| SYMBOL | TITLE | MIN | MAX | NCBI
human
gene
summary |
|---|
| BCAM | basal cell adhesion molecule | 6.26 | 10.19 | NCBI mm gene Summary: Lutheran blood group glycoprotein is a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five, N-terminus, extracellular immunoglobulin domains, a single transmembrane domain, and a short, C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. Sequence Note: This RefSeq record represents the LU*0010101 allele. |
| C4A | complement component 4A (Rodgers blood group) | 5.31 | 9.57 | NCBI mm gene Summary: This gene encodes the acidic 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 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 and type I diabetes mellitus. 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. [provided by RefSeq]. Sequence Note: This RefSeq record represents the C4A*001.1.1 allele. |
| C4B | complement component 4B (Childo blood group) | 5.10 | 12.14 | NCBI mm gene Summary: 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 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]. |
| CALD1 | caldesmon 1 | 4.51 | 7.85 | NCBI mm gene |
| CGNL1 | cingulin-like 1 | 5.00 | 10.02 | NCBI mm gene |
| CXCL13 | chemokine (C-X-C motif) ligand 13 | 4.51 | 12.04 | NCBI mm gene |
| EFNB2 | ephrin B2 | 5.37 | 10.85 | NCBI mm gene |
| HYAL1 | hyaluronoglucosaminidase 1 | 4.63 | 9.26 | NCBI mm gene Summary: This gene encodes a lysosomal hyaluronidase. Hyaluronidases intracellularly degrade hyaluronan, one of the major glycosaminoglycans of the extracellular matrix. Hyaluronan is thought to be involved in cell proliferation, migration and differentiation. This enzyme is active at an acidic pH and is the major hyaluronidase in plasma. Mutations in this gene are associated with mucopolysaccharidosis type IX, or hyaluronidase deficiency. The gene is one of several related genes in a region of chromosome 3p21.3 associated with tumor suppression. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]. |
| NFIA | nuclear factor I/A | 5.81 | 9.32 | NCBI mm gene Summary: Nuclear factor I (NFI) proteins constitute a family of dimeric DNA-binding proteins with similar, and possibly identical, DNA-binding specificity. They function as cellular transcription factors and as replication factors for adenovirus DNA replication. Diversity in this protein family is generated by multiple genes, differential splicing, and heterodimerization.[supplied by OMIM]. |
| PMP22 | peripheral myelin protein 22 | 6.29 | 13.22 | NCBI mm gene Summary: This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing of this gene results in three transcript variants that encode the same protein. [provided by RefSeq]. |
| SORBS3 | sorbin and SH3 domain containing 3 | 6.08 | 9.20 | NCBI mm gene |
| STARD13 | StAR-related lipid transfer (START) domain containing 13 | 4.79 | 8.10 | NCBI mm gene |