CD55 (CD55 molecule (Cromer blood group))

Gene

• Entrez ID: 1604
• Gene name: CD55 molecule (Cromer blood group)
• Gene symbol: CD55
• Synonyms (NCBI Gene): CHAPLE, CR, CROM, DAF, TC
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: 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 t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909603	G>A	Affects	Stop gained, non coding transcript variant, coding sequence variant
rs869312818	G>A	Affects	Missense variant, coding sequence variant, non coding transcript variant
rs1114167430	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1131690771	C>A	Affects	Stop gained, coding sequence variant, non coding transcript variant
rs1135402914	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1135402915	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1135402916	AA>CCTT	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1135402917	G>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1135402918	G>A	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021757	hsa-miR-132-3p	Microarray	17612493
MIRT022237	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT031474	hsa-miR-16-5p	Proteomics	18668040
MIRT052481	hsa-let-7a-5p	CLASH	23622248
MIRT507832	hsa-miR-548m	HITS-CLIP	21572407
MIRT507831	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT507830	hsa-miR-142-5p	HITS-CLIP	21572407
MIRT507828	hsa-miR-5590-3p	HITS-CLIP	21572407
MIRT507829	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT507827	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT507825	hsa-miR-340-5p	HITS-CLIP	21572407
MIRT507824	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT704850	hsa-miR-651-3p	HITS-CLIP	23313552
MIRT704849	hsa-miR-532-5p	HITS-CLIP	23313552
MIRT647883	hsa-miR-1252-5p	HITS-CLIP	23313552
MIRT704848	hsa-miR-5189-3p	HITS-CLIP	23313552
MIRT704847	hsa-miR-192-3p	HITS-CLIP	23313552
MIRT704846	hsa-miR-4776-3p	HITS-CLIP	23313552
MIRT620369	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT647892	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT620366	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT620365	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT647891	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT620361	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620358	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT620357	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT647890	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT647889	hsa-miR-3200-3p	HITS-CLIP	23824327
MIRT647888	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT647887	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT647886	hsa-miR-6884-3p	HITS-CLIP	23824327
MIRT647885	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT647884	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT647883	hsa-miR-1252-5p	HITS-CLIP	23824327
MIRT647882	hsa-miR-3144-3p	HITS-CLIP	23824327
MIRT647881	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT647880	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT647879	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT620369	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620368	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT620367	hsa-miR-1248	HITS-CLIP	23824327
MIRT620366	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT620365	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620364	hsa-miR-3148	HITS-CLIP	23824327
MIRT620363	hsa-miR-6124	HITS-CLIP	23824327
MIRT620362	hsa-miR-3190-3p	HITS-CLIP	23824327
MIRT620361	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620360	hsa-miR-6833-5p	HITS-CLIP	23824327
MIRT620359	hsa-miR-4752	HITS-CLIP	23824327
MIRT620358	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT620357	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT507832	hsa-miR-548m	PAR-CLIP	21572407
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT507830	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT507829	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT507826	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT507825	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT507832	hsa-miR-548m	PAR-CLIP	23446348
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT507830	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT507829	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT507825	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT507832	hsa-miR-548m	PAR-CLIP	23446348
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT507830	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT507829	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT507826	hsa-miR-6853-3p	PAR-CLIP	23446348
MIRT507825	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT458875	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT458874	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT458873	hsa-miR-3609	PAR-CLIP	23592263
MIRT458872	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT458871	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT458870	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT458869	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT458868	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT458867	hsa-miR-656-3p	PAR-CLIP	23592263
MIRT458866	hsa-miR-664a-3p	PAR-CLIP	23592263
MIRT458865	hsa-miR-3938	PAR-CLIP	23592263
MIRT458864	hsa-miR-5697	PAR-CLIP	23592263
MIRT458863	hsa-miR-4645-3p	PAR-CLIP	23592263
MIRT458862	hsa-miR-664b-5p	PAR-CLIP	23592263
MIRT458861	hsa-miR-4489	PAR-CLIP	23592263
MIRT458860	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT458859	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT458858	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT458857	hsa-miR-4278	PAR-CLIP	23592263
MIRT458856	hsa-miR-1297	PAR-CLIP	23592263
MIRT458855	hsa-miR-26a-5p	PAR-CLIP	23592263
MIRT458854	hsa-miR-26b-5p	PAR-CLIP	23592263
MIRT458853	hsa-miR-4465	PAR-CLIP	23592263
MIRT458852	hsa-miR-6516-3p	PAR-CLIP	23592263
MIRT458851	hsa-miR-7977	PAR-CLIP	23592263
MIRT458850	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT733231	hsa-miR-135a-5p	RNA-seq	33674273
MIRT507832	hsa-miR-548m	HITS-CLIP	21572407
MIRT507831	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT507830	hsa-miR-142-5p	HITS-CLIP	21572407
MIRT507828	hsa-miR-5590-3p	HITS-CLIP	21572407
MIRT507829	hsa-miR-410-3p	HITS-CLIP	21572407
MIRT507827	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT507825	hsa-miR-340-5p	HITS-CLIP	21572407
MIRT507824	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT704850	hsa-miR-651-3p	HITS-CLIP	23313552
MIRT704849	hsa-miR-532-5p	HITS-CLIP	23313552
MIRT647883	hsa-miR-1252-5p	HITS-CLIP	23313552
MIRT704848	hsa-miR-5189-3p	HITS-CLIP	23313552
MIRT704847	hsa-miR-192-3p	HITS-CLIP	23313552
MIRT704846	hsa-miR-4776-3p	HITS-CLIP	23313552
MIRT620369	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT647892	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT620366	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT620365	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT647891	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT620361	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620358	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT620357	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT647890	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT647889	hsa-miR-3200-3p	HITS-CLIP	23824327
MIRT647888	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT647887	hsa-miR-875-5p	HITS-CLIP	23824327
MIRT647886	hsa-miR-6884-3p	HITS-CLIP	23824327
MIRT647885	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT647884	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT647883	hsa-miR-1252-5p	HITS-CLIP	23824327
MIRT647882	hsa-miR-3144-3p	HITS-CLIP	23824327
MIRT647881	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT647880	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT647879	hsa-miR-3692-3p	HITS-CLIP	23824327
MIRT620369	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT620368	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT620367	hsa-miR-1248	HITS-CLIP	23824327
MIRT620366	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT620365	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT620364	hsa-miR-3148	HITS-CLIP	23824327
MIRT620363	hsa-miR-6124	HITS-CLIP	23824327
MIRT620362	hsa-miR-3190-3p	HITS-CLIP	23824327
MIRT620361	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT620360	hsa-miR-6833-5p	HITS-CLIP	23824327
MIRT620359	hsa-miR-4752	HITS-CLIP	23824327
MIRT620358	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT620357	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT507832	hsa-miR-548m	PAR-CLIP	21572407
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT507830	hsa-miR-142-5p	PAR-CLIP	21572407
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	21572407
MIRT507829	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT507826	hsa-miR-6853-3p	PAR-CLIP	21572407
MIRT507825	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT507832	hsa-miR-548m	PAR-CLIP	23446348
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT507830	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT507829	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT507825	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT507832	hsa-miR-548m	PAR-CLIP	23446348
MIRT507831	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT507830	hsa-miR-142-5p	PAR-CLIP	23446348
MIRT507828	hsa-miR-5590-3p	PAR-CLIP	23446348
MIRT507829	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT507827	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT507826	hsa-miR-6853-3p	PAR-CLIP	23446348
MIRT507825	hsa-miR-340-5p	PAR-CLIP	23446348
MIRT507824	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT458875	hsa-miR-548az-5p	PAR-CLIP	23592263
MIRT458874	hsa-miR-548t-5p	PAR-CLIP	23592263
MIRT458873	hsa-miR-3609	PAR-CLIP	23592263
MIRT458872	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT458871	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT458870	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT458869	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT458868	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT458867	hsa-miR-656-3p	PAR-CLIP	23592263
MIRT458866	hsa-miR-664a-3p	PAR-CLIP	23592263
MIRT458865	hsa-miR-3938	PAR-CLIP	23592263
MIRT458864	hsa-miR-5697	PAR-CLIP	23592263
MIRT458863	hsa-miR-4645-3p	PAR-CLIP	23592263
MIRT458862	hsa-miR-664b-5p	PAR-CLIP	23592263
MIRT458861	hsa-miR-4489	PAR-CLIP	23592263
MIRT458860	hsa-miR-6846-5p	PAR-CLIP	23592263
MIRT458859	hsa-miR-6848-5p	PAR-CLIP	23592263
MIRT458858	hsa-miR-542-3p	PAR-CLIP	23592263
MIRT458857	hsa-miR-4278	PAR-CLIP	23592263
MIRT458856	hsa-miR-1297	PAR-CLIP	23592263
MIRT458855	hsa-miR-26a-5p	PAR-CLIP	23592263
MIRT458854	hsa-miR-26b-5p	PAR-CLIP	23592263
MIRT458853	hsa-miR-4465	PAR-CLIP	23592263
MIRT458852	hsa-miR-6516-3p	PAR-CLIP	23592263
MIRT458851	hsa-miR-7977	PAR-CLIP	23592263
MIRT458850	hsa-miR-4760-3p	PAR-CLIP	23592263
MIRT756409	hsa-miR-27a-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36741376
MIRT875821	hsa-miR-1208	CLIP-seq
MIRT875822	hsa-miR-23a	CLIP-seq
MIRT875823	hsa-miR-23b	CLIP-seq
MIRT875824	hsa-miR-23c	CLIP-seq
MIRT875825	hsa-miR-3190	CLIP-seq
MIRT875826	hsa-miR-323-3p	CLIP-seq
MIRT875827	hsa-miR-4420	CLIP-seq
MIRT875828	hsa-miR-4495	CLIP-seq
MIRT875829	hsa-miR-4496	CLIP-seq
MIRT875830	hsa-miR-4666-5p	CLIP-seq
MIRT875831	hsa-miR-4668-3p	CLIP-seq
MIRT875832	hsa-miR-4729	CLIP-seq
MIRT875833	hsa-miR-4778-3p	CLIP-seq
MIRT875834	hsa-miR-578	CLIP-seq
MIRT875835	hsa-miR-581	CLIP-seq
MIRT875836	hsa-miR-651	CLIP-seq
MIRT1959661	hsa-miR-224	CLIP-seq
MIRT1959662	hsa-miR-27a	CLIP-seq
MIRT1959663	hsa-miR-27b	CLIP-seq
MIRT875828	hsa-miR-4495	CLIP-seq
MIRT875830	hsa-miR-4666-5p	CLIP-seq
MIRT1959664	hsa-miR-513a-5p	CLIP-seq
MIRT875834	hsa-miR-578	CLIP-seq
MIRT2196552	hsa-miR-548k	CLIP-seq
MIRT2499734	hsa-miR-33a	CLIP-seq
MIRT2499735	hsa-miR-33b	CLIP-seq
MIRT2499736	hsa-miR-3646	CLIP-seq
MIRT2499737	hsa-miR-4422	CLIP-seq
MIRT2499738	hsa-miR-4709-3p	CLIP-seq
MIRT875832	hsa-miR-4729	CLIP-seq
MIRT2499739	hsa-miR-548u	CLIP-seq
MIRT2499736	hsa-miR-3646	CLIP-seq
MIRT2499737	hsa-miR-4422	CLIP-seq
MIRT2499738	hsa-miR-4709-3p	CLIP-seq
MIRT2499739	hsa-miR-548u	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001618	Function	Virus receptor activity	IDA	7525274
GO:0001618	Function	Virus receptor activity	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002706	Process	Regulation of lymphocyte mediated immunity	IEA
GO:0002726	Process	Positive regulation of T cell cytokine production	IDA	16818763
GO:0002822	Process	Regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	IEA
GO:0005515	Function	Protein binding	IPI	9064337, 11297558
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IDA	6211481
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006958	Process	Complement activation, classical pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	8223854
GO:0008289	Function	Lipid binding	IDA	12731067
GO:0009986	Component	Cell surface	IDA	15907827
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0030133	Component	Transport vesicle	TAS
GO:0030449	Process	Regulation of complement activation	IDA	25284781
GO:0030449	Process	Regulation of complement activation	IEA
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031664	Process	Regulation of lipopolysaccharide-mediated signaling pathway	IDA	12731067
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	TAS
GO:0045087	Process	Innate immune response	IEA
GO:0045121	Component	Membrane raft	IDA	11313396
GO:0045730	Process	Respiratory burst	NAS	8223854
GO:0045916	Process	Negative regulation of complement activation	IDA	6211481
GO:0045916	Process	Negative regulation of complement activation	IMP	28657829
GO:0046718	Process	Symbiont entry into host cell	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 20458337, 23533145
GO:0098552	Component	Side of membrane	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1903659	Process	Regulation of complement-dependent cytotoxicity	IDA	25284781
GO:2000516	Process	Positive regulation of CD4-positive, alpha-beta T cell activation	IDA	16818763
GO:2000563	Process	Positive regulation of CD4-positive, alpha-beta T cell proliferation	IDA	16818763

Other IDs

• MIM: 125240
• HGNC: 2665
• e!Ensembl: ENSG00000196352

Protein

• UniProt ID: P08174
• Protein name: Complement decay-accelerating factor (CD antigen CD55)
• Protein 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 i
• PDB: 1H03, 1H04, 1H2P, 1H2Q, 1M11, 1NWV, 1OJV, 1OJW, 1OJY, 1OK1, 1OK2, 1OK3, 1OK9, 1UOT, 1UPN, 2C8I, 2QZD, 2QZF, 2QZH, 3IYP, 3J24, 5FOA, 6ILJ, 6ILK, 6LA5, 7C9W, 7DO4, 7VY5, 7VY6, 8B8R, 8K9R, 8K9T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	36 → 94	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	98 → 158	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	163 → 220	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	225 → 283	Sushi repeat (SCR repeat)	Domain

• Tissue specificity: 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
• Sequence:

  MTVARPSVPAALPLLGELPRLLLLVLLCLPAVWGDCGLPPDVPNAQPALEGRTSFPEDTV
  ITYKCEESFVKIPGEKDSVICLKGSQWSDIEEFCNRSCEVPTRLNSASLKQPYITQNYFP
  VGTVVEYECRPGYRREPSLSPKLTCLQNLKWSTAVEFCKKKSCPNPGEIRNGQIDVPGGI
  LFGATISFSCNTGYKLFGSTSSFCLISGSSVQWSDPLPECREIYCPAPPQIDNGIIQGER
  DHYGYRQSVTYACNKGFTMIGEHSIYCTVNNDEGEWSGPPPECRGKSLTSKVPPTVQKPT
  TVNVPTTEVSPTSQKTTTKTTTPNAQATRSTPVSRTTKHFHETTPNKGSGTTSGTTRLLS
  GHTCFTLTGLLGTLVTMGLLT

• Sequence length: 381

Pathways

KEGG:

Complement and coagulation cascades
Hematopoietic cell lineage
Viral myocarditis

Reactome:

Class B/2 (Secretin family receptors)
Neutrophil degranulation
COPI-mediated anterograde transport
Regulation of Complement cascade

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
CD55-related disorder	Likely pathogenic	rs376304458, rs1458492476, rs2526922942	RCV003418346 RCV003404348 RCV003397538
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	Likely pathogenic; Pathogenic	rs752360687, rs773074921, rs1114167430, rs1135402914, rs1135402915, rs1135402916, rs1135402917, rs1135402918	RCV002499775 RCV003989924 RCV004577333 RCV004999542 RCV004577334 RCV004577335 RCV004577336 RCV004577337
Cromer blood group system	Likely pathogenic; Pathogenic	rs752360687, rs121909603	RCV002499775 RCV000018367
CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE	Pathogenic	rs1135402914	RCV000497258

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs28371628	RCV005908469
Cervical cancer	Benign; Likely benign	rs200833209, rs750443090	RCV005909551 RCV005932111
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs56253023	RCV005867043
Clear cell carcinoma of kidney	Likely benign	rs147474393	RCV005912892
Familial cancer of breast	Benign; Likely benign	rs200833209	RCV005909550
Gastric cancer	Benign; Likely benign	rs28371603, rs28371628	RCV005912963 RCV005908470
Lung cancer	Benign; Likely benign	rs28371603, rs28371628	RCV005912964 RCV005908471
Sarcoma	Likely benign	rs147474393	RCV005912893
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs28371603, rs28371628	RCV005912965 RCV005908472

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Spontaneous	Associate	24802103
Acquired Immunodeficiency Syndrome	Associate	2471198
Adenocarcinoma	Associate	12032231, 28008159
Adenoma	Associate	1384641
Adenoma	Stimulate	7532345
AIDS Related Complex	Associate	2471198
Alzheimer Disease	Associate	31216356
Anemia	Associate	22761633
Anemia	Inhibit	30429373
Anemia Aplastic	Associate	16179371
Anemia Hemolytic	Associate	22405566, 9238050
Anemia Sickle Cell	Associate	27667587
Arthritis	Associate	28793332
Arthritis Psoriatic	Associate	23006144
Arthritis Rheumatoid	Associate	10211878, 15693006, 22590509, 27424032, 33992645
Arthritis Rheumatoid	Inhibit	9472668
Atherosclerosis	Associate	2474572, 31043156
Atrial Fibrillation	Associate	32389013
Atrophy	Associate	9616315
Berylliosis	Associate	34399367
Bone Marrow Failure Disorders	Associate	19656154
Brain Neoplasms	Associate	26849056
Breast Neoplasms	Associate	15378282, 16367924, 22791584, 24073403
Carcinoma Hepatocellular	Associate	10931136
Carcinoma Non Small Cell Lung	Associate	28008159
Carcinoma Renal Cell	Inhibit	8686736
Carcinoma Signet Ring Cell	Associate	16130195
Carcinoma Small Cell	Associate	7690355
Carotid Artery Diseases	Associate	2474572
Cholangiocarcinoma	Associate	28345461
Colitis Ulcerative	Associate	32190668, 9649185
Colitis Ulcerative	Stimulate	9737666
Colonic Neoplasms	Associate	1384641, 24763553, 8640847, 8801206
Colorectal Neoplasms	Stimulate	11139317, 24978917
Colorectal Neoplasms	Associate	11862418, 12811528, 1384641, 16525993, 36571232, 36741376, 7532345
Complement Component 3 Deficiency Autosomal Recessive	Inhibit	19154662
Coronary Artery Disease	Associate	31555286
COVID 19	Associate	35250994, 37244049
COVID 19	Inhibit	40016722
Cystic Fibrosis	Associate	33349347
Cytokine Release Syndrome	Stimulate	23042280
Death	Associate	28510725, 30306260
Dental Caries	Inhibit	1720702
Depressive Disorder	Associate	16965581
Diabetic Nephropathies	Associate	30988245
Disease	Stimulate	9616315
Drug Related Side Effects and Adverse Reactions	Associate	11719378
Ependymoma	Associate	16525993
Epstein Barr Virus Infections	Associate	39695702
Esophageal Neoplasms	Associate	38244291
Gallbladder Neoplasms	Associate	22547928
Gastritis	Stimulate	9616315
Glioma	Stimulate	30225541
Glomerulonephritis IGA	Associate	30356754, 9648070
Graves Disease	Associate	1279944
Hematologic Diseases	Associate	12186694
Hemoglobinuria Paroxysmal	Associate	10220445, 10934342, 12116342, 15203716, 16493662, 16867159, 1688570, 1688724, 1689598, 1698101, 1702101, 18376800, 19001281, 22696589, 24086391, 2413153, 24463881, 2478585, 26637747, 30262533, 3309123, 3416071, 38335997, 7579441, 7678064, 8615796, 9054654, 9516159
Hemoglobinuria Paroxysmal	Inhibit	12186694, 19154662, 2581636, 28718265
Hemolysis	Associate	2474572
Hepatitis C	Associate	27357152
HIV Infections	Associate	7544808, 8551237
Hypoxia Brain	Associate	16859540
Idiopathic Pulmonary Fibrosis	Associate	24958208
IgA Vasculitis	Associate	9182884
Immunologic Deficiency Syndromes	Associate	11950905, 15926079, 2473800, 26637747, 27357152, 33398182, 35173033, 37244049
Immunologic Deficiency Syndromes	Inhibit	16859540, 28657829
Infections	Associate	24086391
Infections	Stimulate	35851954
Infections	Inhibit	36611893
Inflammation	Associate	10211878, 10693865, 16859540, 25054223, 35250994
Inflammatory Bowel Diseases	Stimulate	9616315
Influenza Human	Associate	28510725
Intestinal Diseases	Associate	35851954, 9616315, 9649185
Kidney Diseases	Associate	28940198, 9648070
Kidney Failure Chronic	Associate	34043214
Kidney Neoplasms	Associate	12791098
Leukemia	Associate	7681703, 8611704
Leukemia Lymphocytic Chronic B Cell	Associate	11719378, 23850806
Leukemia Myeloid Acute	Inhibit	12186694
Leukemia Myeloid Acute	Associate	7681703
Leukemia T Cell	Associate	8615796
Lung Neoplasms	Associate	28008159, 7690355, 9717965
Lupus Erythematosus Systemic	Inhibit	22761633
Lymphatic Metastasis	Associate	28345461
Lymphoma	Associate	16367924
Lymphoma B Cell	Associate	3309123
Lymphoma Follicular	Associate	22718493
Lymphoma Primary Effusion	Associate	36632565
Lymphopenia	Inhibit	22761633
Lymphopenia	Associate	2471198
Malaria	Associate	21727667
Malaria Falciparum	Associate	21727667
Malaria Vivax	Inhibit	30429373
Melanoma	Associate	2450893
Mixed Tumor Mullerian	Associate	22498937
Multiple Myeloma	Associate	27307294, 36359760
Multiple Sclerosis	Associate	33992645
Myocardial Infarction	Stimulate	32389013
Nasopharyngeal Carcinoma	Associate	39695702
Neoplasm Invasiveness	Associate	28345461
Neoplasm Metastasis	Associate	22547928, 30203045
Neoplasms	Associate	10744069, 11520782, 11950905, 12032231, 12811528, 1384641, 15726105, 15971270, 16130195, 16485129, 16525993, 16612594, 17903221, 18561323, 20221634, 22547928, 22553215, 23474221, 2450893, 28008159, 30519000, 33992645, 35851954, 36571232, 37880350, 7532345, 8686736, 9358772
Neoplasms	Stimulate	11139317
Neoplasms Cystic Mucinous and Serous	Associate	22531721
Neutropenia	Inhibit	22761633
Osteoarthritis	Associate	18775662, 25054223
Ovarian Neoplasms	Associate	16640659, 30622051
Pancreatic Neoplasms	Associate	17012836
Personality Disorders	Associate	12811528
Polycystic Ovary Syndrome	Associate	35551681
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	12186694
Primary angiitis of the central nervous system	Associate	31270218
Prostatic Neoplasms	Associate	36806315
Prostatic Neoplasms Castration Resistant	Associate	37476073
Protein Losing Enteropathies	Associate	28657829, 33398182
Pulmonary Embolism	Associate	23726092
Purpura Thrombocytopenic Idiopathic	Associate	19154662
Renal Insufficiency Chronic	Associate	28957817
Rhabdomyosarcoma	Associate	22973031
Rheumatic Diseases	Associate	24463881
Rheumatic Fever	Associate	11212152
Sarcoidosis	Associate	34399367
Spondylitis Ankylosing	Associate	22590509
Stomach Neoplasms	Associate	11706063, 12032231, 16130195, 35851954
Substance Related Disorders	Inhibit	19878546
Substance Related Disorders	Associate	22531721, 36571232, 37880350
Synovial Cyst	Associate	10211878
Systemic carnitine deficiency	Associate	27667587
Systemic Inflammatory Response Syndrome	Associate	17458880
Thrombophilia	Associate	23042280
Thrombosis	Associate	11023512, 28657829
Thyroid Diseases	Associate	7518800
Urinary Bladder Neoplasms	Associate	18561323, 33721374
Uterine Cervical Neoplasms	Associate	11950905, 19878546, 30519000
Uterine Cervical Neoplasms	Stimulate	20221634
Van der Woude syndrome	Associate	2309700
Vasculitis	Associate	28940198
Xeroderma Pigmentosum	Associate	10361249