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    CD93 CD93 molecule [ Homo sapiens (human) ]

    Gene ID: 22918, updated on 2-Nov-2024

    Summary

    Official Symbol
    CD93provided by HGNC
    Official Full Name
    CD93 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:15855
    See related
    Ensembl:ENSG00000125810 MIM:120577; AllianceGenome:HGNC:15855
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C1QR1; C1qRP; CDw93; ECSM3; MXRA4; C1qR(P); dJ737E23.1
    Summary
    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]
    Expression
    Broad expression in placenta (RPKM 64.0), lung (RPKM 47.5) and 21 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CD93 in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23079360..23086324, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23120610..23145801, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23059997..23066961, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene thrombomodulin Neighboring gene Sharpr-MPRA regulatory region 8459 Neighboring gene uncharacterized LOC124904964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17629 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:23097446-23097628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17630 Neighboring gene long intergenic non-protein coding RNA 656 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr20:23117070-23118269 Neighboring gene Sharpr-MPRA regulatory region 14145 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:23128189-23129388 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23130883-23131866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12722 Neighboring gene long intergenic non-protein coding RNA 3125 Neighboring gene RNA, 5S ribosomal pseudogene 478

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of liver enzymes in korean children.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables complement component C1q complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in angiogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in macrophage activation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in phagocytosis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in secretory granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
     
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    complement component C1q receptor
    Names
    C1q receptor 1
    C1q/MBL/SPA receptor
    C1qR
    CD93 antigen
    complement component 1 q subcomponent receptor 1
    matrix-remodeling-associated protein 4
    matrix-remodelling associated 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_012072.4NP_036204.2  complement component C1q receptor precursor

      See identical proteins and their annotated locations for NP_036204.2

      Status: REVIEWED

      Source sequence(s)
      AL118508, BC028075, U94333
      Consensus CDS
      CCDS13149.1
      UniProtKB/Swiss-Prot
      O00274, Q9NPY3
      UniProtKB/TrEMBL
      Q8IXK1
      Related
      ENSP00000246006.4, ENST00000246006.5
      Conserved Domains (6) summary
      cd03600
      Location:31184
      CLECT_thrombomodulin_like; C-type lectin-like domain (CTLD) of the type found in human thrombomodulin(TM), Endosialin, C14orf27, and C1qR
      smart00179
      Location:427468
      EGF_CA; Calcium-binding EGF-like domain
      pfam07645
      Location:385425
      EGF_CA; Calcium-binding EGF domain
      pfam09422
      Location:464549
      WTX; WTX protein
      pfam12662
      Location:326348
      cEGF; Complement Clr-like EGF-like
      pfam14670
      Location:264300
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      23079360..23086324 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      23120610..23145801 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008485242.1 RNA Sequence

    2. XR_008485243.1 RNA Sequence

    3. XR_008485244.1 RNA Sequence