| 1351512 | XK | X-linked Kx blood group antigen, Kell and VPS13A binding protein | This locus controls the synthesis of the Kell blood group 'precursor substance' (Kx). Mutations in this gene have been associated with McLeod syndrome, an X-linked, recessive disorder characterized by abnormalities in the neuromuscular and hematopoietic systems. The encoded protein has structural ch aracteristics of prokaryotic and eukaryotic membrane transport proteins. [provided by RefSeq, Jul 2008] | X | 37685791 | 37732130 | Human | 149 | symbol , old_gene_name , COSMIC , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1602431 | XKR3 | XK related 3 | XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008] | 22 | 16783480 | 16825411 | Human | 13 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1606184 | XKR4 | XK related 4 | Enables phospholipid scramblase activity. Involved in phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 8 | 55102028 | 55542054 | Human | 63 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1604445 | XKR5 | XK related 5 | Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 8 | 6808517 | 6835524 | Human | 66 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1321790 | XKR6 | XK related 6 | Predicted to be involved in apoptotic process involved in development; engulfment of apoptotic cell; and phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 8 | 10896045 | 11201833 | Human | 57 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1605535 | XKR7 | XK related 7 | Predicted to be involved in apoptotic process involved in development; engulfment of apoptotic cell; and phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 20 | 31968151 | 32003387 | Human | 34 | symbol , old_gene_name , COSMIC , name , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1602706 | XKR8 | XK related 8 | Enables phospholipid scramblase activity. Involved in engulfment of apoptotic cell; phosphatidylserine exposure on apoptotic cell surface; and positive regulation of myoblast differentiation. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025] | 1 | 27959973 | 27968093 | Human | 79 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1604439 | XKR9 | XK related 9 | Predicted to enable phospholipid scramblase activity. Predicted to be involved in phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jul 2025] | 8 | 70669339 | 71065805 | Human | 40 | symbol , old_gene_name , COSMIC , name , Human Proteome Map , old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 1345703 | XKRX | XK related X-linked | This gene encodes a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010] | X | 100886916 | 100959343 | Human | 58 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 38508925 | AC092032.3 | XK related 8 (XKR8) pseudogene | | | | | Human | | name | gene, transcribed_unprocessed_pseudogene |
| 1344352 | XKRY | XK related, Y-linked (pseudogene) | This probable pseudogene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It is similar to the XK (X-linked Kell blood group precursor) gene, which encodes a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more centromeric copy. [provided by RefSeq, Nov 2020] | Y | 17768980 | 17770560 | Human | 7 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, pseudo, REVIEWED [RefSeq] |
| 1604932 | XKRYP1 | XK related, Y-linked pseudogene 1 | | Y | 18507812 | 18509608 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1604931 | XKRYP2 | XK related, Y-linked pseudogene 2 | | Y | 18810798 | 18812594 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1604930 | XKRYP3 | XK related, Y-linked pseudogene 3 | | Y | 23715687 | 23717485 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1604929 | XKRYP4 | XK related, Y-linked pseudogene 4 | | Y | 23916696 | 23918494 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1604928 | XKRYP5 | XK related, Y-linked pseudogene 5 | | Y | 25751617 | 25753415 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1604927 | XKRYP6 | XK related, Y-linked pseudogene 6 | | Y | 25952590 | 25954387 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, pseudo, INFERRED [RefSeq] |
| 1353485 | XKRYP7 | XK related, Y-linked pseudogene 7 | This probable pseudogene is located in the nonrecombining portion of the Y chromosome, and is expressed specifically in testis. It is similar to the XK (X-linked Kell blood group precursor) gene, which encodes a putative membrane transport protein. This gene is present as two identical copies within a palindromic region; this record represents the more telomeric copy. [provided by RefSeq, Nov 2020] | Y | 18135449 | 18137029 | Human | 2 | symbol , old_gene_name , COSMIC , name , description , Human Proteome Map , old_gene_symbol | gene, pseudo, REVIEWED [RefSeq] |
| 16568584 | PLA2G10KP | phospholipase A2 group XK, pseudogene | | | | | Human | | name | gene, unprocessed_pseudogene |
| 155782956 | PLA2G10KP | phospholipase A2 group XK, pseudogene | | 16 | 28773824 | 28777534 | Human | | name | gene, pseudo, INFERRED [RefSeq] |
| 16560204 | XKR4-AS1 | XKR4 antisense RNA 1 | | 8 | 55517187 | 55520978 | Human | | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 734049 | COL1A1 | collagen type I alpha 1 chain | This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogen esis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008] | 17 | 50184101 | 50201631 | Human | 3028 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1323429 | PIDD1 | p53-induced death domain protein 1 | The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may functi on as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010] | 11 | 799184 | 809501 | Human | 201 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 731598 | RHAG | Rh associated glycoprotein | The protein encoded by this gene is erythrocyte-specific and is thought to be part of a membrane channel that transports ammonium and carbon dioxide across the blood cell membrane. The encoded protein appears to interact with Rh blood group antigens and Rh30 polypeptides. Defects in this gene are a cause of regulator type Rh-null hemolytic anemia (RHN), or Rh-deficiency syndrome.[provided by RefSeq, Mar 2009] | 6 | 49605175 | 49636839 | Human | 121 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1602274 | STING1 | stimulator of interferon response cGAMP interactor 1 | This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon respons es. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014] | 5 | 139475533 | 139482758 | Human | 356 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1346715 | TLR9 | toll like receptor 9 | The protein encoded by this gene is a member of the Toll-like receptor (TLR) family, which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen -associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. Studies in mice and human indicate that this receptor mediates cellular response to unmethylated CpG dinucleotides in bacterial DNA to mount an innate immune response. [provided by RefSeq, Aug 2017] | 3 | 52221080 | 52225645 | Human | 349 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1316929 | KEL | Kell metallo-endopeptidase (Kell blood group) | This gene encodes a type II transmembrane glycoprotein that is the highly polymorphic Kell blood group antigen. The Kell glycoprotein links via a single disulfide bond to the XK membrane protein that carries the Kx antigen. The encoded protein contains sequence and structural similarity to members of the neprilysin (M13) family of zinc endopeptidases. [provided by RefSeq, Jul 2008] | 7 | 142941114 | 142962363 | Human | 81 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 16568421 | AL031658.2 | novel transcript, sense intronic to XKR7 | | | | | Human | | name | gene, lncrna |
| 1323589 | TPX2 | TPX2 microtubule nucleation factor | Enables importin-alpha family protein binding activity; molecular adaptor activity; and protein kinase binding activity. Involved in activation of protein kinase activity; microtubule cytoskeleton organization; and negative regulation of microtubule depolymerization. Located in intercellular bridge; nucleoplasm; and spindle. Is active in spindle. [provided by Alliance of Genome Resources, Apr 2025] | 20 | 31739290 | 31801800 | Human | 243 | old_gene_name | gene, protein-coding, VALIDATED [RefSeq] |
| 1347414 | SP2 | Sp2 transcription factor | This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. It localizes primarily within subnuclear foci associated with the nuclear matrix, and can activate or in some cases repress expression from different promoters. [provided by RefSeq, Jul 2008] | 17 | 47896236 | 47931731 | Human | 77 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 736995 | SP7 | Sp7 transcription factor | This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010] | 12 | 53326575 | 53344793 | Human | 339 | description | gene, protein-coding, REVIEWED [RefSeq] |
