Table 3 Distribution of genes located in the 12p region
Gene | Protein | OMIM | Function |
|---|---|---|---|
TNFRSF1A | TNF receptor superfamily member 1A | 191190 | Activates NF-kappaB, mediate apoptosis, and function as a regulator of inflammation. Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome. |
LRP6 | LDL receptor related protein 6 | 603507 | Through its interaction with the Wnt/beta-catenin signaling cascade, this gene plays a role in the regulation of cell differentiation, proliferation, and migration and the development of many cancer types. |
CLEC7A | C-type lectin domain family 7 member A | 606264 | Functions as a pattern-recognition receptor that recognizes a variety of beta-1,3-linked and beta-1,6-linked glucans from fungi and plants, and in this way plays a role in innate immune response. |
GABARAPL1 | GABA type A receptor associated protein like 1 | 607420 | Interacts with a cohort of 67 proteins, with extensive binding partner overlap between family members, and frequent involvement of a conserved surface on ATG8 proteins known to interact with LC3-interacting regions in partner proteins. |
CLEC1B | C-type lectin domain family 1 member B | 606783 | Expressed in myeloid cells and NK cells, which express, multiple calcium-dependent (C-type) lectin-like receptors, such as CD94 and NKG2D that interact with major histocompatibility complex class I molecules and either inhibit or activate cytotoxicity and cytokine secretion. |
STYK1 | serine/threonine/tyrosine kinase 1 | 61143 | Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival. |
PRB4 | proline rich protein BstNI subfamily 4 | 180990 | Encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature peptides before secretion from the parotid glands. |
PRH2 | proline rich protein HaeIII subfamily 2 | 168790 | Encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. Certain alleles of this gene are associated with susceptibility to dental caries. |
CLEC12A | C-type lectin domain family 12 member A | 612088 | This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily which share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The protein encoded by this gene is a negative regulator of granulocyte and monocyte function. This gene is closely linked to other CTL/CTLD superfamily members in the natural killer gene complex region on chromosome 12p13. |
PRB1 | proline rich protein BstNI subfamily 1 | 180989 | Encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. |
TAS2R43 | taste 2 receptor member 43 | 612668 | Belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway. |
PRB2 | proline rich protein BstNI subfamily 2 | 168810 | Encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid glands. |
KLRA1P | killer cell lectin like receptor A1, pseudogene | 604274 | This locus was originally considered to be protein coding, but has been reclassified as a transcribed pseudogene because all associated transcripts are candidates for nonsensemediated decay (NMD). |
TAS2R31 | taste 2 receptor member 31 | 612669 | Belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway |
PRB3 | proline rich protein BstNI subfamily 3 | 168840 | Encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The protein isoforms encoded by this gene are recognized as the “first line of oral defense” against the detrimental effects of polyphenols in the diet and pathogen infections. |
PRH1 | proline rich protein HaeIII subfamily 1 | 168730 | Encodes a member of the heterogeneous family of proline-rich salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature isoforms before secretion from the parotid and submandibular/sublingual glands. |
CLEC9A | C-type lectin domain family 9 member A | 612252 | CLEC9A is a group V C-type lectin-like receptor (CTLR) that functions as an activation receptor and is expressed on myeloid lineage cells. |
TAS2R50 | taste 2 receptor member 50 | 609627 | Belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway. |
CLEC1A | C-type lectin domain family 1 member A | 606782 | Encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signaling, glycoprotein turnover, and roles in inflammation and immune response. The encoded protein may play a role in regulating dendritic cell function. |
TAS2R46 | taste 2 receptor member 46 | 612774 | Belongs to the large TAS2R receptor family. TAS2Rs are expressed on the surface of taste receptor cells and mediate the perception of bitterness through a G protein-coupled second messenger pathway. |
TAS2R20 | taste 2 receptor member 20 | 613962 | Encodes a member of the taste receptor two family of class C G-protein coupled receptors. Members of this family are expressed in a subset of taste receptor cells, where they function in bitter taste reception, as well as in non-gustatory cells including those of the brain, reproductive organs, respiratory system, and gastrointestinal system. |
MAGOHB | mago homolog B, exon junction complex core componente | ------- | Findings show 2 genes MAGOH and MAGOHB are expressed in mammals; in macrophages, expression of MAGOHB but not MAGOH mRNA increases after LPS stimulation; both MAGOH proteins interact with other exon junction complex (EJC) components, incorporate into mRNAbound EJCs and activate nonsense-mediated decay |
TAS2R19 | taste 2 receptor member 19 | 613961 | No description |
TAS2R30 | taste 2 receptor member 30 | 613963 | No description |
CLEC12B | C-type lectin domain family 12 member B | ------- | No description |
PCS | Parotid proline-rich salivary protein Pc | 168710 | No description |
TMEM52B | transmembrane protein 52B | ------- | No description |
MANSC1 | MANSC domain containing 1 | ------- | No description |
TAS2R12P | taste 2 receptor member 12 pseudogene | -------- | No description |
SMIM10L1 | small integral membrane protein 10 like 1 | -------- | No description |
TAS2R18P | taste 2 receptor member 18 pseudogene | -------- | No description |
TAS2R63P | taste 2 receptor member 63 pseudogene | -------- | No description |
TAS2R64P | taste 2 receptor member 64 pseudogene | -------- | No description |
LOH12CR2 | loss of heterozygosity, 12, chromosomal region 2 (non-protein coding) | -------- | No description |
TAS2R15P | taste 2 receptor member 15 pseudogene | -------- | No description |
TAS2R67P | taste 2 receptor member 67 pseudogene | -------- | No description |
PR@ | proline rich protein gene cluster | -------- | No description |
MORF4L1P2 | mortality factor 4 like 1 pseudogene 2 | -------- | No description |
HSPE1P12 | heat shock protein family E (Hsp10) member 1 pseudogene 12 | -------- | No description |
RNU7-60P | RNA, U7 small nuclear 60 pseudogene | -------- | No description |
RPL21P100 | ribosomal protein L21 pseudogene 100 | -------- | No description |
LINC01252 | long intergenic non-protein coding RNA 1252 | -------- | No description |
SLC25A39P2 | SLC25A39 pseudogene 2 | -------- | No description |
RNU6-545P | RNA, U6 small nuclear 545, pseudogene | -------- | No description |
RN7SKP161 | RNA, 7SK small nuclear pseudogene 161 | -------- | No description |
IQSEC3P2 | IQ motif and Sec7 domain 3 pseudogene 2 | -------- | No description |
DDX55P1 | DEAD-box helicase 55 pseudogene 1 | -------- | No description |
HNRNPABP1 | heterogeneous nuclear ribonucleoprotein A/B pseudogene 1 | -------- | No description |
LOC255308 | eukaryotic translation initiation factor 2 subunit gamma pseudogene | -------- | No description |
LOC102724020 | uncharacterized LOC102724020 | -------- | No description |
LOC101928100 | uncharacterized LOC101928100 | -------- | No description |
LOC440084 | hCG1655019 | -------- | No description |
LOC101928162 | uncharacterized LOC101928162 | -------- | No description |
LOC440082 | uncharacterized LOC440082 | -------- | No description |