Persius/hicric huggingface dataset:
SOAT1
Sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1, also known as SOAT1, is an enzyme that in humans is encoded by the SOAT1 gene.

# Function
Acyl-coenzyme A:cholesterol acyltransferase (EC 2.3.1.26) is an intracellular protein located in the endoplasmic reticulum that forms cholesterol esters from cholesterol. Accumulation of cholesterol esters as cytoplasmic lipid droplets within macrophages and smooth muscle cells is a characteristic feature of the early stages of atherosclerotic plaques (Cadigan et al., 1988).

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. 
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SOCS2
Suppressor of cytokine signaling 2 is a protein that in humans is encoded by the SOCS2 gene.
This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signalling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10 and interferon-gamma (IFN-gamma). The protein encoded by this gene is found to interact with the cytoplasmic domain of insulin-like growth factor 1 receptor (IGF1R), and thus is thought to be involved in the regulation of IGF1R mediated cell signaling. Knockout studies in mice also suggested a regulatory role of this gene in IGF-1 related growth control.

# Interactions
SOCS2 has been shown to interact with insulin-like growth factor 1 receptor and erythropoietin receptor.
SOCS3
Suppressor of cytokine signaling 3 (SOCS3 or SOCS-3) is a protein that in humans is encoded by the SOCS3 gene. 
This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling.

# Function
The expression of SOCS3 gene is induced by various cytokines, including IL6, IL10, and interferon (IFN)-gamma.
For signaling of IL-6, Epo, GCSF and Leptin, binding of SOCS3 to the respective cytokine receptor has been found to be crucial for the inhibitory function of SOCS3.
Overexpression of SOCS3 inhibits insulin signaling in adipose tissue and the liver, but not in muscle. But deletion of SOCS3 in the skeletal muscle of mice protects against obesity-related insulin resistance.
SOCS3 contributes to both leptin resistance and insulin resistance as a result of increased ceramide synthesis. For that reason, studies have shown that removal of the SOCS gene prevents against insulin resistance in obesity
Studies of the mouse counterpart of this gene suggested the roles of this gene in the negative regulation of fetal liver hematopoiesis, and placental development.
The SOCS3 protein can bind to JAK2 kinase, and inhibits the activity of JAK2 kinase.

# Interactions
SOCS3 has been shown to interact with:
- Erythropoietin receptor,
- Glycoprotein 130,
- Insulin-like growth factor 1 receptor,
- Janus kinase 2,
- PTPN11,  and
- RAS p21 protein activator 1.

# Regulation
There is some evidence that the expression of SOCS3 is regulated by the microRNA miR-203.
SOCS7
Suppressor of cytokine signaling 7 is a protein that in humans is encoded by the SOCS7 gene.

# Model organisms
Model organisms have been used in the study of SOCS7 function. A conditional knockout mouse line, called Socs7tm1a(EUCOMM)Wtsi was generated as part of the International Knockout Mouse Consortium programa 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 five tests were carried out on mutant mice and one significant abnormality was observed: homozygous mutant males showed a decreased response to stress-induced hyperthermia.

# Interactions
SOCS7 has been shown to interact with NCK1.
SORL1
Sortilin-related receptor, L(DLR class) A repeats containing is a protein that in humans is encoded by the SORL1 gene.
SORL1 (also known as SORLA, SORLA1, or LR11) is a neuronal apolipoprotein E receptor, the gene for which is predominantly expressed in the central nervous system.

# Clinical significance
Mutation of the gene for apolipoprotein E (APOE) is predictive of Alzheimer's disease. Lack of the APOE receptor is suspected to be a contributory factor to Alzheimer's: a significant reduction in SORL1 (LR11) expression has been found in brain tissue of Alzheimer's disease patients. The APOE receptor has also been linked with regulation of amyloid precursor protein, faulty processing of which is implicated in Alzheimer's. A more recent study by a group of international researchers  supports the  proposition that SORL1 plays a part in seniors developing Alzheimer's disease, the findings being significant across racial and ethnic strata.
SOX10
Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene.

# Function
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and determination of cell fate. The encoded protein act as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development.
In melanocytic cells there is evidence that SOX10 gene expression may be regulated by MITF.

# Clinical significance
Mutations in this gene are associated with Waardenburg-Shah, Waardenburg-Hirschsprung disease, and with                 uveal melanoma            .

# Interactions
The interaction between SOX10 and PAX3 is studied best in human patients with Waardenburg syndrome, an autosomal dominant disorder which is divided into four different types based upon mutations in additional genes. SOX10 and PAX3 interactions are thought to be regulators of other genes involved in the symptoms of Waardenburg syndrome, particularly MITF which influences the development of melanocytes as well as neural crest formation. MITF expression can be transactivated by both SOX10 and PAX3 to have an additive effect. The two genes have binding sites near one another on the upstream enhancer of the c-RET gene.
SOX10 is also thought to target dopachrome tautomerase through a synergistic interaction with MITF which then results in other melanocyte alteration.
SOX10 can influence the generation of myelin protein transcription through its interactions proteins such as OLIG1 and EGR2, which is important for the functionality of neurons. Other cofactors have been identified, such as SP1, OCT6, NMI, FOXD3 and SOX2
The interaction between SOX10 and NMI seems to be coexpressed in glial cells, gliomas, and  the spinal cord and has been shown to modulate the transcriptional activity of SOX10.
SOX11
Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.

# Function
This intronless gene encodes a member of the group C SOX (SRY-related HMG-box) transcription factor family involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis and adult neurogenesis. Tuj1 and Tead2 are suggested as direct target of Sox11.

# Clinical aspect
Mutations in SOX11 are associated to                 Coffin-Siris syndrome            .
SOX13
Transcription factor SOX-13 is a protein that in humans is encoded by the SOX13 gene.

# Function
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12.
In melanocytic cells SOX13 gene expression may be regulated by MITF.
SOX21
Transcription factor SOX-21 is a protein that in humans is encoded by the SOX21 gene. It is a member of the Sox gene family of transcription factors.

# Function
In the chick embryo, Sox21 promotes neuronal cellular differentiation by counteracting the activity of Sox1, Sox2, and Sox3, which maintain neural cells in an undifferentiated state.
SOX21 knockout mice display hair loss beginning from postnatal day 11. New hair regrowth was initiated a few days later but was followed by renewed hair loss. Sox21 is also expressed in the hair shaft cuticle in humans and consequently variants of the Sox21 gene could be responsible for some hair loss conditions in humans.
SPDEF
SAM pointed domain-containing Ets transcription factor is a protein that in humans is encoded by the SPDEF gene.
PDEF is an ETS transcription factor expressed in prostate epithelial cells. It acts as an androgen-independent transactivator of PSA (MIM 176820) expression.

# Interactions
SPDEF has been shown to interact with NKX3-1.
The Protein Kinase CK2 has been shown to control the stability of PDEF.
Needed for the differentiation of both pulmonary and intestinal goblet cells
SPG20
Spartin is a protein that in humans is encoded by the SPG20 gene.
This gene encodes a protein that contains a MIT (Microtubule Interacting and Trafficking molecule) domain. This protein may be involved in endosomal trafficking, microtubule dynamics, or both functions. Frameshift mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome).
Troyer syndrome (SPG20) is a complicated type of hereditary spastic paraplegias (HSPs). HSP is a category of neurological disorder characterized by spasticity and muscle weakness in the lower limbs.

# Background
The original description of this gene mutation and associated symptoms were described in 1967. This mutation is commonly found in high frequency with the Amish population. Newer studies have found that the mutation is not isolated to the Amish population, but also resides in the Omani population.

# Presentation
This syndrome is not only characterized by  spasticity and weakness in the lower limbs, but also with dysarthria, mental retardation or mild developmental delay, and muscle wasting or muscle atrophy.

## Physical
Individuals appear to have difficulty walking, and report a clumsy, spastic gait which worsens over time.  Some additional common physical features include overgrowth of the jaw bone, hammer toes, hand and feet abnormalities, and pes cavus.

## Cognitive
Cognitive challenges, including developmental delay and difficulty with performance in school, may affect individuals with this syndrome.

## Neurologic
Neurologic examination of individuals with this mutation may show dysmetria in the upper extremities, hyperreflexia, distal amyotrophy and ankle clonus, in addition to spasticity, weakness and dysarthria.

## Diagnostic Imaging
The cerebellar vermis may present with mild atrophy and a loss of white matter volume.

## Through Lifespan
Facial dysmorphism and subtle skeletal features are common in younger children. The condition progressively worsens, as spasticity and distal amyotrophy symptoms are revealed more in teenage years. SPG20 expression in the adult is relatively modest, however it is widespread in the nervous system. Longitudinal comparison of magnetic resonance imaging concluded that there was a progression of the syndrome; thus, the condition appears to worsen over time.
SPNS2
Spinster homolog 2 (Drosophila) is a protein that in humans is encoded by the SPNS2 gene.

# Model organisms
Model organisms have been used in the study of SPNS2 function. A conditional knockout mouse line, called Spns2tm1a(KOMP)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.
Animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty eight tests were carried out on homozygous mutant mice of both sex and nine significant abnormalities were observed, including an absence of pinna reflex, abnormal eye pigmentation and morphology including cataracts, decreased leukocyte cell number, abnormal brainstem auditory evoked potential, increased bone mineral content and a range of atypical peripheral blood lymphocyte parameters. Males additionally displayed decreased circulating glucose and increased circulating bilirubin levels.
The orthologous protein in zebrafish has been shown to transport sphingosine-1-phosphate (S1P) out of cells during vascular development, and human SPNS2 can transport S1P analogues, including the immunomodulating drug FTY720-P.
SPRY2
Sprouty homolog 2 (Drosophila), also known as SPRY2, is a protein which in humans is encoded by the SPRY2 gene.

# Function
This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein.
SPRY2 is a negative feedback regulator of multiple receptor tyrosine kinases (RTK's) including receptors for fibroblast growth factor (FGF), epidermal growth factor (EGF), and hepatocyte growth factor (HGF).  Antagonization of growth factor mediated pathways, cell migration, and cellular differentiation occurs through the ERK pathway.  Spry2 can also enhance EGFR signaling by sequestering CBL.  Spry gene expression has been reported silenced or repressed in cancer of the breast, liver, lung, prostate, and in lymphoma. Human spry2 expression is localized to the microtubules in unstimulated cells.  All sprouty isoforms inhibit the ERK pathway by themselves, but can also form heterodimers and homodimers which have enhanced inhibition.

# Interactions
SPRY2 has been shown to interact with Cbl gene.
SRPK1
Serine/threonine-protein kinase SRPK1 is an enzyme that in humans is encoded by the SRPK1 gene.

# Function
This gene encodes a serine/arginine protein kinase specific for the SR (serine/arginine-rich domain) family of splicing factors. The protein localizes to the nucleus and the cytoplasm. It is thought to play a role in regulation of both constitutive and alternative splicing by regulating intracellular localization of splicing factors. A second alternatively spliced transcript variant for this gene has been described, but its full length nature has not been determined.
SRPK1 enables angiogenesis, which is regulated by VEGF, which either initiates or inhibits vessel formation depending on alternative splicing.

# Medical applications
Some cancers are vascular endothelial growth factor (VEGF) dependant (for angiogenesis). SRPK1 activates (phosphorylates) VEGF splicing factor. SRPK1 inhibitors (e.g. 'SPHINX compounds' ) are under investigation as treatments for prostate cancer, acute myeloid leukemia and neovascular eye disease.

# Interactions
SRPK1 has been shown to interact with:
- ASF/SF2 and
- SNRP70.
- C6orf201
STAG2
Cohesin subunit SA-2 is a protein that in humans is encoded by the STAG2 gene.

# Function
STAG2 is part of the cohesin complex, which is a structure that holds the sister chromatids together after DNA replication.  STAG2 has been shown to interact with STAG1.

# Role in Disease
Of the cohesin complex, STAG2 is the subunit where the most variants have been reported in cancer.  This is thought to be because this gene is located in the X chromosome, therefore only one mutation is needed to inactivate it.
STAM2
Signal transducing adapter molecule 2 is a protein that in humans is encoded by the STAM2 gene.

# Function
The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation.

# Interactions
STAM2 has been shown to interact with HGS, Janus kinase 1 and USP8.
STAT4
Signal transducer and activator of transcription 4 (STAT4) is a transcription factor belonging to the STAT protein family. It is required for the development of Th1 cells from naive CD4+ T cells and IFN- production in response to IL-12.

# Structure
Human as well murine STAT4 genes lie next to  STAT1 gene locus suggesting that the genes arose by gene duplication. STAT proteins have several functional domains, including an N-terminal interaction domain, a central DNA-binding domain, an SH2 domain, and the C-terminal transactivation domain.

# Expression
Distribution of STAT4 is restricted to myeloid cells, thymus and testis. In resting human T cells it is  expressed at very low levels, but its production is amplified by PHA stimulation.

# Activation
Two chains of IL-12 receptor form heterodimer after IL-12 binding and activate the receptor associated JAK kinases, termed JAK2 and TYK2. Stat4 is phosphorylated by these tyrosine kinases, homodimerizes via its SH2 domain and translocates into nucleus to activate gene transcription.

# Target genes
STAT4 binds to hundreds of sites in the genome, among others to the promoters of genes for cytokines (IFN-, TNF), receptors (IL18R1, IL12r2, IL18RAP), and signaling factors (MYD88).
STAT6
Signal transducer and activator of transcription 6 (STAT6) is a human gene.  The protein encoded by this gene is a member of the STAT family of transcription factors.
In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein plays a central role in exerting IL4 mediated biological responses. It is found to induce the expression of BCL2L1/BCL-X(L), which is responsible for the anti-apoptotic activity of IL4. Knockout studies in mice suggested the roles of this gene in differentiation of T helper 2 (Th2), expression of cell surface markers, and class switch of immunoglobulins.

# Interactions
STAT6 has been shown to interact with:
- CREB-binding protein,
- EP300,
- IRF4,
- NFKB1,
- Nuclear receptor coactivator 1,  and
- SND1.

# Pathology
- Gene fusion
Recurrent somatic fusions of the two genes, NGFI-Abinding protein 2 (NAB2) and STAT6, located at chromosomal region 12q13, have been identified in solitary fibrous tumors.
- Recurrent somatic fusions of the two genes, NGFI-Abinding protein 2 (NAB2) and STAT6, located at chromosomal region 12q13, have been identified in solitary fibrous tumors.
- Amplification
STAT6 is amplified in a subset of dedifferentiated liposarcoma.
- STAT6 is amplified in a subset of dedifferentiated liposarcoma.
STIM1
Stromal interaction molecule 1 is a protein that in humans is encoded by the STIM1 gene. STIM1 has a single transmembrane domain, and is localized to the endoplasmic reticulum, and to a lesser extent to the plasma membrane.
Even though the protein has been identified earlier, its function was unknown until recently. In 2005, it was discovered that STIM1 functions as a calcium sensor in the endoplasmic reticulum. Upon activation of the IP3 receptor, the calcium concentration in the endoplasmic reticulum decreases, which is sensed by STIM1, via its EF hand domain. STIM1 activates the "store-operated" ORAI1 calcium ion channels in the plasma membrane, via intracellular STIM1 movement, clustering under plasma membrane and protein protein interaction with ORAI isoforms. STIM1-mediated calcium entry is required for thrombin-induced disassembly of VE-cadherin adherens junctions. 2-Aminoethoxydiphenyl borate (2-APB) and 4-chloro-3-ethylphenol (4-CEP) cause STIM1 clustering in a cell and prevent STIM1 moving toward plasma membrane.

# Interactions
STIM1 has been shown to interact with ORAI1, TMEM110 (STIMATE), SERCA, TMEM66 (SARAF), and STIM2.
STK39
STE20/SPS1-related proline-alanine-rich protein kinase is an enzyme that in humans is encoded by the STK39 gene.
This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress.
Some studies suggest that this gene might be linked to high blood pressure.
STUB1
STUB1 (STIP1 homology and U-Box containing protein 1) is a human gene that codes for the protein CHIP (C terminus of HSC70-Interacting Protein). 

# Function
The CHIP protein encoded by this gene binds to and inhibits the ATPase activity of the chaperone proteins HSC70 and HSP70 and blocks the forward reaction of the HSC70-HSP70 substrate-binding cycle. In addition, CHIP possesses E3 ubiquitin ligase activity and promotes ubiquitylation, mainly of chaperone-bound misfolded proteins.
CHIP enhances HSP70 induction during acute stress and also mediates its turnover during the stress recovery process. Hence CHIP appears to maintain protein homeostasis by controlling chaperone levels during stress and recovery.
Mutations in STUB1 cause spinocerebellar                ataxia            type 16.

# Interactions
STUB1 has been shown to interact with:
- C-Raf,
- DNAJB1,
- HSPA1A,
- HSPA4,
- HSPA8,
- Parkin (ligase),  and
- RUNX2.