| - |
- |
|
|
-
|
View
|
| 3-Sep |
- |
|
|
This gene belongs to the septin family of GTPases. Members of this family are required for cytokinesis. Expression is upregulated …
|
View
|
| C20orf155 |
- |
|
|
-
|
View
|
| TERF2IP |
- |
|
|
May play a role in telomere length regulation.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PHYHIPL |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SCRN2 |
- |
|
|
-
|
View
|
| MLANA |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NANOS3 |
- |
|
|
-
|
View
|
| PRPS2 |
- |
|
|
-
|
View
|
| LRRC36 |
- |
|
|
-
|
View
|
| C5orf13 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LRRC33 |
- |
|
|
-
|
View
|
| CYFIP1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| OMD |
- |
|
|
May be implicated in biomineralization processes. Has a function in binding of osteoblasts via the alpha(V)beta(3)- integrin (By similarity).
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| LCE1E |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TPCN2 |
- |
|
|
-
|
View
|
| CPT1C |
- |
|
|
-
|
View
|
| IGHV1-69 |
- |
|
|
-
|
View
|
| MFAP2 |
- |
|
|
Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| WBSCR18 |
- |
|
|
This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| PLG |
- |
|
|
-
|
View
|
| RAB30 |
- |
|
|
-
|
View
|
| HBS1L |
- |
|
|
-
|
View
|
| SDK2 |
- |
|
|
The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains two immunoglobulin domains and …
|
View
|
| GOPC |
- |
|
|
PIST is a PDZ domain-containing Golgi protein. PDZ domains contain approximately 90 amino acids and bind the extreme C terminus …
|
View
|
| ZNF480 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CDH1 |
- |
|
|
This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein …
|
View
|
| - |
- |
|
|
-
|
View
|
| QPCTL |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
This gene encodes a selenoprotein containing selenocysteine at the active site. The selenocysteine is encoded by the ususal nonsense codon …
|
View
|
| - |
- |
|
|
-
|
View
|
| CEACAM5 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| TMEM27 |
- |
|
|
-
|
View
|
| CBX5 |
- |
|
|
Heterochromatin protein-1 (HP1) is a methyl-lysine binding protein localized at heterochromatin sites, where it mediates gene silencing.[supplied by OMIM]
|
View
|
| ARHGAP10 |
- |
|
|
-
|
View
|
| FOXQ1 |
- |
|
|
-
|
View
|
| C9orf75 |
- |
|
|
-
|
View
|
| GPKOW |
- |
|
|
-
|
View
|
| HOXC8 |
- |
|
|
This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors …
|
View
|
| CYP46A1 |
- |
|
|
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze …
|
View
|
| - |
- |
|
|
-
|
View
|
| HHLA1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC19A2 |
- |
|
|
High-affinity transporter for the intake of thiamine.
|
View
|
| - |
- |
|
|
-
|
View
|
| GPR35 |
- |
|
|
Orphan receptor.
|
View
|
| ZBED2 |
- |
|
|
-
|
View
|
| ST5 |
- |
|
|
This gene was identified by its ability to suppress the tumorigenicity of Hela cells in nude mice. The protein encoded …
|
View
|
| HMGCS2 |
- |
|
|
This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase.
|
View
|
| ITM2A |
- |
|
|
-
|
View
|
| ST6GALNAC3 |
- |
|
|
Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of …
|
View
|
| - |
- |
|
|
-
|
View
|
| PSMA4 |
- |
|
|
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed …
|
View
|
| GNA11 |
- |
|
|
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Acts as an activator …
|
View
|
| STAC |
- |
|
|
Probably involved in a neuron-specific signal transduction.
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| RPL12L2 |
- |
|
|
-
|
View
|
| EGFL4 |
- |
|
|
-
|
View
|
| ATP5H |
- |
|
|
Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It …
|
View
|
| - |
- |
|
|
-
|
View
|
| RIMS3 |
- |
|
|
Regulates synaptic membrane exocytosis (By similarity).
|
View
|
| TNFAIP2 |
- |
|
|
This gene was identified as a gene whose expression can be induced by the tumor necrosis factor alpha (TNF) in …
|
View
|
| SRGAP1 |
- |
|
|
This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and plays a role …
|
View
|
| C9orf67 |
- |
|
|
-
|
View
|
| ZMYM1 |
- |
|
|
-
|
View
|
| GDF3 |
- |
|
|
The protein encoded by this gene is a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily. …
|
View
|
| - |
- |
|
|
-
|
View
|
| GZMH |
- |
|
|
This enzyme is probably necessary for target cell lysis in cell-mediated immune responses.
|
View
|
| SFRS11 |
- |
|
|
This gene encodes 54-kD nuclear protein that contains an arginine/serine-rich region similar to segments found in pre-mRNA splicing factors. Although …
|
View
|
| DOC2B |
- |
|
|
There are at least two protein isoforms of the Double C2 protein, namely alpha (DOC2A) and beta (DOC2B), which contain …
|
View
|
| CXorf9 |
- |
|
|
SLY contains an Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins …
|
View
|
| FAM54A |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| SLC28A1 |
- |
|
|
Sodium-dependent and pyrimidine-selective. Exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (selective for pyrimidine …
|
View
|
| RABGGTA |
- |
|
|
Catalyzes the transfer of a geranyl-geranyl moiety from geranyl-geranyl pyrophosphate to both cysteines in Rab proteins with an -XXCC, -XCXC …
|
View
|
| 8-Mar |
- |
|
|
-
|
View
|
| TRAF3IP1 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| CYB561D2 |
- |
|
|
-
|
View
|
| DHRS6 |
- |
|
|
-
|
View
|
| BST2 |
- |
|
|
Bone marrow stromal cells are involved in the growth and development of B-cells. The specific function of the protein encoded …
|
View
|
| RIOK1 |
- |
|
|
This gene includes two alternatively spliced transcript variants, which encode different isoforms. The function of this gene has not been …
|
View
|
| KRTAP17-1 |
- |
|
|
This protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate …
|
View
|
| - |
- |
|
|
-
|
View
|
| P2RY11 |
- |
|
|
The product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with …
|
View
|
| CLSPN |
- |
|
|
Xenopus claspin is an essential upstream regulator of checkpoint kinase 1 and triggers a checkpoint arrest of the cell cycle …
|
View
|
| CUEDC1 |
- |
|
|
-
|
View
|
| C1orf2 |
- |
|
|
-
|
View
|
| PPP1R7 |
- |
|
|
-
|
View
|
| DHX9 |
- |
|
|
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number …
|
View
|
| PYGO2 |
- |
|
|
Involved in signal transduction through the Wnt pathway.
|
View
|
| - |
- |
|
|
-
|
View
|
| KRTHB1 |
- |
|
|
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, …
|
View
|
| C15orf25 |
- |
|
|
-
|
View
|
| HPCAL4 |
- |
|
|
The protein encoded by this gene is highly similar to human hippocalcin protein and hippocalcin like-1 protein. It also has …
|
View
|
| - |
- |
|
|
-
|
View
|
| NUMA1 |
- |
|
|
May be a structural component of the nucleus.
|
View
|
| - |
- |
|
|
-
|
View
|
| SSU72 |
- |
|
|
-
|
View
|
| LHB |
- |
|
|
This gene is a member of the glycoprotein hormone beta chain family and encodes the beta subunit of luteinizing hormone …
|
View
|
| EDEM1 |
- |
|
|
Extracts misfolded glycoproteins, but not glycoproteins undergoing productive folding, from the calnexin cycle. It is directly involved in endoplasmic reticulum-associated …
|
View
|
| G6PC |
- |
|
|
Glucose-6-phosphatase is an integral membrane protein of the endoplasmic reticulum that catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and …
|
View
|
| CLDN4 |
- |
|
|
This gene encodes an integral membrane protein, which belongs to the claudin family. The protein is a component of tight …
|
View
|
| SRRM2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
This gene shares high sequence similarity with the genes WBSCR20A and WBSCR20C; these three genes are the products of gene …
|
View
|
| IFRD2 |
- |
|
|
-
|
View
|
| C14orf124 |
- |
|
|
-
|
View
|
| RHOBTB3 |
- |
|
|
RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 …
|
View
|
| KLHL23 |
- |
|
|
-
|
View
|
| RNMT |
- |
|
|
-
|
View
|
| UPP1 |
- |
|
|
Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1- phosphate. The produced molecules are …
|
View
|
| WBP1 |
- |
|
|
The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including …
|
View
|
| - |
- |
|
|
-
|
View
|
| PTGES2 |
- |
|
|
The protein encoded by this gene is a membrane-associated prostaglandin E synthase, which catalyzes the conversion of prostaglandin H2 to …
|
View
|
| FMN2 |
- |
|
|
Formin homology (FH) domain proteins (e.g., FMN; MIM 136535) play a role in cytoskeletal organization and/or establishment of cell polarity.[supplied …
|
View
|
| ARF4 |
- |
|
|
ADP-ribosylation factor 4 (ARF4) is a member of the human ARF gene family. These genes encode small guanine nucleotide-binding proteins …
|
View
|
| KRIT1 |
- |
|
|
-
|
View
|
| PTP4A1 |
- |
|
|
The protein encoded by this gene belongs to a small class of prenylated protein tyrosine phosphatases (PTPs), which contains a …
|
View
|
| ADAM19 |
- |
|
|
This gene encodes a disintegrin and metalloprotease (ADAM) domain 19, which is a member of the ADAM protein family. Members …
|
View
|
| TSC2 |
- |
|
|
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
This gene encodes a selenoprotein, which contains selenocysteine at the active site. The selenocysteine is encoded by the usual stop …
|
View
|
| ISOC2 |
- |
|
|
-
|
View
|
| MFRP |
- |
|
|
-
|
View
|
| RBM4 |
- |
|
|
May play a role in alternative splice site selection during pre-mRNA processing.
|
View
|
| NPM2 |
- |
|
|
Probably involved in sperm DNA decondensation during fertilization.
|
View
|
| PDZK3 |
- |
|
|
Proteins containing PDZ domains have been shown frequently to bind the C-termini of transmembrane receptors or ion channels. They have …
|
View
|
| ATP6V1C1 |
- |
|
|
This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase …
|
View
|
| KIAA1189 |
- |
|
|
-
|
View
|
| SLC16A10 |
- |
|
|
SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic …
|
View
|
| ZNF596 |
- |
|
|
-
|
View
|
| PELO |
- |
|
|
This gene encodes a protein which contains a conserved nuclear localization signal. The encoded protein may have a role in …
|
View
|
| NKX2-3 |
- |
|
|
NKX2C is a member of the NKX family of homeodomain-containing transcription factors, which are implicated in many aspects of cell …
|
View
|
| CKS1B |
- |
|
|
CKS1B protein binds to the catalytic subunit of the cyclin dependent kinases and is essential for their biological function. The …
|
View
|
| DKKL1 |
- |
|
|
The dickkopf protein family interacts with the Wnt signaling pathway and its members are characterized by two conserved cysteine-rich domains. …
|
View
|
| C9orf25 |
- |
|
|
The protein encoded by this gene has homologs that have been identified in mouse and macaque. The mouse and human …
|
View
|
| - |
- |
|
|
-
|
View
|
| FKBP14 |
- |
|
|
PPIases accelerate the folding of proteins during protein synthesis.
|
View
|
| OR2H4P |
- |
|
|
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a …
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ALPK2 |
- |
|
|
-
|
View
|
| - |
- |
|
|
RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; …
|
View
|
| C14orf35 |
- |
|
|
-
|
View
|
| NAPB |
- |
|
|
Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus (By similarity).
|
View
|
| ADRA1D |
- |
|
|
Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation …
|
View
|
| NEUROG3 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| ZNF265 |
- |
|
|
-
|
View
|
| PRKCH |
- |
|
|
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and …
|
View
|
| GALNS |
- |
|
|
This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin …
|
View
|
| SLC2A11 |
- |
|
|
Facilitative glucose transporter (By similarity).
|
View
|
| PPIL4 |
- |
|
|
This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved family, members …
|
View
|
| TCF1 |
- |
|
|
Required for the expression of several liver specific genes. Binds to the inverted palindrome 5'-GTTAATNATTAAC-3'.
|
View
|
| LMLN |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| BFSP1 |
- |
|
|
More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like …
|
View
|
| C15orf5 |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| - |
- |
|
|
-
|
View
|
| NDUFB7 |
- |
|
|
The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is …
|
View
|
| SYT8 |
- |
|
|
Synaptotagmins, such as SYT8, share a common domain structure that includes a transmembrane domain and a cytoplasmic region composed of …
|
View
|
| CLDN10 |
- |
|
|
This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. …
|
View
|
| HIST1H4E |
- |
|
|
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules …
|
View
|
| - |
- |
|
|
-
|
View
|
| SFI1 |
- |
|
|
-
|
View
|
| C6orf74 |
- |
|
|
-
|
View
|