 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001849 complement component C1q binding IDA 11781389
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 15459234
GO:0030246 carbohydrate binding IEA --
GO:0038023 signaling receptor activity NAS 9047234
genes like me logo Genes that share ontologies with CD93: view
genes like me logo Genes that share phenotypes with CD93: view

Animal Models for CD93 Gene

MGI Knock Outs for CD93:

Animal Models for research

  • Taconic Biosciences Mouse Models for CD93

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD93

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD93 Gene

Localization for CD93 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD93 Gene

Membrane. Single-pass type I membrane protein.

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 CD93 gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CD93 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030667 secretory granule membrane TAS --
genes like me logo Genes that share ontologies with CD93: view

Pathways & Interactions for CD93 Gene

PathCards logo

SuperPathways for CD93 Gene

SuperPathway Contained pathways
1 Innate Immune System
2 Immune response Lectin induced complement pathway
.56
.55
3 Innate Lymphoid Cell Differentiation Pathways
genes like me logo Genes that share pathways with CD93: view

Pathways by source for CD93 Gene

3 Reactome pathways for CD93 Gene
2 GeneGo (Thomson Reuters) pathways for CD93 Gene
  • Immune response Classical complement pathway
  • Immune response Lectin induced complement pathway
1 R&D Systems pathway for CD93 Gene

Gene Ontology (GO) - Biological Process for CD93 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006909 phagocytosis NAS 9047234
GO:0007155 cell adhesion IEA --
GO:0016032 viral process IEA --
GO:0042116 macrophage activation NAS 9047234
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with CD93: view

No data available for SIGNOR curated interactions for CD93 Gene

Drugs & Compounds for CD93 Gene

(1) Drugs for CD93 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CD93 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD93: view

Transcripts for CD93 Gene

mRNA/cDNA for CD93 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 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 CD93

Alternative Splicing Database (ASD) splice patterns (SP) for CD93 Gene

No ASD Table

Relevant External Links for CD93 Gene

GeneLoc Exon Structure for
CD93

Expression for CD93 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD93 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD93 Gene

This gene is overexpressed in Whole Blood (x5.5) and Adipose - Visceral (Omentum) (x4.4).

Protein differential expression in normal tissues from HIPED for CD93 Gene

This gene is overexpressed in Plasma (20.5), Monocytes (13.5), and Serum (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD93 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD93

SOURCE GeneReport for Unigene cluster for CD93 Gene:

Hs.97199

mRNA Expression by UniProt/SwissProt for CD93 Gene:

Q9NPY3-C1QR1_HUMAN
Tissue specificity: Highly expressed in endothelial cells, platelets, cells of myeloid origin, such as monocytes and neutrophils. Not expressed in cells of lymphoid origin.

Evidence on tissue expression from TISSUES for CD93 Gene

  • Blood(4.6)
  • Intestine(3)
  • Spleen(2.8)
  • Heart(2.7)
  • Bone marrow(2.7)
  • Lung(2.6)
  • Lymph node(2.4)
  • Nervous system(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with CD93: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CD93 Gene

Orthologs for CD93 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD93 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CD93 29 30
  • 98.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CD93 29 30
  • 77.83 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CD93 29 30
  • 77.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cd93 29 16 30
  • 73.45 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd93 29
  • 72.51 (n)
Oppossum
(Monodelphis domestica)
Mammalia CD93 30
  • 57 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CD93 30
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CD93 29 30
  • 54.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CD93 30
  • 39 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cd93 29
  • 52.45 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC101882826 29
  • 45.33 (n)
CD93 30
  • 31 (a)
OneToOne
Species where no ortholog for CD93 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 CD93 Gene

ENSEMBL:
Gene Tree for CD93 (if available)
TreeFam:
Gene Tree for CD93 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD93: view image
Alliance of Genome Resources:
Additional Orthologs for CD93

Paralogs for CD93 Gene

Paralogs for CD93 Gene

genes like me logo Genes that share paralogs with CD93: view

Variants for CD93 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD93 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs138932459 A colorectal cancer sample p.Ala220Val
rs143062108 Benign: not provided 23,084,634(-) G/A
NM_012072.4(CD93):c.1559C>T (p.Ser520Leu)
MISSENSE
rs41347947 Benign: not provided 23,084,911(-) C/A
NM_012072.4(CD93):c.1282G>T (p.Val428Leu)
MISSENSE
rs41471444 Benign: not provided 23,084,849(-) C/T
NM_012072.4(CD93):c.1344G>A (p.Gly448=)
SYNONYMOUS
rs79736225 Benign: not provided 23,084,715(-) G/A
NM_012072.4(CD93):c.1478C>T (p.Thr493Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD93 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 CD93 Gene

Variant ID Type Subtype PubMed ID
esv2758789 CNV loss 17122850
esv3567923 CNV loss 25503493
nsv526474 CNV loss 19592680

Variation tolerance for CD93 Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.45; 54.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD93 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD93
Leiden Open Variation Database (LOVD)
CD93

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD93 Gene

Disorders for CD93 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CD93 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
c1 inhibitor deficiency
  • quincke edema
familial hypercholesterolemia
  • familial hyperbetalipoproteinaemia
- elite association - COSMIC cancer census association via MalaCards
Search CD93 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD93

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 CD93: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD93 Gene

Publications for CD93 Gene

  1. cDNA cloning and primary structure analysis of C1qR(P), the human C1q/MBL/SPA receptor that mediates enhanced phagocytosis in vitro. (PMID: 9047234) Nepomuceno RR … Tenner AJ (Immunity 1997) 2 3 4 22
  2. Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia. (PMID: 18599554) van der Net JB … Sijbrands EJ (European heart journal 2008) 3 22 40
  3. Identification of human CD93 as the phagocytic C1q receptor (C1qRp) by expression cloning. (PMID: 11781389) Steinberger P … Knapp W (Journal of leukocyte biology 2002) 3 4 22
  4. Human C1qRp is identical with CD93 and the mNI-11 antigen but does not bind C1q. (PMID: 11994479) McGreal EP … Gasque P (Journal of immunology (Baltimore, Md. : 1950) 2002) 3 4 22
  5. C1qRP is a heavily O-glycosylated cell surface protein involved in the regulation of phagocytic activity. (PMID: 10092817) Nepomuceno RR … Tenner AJ (Journal of immunology (Baltimore, Md. : 1950) 1999) 3 4 22

Products for CD93 Gene

Sources for CD93 Gene