CD55
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Also known as CRTCCROM
Summary
CD55 (CD55 molecule (Cromer blood group), HGNC:2665) is a protein-coding gene on chromosome 1q32.2, encoding Complement decay-accelerating factor (P08174). This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation.
This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce soluble proteins.
Source: NCBI Gene 1604 — RefSeq curated summary.
At a glance
- Gene–disease (curated): protein-losing enteropathy (Strong, GenCC)
- GWAS associations: 4
- Clinical variants (ClinVar): 293 total — 18 pathogenic, 10 likely-pathogenic
- Phenotypes (HPO): 32
- Druggable target: yes
- MANE Select transcript:
NM_000574
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2665 |
| Approved symbol | CD55 |
| Name | CD55 molecule (Cromer blood group) |
| Location | 1q32.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CR, TC, CROM |
| Ensembl gene | ENSG00000196352 |
| Ensembl biotype | protein_coding |
| OMIM | 125240 |
| Entrez | 1604 |
Gene structure
Transcript identifiers
Ensembl transcripts: 34 — 23 protein_coding, 7 retained_intron, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000314754, ENST00000343420, ENST00000367063, ENST00000367064, ENST00000391921, ENST00000465534, ENST00000476590, ENST00000488171, ENST00000618707, ENST00000634386, ENST00000635614, ENST00000644836, ENST00000645323, ENST00000695822, ENST00000695823, ENST00000695824, ENST00000695825, ENST00000695826, ENST00000695827, ENST00000695828, ENST00000695829, ENST00000695830, ENST00000695831, ENST00000945373, ENST00000945374, ENST00000945375, ENST00000945376, ENST00000945377, ENST00000945378, ENST00000945379, ENST00000945380, ENST00000945381, ENST00000945382, ENST00000945383
RefSeq mRNA: 5 — MANE Select: NM_000574
NM_000574, NM_001114752, NM_001300902, NM_001300903, NM_001300904
CCDS: CCDS31006, CCDS44307, CCDS73022, CCDS86046, CCDS86047
Canonical transcript exons
ENST00000367064 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001631743 | 207359546 | 207360966 |
| ENSE00001840627 | 207321678 | 207321865 |
| ENSE00003545943 | 207331108 | 207331296 |
| ENSE00003965124 | 207322382 | 207322567 |
| ENSE00003965125 | 207337329 | 207337409 |
| ENSE00003965130 | 207324559 | 207324750 |
| ENSE00003965131 | 207325622 | 207325721 |
| ENSE00003965134 | 207326752 | 207326837 |
| ENSE00003965135 | 207339397 | 207339417 |
| ENSE00003965142 | 207336693 | 207336818 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 99.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 166.8278 / max 8129.0916, expressed in 1815 samples.
FANTOM5 promoters (25 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 8216 | 151.4046 | 1811 |
| 8215 | 5.1992 | 1556 |
| 8244 | 2.3122 | 682 |
| 8220 | 1.4762 | 483 |
| 8225 | 0.9660 | 474 |
| 8227 | 0.7377 | 346 |
| 8245 | 0.6290 | 223 |
| 8230 | 0.5162 | 218 |
| 8232 | 0.4060 | 161 |
| 8221 | 0.3949 | 171 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.53 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 99.29 | gold quality |
| right lung | UBERON:0002167 | 99.00 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.00 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 98.97 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 98.79 | gold quality |
| upper lobe of lung | UBERON:0008948 | 98.58 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.56 | gold quality |
| blood | UBERON:0000178 | 98.45 | gold quality |
| synovial joint | UBERON:0002217 | 98.42 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.17 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 98.07 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 98.07 | gold quality |
| monocyte | CL:0000576 | 98.05 | gold quality |
| lung | UBERON:0002048 | 98.04 | gold quality |
| visceral pleura | UBERON:0002401 | 97.97 | gold quality |
| right adrenal gland | UBERON:0001233 | 97.89 | gold quality |
| upper leg skin | UBERON:0004262 | 97.87 | gold quality |
| mononuclear cell | CL:0000842 | 97.84 | gold quality |
| leukocyte | CL:0000738 | 97.80 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 97.79 | gold quality |
| adrenal gland | UBERON:0002369 | 97.75 | gold quality |
| adrenal cortex | UBERON:0001235 | 97.67 | gold quality |
| placenta | UBERON:0001987 | 97.63 | gold quality |
| skin of hip | UBERON:0001554 | 97.59 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 97.59 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 97.56 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 97.53 | gold quality |
| bronchial epithelial cell | CL:0002328 | 97.48 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.47 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-24 | yes | 3008.48 |
| E-MTAB-10283 | yes | 1328.19 |
| E-CURD-114 | yes | 57.29 |
| E-HCAD-10 | yes | 47.99 |
| E-MTAB-6701 | yes | 41.16 |
| E-MTAB-10287 | yes | 34.95 |
| E-CURD-112 | yes | 18.98 |
| E-MTAB-9221 | yes | 18.31 |
| E-GEOD-130148 | yes | 13.59 |
| E-MTAB-9801 | yes | 8.69 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): AHR, DNMT1, FOXO3, IRF6, KDM5A, KLF4, KLF5, SP1
miRNA regulators (miRDB)
107 targeting CD55, 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-12118 | 100.00 | 65.88 | 1270 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-6891-5P | 99.98 | 66.53 | 1372 |
| HSA-MIR-3173-3P | 99.98 | 66.49 | 1217 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
Literature-anchored findings (GeneRIF, showing 40)
- bFGF and VEGF were synergistic in terms of DAF expression, resulting in enhanced endothelial cytoprotection (PMID:11832343)
- The expression of hMCP on tissues where hDAF is not expressed could provide these tissues with protection against human complement mediated lysis. (PMID:11983016)
- identify the important Dr adhesin-binding and comlplement regulatory residues of human decay-accelerating factor SCR-3 (PMID:12117960)
- results indicate that interaction with DAF on the apical surface of polarized epithelial cells facilitates infection by a subset of coxsackie B virus isolates (PMID:12186929)
- The role of DAF in regulating alternative and classical pathway C3 activation was investigated. (PMID:12393518)
- VEGF produced by tumours to stimulate angiogenesis, also up-regulates endothelial cell surface expression of CD55 and stimulates the release of matrix degrading metalloproteinases. (PMID:12445304)
- x-ray structure of a pathogen-binding fragment of human CD55 at 1.7 angstrom resolution containing two of the three domains required for regulation of human complement (PMID:12499389)
- Antigen-presenting cell exosomes are protected from complement-mediated lysis by expression of CD55 and CD59. (PMID:12645951)
- Afa/Dr diffusely adhering E. coli induced IL-8 production and transepithelial migration of polymorphonuclear leukocytes in polarized monolayers of the T84 cell line; after PMNL migration, expression of DAF was enhanced, increasing the bacterial adhesion (PMID:12654791)
- In neutrophils, GPI-anchored normal cellular prion and this protein exhibit different biological properties. (PMID:12659837)
- hCD55 expressed in rat hearts not only inhibits complement activation, but also human leukocyte adhesion and apparently functions as an anti-adhesion molecule (PMID:12664211)
- DAF seems to occupy a groove on the CP convertase such that both faces of DAF close to the 2-3 junction (including a positively charged region that encircles the protein at this point) interact simultaneously. (PMID:12672958)
- a new functional role of CD55 as a member of a multimeric LPS receptor complex. (PMID:12731067)
- Enhanced expression of the complement regulatory protein CD55 is associated with colorectal cancer (PMID:12811528)
- Although CD55 and CD59 deficiency in primary or secondary AIHA, it appears that this defect plays a facilitator rather than a triggering role for the hemolytic process. (PMID:12880676)
- Since DAF is abundantly expressed in epithelial and endothelial cells, interaction of cardiotropic Coxsackie Virus B with the DAF coreceptor protein, in addition to CAR, could therefore be advantageous to the virus by enhancing viral entry into the heart. (PMID:12920584)
- In transgenic pigs, delays xenograft heart rejection in baboons treated with immunosuppressive agents. (PMID:12950987)
- Antiadhesive role of apical decay-accelerating factor (CD55) in human neutrophil transmigration across mucosal epithelia. (PMID:14530374)
- community-circulating strains of Coxsackie virus A21 can infect target cells expressing intercellular adhesion molecule 1 or DAF alone and that such interactions extend tissue tropism and impact directly on viral pathogenesis. (PMID:14722298)
- interaction with the convertase, and thus complement regulation, depends on the burial of a hydrophobic patch centered on the linker between SCR domains 2 and 3. (PMID:14734808)
- Pigs transgenic for human DAF express very low levels of human DAF on embryonic neural tissue. (PMID:14962294)
- Regions of DAF interact wiwth enteroviruses and may predict specific virus-receptor contacts. (PMID:14993659)
- Serum DAF concentrations are increased in ulcerative colitis patients in relation to disease activity. (PMID:15007304)
- UEA-1 agglutinin binds to DAF in colonic mucosa and the product is excreted in feces of patients with colon cancer and colitis. (PMID:15007307)
- CD55 and CD59 have roles in preventing progression of breast carcinomas (PMID:15102687)
- in vitro E. coli invasion of an epithelial cell line is directly related to NO-regulated expression of DAF (PMID:15102803)
- Significant difference in intensity of the staining of CD55 and CD46 among cells in various layers of normal esophageal mucosa and esophageal carcinoma cells, but not in the staining of CD59. (PMID:15151618)
- Use of PKC agonists and isozyme-specific pseudosubstrate peptide antagonists suggested a role for PKCalpha and -epsilon in VEGF-mediated DAF up-regulation, mediating A cytoprotective pathway in ECs. (PMID:15284224)
- In transgenic swine, significantly increased survival time of kidney xenograft to baboons. (PMID:15350460)
- During respiratory syncytial virus assembly in Hep2 cells, the cellular distribution of the complement regulatory protein, decay accelerating factor (CD55) changes and high levels of this cellular protein are incorporated into mature virus filaments. (PMID:15351205)
- For DAF to function on natural killer (NK) cells, short consensus repeat motifs 2-4 of DAF are required. Downregulation by DAF expression in NK cell-mediated pig endothelial cell lysis is distinct, and very effective. (PMID:15356143)
- Does not provide additional bbenefit in preventing graft rejection in transgenic pig-baboon heart transplantation. (PMID:15385816)
- DAF has a role in controlling the complement cascade (PMID:15536079)
- interaction of DAF-binding coxsackievirus B3 isolate with soluble or cell surface DAF did not induce formation of A particles (PMID:15596863)
- a splice variant of decay-accelerating factor is expressed in c-erbB-2-positive mammary carcinoma cells showing increased transendothelial invasiveness (PMID:15721309)
- hDAF transgene blocks hyperacute graft rejection of porcie islets into alloxan diabetic ratsl (PMID:15808680)
- Hyperacute xenograft rejection of pig hearts into baboons was prevented by immunosorption and human DAF transgenic donor hearts. (PMID:15808683)
- Transgenic human DAF improves the performance of pig hearts by reducing myocardial damage and intravascular thrombosis after heart translpantation. (PMID:15808686)
- Protective role of hDAF in pig cells to heterologus complement mediated damage in vitro. (PMID:15808692)
- swine vesicular disease virus isolates from early and recent outbreaks have been compared for their capacity to utilize the progenitor virus receptors coxsackie-adenovirus receptor and decay-accelerating factor (PMID:15831949)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Cd55 | ENSMUSG00000026399 |
| mus_musculus | Cd55b | ENSMUSG00000026401 |
| rattus_norvegicus | Cd55 | ENSRNOG00000003927 |
Paralogs (39): CFH (ENSG00000000971), SELE (ENSG00000007908), C8B (ENSG00000021852), C6 (ENSG00000039537), SEZ6 (ENSG00000063015), CFHR2 (ENSG00000080910), APOH (ENSG00000091583), SEZ6L (ENSG00000100095), SUSD6 (ENSG00000100647), SRPX (ENSG00000101955), SRPX2 (ENSG00000102359), C7 (ENSG00000112936), C9 (ENSG00000113600), PAPPA2 (ENSG00000116183), CFHR3 (ENSG00000116785), CR2 (ENSG00000117322), CD46 (ENSG00000117335), CSMD2 (ENSG00000121904), C4BPA (ENSG00000123838), C4BPB (ENSG00000123843), CFHR4 (ENSG00000134365), CFHR5 (ENSG00000134389), F13B (ENSG00000143278), SUSD4 (ENSG00000143502), C8A (ENSG00000157131), SUSD3 (ENSG00000157303), CSMD3 (ENSG00000164796), SVEP1 (ENSG00000165124), C2 (ENSG00000166278), SELP (ENSG00000174175), SEZ6L2 (ENSG00000174938), PRF1 (ENSG00000180644), PAPPA (ENSG00000182752), CSMD1 (ENSG00000183117), SELL (ENSG00000188404), CR1L (ENSG00000197721), CR1 (ENSG00000203710), CFB (ENSG00000243649), CFHR1 (ENSG00000244414)
Protein
Protein identifiers
Complement decay-accelerating factor — P08174 (reviewed: P08174)
All UniProt accessions (11): A0A2R8Y4B4, A0A2R8YDY3, A0A2R8YEC5, A0A8Q3SI51, A0A8Q3SI94, A0A8Q3WKT6, A0A8Q3WLV2, B1AP13, P08174, B1AP15, H3BLV0
UniProt curated annotations — full annotation on UniProt →
Function. This protein recognizes C4b and C3b fragments that condense with cell-surface hydroxyl or amino groups when nascent C4b and C3b are locally generated during C4 and c3 activation. Interaction of daf with cell-associated C4b and C3b polypeptides interferes with their ability to catalyze the conversion of C2 and factor B to enzymatically active C2a and Bb and thereby prevents the formation of C4b2a and C3bBb, the amplification convertases of the complement cascade. Inhibits complement activation by destabilizing and preventing the formation of C3 and C5 convertases, which prevents complement damage. (Microbial infection) Acts as a receptor for Coxsackievirus A21, coxsackieviruses B1, B3 and B5. (Microbial infection) Acts as a receptor for Human enterovirus 70 and D68. (Microbial infection) Acts as a receptor for Human echoviruses 6, 7, 11, 12, 20 and 21.
Subunit / interactions. Monomer (major form) and non-disulfide-linked, covalent homodimer (minor form). Interacts with ADGRE5. (Microbial infection) Interacts with coxsackievirus A21, coxsackieviruses B1, B3 and B5 capsid proteins. (Microbial infection) Interacts with human enterovirus 70 and D68 capsid proteins. (Microbial infection) Interacts with human echoviruses 6, 7, 11, 12, 20 and 21 capsid proteins.
Subcellular location. Cell membrane Cell membrane Secreted Secreted Secreted Cell membrane Cell membrane.
Tissue specificity. Expressed on the plasma membranes of all cell types that are in intimate contact with plasma complement proteins. It is also found on the surfaces of epithelial cells lining extracellular compartments, and variants of the molecule are present in body fluids and in extracellular matrix.
Post-translational modifications. The Ser/Thr-rich domain is heavily O-glycosylated.
Disease relevance. Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) [MIM:226300] An autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients’ T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a. The disease is caused by variants affecting the gene represented in this entry. CHAPLE is caused by biallelic mutations in the CD55 gene.
Domain organisation. The first Sushi domain (SCR1) is not necessary for function. SCR2 and SCR4 provide the proper conformation for the active site on SCR3.
Polymorphism. Responsible for the Cromer blood group system (CROM) [MIM:613793]. It consists of at least 8 high-incidence (Cr(a), Tc(a), Dr(a), Es(a), WES(b), UMC, IFC and GUTI) and three low-incidence (Tc(b), Tc(c) and WES(a)) antigens that reside on DAF. In the Cromer phenotypes Dr(a-) and Inab there is reduced or absent expression of DAF, respectively. In the case of the Dr(a-) phenotype, a single nucleotide substitution within exon 5 accounts for two changes: a simple amino acid substitution, Leu-199 that is the basis of the antigenic variation, and an alternative splicing event that underlies the decreased expression of DAF in this phenotype. The Inab phenotype is a very rare one in which the red blood cells lack all Cromer system antigens. The red blood cells of individuals with Inab phenotype have a deficiency of DAF, but these individuals are not known to have any associated hematologic or other abnormalities.
Miscellaneous. Includes partial sequence of the intron 7. Includes full sequence of the intron 7.
Similarity. Belongs to the receptors of complement activation (RCA) family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P08174-1 | 2, DAF-2 | yes |
| P08174-2 | 1, DAF-1 | |
| P08174-3 | 3, VDAF3 | |
| P08174-4 | 4, VDAF2 | |
| P08174-5 | 5, VDAF1 | |
| P08174-6 | 6, VDAF4 | |
| P08174-7 | 7, VDAF5 |
RefSeq proteins (5): NP_000565, NP_001108224, NP_001287831, NP_001287832, NP_001287833 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000436 | Sushi_SCR_CCP_dom | Domain |
| IPR035976 | Sushi/SCR/CCP_sf | Homologous_superfamily |
| IPR050350 | Compl-Cell_Adhes-Reg | Family |
Pfam: PF00084
UniProt features (65 total): strand 25, disulfide bond 8, sequence variant 7, splice variant 6, domain 4, sequence conflict 4, turn 2, compositionally biased region 2, signal peptide 1, chain 1, lipid moiety-binding region 1, glycosylation site 1, propeptide 1, helix 1, region of interest 1
Structure
Experimental structures (PDB)
33 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1H03 | X-RAY DIFFRACTION | 1.7 |
| 1H04 | X-RAY DIFFRACTION | 2 |
| 1OK3 | X-RAY DIFFRACTION | 2.2 |
| 1OJV | X-RAY DIFFRACTION | 2.3 |
| 1OJW | X-RAY DIFFRACTION | 2.3 |
| 1OK2 | X-RAY DIFFRACTION | 2.5 |
| 1OJY | X-RAY DIFFRACTION | 2.6 |
| 1OK1 | X-RAY DIFFRACTION | 2.6 |
| 8K9T | ELECTRON MICROSCOPY | 2.66 |
| 8K9R | ELECTRON MICROSCOPY | 2.68 |
| 1H2P | X-RAY DIFFRACTION | 2.8 |
| 6LA5 | ELECTRON MICROSCOPY | 2.86 |
| 1H2Q | X-RAY DIFFRACTION | 3 |
| 1OK9 | X-RAY DIFFRACTION | 3 |
| 1UOT | X-RAY DIFFRACTION | 3 |
| 6ILK | ELECTRON MICROSCOPY | 3 |
| 7VY6 | ELECTRON MICROSCOPY | 3.02 |
| 8B8R | ELECTRON MICROSCOPY | 3.1 |
| 7VY5 | ELECTRON MICROSCOPY | 3.15 |
| 7DO4 | X-RAY DIFFRACTION | 3.2 |
| 6ILJ | ELECTRON MICROSCOPY | 3.6 |
| 7C9W | ELECTRON MICROSCOPY | 3.6 |
| 8B9F | ELECTRON MICROSCOPY | 3.93 |
| 5FOA | X-RAY DIFFRACTION | 4.19 |
| 3IYP | ELECTRON MICROSCOPY | 7.2 |
| 3J24 | ELECTRON MICROSCOPY | 9 |
| 2C8I | ELECTRON MICROSCOPY | 14 |
| 2QZD | ELECTRON MICROSCOPY | 14 |
| 2QZF | ELECTRON MICROSCOPY | 14 |
| 2QZH | ELECTRON MICROSCOPY | 14 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P08174-F1 | 78.99 | 0.66 |
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 (1): 353
Disulfide bonds (8): 36–81, 65–94, 98–145, 129–158, 163–204, 190–220, 225–267, 253–283
Glycosylation sites (1): 95
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-373080 | Class B/2 (Secretin family receptors) |
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-6807878 | COPI-mediated anterograde transport |
| R-HSA-977606 | Regulation of Complement cascade |
MSigDB gene sets: 527 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, MCLACHLAN_DENTAL_CARIES_UP, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION_INVOLVED_IN_IMMUNE_RESPONSE, GOLDRATH_IMMUNE_MEMORY, MODULE_45, MODULE_64, GOCC_CELL_SURFACE
GO Biological Process (16): positive regulation of T cell cytokine production (GO:0002726), complement activation, classical pathway (GO:0006958), positive regulation of cytosolic calcium ion concentration (GO:0007204), regulation of complement activation (GO:0030449), regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664), innate immune response (GO:0045087), respiratory burst (GO:0045730), negative regulation of complement activation (GO:0045916), regulation of complement-dependent cytotoxicity (GO:1903659), positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516), positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563), immune system process (GO:0002376), regulation of lymphocyte mediated immunity (GO:0002706), regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains (GO:0002822), symbiont entry into host cell (GO:0046718), regulation of immune response (GO:0050776)
GO Molecular Function (3): virus receptor activity (GO:0001618), lipid binding (GO:0008289), protein binding (GO:0005515)
GO Cellular Component (12): Golgi membrane (GO:0000139), extracellular region (GO:0005576), plasma membrane (GO:0005886), cell surface (GO:0009986), transport vesicle (GO:0030133), secretory granule membrane (GO:0030667), endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116), membrane raft (GO:0045121), extracellular exosome (GO:0070062), side of membrane (GO:0098552), ficolin-1-rich granule membrane (GO:0101003), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| GPCR ligand binding | 1 |
| Innate Immune System | 1 |
| ER to Golgi Anterograde Transport | 1 |
| Complement cascade | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| complement activation | 3 |
| bounding membrane of organelle | 3 |
| immune response | 2 |
| binding | 2 |
| membrane | 2 |
| T cell cytokine production | 1 |
| positive regulation of T cell mediated immunity | 1 |
| positive regulation of cytokine production involved in immune response | 1 |
| regulation of T cell cytokine production | 1 |
| humoral immune response mediated by circulating immunoglobulin | 1 |
| regulation of biological quality | 1 |
| regulation of immune effector process | 1 |
| regulation of humoral immune response | 1 |
| regulation of response to biotic stimulus | 1 |
| regulation of signal transduction | 1 |
| lipopolysaccharide-mediated signaling pathway | 1 |
| regulation of response to external stimulus | 1 |
| defense response to symbiont | 1 |
| metabolic process | 1 |
| negative regulation of immune effector process | 1 |
| negative regulation of humoral immune response | 1 |
| regulation of complement activation | 1 |
| regulation of cell killing | 1 |
| complement-dependent cytotoxicity | 1 |
| CD4-positive, alpha-beta T cell activation | 1 |
| positive regulation of alpha-beta T cell activation | 1 |
| regulation of CD4-positive, alpha-beta T cell activation | 1 |
| CD4-positive, alpha-beta T cell proliferation | 1 |
| positive regulation of alpha-beta T cell proliferation | 1 |
| positive regulation of CD4-positive, alpha-beta T cell activation | 1 |
| regulation of CD4-positive, alpha-beta T cell proliferation | 1 |
| biological_process | 1 |
| lymphocyte mediated immunity | 1 |
| regulation of leukocyte mediated immunity | 1 |
| adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains | 1 |
| regulation of adaptive immune response | 1 |
| viral life cycle | 1 |
| symbiont entry into host | 1 |
| regulation of immune system process | 1 |
Protein interactions and networks
STRING
2116 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CD55 | ADGRE5 | P48960 | 998 |
| CD55 | ADGRE2 | Q9UHX3 | 998 |
| CD55 | C3 | P01024 | 994 |
| CD55 | C4A | P01028 | 985 |
| CD55 | CD59 | P13987 | 981 |
| CD55 | C4A | P01028 | 974 |
| CD55 | PIGA | P37287 | 930 |
| CD55 | ICAM1 | P05362 | 913 |
| CD55 | CXADR | P78310 | 859 |
| CD55 | ADGRE3 | Q9BY15 | 821 |
| CD55 | PGAP1 | Q75T13 | 817 |
| CD55 | CD46 | P15529 | 786 |
| CD55 | SERPING1 | P05155 | 717 |
| CD55 | CFP | P27918 | 709 |
| CD55 | ACHE | P22303 | 704 |
IntAct
48 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CD55 | ADGRE5 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| CFTR | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.480 |
| CD55 | ADGRE2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RAP1BL | psi-mi:“MI:0915”(physical association) | 0.400 | |
| C2 | CD55 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD55 | CHI3L1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CD55 | RPS4Y1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NFE2L2 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| Npc1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PDGFRA | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| NOTCH2 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| ST14 | LIPT2 | psi-mi:“MI:0914”(association) | 0.350 |
| C1QTNF7 | AGRN | psi-mi:“MI:0914”(association) | 0.350 |
| HFE | PODXL | psi-mi:“MI:0914”(association) | 0.350 |
| HPN | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| LY86 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.350 |
| PDCD2 | PRMT3 | psi-mi:“MI:0914”(association) | 0.350 |
| CD55 | CCNB1 | psi-mi:“MI:0914”(association) | 0.350 |
| FLVCR2 | PLPP1 | psi-mi:“MI:0914”(association) | 0.350 |
| MFSD4A | TIMM23 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (87): CHI3L1 (Affinity Capture-MS), C6orf120 (Affinity Capture-MS), CD55 (Co-localization), CD55 (Affinity Capture-MS), CHI3L1 (Affinity Capture-MS), CD55 (Affinity Capture-MS), CD55 (Affinity Capture-MS), CD55 (Affinity Capture-MS), CD55 (Affinity Capture-MS), CD55 (Affinity Capture-MS), CD55 (Affinity Capture-MS), CD55 (Affinity Capture-MS), CD55 (Affinity Capture-MS), CD55 (Affinity Capture-MS), CD55 (Affinity Capture-MS)
ESM2 similar proteins: O02839, O08569, O19124, O62685, O62837, O88174, P02749, P04003, P05160, P06909, P08174, P08603, P08607, P15529, P16109, P17690, P19070, P20023, P26644, P33703, P36980, P42201, P49457, P70105, P79138, P98109, Q01339, Q02985, Q03472, Q03591, Q07968, Q22328, Q28065, Q28768, Q2VPA4, Q5R4D0, Q60401, Q60736, Q61475, Q61476
Diamond homologs: A0A182C2Z2, A0JNA2, B3EX01, E7FEC4, O08569, O19124, O57254, O62685, O62837, O88174, P08174, P0DTN2, P15529, P21115, P24083, P24084, P36980, P49457, P79138, P81475, Q01227, Q07968, Q28085, Q29RN8, Q4V9Z5, Q53EL9, Q5R4D0, Q5R8M2, Q5VX71, Q60736, Q63515, Q6AX42, Q6P1D5, Q6UXD5, Q7TSK2, Q7Z408, Q8BH32, Q9BYH1, Q9JF44, Q9W332
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CD55 | up-regulates | ADGRE5 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 57 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| transport across blood-brain barrier | 5 | 17.9× | 5e-03 |
| protein-containing complex assembly | 5 | 11.4× | 1e-02 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
293 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 18 |
| Likely pathogenic | 10 |
| Uncertain significance | 106 |
| Likely benign | 126 |
| Benign | 8 |
Top pathogenic / likely-pathogenic (28)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1457858 | NM_000574.5(CD55):c.508C>T (p.Arg170Ter) | Pathogenic |
| 16871 | NM_000574.5(CD55):c.261G>A (p.Trp87Ter) | Pathogenic |
| 1954302 | NM_000574.5(CD55):c.169G>T (p.Glu57Ter) | Pathogenic |
| 2005054 | NM_000574.5(CD55):c.670dup (p.Tyr224fs) | Pathogenic |
| 2034251 | NM_000574.5(CD55):c.262dup (p.Ser88fs) | Pathogenic |
| 2714425 | NM_000574.5(CD55):c.639G>A (p.Trp213Ter) | Pathogenic |
| 2796629 | NM_000574.5(CD55):c.260G>A (p.Trp87Ter) | Pathogenic |
| 3338382 | NM_000574.5(CD55):c.98G>A (p.Trp33Ter) | Pathogenic |
| 3772257 | NM_000574.5(CD55):c.822_823insAA (p.Glu275fs) | Pathogenic |
| 4077833 | NM_000574.5(CD55):c.147_148delinsAT (p.Glu50Ter) | Pathogenic |
| 427983 | NM_000574.5(CD55):c.43del (p.Leu15fs) | Pathogenic |
| 4292759 | NM_000574.5(CD55):c.367dup (p.Thr123fs) | Pathogenic |
| 431759 | NM_000574.5(CD55):c.596C>T (p.Ser199Leu) | Pathogenic |
| 431760 | NM_000574.5(CD55):c.110del (p.Gly37fs) | Pathogenic |
| 431761 | NM_000574.5(CD55):c.149_150delinsCCTT (p.Glu50fs) | Pathogenic |
| 431762 | NM_000574.5(CD55):c.800G>C (p.Cys267Ser) | Pathogenic |
| 431763 | NM_000574.5(CD55):c.287-1G>A | Pathogenic |
| 4699260 | NM_000574.5(CD55):c.863dup (p.Thr289fs) | Pathogenic |
| 1066401 | NM_000574.5(CD55):c.286+2T>G | Likely pathogenic |
| 1520269 | NM_000574.5(CD55):c.286+1G>A | Likely pathogenic |
| 2083230 | NM_000574.5(CD55):c.579-2A>T | Likely pathogenic |
| 2097227 | NM_000574.5(CD55):c.479-1G>A | Likely pathogenic |
| 2135593 | NM_000574.5(CD55):c.665-1G>A | Likely pathogenic |
| 2630974 | NM_000574.5(CD55):c.517C>T (p.Gln173Ter) | Likely pathogenic |
| 2631765 | NM_000574.5(CD55):c.101-2A>C | Likely pathogenic |
| 3639595 | NM_000574.5(CD55):c.286+2T>A | Likely pathogenic |
| 4725437 | NM_000574.5(CD55):c.123_286+132del | Likely pathogenic |
| 545154 | NC_000001.11:g.(?204033173)(208209798_?)del | Likely pathogenic |
SpliceAI
1612 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:207321861:GTGGG:G | donor_gain | 1.0000 |
| 1:207321863:GGG:G | donor_gain | 1.0000 |
| 1:207321864:GG:G | donor_gain | 1.0000 |
| 1:207321864:GGG:G | donor_gain | 1.0000 |
| 1:207321864:GGGT:G | donor_loss | 1.0000 |
| 1:207321865:GG:G | donor_gain | 1.0000 |
| 1:207321866:G:GG | donor_gain | 1.0000 |
| 1:207321867:T:A | donor_loss | 1.0000 |
| 1:207322378:CTA:C | acceptor_loss | 1.0000 |
| 1:207322379:TA:T | acceptor_loss | 1.0000 |
| 1:207322563:CAATC:C | donor_gain | 1.0000 |
| 1:207322564:AATC:A | donor_gain | 1.0000 |
| 1:207322565:ATC:A | donor_gain | 1.0000 |
| 1:207322566:TC:T | donor_gain | 1.0000 |
| 1:207322567:CG:C | donor_loss | 1.0000 |
| 1:207322568:G:GA | donor_loss | 1.0000 |
| 1:207322568:G:GG | donor_gain | 1.0000 |
| 1:207324746:TAAAA:T | donor_gain | 1.0000 |
| 1:207324748:AAAG:A | donor_loss | 1.0000 |
| 1:207324750:AG:A | donor_loss | 1.0000 |
| 1:207325616:TTCTA:T | acceptor_loss | 1.0000 |
| 1:207325617:TCTA:T | acceptor_loss | 1.0000 |
| 1:207325618:CTAGA:C | acceptor_loss | 1.0000 |
| 1:207325619:TAGA:T | acceptor_loss | 1.0000 |
| 1:207325620:A:AG | acceptor_gain | 1.0000 |
| 1:207325621:G:GG | acceptor_gain | 1.0000 |
| 1:207325621:GA:G | acceptor_gain | 1.0000 |
| 1:207325621:GAGA:G | acceptor_gain | 1.0000 |
| 1:207325621:GAGAA:G | acceptor_gain | 1.0000 |
| 1:207325717:ACAGG:A | donor_gain | 1.0000 |
AlphaMissense
2439 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:207322542:G:C | W87C | 1.000 |
| 1:207322542:G:T | W87C | 1.000 |
| 1:207324725:G:C | W151C | 1.000 |
| 1:207324725:G:T | W151C | 1.000 |
| 1:207326812:G:C | W213C | 1.000 |
| 1:207326812:G:T | W213C | 1.000 |
| 1:207331271:G:C | W276C | 1.000 |
| 1:207331271:G:T | W276C | 1.000 |
| 1:207324723:T:A | W151R | 0.999 |
| 1:207324723:T:C | W151R | 0.999 |
| 1:207326783:T:A | C204S | 0.999 |
| 1:207326784:G:C | C204S | 0.999 |
| 1:207326785:T:G | C204W | 0.999 |
| 1:207326810:T:A | W213R | 0.999 |
| 1:207326810:T:C | W213R | 0.999 |
| 1:207326831:T:A | C220S | 0.999 |
| 1:207326832:G:C | C220S | 0.999 |
| 1:207331242:T:A | C267S | 0.999 |
| 1:207331243:G:C | C267S | 0.999 |
| 1:207331269:T:A | W276R | 0.999 |
| 1:207331269:T:C | W276R | 0.999 |
| 1:207331290:T:A | C283S | 0.999 |
| 1:207331291:G:C | C283S | 0.999 |
| 1:207322474:T:A | C65S | 0.998 |
| 1:207322475:G:C | C65S | 0.998 |
| 1:207324657:T:A | C129S | 0.998 |
| 1:207324658:G:C | C129S | 0.998 |
| 1:207324705:T:A | C145S | 0.998 |
| 1:207324706:G:C | C145S | 0.998 |
| 1:207325711:T:A | C190S | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000090941 (1:207354905 T>C), RS1000117414 (1:207344979 G>A), RS1000134556 (1:207324386 T>C), RS1000142063 (1:207326307 T>C), RS1000145669 (1:207323138 T>C), RS1000199917 (1:207349302 C>A), RS1000329858 (1:207329578 A>G,T), RS1000369164 (1:207356875 C>T), RS1000520848 (1:207350029 T>C,G), RS1000592925 (1:207360544 A>G), RS1000656536 (1:207350199 A>G), RS1000742550 (1:207327934 C>T), RS1000823128 (1:207357249 G>C), RS1000846516 (1:207334918 A>G), RS1000878949 (1:207334586 C>T)
Disease associations
OMIM: gene MIM:125240 | disease phenotypes: MIM:226300, MIM:209850
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| protein-losing enteropathy | Strong | Autosomal recessive |
Mondo (2): protein-losing enteropathy (MONDO:0009174), autism (MONDO:0005260)
Orphanet (1): Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome (Orphanet:566175)
HPO phenotypes
32 total (30 of 32 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000821 | Hypothyroidism |
| HP:0000969 | Edema |
| HP:0001217 | Clubbing |
| HP:0001510 | Growth delay |
| HP:0001541 | Ascites |
| HP:0001891 | Iron deficiency anemia |
| HP:0001894 | Thrombocytosis |
| HP:0001903 | Anemia |
| HP:0002013 | Vomiting |
| HP:0002014 | Diarrhea |
| HP:0002024 | Malabsorption |
| HP:0002027 | Abdominal pain |
| HP:0002204 | Pulmonary embolism |
| HP:0002240 | Hepatomegaly |
| HP:0002242 | Abnormal intestine morphology |
| HP:0002243 | Protein-losing enteropathy |
| HP:0002593 | Intestinal lymphangiectasia |
| HP:0002639 | Budd-Chiari syndrome |
| HP:0002719 | Recurrent infections |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0002829 | Arthralgia |
| HP:0003073 | Hypoalbuminemia |
| HP:0003075 | Hypoproteinemia |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0004313 | Decreased circulating immunoglobulin concentration |
| HP:0005214 | Intestinal obstruction |
| HP:0007430 | Generalized edema |
| HP:0011463 | Childhood onset |
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003455_45 | Spherical equivalent (joint analysis main effects and education interaction) | 3.000000e-12 |
| GCST003455_46 | Spherical equivalent (joint analysis main effects and education interaction) | 2.000000e-08 |
| GCST006291_31 | Spherical equivalent or myopia (age of diagnosis) | 3.000000e-13 |
| GCST010002_375 | Refractive error | 2.000000e-54 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004784 | self reported educational attainment |
| EFO:0004847 | age at onset |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
| D011504 | Protein-Losing Enteropathies | C06.405.469.818 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4879428 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — CD molecules
CTD chemical–gene interactions
126 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression, decreases methylation | 6 |
| Cyclosporine | affects expression, increases expression, affects cotreatment | 5 |
| Estradiol | affects cotreatment, decreases expression, increases expression | 4 |
| bisphenol A | increases methylation, affects expression, increases expression, affects cotreatment | 3 |
| sodium arsenite | decreases expression, increases expression | 3 |
| Zoledronic Acid | increases expression | 3 |
| Tunicamycin | increases expression | 3 |
| methylmercuric chloride | decreases expression | 2 |
| deoxynivalenol | increases expression | 2 |
| perfluorooctanoic acid | increases expression, affects cotreatment | 2 |
| Arsenic Trioxide | decreases expression, increases expression | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Air Pollutants | increases expression, increases abundance | 2 |
| Cisplatin | affects response to substance, increases expression | 2 |
| Doxorubicin | affects expression, decreases expression | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Tretinoin | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression, increases expression | 2 |
| 4-hydroxy-7-oxo-5-heptenoic acid lactone | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bis(tri-n-butyltin)oxide | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects expression | 1 |
| o,p’-DDT | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4813497 | Binding | Positive allosteric modulation of human muscarinic acetylcholine M4/Gqi5 receptor expressed in CHO cells in presence of acetylcholine at EC20 concentration by calcium mobilization assay | Discovery of a novel class of heteroaryl-pyrrolidinones as positive allosteric modulators of the muscarinic acetylcholine receptor M1. — Bioorg Med Chem Lett |
Cellosaurus cell lines
5 cell lines: 4 cancer cell line, 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D9BH | Ubigene HEK293 CD55 KO | Transformed cell line | Female |
| CVCL_D9ZP | Ubigene HeLa CD55 KO | Cancer cell line | Female |
| CVCL_E1GA | Abcam MCF-7 CD55 KO | Cancer cell line | Female |
| CVCL_SH85 | HAP1 CD55 (-) 1 | Cancer cell line | Male |
| CVCL_SH86 | HAP1 CD55 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
- Associated diseases: protein-losing enteropathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): protein-losing enteropathy