Genes on human chromosome 18

human chromosome

Bcl-2, encoded in humans by the BCL2 gene, is the founding member of the Bcl-2 family of regulator proteins. BCL2 blocks programmed cell death (apoptosis) while other BCL2 family members can either inhibit or induce it. It was the first apoptosis regulator identified in any organism.

Transthyretin (TTR or TBPA) is a transport protein in the plasma and cerebrospinal fluid that transports the thyroid hormone thyroxine (T4) and retinol to the liver. This is how transthyretin gained its name: transports thyroxine and retinol. The liver secretes TTR into the blood, and the choroid plexus secretes TTR into the cerebrospinal fluid.

Protoporphyrin ferrochelatase (EC 4.98.1.1, formerly EC 4.99.1.1, or ferrochelatase; systematic name protoheme ferro-lyase (protoporphyrin-forming)) is an enzyme encoded by the FECH gene in humans. Ferrochelatase catalyses the eighth and terminal step in the biosynthesis of heme, converting protoporphyrin IX into heme B. It catalyses the reaction:

mammalian protein found in Homo sapiens

protein-coding gene in the species Homo sapiens

SMAD4, also called SMAD family member 4, Mothers against decapentaplegic homolog 4, or DPC4 (deleted in pancreatic cancer 4) is a highly conserved protein present in all metazoans. It belongs to the SMAD family of transcription factor proteins, which act as mediators of TGF-β signal transduction. The TGFβ family of cytokines regulates critical processes during the lifecycle of metazoans, with important roles during embryo development, tissue homeostasis, regeneration, and immune regulation.

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

mammalian protein found in Homo sapiens

Cadherin-2 also known as Neural cadherin (N-cadherin), is a protein that in humans is encoded by the CDH2 gene. CDH2 has also been designated as CD325 (cluster of differentiation 325). Cadherin-2 is a transmembrane protein expressed in multiple tissues and functions to mediate cell–cell adhesion. In cardiac muscle, Cadherin-2 is an integral component in adherens junctions residing at intercalated discs, which function to mechanically and electrically couple adjacent cardiomyocytes. Alterations in expression and integrity of Cadherin-2 has been observed in various forms of disease, including hu

thumb|NPC1 gene is located on the long (q) arm of chromosome 18 at position 11.2. Niemann-Pick disease, type C1 (NPC1) is a membrane protein that mediates intracellular cholesterol trafficking in mammals. In humans the protein is encoded by the NPC1 gene (chromosome location 18q11).

protein-coding gene in the species Homo sapiens

mammalian protein found in Homo sapiens

Mothers against decapentaplegic homolog 7 or SMAD7 is a protein that in humans is encoded by the SMAD7 gene.

THO complex subunit 1 is a protein that in humans is encoded by the THOC1 gene.

mammalian protein found in Homo sapiens

Desmoglein-1 is a protein that in humans is encoded by the DSG1 gene. Desmoglein-1 is expressed everywhere in the skin epidermis, but mainly it is expressed in the superficial upper layers of the skin epidermis.

Mothers against decapentaplegic homolog 2, also known as SMAD family member 2 or SMAD2, is a protein that in humans is encoded by the SMAD2 gene. MAD homolog 2 belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways.

Receptor activator of nuclear factor κ B (RANK), also known as TRANCE receptor or TNFRSF11A, is a member of the tumor necrosis factor receptor (TNFR) molecular sub-family. RANK is the receptor for RANK-Ligand (RANKL) and part of the RANK/RANKL/OPG signaling pathway that regulates osteoclast differentiation and activation. It is associated with bone remodeling and repair, immune cell function, lymph node development, thermal regulation, and mammary gland development. Osteoprotegerin (OPG) is a decoy receptor for RANKL, and regulates the stimulation of the RANK signaling pathway by competing for

CpG-binding protein (CGBP) also known as CXXC-type zinc finger protein 1 (CXXC1) or PHD finger and CXXC domain-containing protein 1 (PCCX1) is a protein that in humans is encoded by the CXXC1 gene.

Serpin B4 is a protein that in humans is encoded by the SERPINB4 gene.

Serpin B3 is a protein that in humans is encoded by the SERPINB3 gene.

mammalian protein found in Homo sapiens

Nucleolar protein 4 is a protein that in humans is encoded by the NOL4 gene.

Serpin peptidase inhibitor, clade B (ovalbumin), member 10 is a protein that in humans is encoded by the SERPINB10 gene.

Thioredoxin-like protein 4A is a protein that is encoded by the TXNL4A gene in humans.

class of enzymes

protein-coding gene in the species Homo sapiens

Nuclear factor of activated T-cells, cytoplasmic 1 is a protein that in humans is encoded by the NFATC1 gene.

RalA-binding protein 1 is a protein that in humans is encoded by the RALBP1 gene.

Calcium-binding tyrosine phosphorylation-regulated protein is a protein that in humans is encoded by the CABYR gene.

Transcription initiation factor TFIID subunit 4B is a protein that in humans is encoded by the TAF4B gene.

Zinc finger CCHC domain-containing protein 2 is a protein that in humans is encoded by the ZCCHC2 gene.

Myosin-Vb, a myosin V type protein, is encoded by the MYO5B gene in humans.

Serpin B8 is a protein that in humans is encoded by the SERPINB8 gene.

Protein ERGIC-53 also known as ER-Golgi intermediate compartment 53 kDa protein or lectin mannose-binding 1 is a protein that in humans is encoded by the LMAN1 gene.

Thioredoxin-like protein 1 is a protein that in humans is encoded by the TXNL1 gene.

Twisted gastrulation protein homolog 1 is a protein that in humans is encoded by the TWSG1 gene. The protein is a binding protein for bone morphogenetic proteins, similar to Chordin. The Twisted gastrulation gene is expressed in the extraembryonic tissues during organogenesis, and in certain adult tissues such as the lymph nodes, kidneys, liver, and lungs.

Growth regulation by estrogen in breast cancer-like is a protein that in humans is encoded by the GREB1L gene.

Piezo-type mechanosensitive ion channel component 2 is a protein that in humans is encoded by the PIEZO2 gene. The PIEZO2 protein has a role in mechanotransduction. Mechanical activation of the channel leads to depolarization of the plasma membrane or activation of secondary messenger cascades. PIEZO2 was cloned in 2010 after its homolog, PIEZO1, was identified using small interfering RNAs of candidate genes for mechanically activated ion channels in mouse neurons. It has a homotrimeric structure, with three blades curving into a nano-dome, with a diameter of 28 nanometers (nm). 'Piezo' comes

protein-coding gene in the species Homo sapiens

Proline-serine-threonine phosphatase-interacting protein 2 is an enzyme that in humans is encoded by the PSTPIP2 gene. This protein, also known as macrophage F-actin-associated and tyrosine phosphorylated protein (MAYP) is a member of the Pombe Cdc15 homology (PCH) family of proteins has been shown to coordinate membrane and cytoskeletal dynamics

Elongator complex protein 2 is a protein that in humans is encoded by the ELP2 gene. ==Interactions== ELP2 has been shown to interact with STAT3 and Janus kinase 1.

Zinc finger protein 24 is a protein that in humans is encoded by the ZNF24 gene.

Transcription factor 4 (TCF-4) also known as immunoglobulin transcription factor 2 (ITF-2) is a protein that in humans is encoded by the TCF4 gene located on chromosome 18q21.2.

Immediate early response 3-interacting protein 1 is a protein that in humans is encoded by the IER3IP1 gene.

protein-coding gene in the species Homo sapiens

CDK5 and ABL1 enzyme substrate 1 is a protein that in humans is encoded by the CABLES1 gene.

Gamma-soluble NSF attachment protein is a SNAP protein that in humans is encoded by the NAPG gene.

Putative Polycomb group protein ASXL3 is a protein that in humans is encoded by the ASXL3 gene.

SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene.

Phosphatidylinositol 3-kinase catalytic subunit type 3 is an enzyme subunit that in humans is encoded by the PIK3C3 gene. It's a class III phosphoinositide 3-kinase.

Serpin B7 is a protein that in humans is encoded by the SERPINB7 gene.

Zinc finger protein 161 homolog is a protein that in humans is encoded by the ZBTB14 gene.

Ras-related protein Rab-31 is a protein that in humans is encoded by the RAB31 gene.

Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.

Neuropilin (NRP) and tolloid (TLL)-like 1 is a protein that in humans is encoded by the NETO1 gene.

Desmoglein-3 is a protein that in humans is encoded by the DSG3 gene. In the skin epidermis Desmoglein-3 is expressed in the basal lower layers of the epidermis, and dominates in terms of expression on mucosal surfaces compared to Desmoglein-1.

protein-coding gene in the species Homo sapiens