| 1605129 | C4B | complement C4B (Chido/Rodgers blood group) | This gene encodes the basic form of complement factor 4, and together with the C4A gene, is part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer pr ovides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. [provided by RefSeq, May 2020] | 6 | 32014795 | 32035418 | Human | 278 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 10399720 | C4B-AS1 | C4B antisense RNA 1 | | | | | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna |
| 1348835 | CR1L | complement C3b/C4b receptor 1 like | Acts upstream of or within regulation of complement activation and regulation of complement-dependent cytotoxicity. Part of receptor complex. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 207645133 | 207723703 | Human | 96 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 1603411 | CR1 | complement C3b/C4b receptor 1 (Knops blood group) | This gene is a member of the receptors of complement activation (RCA) family and is located in the 'cluster RCA' region of chromosome 1. The genome is polymorphic at this locus with allele-specific splice variants encoding different isoforms, based on the presence/absence of long homologous repeats (LHRs). The gene encodes a monomeric single-pass type I membrane glycoprotein found on erythrocytes, leukocytes, glomerular podocytes, and splenic follicular dendritic cells. The Knops blood group system is a system of antigens located on this protein. The protein mediates cellular binding to particles and immune complexes that have activated complement. Decreases in expression of this protein and/or mutations in this gene have been associated with gallbladder carcinomas, mesangiocapillary glomerulonephritis, systemic lupus erythematosus, sarcoidosis and Alzheimer's disease. Mutations in this gene have also been associated with a reduction in Plasmodium falciparum rosetting, conferring protection against severe malaria. [provided by RefSeq, May 2020] | 1 | 207496157 | 207641765 | Human | 109 | old_gene_name , name , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 38641344 | LOC100422434 | complement C3b/C4b receptor 1 (Knops blood group) pseudogene | | 1 | 207710382 | 207712868 | Human | | name | gene, pseudo, INFERRED [RefSeq] |
| 736809 | CFI | complement factor I | This gene encodes a serine proteinase that is essential for regulating the complement cascade. The encoded preproprotein is cleaved to produce both heavy and light chains, which are linked by disulfide bonds to form a heterodimeric glycoprotein. This heterodimer can cleave and inactivate the complem ent components C4b and C3b, and it prevents the assembly of the C3 and C5 convertase enzymes. Defects in this gene cause complement factor I deficiency, an autosomal recessive disease associated with a susceptibility to pyogenic infections. Mutations in this gene have been associated with a predisposition to atypical hemolytic uremic syndrome, a disease characterized by acute renal failure, microangiopathic hemolytic anemia and thrombocytopenia. Primary glomerulonephritis with immune deposits and age-related macular degeneration are other conditions associated with mutations of this gene. [provided by RefSeq, Dec 2015] | 4 | 109730982 | 109801999 | Human | 483 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 736875 | C4BPB | complement component 4 binding protein beta | This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. A single, unique beta-chain encoded by this gene assembles with seven identical alpha-chains into the predominant isoform of C4b eight:700;'>C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. C4b-binding protein has a regulatory role in the coagulation system also, mediated through the beta-chain binding of protein S, a vitamin K-dependent protein that serves as a cofactor of activated protein C. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Alternative splicing gives rise to multiple transcript variants. [provided by RefSeq, Jul 2008] | 1 | 207088860 | 207099993 | Human | 90 | symbol , old_gene_name , COSMIC , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 736103 | C4BPA | complement component 4 binding protein alpha | This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b font-weight:700;'>C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008] | 1 | 207104233 | 207144972 | Human | 139 | symbol , old_gene_name , COSMIC , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 7207322 | C4B_2 | complement component 4B (Chido/Rodgers blood group), copy 2 | This gene encodes the basic form of complement factor 4, part of the classical activation pathway. The protein is expressed as a single chain precursor which is proteolytically cleaved into a trimer of alpha, beta, and gamma chains prior to secretion. The trimer provides a surface for interaction be tween the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. Varying haplotypes of this gene cluster exist, such that individuals may have 1, 2, or 3 copies of this gene. In addition, this gene exists as a long form and a short form due to the presence or absence of a 6.4 kb endogenous HERV-K retrovirus in intron 9. This GeneID and its associated RefSeq record represent a second copy of C4B found on ALT_REF_LOCI_7. [provided by RefSeq, Jul 2011] | | | | Human | 43 | symbol , COSMIC , description , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1342759 | C4BPAP1 | C4BPA pseudogene 1 | INTERACTS WITH sodium arsenite | 1 | 207165495 | 207184061 | Human | 1 | symbol , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 1345971 | C4BPAP2 | C4BPA pseudogene 2 | | 1 | 207225798 | 207229202 | Human | | symbol , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, pseudo, INFERRED [RefSeq] |
| 9999364 | C4BPAP3 | C4BPA pseudogene 3 | | 1 | 207194789 | 207195307 | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1320452 | LIG3 | DNA ligase 3 | This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleu s, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] | 17 | 34980512 | 35010872 | Human | 253 | UniProt | gene, protein-coding, REVIEWED [RefSeq] |
| 1604624 | METTL13 | methyltransferase 13, eEF1A N-terminus and K55 | Enables protein-lysine N-methyltransferase activity. Predicted to be involved in methylation. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 171781660 | 171797716 | Human | 65 | UniProt | gene, protein-coding, VALIDATED [RefSeq] |
| 1316069 | REV3L | REV3 like, DNA directed polymerase zeta catalytic subunit | The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2 017] | 6 | 111299033 | 111483711 | Human | 201 | UniProt | gene, protein-coding, REVIEWED [RefSeq] |
| 68964 | SLC4A4 | solute carrier family 4 member 4 | This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] | 4 | 71062660 | 71572083 | Human | 277 | UniProt , old_protein_id , UniProt Secondary | gene, protein-coding, REVIEWED [RefSeq] |
| 1347040 | SPG11 | SPG11 vesicle trafficking associated, spatacsin | The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009] | 15 | 44562696 | 44663662 | Human | 939 | UniProt | gene, protein-coding, REVIEWED [RefSeq] |
| 736066 | SPP1 | secreted phosphoprotein 1 | The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this prot ein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] | 4 | 87975714 | 87983411 | Human | 990 | UniProt | gene, protein-coding, REVIEWED [RefSeq] |
| 1318479 | TRIM31 | tripartite motif containing 31 | This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016] | 6 | 30102897 | 30113090 | Human | 87 | UniProt | gene, protein-coding, REVIEWED [RefSeq] |
| 1346662 | CD46 | CD46 molecule | The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010] | 1 | 207752038 | 207795516 | Human | 260 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1342781 | PROS1 | protein S | This gene encodes a vitamin K-dependent plasma protein that functions as a cofactor for the anticoagulant protease, activated protein C (APC) to inhibit blood coagulation. It is found in plasma in both a free, functionally active form and also in an inactive form complexed with C4b ght:700;'>C4b-binding protein. Mutations in this gene result in autosomal dominant hereditary thrombophilia. An inactive pseudogene of this locus is located at an adjacent region on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015] | 3 | 93873051 | 93973896 | Human | 508 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 16567541 | AL445493.3 | novel transcript, antisense to C4BPA | | | | | Human | | name | gene, lncrna |
