Persius/hicric huggingface dataset:
CC2D2A
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene.

# Function
This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation.

# Clinical significance
Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome.
CCDC22
Coiled-coil domain containing 22 is a protein that in humans is encoded by the CCDC22 gene.

# Function
This gene encodes a protein containing a coiled-coil domain. The encoded protein functions in the regulation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells) by interacting with COMMD (copper metabolism Murr1 domain-containing) proteins. The mouse orthologous protein has been shown to bind copines, which are calcium-dependent, membrane-binding proteins that may function in calcium signaling. This human gene has been identified as a novel candidate gene for syndromic X-linked intellectual disability.

# Clinical significance
Mutations in CCDC22 are associated to                 Ritscher-Schinzel syndrome            .
CCDC57
Coiled-coil domain-containing protein 57 is a protein that in humans is encoded by the CCDC57 gene.

# Model organisms
Model organisms have been used in the study of CCDC57 function. A conditional knockout mouse line, called Ccdc57tm1a(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 six tests were carried out on mutant mice and two significant abnormalities were observed. The animals displayed hydrocephaly and had abnormal hypodermis fat layer morphology.
CCDC82
Coiled-Coil Domain Containing protein 82 (CCDC82) is a protein that in humans, is encoded for by the gene of the same name, CCDC82. The CCDC82 gene is expressed in nearly all of human tissues at somewhat low rates. As of today, there are no patents involving CCDC82 and the function remains unknown.

# Gene
CCDC82 is located on chromosome 11 at 11q21.5. 
It contains two domains of unknown function, DUF4196 and DUF4211.  The DNA sequence is 37,155 base pairs long  and contains 7 exons.

## Homology
CCDC82 is present in many orthologs. It is conserved throughout other mammals, reptiles, birds and bony fish. It is not found in invertebrates, bacteria or fungi. There are no paralogs.

# mRNA

## Promoter
The predicted promoter for CCDC82 is located on the minus strand and spans from base pairs 96,122,963 to 96,123,587. It is 625 base pairs long.

## Transcription factors
The transcription factors listed below are for the predicted promoter sequence and are located on the minus strand.

# Protein
The protein it encodes for is 344 amino acids in length. The protein itself is very acidic and is very rich in aspartic acid and glutamic acid. It is also very deficient in alanine, containing only two alanines in the entire sequence. The alanines are located adjacent to each other, amino acid number 233 and 234. Alanine 233 is highly conserved throughout the orthologs. The molecular weight is 40.0 kdal and the isoelectric point is 4.383

## Expression
CCDC82 is found in nearly all tissues in the human body, however it is present in higher quantities in the skeletal muscles, adrenal cortex, and the trigeminal ganglion.

## Post translational modifications
CCDC82 has several predicted phosphorylation sites.  There are 32 predicted serine phosphorylation sites, 5 threonine, and 3 tyrosine.

## Interactions
CCDC82 is known to interact with two proteins. It indirectly interacts with VHL, a gene that encodes for a tumor suppressor and ubiquitin protein ligase. It also interacts with EWSR1, which functions as a transcriptional repressor.

# Clinical significance
CCDC82 is a circulat-responsive gene. Circulat is a product designed to restore systemic vascular health. It is a plant based product and taken by patients who suffer from diabetes or circulatory problems.

## Possible function
Based on the information that CCDC82 is affected by the Circulat product it could be hypothesized that CCDC82 is involved in circulatory function. However, this is purely speculation.
CCHCR1
Coiled-coil alpha-helical rod protein 1, also known as CCHCR1, is a protein which in humans is encoded by the CCHCR1 gene.

# Gene
The Human CCHCR1 gene is located at 6p21.33. It is also known as Coiled-Coil Alphahelical Rod Protein 1, C6orf18, Putative Gene 8 Protein, SBP, HCR (A-Helix Coiled-Coil Rod Homologue), pg8, StAR-Binding Protein, and Pg8.

# Homology
Homologes for CCHCR1 are conserved through tetrapods.

## Paralogs

## Orthologs
CCHCR1 has orthologs throughout vertebrates.

## Distant Homologs

## Homologous Domains

## Phylogeny
Phylogenetic analysis with ClustalW indicated that CCHCR1
The CCHCR1 gene has

# Protein

## Structure
The structure of CCHCR1 is primarily composed of alpha-helices, coils, and a small amount of beta sheets, according to PELE.

# Expression

# Function
May be a regulator of keratinocyte proliferation or differentiation.

# Interacting Proteins
CCHCR1 has been shown to interact with POLR2C, 
KRT17
, TOP3B, Steroidogenic acute regulatory protein, TRAF4, HLA-C, TCF19, SNX29, EEF1D, and EEF1B2.

# Clinical significance
In genetically engineered mice, certain CCHCR1 polymorphisms cause upregulation of the expression of cytokeratins 6 (KRT6A), 16 (KRT16) and 17 (KRT17) and change in expression in other genes associated with terminal differentiation and formation of the cornified cell envelope.  These CCHCR1 polymorphisms may therefore be associated with a susceptibility to psoriasis. Defective functioning of CCHCR1 may lead to abnormal keratinocyte proliferation which is a key feature of psoriasis.
CCHCR1 polymorphisms have also been found to be associated with multiple sclerosis.
CCL3L1
Chemokine (C-C motif) ligand 3-like 1, also known as CCL3L1, is a protein which in humans is encoded by the CCL3L1 gene.

# Function
This gene is one of several chemokine genes clustered on the q-arm of chromosome 17.  Chemokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. Specifically, chemokines attract lymphocytes to sites of infection or damage.  This protein binds to several chemokine receptors including chemokine binding protein 2 (CCBP2 or D6) and chemokine (C-C motif) receptor 5 (CCR5).
CCR5 is a co-receptor for HIV, and binding of CCL3L1 to CCR5 inhibits HIV entry. Furthermore, the binding causes the receptor to be taken inside the cell by endocytosis, to eventually be reprocessed and re-expressed.

# Gene organization
The human genome reference assembly contains two full copies of the gene (CCL3L1 and CCL3L3) and an additional partial duplication, which is thought to result in a pseudogene, designated CCL3L2. This record represents the more telomeric full-length gene.

# Clinical significance
The copy number of this gene varies among individuals. This is hypothesized to be due to segmental duplication of the region containing CCL3. Most individuals have 1-6 copies in the diploid genome, although rare individuals have zero or more than six copies. With increased copy number, there is more CCL3L1 expressed, and so competition for the CCR5 binding site is increased. This leads to slower advancement of disease in HIV-infected individuals, giving those with greater copy number more resistance.

# Interactions
CCL3L1 has been shown to interact with CCR5.
VCAM-1
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Vascular cell adhesion protein 1 also known as vascular cell adhesion molecule 1 (VCAM-1) or cluster of differentiation 106 (CD106) is a protein that in humans is encoded by the VCAM1 gene. VCAM-1 functions as a cell adhesion molecule.

# Structure
The VCAM-1 gene contains six or seven immunoglobulin domains, and is expressed on both large and small blood vessels only after the endothelial cells are stimulated by cytokines. It is alternatively spliced into two known RNA transcripts that encode different isoforms in humans. The gene product is a cell surface sialoglycoprotein, a type I membrane protein that is a member of the Ig superfamily.

# Function
The VCAM-1 protein mediates the adhesion of lymphocytes, monocytes, eosinophils, and basophils to vascular endothelium. It also functions in leukocyte-endothelial cell signal transduction, and it may play a role in the development of atherosclerosis and rheumatoid arthritis.
Upregulation of VCAM-1 in endothelial cells by cytokines occurs as a result of increased gene transcription (e.g., in response to Tumor necrosis factor-alpha (TNF-) and Interleukin-1 (IL-1)) and through stabilization of Messenger RNA (mRNA) (e.g., Interleukin-4 (IL-4)). The promoter region of the VCAM-1 gene contains functional tandem NF-B (nuclear factor-kappa B) sites. The sustained expression of VCAM-1 lasts over 24 hours.
Primarily, the VCAM-1 protein is an endothelial ligand for VLA-4 (Very Late Antigen-4 or integrin 41) of the 1 subfamily of integrins. VCAM-1 expression has also been observed in other cell types (e.g., smooth muscle cells). It has also been shown to interact with EZR and Moesin.
CD106 also exists on the surface of some subpopulations of mesenchymal stem cells(MSC).

# Pharmacology
Certain melanoma cells can use VCAM-1 to adhere to the endothelium, and VCAM-1 may participate in monocyte recruitment to atherosclerotic sites. As a result, VCAM-1 is a potential drug target.
CDC14B
Dual specificity protein phosphatase CDC14B is an enzyme that in humans is encoded by the CDC14B gene.
The protein encoded by this gene is a member of the dual specificity protein tyrosine phosphatase family. This protein is highly similar to Saccharomyces cerevisiae Cdc14, a protein tyrosine phosphatase involved in the exit of cell mitosis and initiation of DNA replication, which suggests the role in cell cycle control. Specifically, it is thought to fulfil this role by bundling and stabilising microtubules. This protein has been shown to interact with and dephosphorylates tumor suppressor protein p53, and is thought to regulate the function of p53. Alternative splicing of this gene results in 3 transcript variants encoding distinct isoforms.

# Interactions
CDC14B has been shown to interact with p53. However, this interaction has not been reported in other studies.
CDC25A
M-phase inducer phosphatase 1 also known as dual specificity phosphatase Cdc25A is a protein that in humans is encoded by the cell division cycle 25 homolog A (CDC25A) gene.

# Function
CDC25A is a member of the CDC25 family of dual-specificity phosphatases.
Dual-specificity protein phosphatases remove phosphate groups from phosphorylated tyrosine and serine / threonine residues. They represent a subgroup of the tyrosine phosphatase family (as opposed to the serine/threonine phosphatase family).
All mammals examined to date have three homologues of the ancestral Cdc25 gene (found e.g. in the fungus species S. pombe , designated Cdc25A, Cdc25B, and Cdc25C. In contrast, some invertebrates harbour 2 (e.g., the Drosophila proteins String and Twine) or four (e.g., C. elegans Cdc-25.1 - Cdc-25.4) homologues.   
CDC25A is required for progression from G1 to the S phase of the cell cycle, but also plays roles in later cell cycle events.  In particular, it is stabilized in metaphase cells and is degraded upon metaphase exit akin to Cyclin B.  It is competent to activate the G1/S cyclin-dependent kinases CDK4 and CDK2 by removing inhibitory phosphate groups from adjacent tyrosine and threonine residues; it can also activate Cdc2 (Cdk1), the principal mitotic Cdk.

# Involvement in cancer
CDC25A is specifically degraded in response to DNA damage, resulting in cell cycle arrest. Thus, this degradation represents one axis of a DNA damage checkpoint, complementing induction of p53 and p21 in the inhibition of CDKs. 
CDC25A is considered an oncogene, as it can cooperate with oncogenic RAS to transform rodent fibroblasts, and it is overexpressed in tumours from a variety of tissues, including breast and head & neck tumours.  It is a target of the E2F family of transcription factors. Therefore, its overexpression is a common consequence of dysregulation of the p53-p21-Cdk axis in carcinogenesis.

# Interactions
CDC25A has been shown to interact with:
- ASK1,
- C-Raf,
- CHEK1,
- CCNE1,
- EGFR,
- PIM1  and
- YWHAB.
CDC25B
M-phase inducer phosphatase 2 is an enzyme that in humans is encoded by the CDC25B gene.
CDC25B is a member of the CDC25 family of phosphatases. CDC25B activates the cyclin dependent kinase CDC2 by removing two phosphate groups and it is required for entry into mitosis. CDC25B shuttles between the nucleus and the cytoplasm due to nuclear localization and nuclear export signals. The protein is nuclear in the M and G1 phases of the cell cycle and moves to the cytoplasm during S and G2. CDC25B has oncogenic properties, although its role in tumor formation has not been determined. Multiple transcript variants for this gene exist.

# Interactions
CDC25B has been shown to interact with MAPK14, Casein kinase 2, alpha 1, CHEK1, MELK, Estrogen receptor alpha, YWHAB, YWHAZ, YWHAH and YWHAE.
CDC25C
M-phase inducer phosphatase 3 is an enzyme that in humans is encoded by the CDC25C gene.
This gene is highly conserved during evolution and it plays a key role in the regulation of cell division. The encoded protein is a tyrosine phosphatase and belongs to the Cdc25 phosphatase family. It directs dephosphorylation of cyclin B-bound CDC2 (CDK1) and triggers entry into mitosis. It is also thought to suppress p53-induced growth arrest. Multiple alternatively spliced transcript variants of this gene have been described, however, the full-length nature of many of them is not known.

# Interactions
CDC25C has been shown to interact with MAPK14, CHEK1, PCNA, PIN1, PLK3 and NEDD4.
CDC2L5
Cell division cycle 2-like protein kinase 5 is an enzyme that in humans is encoded by the CDC2L5 gene.
The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. Some of the cell cycle control kinases are able to phosphorylate proteins that are important for cell differentiation and apoptosis, thus provide connections between cell proliferation, differentiation, and apoptosis. Proteins of this family may also be involved in non-cell cycle-related functions, such as neurocytoskeleton dynamics. The exact function of this protein has not yet been determined. It has unusually large N- and C-termini and is ubiquitously expressed in many tissues. Two alternatively spliced variants are described.
A 2017 study of children with rare developmental disorders found 11 children in the United Kingdom who had a fault in their CDK13 gene.  This fault affected the children's communication and language skills as well as causing learning difficulties.
CDK5R1
Cyclin-dependent kinase 5 activator 1 is an enzyme that in humans is encoded by the CDK5R1 gene.

# Function
The protein encoded by this gene (p35) is a neuron-specific activator of cyclin-dependent kinase 5 (CDK5); the activation of CDK5 is required for proper development of the central nervous system. The p35 form of this protein is proteolytically cleaved by calpain, generating a p25 form. The cleavage of p35 into p25 results in relocalization of the protein from the cell periphery to nuclear and perinuclear regions. P25 deregulates CDK5 activity by prolonging its activation and changing its cellular location. The p25 form accumulates in the brain neurons of patients with Alzheimer's disease. This accumulation correlates with an increase in CDK5 kinase activity, and may lead to aberrantly phosphorylated forms of the microtubule-associated protein tau, which contributes to Alzheimer's disease.
In melanocytic cells CDK5R1 gene expression may be regulated by MITF.

# Interactions
CDK5R1 has been shown to interact with:
- Actinin, alpha 1
- Amphiphysin,
- Beta-catenin,
- CAMK2A,
- CDK5RAP2,
- Cyclin-dependent kinase 5,
- Protein SET,
CDKN2C
Cyclin-dependent kinase 4 inhibitor C is an enzyme that in humans is encoded by the CDKN2C gene.

# Function
The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported.

# Interactions
CDKN2C has been shown to interact with Cyclin-dependent kinase 4 and Cyclin-dependent kinase 6.
CDKN2D
Cyclin-dependent kinase 4 inhibitor D is an enzyme that in humans is encoded by the CDKN2D gene.
The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to form a stable complex with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. The abundance of the transcript of this gene was found to oscillate in a cell-cycle dependent manner with the lowest expression at mid G1 and a maximal expression during S phase. The negative regulation of the cell cycle involved in this protein was shown to participate in repressing neuronal proliferation, as well as spermatogenesis. Two alternatively spliced variants of this gene, which encode an identical protein, have been reported.
Note, this protein should not be confused with p19-ARF (mouse) or the human equivalent p14ARF, which are alternative products of the CDKN2A gene.
CDP323
CDP323 is a small-molecule prodrug antagonist of the vascular cell adhesion molecule 1 (VCAM-1) binding to 4-integrins. It was originally developed by the British biopharmaceutical company Celltech plc. (now UCB S.A.) and is a putative new drug for oral treatment of multiple sclerosis.
In October 2006, UCB S.A. and Biogen Idec announced a collaboration to jointly develop and commercialize CDP323 for the treatment of multiple sclerosis and other potential indications.

# Mechanism of Action
The mechanism of action of CDP323 is believed to rely on preventing immune cells to migrate from blood vessels through the vessel walls to reach various inflamed tissues, including the brain. This mechanism is thought to prevent overshooting immune reactions and subsequent tissue damage as seen during uncontrolled immune cell migration as in multiple sclerosis. CDP323 has the same mechanism of action as the monoclonal antibody natalizumab.

# Results in Animal Models
CDP323 was investigated in chronic experimental autoimmune encephalomyelitis (EAE) in mice. The drug was effective when given prophylactically (i.e., before the disease was induced in mice) and when given therapeutically (i.e., after outbreak of the disease) and reduced the disease severity significantly.

# Clinical Development
The safety, tolerability, and  pharmacokinetic profile of CDP323 have been evaluated in 75 female and male healthy volunteers in three separate Phase 1 studies. CDP323 was well tolerated at oral doses up to 1000 mg given twice daily for 7 consecutive days with an adverse event profile comparable to that observed with placebo. There was no gender effect. The oral administration resulted in inhibition of VCAM-1 binding which could be maintained throughout a 12 or 24 hour dose interval at well tolerated doses
A Phase 2 study commenced in June 2007 in Europe and in the US. The study intends to enroll over 200 patients with relapsing MS who have failed earlier treatment with an interferon-beta and will compare two doses of the drug to placebo over a period of six months. The results are expected by the end of 2008.,
CELA3B
Chymotrypsin-like elastase family member 3B also known as elastase-3B, protease E, or fecal elastase is an enzyme that in humans is encoded by the CELA3B gene.
Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B (this protein).

# Function
Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays.

# Clinical significance
Fecal elastase is a medical test that measures how well the pancreas is functioning.
The fecal elastase test measures the concentration of the elastase-3B enzyme found in fecal matter with an enzyme-linked immunosorbent assay (ELISA). Results of this test can give a good indication of exocrine pancreatic status, and the test is less invasive and expensive than the current "gold standard", secretin-cholecystokinin test. Levels of fecal elastase lower than 200 g / g of stool indicate an exocrine insufficiency. Correlations between low levels and chronic pancreatitis and cancer have been reported.
CENTG2
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 1 is an enzyme that in humans is encoded by the AGAP1 gene.

# Function
CENTG2 belongs to an ADP-ribosylation factor GTPase-activating (ARF-GAP) protein family involved in membrane traffic and actin cytoskeleton dynamics (Nie et al., 2002).

# HACNS1
HACNS1 is located in an intron of the gene CENTG2 (also known as Human Accelerated Region 2).  HACNS1 is hypothesized to be a gene enhancer "that may have contributed to the evolution of the uniquely opposable human thumb, and possibly also modifications in the ankle or foot that allow humans to walk on two legs". Evidence to date shows that of the 110,000 gene enhancer sequences identified in the human genome, HACNS1 has undergone the most change during the evolution of humans following the split with the ancestors of chimpanzees.

# Model organisms
Model organisms have been used in the study of AGAP1 function. A conditional knockout mouse line called Agap1tm1a(EUCOMM)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 - in-depth bone and cartilage phenotyping