| CST2 |
- |
|
|
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while …
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| WFDC6 |
- |
|
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This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family. The WFDC domain, or WAP signature motif, …
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| - |
- |
|
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-
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| WNK2 |
- |
|
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The protein encoded by this gene is a cytoplasmic serine-threonine kinase that contains cysteine in place of the lysine found …
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View
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| - |
- |
|
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-
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View
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| ERVWE1 |
- |
|
|
Many different human endogenous retrovirus (HERV) families are expressed in normal placental tissue at high levels, suggesting that HERVs are …
|
View
|
| AOC3 |
- |
|
|
Copper amine oxidases catalyze the oxidative conversion of amines to aldehydes in the presence of copper and quinone cofactor. The …
|
View
|
| - |
- |
|
|
This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal …
|
View
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| PTGER3 |
- |
|
|
The protein encoded by this gene is a member of the G-protein coupled receptor family. This protein is one of …
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View
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| - |
- |
|
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-
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View
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| - |
- |
|
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-
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View
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| - |
- |
|
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-
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View
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| PDE10A |
- |
|
|
Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. This enzyme can hydrolyze both cAMP …
|
View
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| ZNF7 |
- |
|
|
May function as a transcription factor.
|
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| TOMM22 |
- |
|
|
The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts …
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| GNRH2 |
- |
|
|
The protein encoded by this gene is a preproprotein that is cleaved to form a secreted 10 aa peptide hormone. …
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| LHFPL2 |
- |
|
|
-
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View
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| ITGAE |
- |
|
|
ITGAE encodes integrin alpha chain E. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta …
|
View
|
| - |
- |
|
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-
|
View
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| PEX26 |
- |
|
|
Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase …
|
View
|
| RNF168 |
- |
|
|
-
|
View
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| - |
- |
|
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-
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View
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| ALMS1 |
- |
|
|
This gene encodes a protein containing a large tandem-repeat domain that contains no cysteine residues. Mutations in this gene have …
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| FAM60A |
- |
|
|
-
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View
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| C9orf53 |
- |
|
|
-
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View
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| LIM2 |
- |
|
|
The mammalian lens fiber cell membrane contains 5 major proteins ranging from 70 kD to 19 kD in size. The …
|
View
|
| EXOSC6 |
- |
|
|
This gene product constitutes one of the subunits of the multisubunit particle called exosome, which mediates mRNA degradation. The composition …
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| GCNT2 |
- |
|
|
The enzyme encoded by this gene is responsible for the formation of the blood group I antigen. The i and …
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|
| CITED4 |
- |
|
|
CITED4 belongs to a family of transcriptional coactivators that bind several proteins, including CREB-binding protein (MIM 600140) and p300 (MIM …
|
View
|
| SLC9A6 |
- |
|
|
Electroneutral exchange of protons for Na(+) and K(+) across the mitochondrial inner membrane. Contributes to organellar volume and calcium homeostasis.
|
View
|
| RLN3 |
- |
|
|
Relaxins are known endocrine and autocrine/paracrine hormones, belonging to the insulin gene superfamily. In the human there are three non-allelic …
|
View
|
| - |
- |
|
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-
|
View
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| IPO7 |
- |
|
|
The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein …
|
View
|
| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
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| - |
- |
|
|
-
|
View
|
| COX10 |
- |
|
|
Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c …
|
View
|
| - |
- |
|
|
-
|
View
|
| DBH |
- |
|
|
The protein encoded by this gene is an oxidoreductase belonging to the copper type II, ascorbate-dependent monooxygenase family. It is …
|
View
|
| SLCO1C1 |
- |
|
|
Mediates the Na(+)-independent high affinity transport of organic anions such as the thyroid hormones thyroxine (T4) and rT3. Other potential …
|
View
|
| ARHGAP18 |
- |
|
|
-
|
View
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| XRCC2 |
- |
|
|
This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and …
|
View
|
| ADCY3 |
- |
|
|
This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic …
|
View
|
| - |
- |
|
|
-
|
View
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| PGK2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
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| FAIM3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NEFL |
- |
|
|
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RPL34P2 |
- |
|
|
-
|
View
|
| EPPK1 |
- |
|
|
-
|
View
|
| MCF2L2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the …
|
View
|
| IL6R |
- |
|
|
Interleukin 6 (IL6) is a potent pleiotropic cytokine that regulates cell growth and differentiation and plays an important role in …
|
View
|
| KIAA1596 |
- |
|
|
-
|
View
|
| BPY2 |
- |
|
|
This gene is located in the nonrecombining portion of the Y chromosome, and expressed specifically in testis. The encoded protein …
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC26A3 |
- |
|
|
The protein encoded by this gene is a transmembrane glycoprotein that functions as a sulfate transporter. It is localized to …
|
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|
| GPR101 |
- |
|
|
G protein-coupled receptors (GPCRs, or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins.[supplied by OMIM]
|
View
|
| GPR39 |
- |
|
|
-
|
View
|
| GNG8 |
- |
|
|
Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and …
|
View
|
| RTN4R |
- |
|
|
This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition …
|
View
|
| SPARCL1 |
- |
|
|
-
|
View
|
| PSME3 |
- |
|
|
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core …
|
View
|
| FAF1 |
- |
|
|
Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number …
|
View
|
| ZNF663 |
- |
|
|
-
|
View
|
| - |
- |
|
|
This intronless gene is located upstream of the WT1 gene; these two genes are bi-directionally transcribed from the same promoter …
|
View
|
| CAPN2 |
- |
|
|
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The …
|
View
|
| CCL24 |
- |
|
|
This gene belongs to the subfamily of small cytokine CC genes. Cytokines are a family of secreted proteins involved in …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SUV39H2 |
- |
|
|
Histone methyltransferase. Methylates Lys-9 of histone H3 and weakly histone H1 (in vitro). H3 Lys-9 methylation represents a specific tag …
|
View
|
| C14orf130 |
- |
|
|
-
|
View
|
| FANCG |
- |
|
|
FANCG, involved in Fanconi anemia, confers resistance to both hygromycin and mitomycin C. FANCG contains a 5-prime GC-rich untranslated region …
|
View
|
| LRIG3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| FOXB1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NID2 |
- |
|
|
Basement membranes, which are composed of type IV collagens (see MIM 120130), laminins (see LAMC1; MIM 150290), perlecan (HSPG2; MIM …
|
View
|
| - |
- |
|
|
-
|
View
|
| PLXNB3 |
- |
|
|
Receptor for SEMA5A. Plays a role in axon guidance, invasive growth and cell migration.
|
View
|
| TRIM36 |
- |
|
|
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three …
|
View
|
| ANXA6 |
- |
|
|
Annexin VI belongs to a family of calcium-dependent membrane and phospholipid binding proteins. Although their functions are still not clearly …
|
View
|
| ADRA2C |
- |
|
|
Alpha-2-adrenergic receptors are members of the G protein-coupled receptor superfamily. They include 3 highly homologous subtypes: alpha2A, alpha2B, and alpha2C. …
|
View
|
| AFG3L2 |
- |
|
|
This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an …
|
View
|
| CTBP2 |
- |
|
|
This gene produces two transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is …
|
View
|
| STAMBP |
- |
|
|
Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an …
|
View
|
| MTA3 |
- |
|
|
Plays a role in maintenance of the normal epithelial architecture through the repression of SNAI1 transcription in a histone deacetylase-dependent …
|
View
|
| CRYGB |
- |
|
|
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate …
|
View
|
| APOC1 |
- |
|
|
The protein encoded by this gene is a member of the apolipoprotein C1 family. This gene is expressed primarily in …
|
View
|
| - |
- |
|
|
-
|
View
|
| CRI2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| IL10 |
- |
|
|
The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. …
|
View
|
| RPL10L |
- |
|
|
This gene encodes a protein sharing sequence similarity with ribosomal protein L10. It is not currently known whether the encoded …
|
View
|
| RFPL1 |
- |
|
|
-
|
View
|
| ENPP4 |
- |
|
|
-
|
View
|
| HD |
- |
|
|
Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is …
|
View
|
| PTAR1 |
- |
|
|
-
|
View
|
| FCRL4 |
- |
|
|
-
|
View
|
| CNOT6 |
- |
|
|
The protein encoded by this gene is a subunit of the CCR4-NOT core transcriptional regulation complex. The encoded protein has …
|
View
|
| MAL2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ACRC |
- |
|
|
-
|
View
|
| IL11 |
- |
|
|
The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly …
|
View
|
| - |
- |
|
|
May have nucleic acid binding capability that may participate in important transcriptional or translational control of cell growth, metabolism and …
|
View
|
| C10orf40 |
- |
|
|
-
|
View
|
| EFTUD1 |
- |
|
|
-
|
View
|
| TCF19 |
- |
|
|
Potential trans-activating factor that could play an important role in the transcription of genes required for the later stages of …
|
View
|
| - |
- |
|
|
-
|
View
|
| CDS1 |
- |
|
|
Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating …
|
View
|
| - |
- |
|
|
-
|
View
|
| TAS2R8 |
- |
|
|
This gene product belongs to the family of candidate taste receptors that are members of the G-protein-coupled receptor superfamily. These …
|
View
|
| NT5C |
- |
|
|
Pyrimidine 5-prime nucleotidase (P5N; EC 3.1.3.5), also called uridine 5-prime monophosphate hydrolase (UMPH), catalyzes the dephosphorylation of the pyrimidine 5-prime …
|
View
|
| ACSL4 |
- |
|
|
The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate …
|
View
|
| BAT2 |
- |
|
|
A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. …
|
View
|
| - |
- |
|
|
-
|
View
|
| SFRS5 |
- |
|
|
Plays a role in constitutive splicing and can modulate the selection of alternative splice sites.
|
View
|
| HABP2 |
- |
|
|
The protein encoded by this gene is an extracellular serine protease which binds hyaluronic acid. It is involved in cell …
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF655 |
- |
|
|
This gene encodes a zinc finger protein. The zinc finger proteins are involved in DNA binding and protein-protein interactions. Multiple …
|
View
|
| - |
- |
|
|
-
|
View
|
| NCF1 |
- |
|
|
NCF1 encodes neutrophil cytosolic facter 1, the 47-kilodalton cytosolic subunit of the multi-protein complex known as NADPH oxidase found in …
|
View
|
| ST8SIA1 |
- |
|
|
Gangliosides are membrane-bound glycosphingolipids containing sialic acid. Ganglioside GD3 is known to be important for cell adhesion and growth of …
|
View
|
| COQ3 |
- |
|
|
-
|
View
|
| DNM1 |
- |
|
|
Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of …
|
View
|
| DMAP1 |
- |
|
|
Involved in transcription repression and activation. Its interaction with HDAC2 may provide a mechanism for histone deacetylation in heterochromatin following …
|
View
|
| RPA4 |
- |
|
|
-
|
View
|
| ILVBL |
- |
|
|
The protein encoded by this gene shares similarity with several thiamine pyrophosphate-binding proteins identified in bacteria, yeast, and plants. The …
|
View
|
| MYH6 |
- |
|
|
Muscle contraction.
|
View
|
| TMEM16C |
- |
|
|
-
|
View
|
| LPP |
- |
|
|
-
|
View
|
| MUC17 |
- |
|
|
Membrane mucins, such as MUC17, function in epithelial cells to provide cytoprotection, maintain luminal structure, provide signal transduction, and confer …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TRIP6 |
- |
|
|
-
|
View
|
| LRRC19 |
- |
|
|
-
|
View
|
| CAV3 |
- |
|
|
This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most …
|
View
|
| - |
- |
|
|
-
|
View
|
| CASZ1 |
- |
|
|
Probable transcription factor (By similarity).
|
View
|
| SCARF1 |
- |
|
|
The protein encoded by this gene is a scavenger receptor that is expressed in endothelial cells and mediates the binding …
|
View
|
| MIP |
- |
|
|
Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family …
|
View
|
| ZCCHC5 |
- |
|
|
-
|
View
|
| ECHDC3 |
- |
|
|
-
|
View
|
| BACE2 |
- |
|
|
Cerebral deposition of amyloid beta peptide is an early and critical feature of Alzheimer's disease and a frequent complication of …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
This gene encodes a nuclear protein which interacts with the tumor suppressor retinoblastoma 1. The two interacting proteins are thought …
|
View
|
| HTLF |
- |
|
|
Human T-cell leukemia virus enhancer factor (HTLF) may be a forkhead domain binding protein. It may function in the transcriptional …
|
View
|
| - |
- |
|
|
-
|
View
|
| AANAT |
- |
|
|
Arylalkylamine N-acetyltransferase belongs to the superfamily of acetyltransferases. It is the penultimate enzyme in melatonin synthesis and controls the night/day …
|
View
|
| HSD17B1 |
- |
|
|
Favors the reduction of estrogens and androgens. Also has 20-alpha-HSD activity. Uses preferentially NADH.
|
View
|
| UBA52 |
- |
|
|
Ubiquitin is a highly conserved nuclear and cytoplasmic protein that has a major role in targeting cellular proteins for degradation …
|
View
|
| ZNF439 |
- |
|
|
May be involved in transcriptional regulation.
|
View
|
| AATF |
- |
|
|
The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known …
|
View
|
| COL8A2 |
- |
|
|
Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells.
|
View
|
| - |
- |
|
|
-
|
View
|
| SGCG |
- |
|
|
Gamma-sarcoglycan is one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin, probably to provide a link between the membrane …
|
View
|
| C16orf30 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| THSD2 |
- |
|
|
This gene encodes a protein similar to thrombospondin type 1 domain-containing proteins. In addition, the protein contains a furin-like cysteine-rich …
|
View
|
| TMSB4X |
- |
|
|
This gene encodes an actin sequestering protein which plays a role in regulation of actin polymerization. The protein is also …
|
View
|
| COL12A1 |
- |
|
|
This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PLA2G5 |
- |
|
|
-
|
View
|
| RBP4 |
- |
|
|
This protein belongs to the lipocalin family and is the specific carrier for retinol (vitamin A alcohol) in the blood. …
|
View
|
| PWWP2 |
- |
|
|
-
|
View
|
| SPAG10 |
- |
|
|
-
|
View
|
| PGBD4 |
- |
|
|
The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon …
|
View
|
| PHF1 |
- |
|
|
This gene encodes a protein with significant sequence similarity to Drosophila Polycomblike. The encoded protein contains a zinc finger-like PHD …
|
View
|
| TOM1L1 |
- |
|
|
Probable adapter protein involved in signaling pathways. Interacts with the SH2 and SH3 domains of various signaling proteins when it …
|
View
|
| SPAG11 |
- |
|
|
This gene encodes several androgen-dependent, epididymis-specific secretory proteins. The specific functions of these proteins have not been determined, but they …
|
View
|
| SREBF2 |
- |
|
|
This gene encodes a ubiquitously expressed transcription factor that controls cholesterol homeostasis by stimulating transcription of sterol-regulated genes. The encoded …
|
View
|
| - |
- |
|
|
-
|
View
|
| AIM1 |
- |
|
|
May function as suppressor of malignant melanoma. It may exert its effects through interactions with the cytoskeleton.
|
View
|
| SMARCD2 |
- |
|
|
The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and …
|
View
|
| - |
- |
|
|
-
|
View
|
| C17orf35 |
- |
|
|
The function of putative receptor protein is unknown.
|
View
|
| TERF1 |
- |
|
|
This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present …
|
View
|
| NPHP1 |
- |
|
|
This gene encodes a protein with src homology domain 3 (SH3) patterns. Mutations in this gene cause familial juvenile nephronophthisis.
|
View
|
| GIMAP4 |
- |
|
|
This gene encodes a protein belonging to the GTP-binding superfamily and to the immuno-associated nucleotide (IAN) subfamily of nucleotide-binding proteins. …
|
View
|
| - |
- |
|
|
-
|
View
|
| FGFR1OP |
- |
|
|
This gene encodes a largely hydrophilic protein postulated to be a leucine-rich protein family member. A t(6;8)(q27;p11) chromosomal translocation, fusing …
|
View
|
| - |
- |
|
|
-
|
View
|
| FBXO38 |
- |
|
|
Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. May coactivate KLF7, but does not …
|
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| SYTL4 |
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Modulates exocytosis of dense-core granules and secretion of hormones in the pancreas and the pituitary. Interacts with vesicles containing negatively …
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| NOL7 |
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| CCL7 |
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This gene encodes monocyte chemotactic protein 3, a secreted chemokine which attracts macrophages during inflammation and metastasis. It is a …
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| CLEC7A |
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This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common …
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| MELL1 |
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The protein encoded by this gene is a member of the neutral endopeptidase (NEP) or membrane metallo-endopeptidase (MME) family. Family …
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| TTC7A |
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| WDSUB1 |
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| LEPR |
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Leptin (LEP; MIM 164160), an adipocyte-specific hormone that regulates adipose-tissue mass through hypothalamic effects on satiety and energy expenditure, acts …
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| C10orf51 |
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| CCDC5 |
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Regulator of spindle function and integrity during the metaphase-anaphase transition.
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| MAST1 |
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Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their …
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| - |
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