Persius/hicric huggingface dataset:
CHCHD10
Coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial, also known as Protein N27C7-4 is a protein that in humans is encoded by the CHCHD10 gene.

# Structure
The CHCHD10 gene is located on the q arm of chromosome 22 at position 11.23 and it spans 2,138 base pairs. The CHCHD10 gene produces a 14.9 kDa protein composed of 149 amino acids. It is enriched at cristae junctions in the intermembrane space of the mitochondria. The structure of the protein contains a nonstructured N-terminal region, a hydrophobic helix and a C-terminal CHCH domain which contains a Cx(9)C motif and two additional cysteines. A total of four cysteines are predicted to form two disulfide bonds.

# Function
This gene encodes for a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation.

# Clinical significance
CHCHD10-related disorders include Myopathy, isolated mitochondrial, autosomal dominant (IMMD), Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2), Spinal muscular atrophy, Jokela type (SMAJ).

## Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (FTDALS2) is a neurodegenerative disorder with high intrafamilial variation with phenotypes such as 
frontotemporal dementia and/or amyotrophic lateral sclerosis. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.

## Spinal muscular atrophy, Jokela type (SMAJ)
Spinal muscular atrophy, Jokela type (SMAJ) is an autosomal dominant, slowly progressive, lower motor neuron disease. SMAJ is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder results in weakness and mild muscle atrophy later in life.

## Myopathy, isolated mitochondrial, autosomal dominant (IMMD)
Myopathy, isolated mitochondrial, autosomal dominant (IMMD) is a mitochondrial myopathy presenting with severe exercise intolerance, progressive proximal weakness, and lactic acidemia. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles.

## Others
Mutations in CHCHD10 has also been found to be associated with cerebellar ataxia, frontotemporal dementia (FTD), and other mitochondrial diseases.

# Interactions
CHCHD10 has been known to interact with C1QBP, CLPX,FAF1,RNASEH1,ZNF444,KLF13, and other proteins.
CLC bio
CLC bio is a bioinformatics solution provider based in Aarhus, Denmark. CLC bio's software workbenches have more than 50,000 users in more than 100 countries around the globe.

# Software
The company started out making a free  desktop workbench for basic bioinformatics, CLC Free Workbench, which was released in July 2005. Commercial workbenches for advanced bioinformatics have been added since. CLC bio's software is platform independent and can thus be used for both Mac OS X, Windows, and Linux.

# Hardware
The company has also developed high-performance computing solutions, focusing on accelerating scientifically proven algorithms such as HMMER, Smith-Waterman and ClustalW.  CLC Bioinformatics Cube  and CLC Bioinformatics Cell  have garnered considerable positive attention in several independent industry publications such as GenomeWeb, BioInform, and Bio-IT World.
CLEC16A
C-type lectin domain family 16, also known as CLEC16A, is a protein that in humans is encoded by the CLEC16A gene.

# Function
Little is known regarding the function of the CLEC16A protein, however it is shown to be highly expressed on B-lymphocytes, natural killer (NK) and dendritic cells. Despite its name CLEC16A may not function as a lectin because its C-type lectin domain is only 20 amino-acids long.

# Clinical significance
Polymorphisms in the CLEC16A gene are associated with an increased risk of multiple sclerosis as well as type I diabetes.
CNTNAP2
Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.
Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome 
This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.6% of chromosome 7 and is one of the largest genes in the human genome. It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.

# Clinical significance
CNTNAP2 has been associated with autism spectrum disorder but accounts for very few cases.
CNTNAP2 may also be related to a disorder called specific language impairment.

# Interactions
CNTNAP2 has been shown to interact with CNTN2.
CSRP2BP
CSRP2 binding protein is a protein that in humans is encoded by the CSRP2BP gene.
CSRP2 is a protein containing two LIM domains, which are double zinc finger motifs found in proteins of diverse function. CSRP2 and some related proteins are thought to act as protein adapters, bridging two or more proteins to form a larger protein complex. The protein encoded by this gene binds to one of the LIM domains of CSRP2 and contains an acetyltransferase domain. Although the encoded protein has been detected in the cytoplasm, it is predominantly a nuclear protein. Alternatively spliced transcript variants have been described.

# Model organisms
Model organisms have been used in the study of CSRP2BP function. A conditional knockout mouse line, called Csrp2bptm1a(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.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.
Twenty seven tests were carried out on mutant mice and eight significant abnormalities were observed. Fewer than expected homozygous mutant embryos were identified during gestation. Fewer also survived until weaning. Male homozygous mutant's eyelids fail to open, they had abnormal eye size, a decreased susceptibility to bacterial infection and a decreased body length.  Female homozygous mutants had a decreased lean body mass. Animals of both sex also had corneal opacity and spinal abnormalities (including scoliosis and fusion of vertebral arches).
CTTNBP2
Cortactin-binding protein 2 is a protein that in humans is encoded by the CTTNBP2 gene.

# Function
This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton.

# Interactions
CTTNBP2 has been shown to interact with:
- MOBKL3,
- PPP2CA,
- RP6-213H19.1,
- STRN3,  and
- STRN.

# Model organisms
Model organisms have been used in the study of CTTNBP2 function. A conditional knockout mouse line called Cttnbp2tm1b(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed:  - In-depth immunological phenotyping
CXorf36
Chromosome X open reading frame 36 (CXorf36) is a gene that in humans encodes a protein hypothetical protein LOC79742. This protein has a function that is not currently very well understood. Other known aliases are FLJ14103, DKFZp313K0825, FLJ55198, PRO3743, FLJ55198, hCG1981635, bA435K1.1, and 4930578C19Rik.

# Gene
The CXorf36 gene is located at Xp11.3.
It can be transcribed into 8 different transcript variants, which in turn can produce 6 different isoforms of the protein.
The genomic DNA is 52,529 base pairs long, while the longest mRNA that it produces is 4,735 bases long.

## Gene Neighborhood
CXorf36 is closely surrounded by the following genes on chromosome X:
- DUSP21
- KDM6A
- MIR222
- TBX20
CXorf36 is also surrounded by two other genes on chromosome X that have been implicated in X-linked mental retardation.
- Synaptophysin
- CASK

# Protein
The longest protein isoform that is produced by the CXorf36 gene is termed hypothetical protein LOC79742 isoform 1 and is 433 amino acids long. The protein has a predicated molecular weight of 48.6 kDa and isoelectric point of 8.11.

## Domains
The CXorf36 gene protein product contains a region of low complexity from position 16 to position 40.

## Post-translational Modification
The CXorf36 protein is predicted to undergo phosphorylation at several serines, threonines, and tyrosines throughout the structure. However, many of these sites are predicted at serines. There is also a predicted N-linked glycosylation site at position 100 on the protein product.

# Expression
CXorf36 is shown to be expressed ubiquitously at low levels in various tissues throughout the body. It is expressed highly in the ciliary ganglion, ovary, and uterus corpus. However, highest expression is seen in the trigeminal ganglion tissue.

# Conservation
CXorf36 has one paralog in humans known as C3orf58. Orthologs have been found in all mammals and through numerous eukaryotes. However, conservation of the full gene halts past this, most likely a result of duplication from the ancestral gene into CXorf36 and C3orf58. The full list of organisms in which orthologs have been found is given below.
- Pongo abelii
- Macaca mulatta
- Callithrix jacchus
- Canis familiaris
- Ailuropoda melanoleuca
- Equus caballus
- Oryctolagus cuniculus
- Mus musculus
- Rattus norvegicus
- Monodelphis domestica
- Ornithorhynchus anatinus
- Taeniopygia guttata
- Gallus gallus
- Danio rerio
- Bos taurus
CXorf67
Uncharacterized protein CXorf67 is a protein that in humans is encoded by the CXorf67 gene. The Accession Number for the human gene is NM_203407. Aliases include MGC47837 and LOC340602. The gene is located on the positive strand of the X chromosome at Xp11.22. The mRNA is 1939 base pairs long and contains 1 exon and no introns.

# Expression
Expression of CXorf67 in humans is generally low in all tissues. Higher RNA expression has been reported in the testis and placenta and relatively higher nuclear protein expression has been observed in the placenta, testis and ovarian follicles.

# Protein
The translated human CXorf67 protein is 503 amino acids in length. The protein has a molecular weight of 51.9 kdal and an isoelectric point of 10.432

## Interactions
Protein interaction of CXorf67 with UBC (polyubiquitin-C) in humans was identified using a two-hybrid screening. Currently no other protein interactions have been identified in humans.

# Function
The function of CXorf67 is currently unknown, however the fusion of CXorf67 with the MBTD1 gene has been linked to low-grade endometrial stromal sarcoma in humans. Sequence variants of the chromosomal region Xp11.22 are also predicted to confer susceptibility to prostate cancer in humans.
CYP26A1
Cytochrome P450 26A1 is a protein that in humans is encoded by the CYP26A1 gene.

# Function
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein acts on retinoids, including all-trans-retinoic acid (RA), with both 4-hydroxylation and 18-hydroxylation activities. This enzyme regulates the cellular level of retinoic acid which is involved in regulation of gene expression in both embryonic and adult tissues. Two alternatively spliced transcript variants of this gene, which encode the distinct isoforms, have been reported.
CYP26A1 is over-expressed in colorectal cancer cells compared to normal colonic epithelium but is of no independent prognostic value in patients with colorectal cancer.
CYP26B1
Cytochrome P450 26B1 is a protein that in humans is encoded by the CYP26B1 gene.
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that catalyze many reactions involved in drug metabolism and the synthesis of cholesterol, steroids and other lipids. The enzyme encoded by this gene is involved in the specific inactivation of all-trans-retinoic acid to hydroxylated forms, such as 4-oxo-, 4-OH-, and 18-OH-all-trans-retinoic acid.
In a developing mouse embryo, CYP26B1 is expressed in the distal tip of the forming limb bud with an abundance in the apical ectodermal ridge. In a knockout mouse model, mice manifest with severe limb malformations and die after birth due to respiratory distress. However, if the expression of CYP26B1 is conditionally deleted only prior to E9.5, the limbs are not as severely truncated and more digits are visible. Research suggests that this differenece is attributable to the timing of chrondroblast differentiation.
CYP26B1 has been shown to be over-expressed in colorectal cancer cells compared to normal colonic epithelium. CYP26B1 expression was also independently prognostic in patients with colorectal cancer and strong expression was associated with a poorer outcome.
In a genome-wide study, CCHCR1, TCN2, TNXB, LTA, FASN, and CYP26B1 were identified as loci associated with a risk for developing esophageal squamous cell carcinoma. Of these loci, CYP26B1 exhibited the highest effect size. Moreover, the CYP26B1 locus was found to have two alleles with differing capacities to catabolize all-trans retinoic acid, a chemotherapeutic agent. When the allele with the higher catabolic capacity, rs138478634-GA, was overexpressed, cell proliferation was significantly enhanced in comparison to the other allele, rs138478634-GG. Additionally, research is suggestive of a lifestyle interaction where individuals with the risk allele who partake in smoking or drinking present with an odd-ratio over 2-fold higher than smokers or drinkers without the variant or individuals who refrain.
CYP26C1
CYP26C1   (cytochrome P450, family 26, subfamily c, polypeptide 1) is a protein which in humans is encoded by the CYP26C1 gene.
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues.
CYP26C1 was found to show no expression in colorectal cancer cells or normal colonic epithelium.
CYP27C1
CYP27C1   (cytochrome P450, family 27, subfamily C, polypeptide 1) is a protein that in humans is encoded by the CYP27C1 gene.
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids.

# Popular culture
CYP27C1 is the topic of the comic Sherman's lagoon for May 26, 2016.  In response to Hawthorne's inquiry about the chemical, Ernest explains that it is an enzyme that enhances ability to see infrared light, allowing fish to see better in murky waters.  Ernest can see however that Hawthorne is more interested in how to synthesize it commercially.
CYP2C18
Cytochrome P450 2C18 is a protein that in humans is encoded by the CYP2C18 gene.

# Function
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP4217 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19.
CYP2C18 also possesses epoxygenase activitiy: it can attack various long-chain polyunsaturated fatty acids at their double (i.e. alkene) bonds to form epoxide products that act as signaling agents. It metabolizes: 1) arachidonic acid to various epoxyeicosatrienoic acids (also termed EETs); 2) linoleic acid to 9,10-epoxy octadecaenoic acids (also termed vernolic acid, linoleic acid 9:10-oxide, or leukotoxin) and 12,13-epoxy-octadecaenoic (also termed coronaric acid, linoleic acid 12,13-oxide, or isoleukotoxin); 3) docosohexaenoic acid to various epoxydocosapentaenoic acids (also termed EDPs); and 4) eicosapentaenoic acid to various epoxyeicosatetraenoic acids (also termed EEQs).
While CYP2C19, CYP2C8, CYP2C9, CYP2J2, and possibly CYP2S1 are the main producers of EETs and, very likely EEQs, EDPs, and the epoxides of linoleic acid, CYP2C18 may contribute to the production of these metabolites in certain tissues.
CYP4A22
CYP4A22 (cytochrome P450, family 4, subfamily A, polypeptide 22) also known as fatty acid omega-hydroxylase is a protein which in humans is encoded by the CYP4A22 gene.
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 1p33.
CYP4A22 was once considered, along with CYP4A11, CYP4F2, and CYP4F3, as active in metabolizing arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE) by an omega oxidation reaction with the predominant 20-HETE-synthesizing enzymes in humans being CYP4F2 followed by CYP4A11; 20-HETE regulates blood flow, vascularization, blood pressure, and kidney tubule absorption of ions in rodents and possibly humans.  However, human CYP4A22 is expressed at very low levels in few tissues and may not be a functional enzyme in regard to the metabolism of arachidnoic acid to 20-HETE.
CYP4F11
CYP4F11 (cytochrome P450, family 4, subfamily F, polypeptide 11) is a protein that in humans is encoded by the CYP4F11 gene. This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene.

# Expression
CYP4F11 is expressed in liver, kidney, heart, brain, and skeletal muscle and is overexpressed in ovarian and colon cancers; perhaps relativant to its overexpression in ovarian cancer, its gene has an estrogen receptor  responsive site in its Promoter (genetics) site.

# Activities and possible functions
CYP4F11 is active in metabolism of many drugs including benzphetamine, ethylmorphine, chlorpromazine, imipramine, and erythromycin;.
The cytochrome is also able to hydroxylate short-chain and 3-hydroxylated medium chain fatty acidss by attaching a hydroxyl residue to their terminal carbon by omega oxidation in a reaction that may be critical to the processing of these fatty acids. It likewise omega-hydroxylates Vitamin Ks including menaquinone in a metabolic step which is essential for their further metabolism by beta oxidation and probably thereby their removal by catabolism to regulate their tissue levels.
CYP4F11 omega-hydroxylates leukotriene B4 (LTB4) to 20-hydroxy-LTB4, 5-Hydroxyicosatetraenoic acid (5-HETE) to 20-hydroxy-5-HETE (i.e. 5,20-diHETE), 12-hydroxyeicosatetraenoic acid (12-HETE) to 12,20-diHETE, lipoxins and possibly 5-oxo-eicosatetraenoic acid (5-oxo-ETE) to their 20-hydroxy metabolites; these reactions begin the inactivation of these pro- (LTB4, 5-HETE, 12-HETE, and 5-oxo-ETE) and anti- (lipoxins) cell signaling agents; however, it is relatively weak compared to, and therefore possibly not as physiologically relevant as, other CYP4Fs such as CYP4F2, CYP4F3a, CYP4F3b, CYP4A11 and CYP4F2  in doing so. The enzyme also hydroxylates arachidonic acid (i.e. eicosatetraenoic acid to 20-Hydroxyeicosatetraenoic acid) (20-HETE) although other cytochromes such as CYP4A11 and CYP4F2 appear more important in this metabolic conversion. 20-HETE is a short-lived potent signaling agent that functions to regulate blood flow, vascularization, blood pressure, and kidney tubule absorption of ions in rodents and possibly humans.  Gene polymorphism variants of CYP4A11 are associated with the development of hypertension and cerebral infarction (i.e. ischemic stroke) in humans (see 20-Hydroxyeicosatetraenoic acid).  In spite of its relative impotency and/or importance in accomplishing these omega-hydroxylations, CYP4F11 may contribute to them in certain tissues.

# Further reading
Johnson AL, Edson KZ, Totah RA, Rettie AE. Cytochrome P450 -Hydroxylases in Inflammation and Cancer. Adv. Pharmacol. 74:223-62, 2015.