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CD93 CD93 molecule [ Homo sapiens (human) ]

Gene ID: 22918, updated on 18-Sep-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
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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)

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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