Table 1:
Genes that lie in the chromosome 7 region: 79,573,975–85,833,865 (hg18 coordinates)
| Gene | Protein | OMIM | Description |
|---|---|---|---|
| GNAI1 | Guanine nucleotide binding protein G(i) subunit alpha-1 | 139310 | The encoded protein is part of a complex that responds to beta-adrenergic signals by inhibiting adenylate cyclase. |
| CD36 | CD36 molecule (thrombospondin receptor) | 173510 | This protein may have important functions as a cell adhesion molecule. Mutations in this gene cause platelet glycoprotein deficiency. |
| SEMA3C | Semaphorin 3C | 602645 | This protein is a non-multidrug resistance gene of human cancers |
| HGF | Hepatocyte growth factor (hepapoietin A; scatter factor) | 142409 | Hepatocyte growth factor regulates cell growth, cell motility, and morphogenesis by activating a tyrosine kinase signaling cascade after binding to the proto-oncogenic c-Met receptor. |
| CACNA2D1 | Voltage-dependent calcium channel subunit alpha-2/delta-1 | 114204 | This gene encodes a member of the alpha-2/delta subunit family, which is a protein in the voltage-dependent calcium channel complex. |
| PCLO | Piccolo (presynaptic cytomatrix protein) | 604918 | The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. |
| SEMA3E | Semaphorin 3E | 608166 | Semaphorins serve as axon guidance ligands via multimeric receptor complexes. Screening of patients with CHARGE syndrome for mutations in the SEMA3E gene revealed a de novo missense mutation in an unrelated patient. |
| SEMA3A | Semaphorin 3A | 603961 | This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia. |
| SEMA3D | Semaphorin 3D | 609907 | Knockdown of the zebrafish orthologue of semaphorin 3D (SEMA3D) reduces the number of peripheral axons, and expression in the chick suggests that this protein may play an important role in heart development. |
OMIM = Online Mendelian Inheritance in Man; CHARGE = coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality.