CD93

Summary

CD93 (CD93 molecule, HGNC:15855) is a protein-coding gene on chromosome 20p11.21, encoding Complement component C1q receptor (Q9NPY3). Cell surface receptor that plays a role in various physiological processes including inflammation, phagocytosis, and cell adhesion.

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.

Source: NCBI Gene 22918 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 138 total
• MANE Select transcript: NM_012072

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15855
Approved symbol	CD93
Name	CD93 molecule
Location	20p11.21
Locus type	gene with protein product
Status	Approved
Aliases	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3
Ensembl gene	ENSG00000125810
Ensembl biotype	protein_coding
OMIM	120577
Entrez	22918

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 nonsense_mediated_decay, 1 protein_coding, 1 retained_intron

ENST00000246006, ENST00000799105, ENST00000850633, ENST00000850634, ENST00000850635

RefSeq mRNA: 1 — MANE Select: NM_012072 NM_012072

CCDS: CCDS13149

Canonical transcript exons

ENST00000246006 — 2 exons

Exon	Start	End
ENSE00004282409	23084259	23086324
ENSE00004282410	23079360	23083974

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 98.70.

FANTOM5 (CAGE): breadth broad, TPM avg 6.5091 / max 148.2102, expressed in 484 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186664	5.8351	473
186665	0.5683	244
186663	0.1057	58

Top tissues by expression

293 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
visceral pleura	UBERON:0002401	98.70	gold quality
lower lobe of lung	UBERON:0008949	97.86	gold quality
pleura	UBERON:0000977	97.71	gold quality
parietal pleura	UBERON:0002400	97.12	gold quality
monocyte	CL:0000576	97.09	gold quality
mononuclear cell	CL:0000842	97.05	gold quality
leukocyte	CL:0000738	96.86	gold quality
periodontal ligament	UBERON:0008266	96.56	gold quality
placenta	UBERON:0001987	96.40	gold quality
pericardium	UBERON:0002407	96.36	gold quality
vena cava	UBERON:0004087	96.02	gold quality
trabecular bone tissue	UBERON:0002483	95.93	gold quality
superficial temporal artery	UBERON:0001614	95.77	gold quality
mucosa of urinary bladder	UBERON:0001259	95.63	gold quality
lung	UBERON:0002048	95.56	gold quality
tendon of biceps brachii	UBERON:0008188	95.32	gold quality
skin of hip	UBERON:0001554	95.19	gold quality
heart right ventricle	UBERON:0002080	94.94	gold quality
upper lobe of lung	UBERON:0008948	94.85	gold quality
saphenous vein	UBERON:0007318	94.74	gold quality
upper lobe of left lung	UBERON:0008952	94.68	gold quality
right lung	UBERON:0002167	94.59	gold quality
adipose tissue	UBERON:0001013	94.44	gold quality
adipose tissue of abdominal region	UBERON:0007808	94.21	gold quality
connective tissue	UBERON:0002384	94.04	gold quality
omental fat pad	UBERON:0010414	94.04	gold quality
peritoneum	UBERON:0002358	94.02	gold quality
gall bladder	UBERON:0002110	93.92	gold quality
subcutaneous adipose tissue	UBERON:0002190	93.71	gold quality
myocardium	UBERON:0002349	93.59	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 13.

Experiment	Marker?	Max mean expression
E-ENAD-27	yes	1191.43
E-MTAB-8142	yes	123.74
E-MTAB-10287	yes	66.64
E-GEOD-135922	yes	44.25
E-HCAD-11	yes	42.83
E-HCAD-1	yes	42.21
E-HCAD-10	yes	35.25
E-MTAB-8410	yes	34.85
E-CURD-46	yes	32.86
E-MTAB-6701	yes	28.17
E-CURD-112	yes	8.86
E-GEOD-130148	yes	7.77
E-MTAB-8271	no	522.74
E-MTAB-8205	no	268.26
E-MTAB-7381	no	198.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

183 targeting CD93, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-12121	99.99	66.64	255
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-607	99.97	73.62	5593

Literature-anchored findings (GeneRIF, showing 40)

• To clarify the cellular and molecular properties of C1qRp it has been demonstrated that C1q does not show enhanced binding to C1qRp-transfected cells, is not a receptor for C1q, and is identical to CD93 with functions relevant to intercellular adhesion. (PMID:11994479)
• C1qRp defines a new human stem cell population with hematopoietic and hepatic potential (PMID:12140365)
• O-glycosylation is important in the stable cell surface expression of C1qRP/CD93 (PMID:12891708)
• Taken together, these findings indicate that the expression of the CD93 molecule identified by CD93 mAb (mNI-11) is dramatically decreased on U937 cells with apoptotic properties (PMID:18094537)
• RNAi-mediated suppression of gC1qR/p32 markedly reduced HTNV binding and infection in human lung epithelial A549 cells (PMID:18834607)
• both B1 receptor and gC1q receptor are involved in the vascular leakage induced by hereditary and acquired angioedema plasma. (PMID:19796797)
• expression on naive T lymphocytes (CD4(+)CD45RA (+) cells) in human neonatal umbilical cord blood (PMID:20512406)
• Results suggest that the plasma concentration of soluble CD93 is a potential novel biomarker for Coronary Artery Disease (CAD), including MI. (PMID:21332844)
• Data show that Pic, a class 2 SPATE protein produced by Shigella flexneri 2a targets a broad range of human leukocyte glycoproteins including CD43, CD44, CD45, CD93, CD162 and the surface-attached chemokine fractalkine. (PMID:21768350)
• [review] Following a comprehensive summary of CD93 expression patterns, this review focuses on recent findings that address the putative function of CD93 in inflammation and innate immunity. (PMID:22206251)
• The data indicate that gC1qR inhibits viability, migration and proliferation of cervical squamous cells carcinoma via the p38 MAPK signalling pathway. (PMID:23052251)
• These data support a mechanism whereby gC1qR induces apoptosis through the mitochondrial and p53-dependent pathways in cervical squamous cell carcinoma. (PMID:23268996)
• soluble EGF-like domain containing CD93 protein is a novel angiogenic factor acting on the endothelium (PMID:23272129)
• HPV 16 E2 induces apoptosis by silencing the gC1qR gene or inhibiting p38 MAPK/JNK signalling in cervical squamous cell carcinoma (PMID:23651874)
• Expression of CD93 on the lymphocyte population of peripheral blood cells from infants at 1 month after birth was also significantly decreased, compared with that for neonatal umbilical cord blood. (PMID:24033555)
• Antibody-dependent enhancement of parvovirus B19 involves an alternative mechanism mediated by the heat-sensitive complement factor C1q and its receptor, CD93. (PMID:24807719)
• These data support a mechanism whereby gC1qR plays an important role in HPV-16 E2-induced human cervical squamous carcinoma cell apoptosis via a mitochondria-dependent pathway. (PMID:25288439)
• The T/T genotype of SNP rs2749817 of CD93 is associated with disseminated cancer. (PMID:26008729)
• CD93 is a key regulator of glioma angiogenesis and vascular function, acting via cytoskeletal rearrangements required for cell-cell and cell-matrix adhesion. (PMID:26363010)
• CD93 expression identifies a predominantly cycling, non-quiescent leukemia-initiating cell population in MLL-rearranged AML, providing opportunities for selective targeting and eradication of LSCs. (PMID:26387756)
• Data show that CD93 antigen proved to be phosphorylated on tyrosine 628 and 644 following cell adhesion on laminin through dystroglycan. (PMID:26848865)
• Vascular CD93 expression is elevated in nasopharyngeal carcinoma and is correlated with T classification, N classification, distant metastasis, clinical stage and poor prognosis (all P < 0.05). In addition, overexpression of CD93 promoted angiogenesis in vitro. (PMID:27255994)
• CD93 and Other Plasma Cell Survival Factor Genes Associated with Measles-Specific Antibody Response after Vaccination (PMID:27529750)
• Soluble expression of disulfide-bonded C-type lectin like domain of human CD93 in the cytoplasm of Escherichia coli. The recombinant protein could alter LPS pro-inflammatory activity on THP1 cells. (PMID:27742562)
• both transmembrane and soluble CD93 are overexpressed in patients with neovascular Age-Related Macular Degeneration. (PMID:27859225)
• Elevated serum sCD93 levels reflected exacerbated status of allergic diseases, including CSU [chronic spontaneous urticaria ], AR[allergic rhinitis], and asthma. ICS [inhaled corticosteroid] use significantly diminished serum sCD93 levels in steroid-naive patients with BA[Bronchial asthma]. This result may suggest sCD93 in serum as a therapeutic marker for allergic inflammation. (PMID:28332366)
• Report increased CD93 expression in patients with chronic plaque psoriasis and propose the C allele of rs2749817 as a new risk allele for psoriasis. (PMID:28421233)
• These findings identify novel protein interactions involving CLEC14A, CD93 and CD248 with MMRN2 as targetable components of vessel formation (PMID:28671670)
• Results show that CD93 and MMRN2 are co-expressed in the blood vessels of various tumors and their interaction modulates the angiogenic process. (PMID:28912033)
• These findings demonstrate a key role of CD93 in vascular maturation and organization of the extracellular matrix in tumors, identifying it as a potential target for therapy. (PMID:29763414)
• these results show that CD93 is selectively expressed on multiple myeloma cell lines and primary multiple myeloma cells isolated from patients (PMID:31182688)
• CD93 may act as a receptor at plasma membrane for bacterial DNA or CpG oligonucleotide and to grant delivery to endosomal TLR9. (PMID:31335975)
• CD93 hematopoietic stem cells improve diabetic wound healing by VEGF activation and downregulation of DAPK-1. (PMID:31549396)
• Efficiency and Target Derepression of Anti-miR-92a: Results of a First in Human Study. (PMID:32707001)
• Genetic variance and plasma concentration of CD93 is associated with cardiovascular mortality: Results from a 6.7year followup of a healthy communityliving elderly population. (PMID:33173973)
• CD93 has a crucial role in pathogenesis of psoriasis. (PMID:34028163)
• The Globular C1q Receptor Is Required for Epidermal Growth Factor Receptor Signaling during Candida albicans Infection. (PMID:34724825)
• CD93 Signaling via Rho Proteins Drives Cytoskeletal Remodeling in Spreading Endothelial Cells. (PMID:34830297)
• Microbial Protein Binding to gC1qR Drives PLA2G1B-Induced CD4 T-Cell Anergy. (PMID:35392090)
• CD93 promotes acute myeloid leukemia development and is a potential therapeutic target. (PMID:36152731)

Cross-species orthologs

12 orthologs

Organism	Symbol	Gene ID
danio_rerio	cd248b	ENSDARG00000077938
danio_rerio	cd248a	ENSDARG00000103713
mus_musculus	Cd93	ENSMUSG00000027435
rattus_norvegicus	Cd93	ENSRNOG00000024799
caenorhabditis_elegans		WBGENE00000168
caenorhabditis_elegans		WBGENE00012018
caenorhabditis_elegans		WBGENE00013480
caenorhabditis_elegans		WBGENE00013486
caenorhabditis_elegans		WBGENE00013487
caenorhabditis_elegans		WBGENE00018906
caenorhabditis_elegans		WBGENE00019901
caenorhabditis_elegans		WBGENE00022858

Paralogs (8): DLL3 (ENSG00000090932), FBLN7 (ENSG00000144152), WIF1 (ENSG00000156076), CRELD1 (ENSG00000163703), DLK2 (ENSG00000171462), CD248 (ENSG00000174807), CLEC14A (ENSG00000176435), CRELD2 (ENSG00000184164)

Protein

Protein identifiers

Complement component C1q receptor — Q9NPY3 (reviewed: Q9NPY3)

Alternative names: C1q/MBL/SPA receptor, CDw93, Complement component 1 q subcomponent receptor 1, Matrix-remodeling-associated protein 4

All UniProt accessions (1): Q9NPY3

UniProt curated annotations — full annotation on UniProt →

Function. Cell surface receptor that plays a role in various physiological processes including inflammation, phagocytosis, and cell adhesion. Plays a role in phagocytosis and enhances the uptake of apoptotic cells and immune complexes by acting as a receptor for defense collagens including surfactant protein A/SFTPA1, C1q, and mannose-binding lectin (MBL2). Plays a role in the regulation of endothelial cell function and adhesion by activating angiogenesis. Mechanistically, exerts its angiogenic function by associating with beta-dystroglycan, leading to SRC-dependent phosphorylation and subsequent recruitment of CBL. In turn, CBL provides a docking site for downstream signaling components, such as CRKL to enhance cell migration. Participates in angiogenesis also by acting as a receptor for the ECM pan-endothelial glycoprotein multimerin-2/MMRN2 and IGFBP7 ligands. Both ligands play a non-redundant role in CD93-mediated endothelial cell function. Acts as a key regulator of endothelial barrier function through modulating VEGFR2 function.

Subunit / interactions. Homodimer. Interacts with C1QBP; the association may represent a cell surface C1q receptor. Interacts with surfactant protein A/SFTPA1. Interacts with multimerin-2/MMRN2. Interacts with DAG1; this interaction plays an important role in endothelial cell migration. Interacts with CBL. Interacts with IGFBP7. Interacts with VEGFR2. (Microbial infection) Interacts with hepatitis virus C/HCV core protein.

Subcellular location. Cell membrane.

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

Post-translational modifications. N- and O-glycosylated. Phosphorylated on Tyr-628 and Tyr-644 by SRC; these phosphorylations promote endothelial cell adhesion and migration.

RefSeq proteins (1): NP_036204* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000742	EGF	Domain
IPR001304	C-type_lectin-like	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR026823	cEGF	Domain
IPR049883	NOTCH1_EGF-like	Domain
IPR051505	C-type_lectin_domain	Family

Pfam: PF00059, PF07645, PF12662

UniProt features (79 total): strand 22, disulfide bond 16, sequence conflict 8, domain 6, mutagenesis site 4, region of interest 3, compositionally biased region 3, modified residue 3, sequence variant 3, helix 3, topological domain 2, turn 2, signal peptide 1, chain 1, glycosylation site 1, transmembrane region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8A59	X-RAY DIFFRACTION	1.92
8IVD	X-RAY DIFFRACTION	3.24

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NPY3-F1	73.07	0.30

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 627, 628, 644

Disulfide bonds (16): 141–165, 264–275, 271–285, 287–300, 306–317, 311–328, 330–343, 349–358, 354–367, 369–383, 389–400, 396–409, 411–425, 431–443, 439–452, 454–467

Glycosylation sites (1): 325

Mutagenesis-validated functional residues (4):

Position	Phenotype
104	loss of interaction with mmrn2.
136	loss of interaction with mmrn2.
276	loss of interaction with igfbp7.
295	loss of interaction with igfbp7.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System

MSigDB gene sets: 299 (showing top): WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, MCLACHLAN_DENTAL_CARIES_UP, GOCC_SECRETORY_GRANULE, GOCC_CELL_SURFACE, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_ADHESION, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_MYELOID_LEUKOCYTE_ACTIVATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, GROSS_HYPOXIA_VIA_ELK3_DN, GROSS_HYPOXIA_VIA_ELK3_AND_HIF1A_UP, TGTGTGA_MIR377, GOBP_MACROPHAGE_ACTIVATION

GO Biological Process (5): angiogenesis (GO:0001525), phagocytosis (GO:0006909), macrophage activation (GO:0042116), cell-cell adhesion (GO:0098609), cell adhesion (GO:0007155)

GO Molecular Function (5): complement component C1q complex binding (GO:0001849), calcium ion binding (GO:0005509), carbohydrate binding (GO:0030246), signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (8): plasma membrane (GO:0005886), cell surface (GO:0009986), secretory granule membrane (GO:0030667), specific granule membrane (GO:0035579), tertiary granule membrane (GO:0070821), ficolin-1-rich granule membrane (GO:0101003), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
secretory granule membrane	3
binding	2
cellular anatomical structure	2
tertiary granule	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
endocytosis	1
myeloid leukocyte activation	1
cell adhesion	1
cellular process	1
opsonin binding	1
complement binding	1
protein-containing complex binding	1
metal ion binding	1
molecular transducer activity	1
membrane	1
cell periphery	1
secretory granule	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
specific granule	1
ficolin-1-rich granule	1
cytoplasm	1
intracellular vesicle	1

Protein interactions and networks

STRING

2454 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CD93	CALR	P27797	807
CD93	C1QA	P02745	802
CD93	MBL2	P11226	798
CD93	C1QBP	Q07021	738
CD93	GIPC1	O14908	727
CD93	ITGAX	P20702	700
CD93	MSN	P26038	671
CD93	SDC1	P18827	656
CD93	CR2	P20023	650
CD93	C5AR1	P21730	643
CD93	SPN	P16150	637
CD93	C3	P01024	634
CD93	C3AR1	Q16581	629
CD93	C1S	P09871	621
CD93	ITGAM	P11215	599

IntAct

16 interactions, top by confidence:

A	B	Type	Score
IFNGR1	CD93	psi-mi:“MI:0407”(direct interaction)	0.600
CD93	IFNGR1	psi-mi:“MI:0407”(direct interaction)	0.600
CD93	IFNGR1	psi-mi:“MI:0403”(colocalization)	0.600
CD93	RARS1	psi-mi:“MI:0914”(association)	0.530
CRK	CD93	psi-mi:“MI:0915”(physical association)	0.400
CD93		psi-mi:“MI:0915”(physical association)	0.400
COPS5	CD93	psi-mi:“MI:0915”(physical association)	0.370
TENT5A	CD93	psi-mi:“MI:0915”(physical association)	0.370
CD93	MYD88	psi-mi:“MI:0915”(physical association)	0.370
BAG6	CD93	psi-mi:“MI:0915”(physical association)	0.370
UBQLN2	CD93	psi-mi:“MI:0915”(physical association)	0.370
CD93	ORC4	psi-mi:“MI:0914”(association)	0.350
	ENO1	psi-mi:“MI:0914”(association)	0.350
CD93	POTEF	psi-mi:“MI:0914”(association)	0.350
BAG4	DNAJB6	psi-mi:“MI:0914”(association)	0.350

BioGRID (43): RARS (Affinity Capture-MS), KCTD17 (Affinity Capture-MS), ASPH (Affinity Capture-MS), RNF114 (Affinity Capture-MS), MEMO1 (Affinity Capture-MS), ACP2 (Affinity Capture-MS), ORC4 (Affinity Capture-MS), CNTNAP1 (Affinity Capture-MS), CLDND1 (Affinity Capture-MS), ECSIT (Affinity Capture-MS), MMRN2 (Affinity Capture-Western), MMRN2 (Reconstituted Complex), MMRN2 (Co-localization), ITGB1 (Reconstituted Complex), CLDND1 (Affinity Capture-MS)

ESM2 similar proteins: A1L0T3, A1L4H1, A6QNY1, D3YZF7, O95428, P28698, P30203, P55068, P55106, P59222, P98162, Q04756, Q14767, Q28019, Q28062, Q28256, Q28343, Q28670, Q3U515, Q4G0T1, Q5F378, Q5HZW5, Q61003, Q61361, Q6H9L7, Q6KF10, Q6PGE4, Q6QNF4, Q7TQH7, Q7Z4F1, Q86T13, Q86VR7, Q86VZ4, Q8BV57, Q8BZE1, Q8CB67, Q8VCP9, Q8WTU2, Q91V98, Q96DN2

Diamond homologs: G3V928, O89103, Q07954, Q91V98, Q91ZX7, Q9ET61, Q9HCU0, Q9NPY3, A0A1D6E0S8, A2AJ76, A2ARV4, A4QPB2, A8WGB1, B3NBB6, B4HVU2, B4IXJ2, B4PD96, B4QMF4, C0HL13, O42182, O73775, O75096, O75197, O75581, O88307, O88572, P01131, P01132, P01133, P06579, P07204, P07225, P07522, P0DSP1, P10493, P14543, P15306, P20063, P23142, P34576

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

138 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	113
Likely benign	14
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

435 predictions. Top by Δscore:

Variant	Effect	Δscore
20:23083676:T:TC	acceptor_gain	0.9900
20:23083683:T:C	acceptor_gain	0.9900
20:23083683:T:TC	acceptor_gain	0.9900
20:23084253:CTTTA:C	donor_loss	0.9900
20:23084255:TTACC:T	donor_loss	0.9900
20:23084256:TACCT:T	donor_loss	0.9900
20:23084257:ACCTG:A	donor_loss	0.9900
20:23084258:C:CT	donor_loss	0.9900
20:23083329:T:TA	donor_gain	0.9800
20:23083975:C:CC	acceptor_gain	0.9800
20:23084258:CCT:C	donor_gain	0.9800
20:23083674:CAT:C	acceptor_gain	0.9700
20:23083826:A:AC	donor_gain	0.9700
20:23083827:C:CC	donor_gain	0.9700
20:23083827:CAA:C	donor_gain	0.9700
20:23083676:T:C	acceptor_gain	0.9600
20:23083672:CACAT:C	acceptor_gain	0.9500
20:23083827:CAATT:C	donor_gain	0.9400
20:23083971:CGGA:C	acceptor_gain	0.9400
20:23084263:A:AC	donor_gain	0.9400
20:23084264:C:CC	donor_gain	0.9400
20:23084289:G:C	donor_gain	0.9400
20:23084259:CTG:C	donor_gain	0.9300
20:23084260:TGT:T	donor_gain	0.9300
20:23083675:A:C	acceptor_gain	0.9100
20:23084257:A:AC	donor_gain	0.9100
20:23084258:C:CC	donor_gain	0.9100
20:23085887:G:A	donor_gain	0.8900
20:23083827:CA:C	donor_gain	0.8800
20:23083977:A:C	acceptor_gain	0.8800

AlphaMissense

4218 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:23085443:C:A	W250C	0.996
20:23085443:C:G	W250C	0.996
20:23086035:C:G	C53S	0.996
20:23086036:A:T	C53S	0.996
20:23085713:C:A	W160C	0.995
20:23085713:C:G	W160C	0.995
20:23085474:C:G	C240S	0.994
20:23085475:A:T	C240S	0.994
20:23085654:C:G	C180S	0.994
20:23085655:A:T	C180S	0.994
20:23085809:C:A	W128C	0.994
20:23085809:C:G	W128C	0.994
20:23086035:C:T	C53Y	0.993
20:23085381:C:G	C271S	0.992
20:23085382:A:T	C271S	0.992
20:23085715:A:G	W160R	0.992
20:23085715:A:T	W160R	0.992
20:23085911:C:A	W94C	0.992
20:23085911:C:G	W94C	0.992
20:23085653:G:C	C180W	0.991
20:23085654:C:T	C180Y	0.991
20:23086034:G:C	C53W	0.991
20:23085473:G:C	C240W	0.990
20:23085655:A:G	C180R	0.990
20:23085368:G:C	C275W	0.989
20:23085647:G:C	F182L	0.989
20:23085647:G:T	F182L	0.989
20:23085649:A:G	F182L	0.989
20:23085474:C:T	C240Y	0.988
20:23085475:A:G	C240R	0.988

dbSNP variants (sampled 300 via entrez): RS1000097678 (20:23080869 C>G,T), RS1000302257 (20:23080615 C>T), RS1000470607 (20:23084967 C>T), RS1000909399 (20:23079284 T>A,C), RS1001508976 (20:23079517 G>A), RS1002476801 (20:23083119 C>T), RS1002697998 (20:23082282 C>T), RS1002855831 (20:23082851 G>A), RS1002981624 (20:23086948 T>C), RS1003086173 (20:23087455 C>T), RS1003706570 (20:23080949 C>T), RS1004220635 (20:23085893 C>T), RS1004470914 (20:23081934 C>T), RS1004607153 (20:23081642 C>A,T), RS1004815484 (20:23084887 C>A,T)

Disease associations

OMIM: gene MIM:120577 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST001762_118	Obesity-related traits	1.000000e-06
GCST002207_2	Liver enzyme levels (alanine transaminase)	6.000000e-06
GCST003377_2	Venous thromboembolism	2.000000e-08
GCST003377_4	Venous thromboembolism	5.000000e-08
GCST009097_9	Venous thromboembolism	7.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005000	leptin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	4
cobaltous chloride	decreases expression, increases expression	2
Acetaminophen	decreases expression, affects cotreatment, increases expression	2
Nickel	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Triclosan	decreases expression, increases methylation	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
sodium bichromate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, decreases expression	1
gardiquimod	decreases expression, decreases reaction	1
Vorinostat	decreases expression	1
Leflunomide	increases expression	1
Air Pollutants, Occupational	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Dietary Carbohydrates	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Methotrexate	decreases expression	1
Mustard Gas	increases expression	1
Quercetin	increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tretinoin	increases expression	1
Fluorescein-5-isothiocyanate	affects binding	1
Protein Kinase Inhibitors	decreases expression, decreases reaction	1

Cellosaurus cell lines

2 cell lines: 1 spontaneously immortalized cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E6PS	Genomeditech CHO-K1 H_CD93	Spontaneously immortalized cell line	Female
CVCL_E6TG	Genomeditech HEK-293 H_CD93	Transformed cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.