Persius/hicric huggingface dataset:
GFER
Growth factor, augmenter of liver regeneration (ERV1 homolog, S. cerevisiae), also known as GFER, or Hepatopoietin is a protein which in humans is encoded by the GFER gene. This gene is also known as essential for respiration and vegatative growth, augmenter of liver regeneration, and growth factor of Erv1-like/Hepatic regenerative stimulation substance. 

# Structure
The GFER gene is located on the p arm of chromosome 16 at position 13.3 and it spans 3,600 base pairs. The GFER gene produces a 15.4 kDa protein composed of 130 amino acids. The structure of the protein is a homodimer which has been found to be fairly similar to the scERV1 protein of yeast.

# Genomics
The gene resides on chromosome 16 in the interval containing the locus for polycystic kidney disease (PKD1). The putative gene product is 42% similar to the scERV1 protein of yeast. The human gene has three exons: the first encodes a 5' untranslated region and the first part of the protein; the second encodes the bulk of the protein; and the third the remainder.

# Molecular biology
Proteins of the ERV1/ALR family are encoded by all eukaryotes and cytoplasmic DNA viruses for which the sequence data are available. All possess a C-X-X-C motif within a ~100 amino acid domain

# Function
The hepatotrophic factor designated augmenter of liver regeneration (ALR) is thought to be one of the factors responsible for the extraordinary regenerative capacity of mammalian liver. It has also been called hepatic regenerative stimulation substance (HSS). The yeast scERV1 gene had been found to be essential for oxidative phosphorylation, the maintenance of mitochondrial genomes, and the cell division cycle. The human gene is both the structural and functional homolog of the yeast scERV1 gene.
This protein interacts with Mia40 during the import of intermembrane space proteins including the small Tim proteins Cox17 and Cox19 both of which have disulfide bonds.

# Clinical Significance
Mutations in GFER has been shown to result in Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD). MPMCHD is a disease characterized by progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay.

# Interactions
GFER has been shown to interact with COP9 constitutive photomorphogenic homolog subunit 5 and BNIPL.
GFM1
Elongation factor G 1, mitochondrial is a protein that in humans is encoded by the GFM1 gene.
Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known.

# Model organisms
Model organisms have been used in the study of GFM1 function. A conditional knockout mouse line, called Gfm1tm1a(EUCOMM)Wtsi was generated as part of the International Knockout Mouse Consortium program  a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty four tests were carried out on mutant mice and three significant abnormalities were observed. No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice and decreased circulating amylase levels were observed in male animals.
GGA1
ADP-ribosylation factor-binding protein GGA1 is a protein that in humans is encoded by the GGA1 gene.
This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) protein family. Members of this family are ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

# Interactions
GGA1 has been shown to interact with Sortilin 1, BACE2, RABEP1 and ARF3.
GGA2
ADP-ribosylation factor-binding protein GGA2 is a protein that in humans is encoded by the GGA2 gene.

# Function
This gene encodes a member of the Golgi-localized, gamma adaptin ear-containing, ARF-binding (GGA) family. This family includes ubiquitous coat proteins that regulate the trafficking of proteins between the trans-Golgi network and the lysosome. These proteins share an amino-terminal VHS domain which mediates sorting of the mannose 6-phosphate receptors at the trans-Golgi network. They also contain a carboxy-terminal region with homology to the ear domain of gamma-adaptins. This family member may play a significant role in cargo molecules regulation and clathrin-coated vesicle assembly.

# Interactions
GGA2 has been shown to interact with RABEP1, Sortilin 1, BACE2 and CLINT1.
GIT2
ARF GTPase-activating protein GIT2 is an enzyme that in humans is encoded by the GIT2 gene.

# Function
This gene encodes a member of the GIT protein family. GIT proteins interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. This gene undergoes extensive alternative splicing; although ten transcript variants have been described, the full length sequence has been determined for only four variants. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding.

# Model organisms
Model organisms have been used in the study of GIT2 function. A conditional knockout mouse line, called Git2Gt(XG510)Byg was generated as part of the International Knockout Mouse Consortium program  a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists  at the Wellcome Trust Sanger Institute.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.  Mice lacking Git2 had no significant defects in viability or fertility, so further tests were carried out and four significant phenotypes were reported:
- Mutant mice had differences in their clinical blood chemistry compared to wildtype control mice.
- Mutant male mice had a decrease in white blood cell count.
- An increased thickness in hippocampus was observed.
- Mutant female mice were slower to respond to heat when placed on a hotplate.

# Interactions
GIT2 has been shown to interact with GIT1.
GJB2
Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26)  is a protein that in humans is encoded by the GJB2 gene.

# Clinical significance
Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or GJB2-related deafness).
Connexin 26 also plays a role in tumor suppression through mediation of the cell cycle. The abnormal expression of Cx26, correlated with several types of human cancers, may serve as a prognostic factor for cancers such as colorectal cancer, breast cancer, and bladder cancer. Furthermore, Cx26 over-expression is suggested to promote cancer development by facilitating cell migration and invasion and by stimulating the self-perpetuation ability of cancer stem cells.

# Function
Gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into two categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 (GJA1) is designated alpha-1 gap junction protein, whereas GJB1 (CX32), and GJB2 (CX26; this protein) are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that GJB1 and GJB2 are more homologous to each other than either of them is to gap junction protein, alpha GJA1.
GJC2
Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.

# Function
This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans.

# Clinical significance
Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.
Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema.
GJC3
Gap junction gamma-3, also known as connexin-29 (Cx29) or gap junction epsilon-1 (GJE1), is a protein that in humans is encoded by the GJC3 gene.
GJC3 is a conexin.

# Function
This gene encodes a gap junction protein. The encoded protein is known as a connexin, most of which form gap junctions that provide direct connections between neighboring cells. However, Cx29, which is highly expressed in myelin-forming glial cells of the CNS and PNS, has not been documented to form gap junctions in any cell type. In both PNS and CNS myelinated axons, Cx29 is precisely colocalized with Kv1.2 voltage-gated K+ channels, where both proteins are concentrated in the juxtaparanode and along the inner mesaxon. By freeze-fracture immunogold labeling electron microscopy, Cx29 is identified in abundant "rosettes" of transmembrane protein particles in the innermost layer of myelin, directly apposed to equally abundant immunogold-labeled Kv1.1 potassium channels, both in the juxtaparanodal axolemma and along the inner mesaxon. A role in K+ handling during saltatory conduction is implied but not yet demonstrated.

# Clinical significance
Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.
GLB1
Galactosidase, beta 1, also known as GLB1, is a protein which in humans is encoded by the GLB1 gene.
The GLB1 protein is a beta-galactosidase that cleaves the terminal beta-galactose from ganglioside substrates and other glycoconjugates. The GLB1 gene also encodes an elastin binding protein.
In corn (Zea mays), Glb1 is a gene coding for the storage protein globulin.

# Clinical significance
GM1-gangliosidosis is a lysosomal storage disease that can be caused by a deficiency of -galactosidase (GLB1). Some cases of Morquio syndrome B have been shown to be due to GLP1 mutations that cause patients to have abnormal elastic fibers.

# Elastin receptor
The RNA transcript of the GLB1 gene is alternatively spliced and produces 2 mRNAs. The 2.5-kilobase transcript encodes the beta-galactosidase enzyme of 677 amino acids. The alternative 2.0-kb mRNA encodes a beta-galactosidase-related protein (S-Gal) that is only 546 amino acids long and that has no enzymatic activity. The S-Gal protein does bind elastin and fragments of elastin that are generated by proteolysis.
The S-Gal protein is a peripheral membrane protein that functions as part of an elastin receptor complex on the surface of cells. The elastin receptor complex includes S-Gal, neuraminidase and Cathepsin A. When elastin-derived peptides bind to the S-Gal protein then the associated neuraminidase enzyme activity is activated and responding cells can have altered signal transduction involving extracellular signal-regulated kinases and regulated matrix metallopeptidase production. Elastin-derived peptides are chemotactic for some cell types and can alter cell cycle progression. The ability of the GLB1-derived elastin binding protein and the elastin receptor complex to influence cell proliferation appears to be indirect and involve removal of sialic acid from extracellular and cell surface proteins such as growth factor receptors.
The S-Gal protein functions during the normal assembly of elastin into extracellular elastic fibers. Elastin is initially present as newly synthesized tropoelastin which can be found in association with S-Gal. The enzymatic activity of neuraminidase in the elastin receptor complex is involved in the release of tropoelastin molecules from the S-Gal chaperone. Cathepsin A is also required for normal elastin biosynthesis.
GLI3
Zinc finger protein GLI3 is a protein that in humans is encoded by the GLI3 gene.
This gene encodes a protein that belongs to the C2H2-type zinc finger proteins subclass of the Gli family. They are characterized as DNA-binding transcription factors and are mediators of Sonic hedgehog (Shh) signaling. The protein encoded by this gene localizes in the cytoplasm and activates patched Drosophila homolog (PTCH1) gene expression. It is also thought to play a role during embryogenesis.

# Role in development
Gli3 is a known transcriptional repressor but may also have a positive transcriptional function.  Gli3 represses dHand and Gremlin, which are involved in developing digits.  There is evidence that Shh-controlled processing (e.g., cleavage) regulates transcriptional activity of Gli3 similarly to that of Ci.  Gli3 mutant mice have many abnormalities including CNS and lung defects and limb polydactyly.  In the developing mouse limb bud, Gli3 derepression predominately regulates Shh target genes.

# Disease association
Mutations in this gene have been associated with several diseases, including Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, and postaxial polydactyly types A1 and B. DNA copy-number alterations that contribute to increased conversion of the oncogenes Gli13 into transcriptional activators by the Hedgehog signaling pathway are included in a genome-wide pattern, which was found to be correlated with an astrocytoma patients outcome.
There is evidence that the autosomal dominant disorder Greig cephalopolysyndactyly syndrome (GCPS) that affects limb and craniofacial development in humans is caused by a translocations within the GLI3 gene.

# Interactions with Gli1 and Gli2
The independent overexpression Gli1 and Gli2 in mice models to lead to formation of basal cell carcinoma (BCC).  Gli1 knockout is shown to lead to similar embryonic malformations as Gli1 overexpressions but not the formation of BCCs.  Overexpression of Gli3 in transgenic mice and frogs does not lead to the development of BCC-like tumors and is not thought to play a role in tumor BCC formation.
Gli1 and Gli2 overexpression leads to BCC formation in mouse models and a one step model for tumour formation has been suggested in both cases.  This also indicates that Gli1 and/or Gli2 overexpression is vital in BCC formation.  Co-overexpression of Gli1 with Gli2 and Gli2 with Gli3 leads to transgenic mice malformations and death, respectively, but not the formation of BCC.  This suggests that overexpression of more than one Gli protein is not necessary for BCC formation.

# Interactions
GLI3 has been shown to interact with CREBBP SUFU, ZIC1, and ZIC2.
GLMN
Glomulin is a protein that in humans is encoded by the GLMN gene.
This gene encodes a phosphorylated protein that is a member of a Skp1-Cullin-F-box-like complex. The protein is essential for normal development of the vasculature and mutations in this gene have been associated with glomuvenous malformations, also called glomangiomas. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined.

# Interactions
GLMN has been shown to interact with FKBP52, C-Met and FKBP1A.
GLS2
Glutaminase 2 (liver, mitochondrial) is a protein that in humans is encoded by the GLS2 gene.

# Structure
The GLS2 gene is on the 12th chromosome in humans, with its specific location being 12q13.3. It contains 19 exons.

# Function
GLS2 is a part of the glutaminase family. The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms.

# Clinical significance
GLS2 has interesting molecular relationships with tumor progression and cancer. Glutaminase 2 negatively regulates the PI3K/AKT signaling and shows tumor suppression activity in human hepatocellular carcinoma. Additionally, silencing of GLS and overexpression of GLS2 genes cooperate in decreasing the proliferation and viability of glioblastoma cells.
GM2A
GM2 ganglioside activator also known as GM2A is a protein which in humans is encoded by the GM2A gene.

# Function
The protein encoded by this gene is a small glycolipid transport protein which acts as a substrate specific co-factor for the lysosomal enzyme -hexosaminidase A. -hexosaminidase A, together with GM2 ganglioside activator, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines.
GM2A is a lipid transfer protein that stimulates the enzymatic processing of gangliosides, and also T-cell  activation through lipid presentation. This protein binds molecules of ganglioside GM2, extracts them from membranes, and presents them to beta-hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.
It was identified as a member of ML domain family of proteins involved in innate immunity and lipid metabolism in the SMART database. 

# Regulation
In melanocytic cells GM2A gene expression may be regulated by MITF.

# Clinical significance
Mutations in this gene, inherited in an autosomal recessive pattern, result in GM2-gangliosidosis, AB variant, a rare GM2 gangliosidosis that has symptoms and pathology identical with Tay-Sachs disease and Sandhoff disease.
GM2A mutations are rarely reported, and the cases that are observed often occur with consanguineous parents or in genetically isolated populations.
Because AB variant is so rarely diagnosed, even in infants, it is likely that most mutations of GM2A are fatal in the fetus in homozygotes and genetic compounds, and thus are never observed clinically.
GNAQ
Guanine nucleotide-binding protein G(q) subunit alpha is a protein that in humans is encoded by the GNAQ gene. Together with GNA11 (its paralogue), it functions as a Gq alpha subunit.

# Function
Guanine nucleotide-binding proteins are a family of heterotrimeric proteins that couple cell surface, 7-transmembrane domain receptors to intracellular signaling pathways. Receptor activation catalyzes the exchange of GDP for GTP bound to the inactive G protein alpha subunit resulting in a conformational change and dissociation of the complex. The G protein alpha and beta-gamma subunits are capable of regulating various cellular effectors. Activation is terminated by a GTPase intrinsic to the G-alpha subunit. G-alpha-q is the alpha subunit of one of the heterotrimeric GTP-binding proteins that mediates stimulation of phospholipase C-beta (MIM 600230).
Mutations in this gene have been found associated to cases of Sturge-Weber syndrome and port-wine stains.

# Interactions
GNAQ has been shown to interact with:
- Beta adrenergic receptor kinase,
- Bruton's tyrosine kinase,
- RGS16,
- RGS4
- RIC8A,  and
- Sodium-hydrogen antiporter 3 regulator 1.
GNAZ
Guanine nucleotide-binding protein G(z) subunit alpha is a protein that in humans is encoded by the GNAZ gene.

# Function
The protein encoded by this gene is a member of a G protein subfamily that mediates signal transduction in pertussis toxin-insensitive systems.  This encoded protein may play a role in maintaining the ionic balance of perilymphatic and endolymphatic cochlear fluids.

# Interactions
GNAZ has been shown to interact with EYA2, RGS20 and RGS19.
GNB1
Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 is a protein that in humans is encoded by the GNB1 gene.

# Function
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. This gene uses alternative polyadenylation signals.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles.
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# Interactions
GNB1 has been shown to interact with GNG4.
GNB5
Guanine nucleotide-binding protein subunit beta-5 is a protein that in humans is encoded by the GNB5 gene. Alternatively spliced transcript variants encoding different isoforms exist.

# Function
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors.
GNB5 has been shown to differentially control RGS protein stability and membrane anchor binding, and therefore is involved in the control of complex neuronal G protein signaling pathways.

# Interactions
GNB5 has been shown to interact with:
- GNG7,
- GNG13,
- RGS7 and
- RGS9.