CD93 CD93 molecule [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[Relationship of cerebrospinal fluid and serum levels of SIL-2R, eNOS, and CD93 with the progression and prognosis of viral encephalitis in children].
Title: [Relationship of cerebrospinal fluid and serum levels of SIL-2R, eNOS, and CD93 with the progression and prognosis of viral encephalitis in children].
Clinicopathological association of CD93 expression in gastric adenocarcinoma.
Title: Clinicopathological association of CD93 expression in gastric adenocarcinoma.
CD93 regulates breast cancer growth and vasculogenic mimicry through the PI3K/AKT/SP2 signaling pathway activated by integrin beta1.
Title: CD93 regulates breast cancer growth and vasculogenic mimicry through the PI3K/AKT/SP2 signaling pathway activated by integrin β1.
Structural insight into CD93 recognition by IGFBP7.
Title: Structural insight into CD93 recognition by IGFBP7.
Blockade of CD93 in pleural mesothelial cells fuels anti-lung tumor immune responses.
Title: Blockade of CD93 in pleural mesothelial cells fuels anti-lung tumor immune responses.
The analysis of multiple omics and examination of pathological images revealed the prognostic and therapeutic significances of CD93 in lung squamous cell carcinoma.
Title: The analysis of multiple omics and examination of pathological images revealed the prognostic and therapeutic significances of CD93 in lung squamous cell carcinoma.
First Trimester CD93 as a Novel Marker of Preeclampsia and Its Complications: A Pilot Study.
Title: First Trimester CD93 as a Novel Marker of Preeclampsia and Its Complications: A Pilot Study.
CD93 Ameliorates Diabetic Wounds by Promoting Angiogenesis via the p38MAPK/MK2/HSP27 Axis.
Title: CD93 Ameliorates Diabetic Wounds by Promoting Angiogenesis via the p38MAPK/MK2/HSP27 Axis.
Diagnostic and Prognostic Role of CD93 in Cardiovascular Disease: A Systematic Review.
Title: Diagnostic and Prognostic Role of CD93 in Cardiovascular Disease: A Systematic Review.
Multi-omics profiling and digital image analysis reveal the potential prognostic and immunotherapeutic properties of CD93 in stomach adenocarcinoma.
Title: Multi-omics profiling and digital image analysis reveal the potential prognostic and immunotherapeutic properties of CD93 in stomach adenocarcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W72082 (e-PCR)
- UniSTS:74802

C1QR1_1469 (e-PCR)
- UniSTS:277043

RH91421 (e-PCR)
- UniSTS:92357

D20S1017 (e-PCR)
- UniSTS:77005

RH48371 (e-PCR)
- UniSTS:32753

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

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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)

NM_012072.4 → NP_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:31 → 184

CLECT_thrombomodulin_like; C-type lectin-like domain (CTLD) of the type found in human thrombomodulin(TM), Endosialin, C14orf27, and C1qR

smart00179
Location:427 → 468

EGF_CA; Calcium-binding EGF-like domain

pfam07645
Location:385 → 425

EGF_CA; Calcium-binding EGF domain

pfam09422
Location:464 → 549

WTX; WTX protein

pfam12662
Location:326 → 348

cEGF; Complement Clr-like EGF-like

pfam14670
Location:264 → 300

FXa_inhibition; Coagulation Factor Xa inhibitory site