Persius/hicric huggingface dataset:
APOA4
Apolipoprotein A-IV (also known as apoA-IV, apoAIV, or apoA4) is plasma protein that is the product of the human gene APOA4.

# Gene
APOA4 resides on chromosome 11 in close linkage to APOA1 and APOC3. APOA4 contains 3 exons separated by two introns, and is polymorphic, although most of the reported sequence polymorphisms occur in exon 3. The best validated and studied non-synonymous SNPs are a glutamine  histidine substitution at codon 360 and a threonine  serine substitution at codon 347; a sequence polymorphism has also been identified in the 3'UTR of the third exon. Intra-species comparative gene sequence analysis suggests that the APOA4 gene arose from APOA1 by gene duplication approximately 270 MYA.

# Function
The primary translation product of the APOA4 gene is a 396-residue preprotein, which undergoes proteolytic processing to yield apo A-IV, a 376-residue mature O-linked glycoprotein. In most mammals, including humans, apo A-IV synthesis is confined to the intestine; however in mice and rats hepatic synthesis also occurs. Apo A-IV is secreted into circulation on the surface of newly synthesized chylomicron particles. Intestinal fat absorption dramatically increases the synthesis and secretion of apo A-IV. Although its primary function in human lipid metabolism has not been established, apo A-IV has been found to:
- activate lecithin-cholesterol acyltransferase and cholesterylester transfer protein in vitro;
- play a role in the regulation of appetite and satiety in rodent models;
- display anti-oxidant and anti-atherogenic properties in vitro and in rodent models;
- modulate the efficiency of enterocyte and hepatic transcellular lipid transport in vitro.
Human apo A-IV deficiency has not been reported.

# Interactions
APOA4 has been shown to interact with GPLD1.

# Interactive pathway map
Click on genes, proteins and metabolites below to link to respective articles. 
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APOL2
Apolipoprotein L2 is a protein that in humans is encoded by the APOL2 gene.
This gene is a member of the apolipoprotein L gene family and protein in this family are lipid-binding proteins. This gene encodes a 37.1 kDa protein and The protein sequence contains 337bp.  Localization of this protein is mainly found in the cytosol, nucleoplasm and additionally, it is also seen in the Nuclear bodies.  The involvement of this gene may affect in the movement of lipids and binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene.

# Protein Sequence
sp|Q9BQE5|1-337
MNPESSIFIEDYLKYFQDQVSRENLLQLLTDDEAWNGFVAAAELPRDEADELRKALNKLA
SHMVMKDKNRHDKDQQHRQWFLKEFPRLKRELEDHIRKLRALAEEVEQVHRGTTIANVVS
NSVGTTSGILTLLGLGLAPFTEGISFVLLDTGMGLGAAAAVAGITCSVVELVNKLRARAQ
ARNLDQSGTNVAKVMKEFVGGNTPNVLTLVDNWYQVTQGIGRNIRAIRRARANPQLGAYA
PPPHIIGRISAEGGEQVERVVEGPAQAMSRGTMIVGAATGGILLLLDVVSLAYESKHLLE
GAKSESAEELKKRAQELEGKLNFLTKIHEMLQPGQDQ

# Interactions
APOL2 has been shown to interact with:
- IFN-,
- CD81,
- TNF-,
- Bcl-2,

# Splice Variants
ApoL2 has 5 splice variants, ,
- APOL2-001
This transcript has got 6 exons, 12 domains and features are annotated, 263 variations are related this and maps to 35 oligo probes.
- APOL2-002
This transcript has got 5 exons,  12 domains and features are annotated, 263 variations are related with this gene and maps to 37 oligo probes.
- APOL2-006
This transcript has got 6 exons, is annotated with 3 domains and features, 62 variations are related with this gene and maps to 20 oligo probes.
- APOL2-008
This transcript has got 6 exons, 12 domains and features are annotated, 331 variations are related with this gene and maps to 32 oligo probes.
- APOL2-009
This transcript has got 5 exons, 4 domains and features are annotated, 104 variations are related with this gene and maps to 13 oligo probes.

# Functions of the ApoL2
- Acute Inflammation Response 
- Cholesterol Metabolic Process
- Lipid Metabolic Process
- Maternal Process Involved in Female Pregnancy
- Lipid binding
- Signalling Receptor Binding
APPL1
Adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1 (APPL1), or DCC-interacting protein 13-alpha (DIP13alpha), is a protein that in humans is encoded by the APPL1 gene. APPL1 contains several key interactory domains: pleckstrin homology (PH) domain, phosphotyrosine-binding (PTB) domain and BinAmphiphysinRvs (BAR) domain.

# Function
APPL1 is an adaptor protein localized to a subset of Rab5-positive ("early") endosomes, where it recruits other binding partners and regulates vesicle trafficking and endosomal signalling. APPL1 is enriched at very early endosomes which are negative for EEA1, indicating that APPL1 affects the earliest stages of endosomal traffic before EEA1 takes over. This is in line with observations that APPL1 and EEA1 compete for Rab5 binding. APPL1 affects the speed of internalization of key endosomal cargo (eg. EGF receptor) which is dependent on Rab5 activation.
PTB domain of APPL1 regulates many cell signalling events in specific endosomal compartments - sometimes termed the "signalling endosomes". This includes lysophosphatidic acid (LPA)-induced signaling (together with interacting protein GIPC1). Additional roles for APPL1 were pinpointed to the nucleus where APPL1 can localize once dissociated from endosomes.

# Mutant studies

# Interactions
APPL1 has been shown to interact with Deleted in Colorectal Cancer, AKT2, but also Rab5, Rab21, OCRL and almost 30 other proteins.
APPL2
DCC-interacting protein 13-beta is a protein that in humans is encoded by the APPL2 gene.

# Model organisms
Model organisms have been used in the study of APPL2 function. A conditional knockout mouse line, called Appl2tm1a(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  at the Wellcome Trust Sanger Institute.
Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty three tests were carried out on mutant mice, but no significant abnormalities were observed.
ARID2
AT-rich interactive domain-containing protein 2 (ARID2) is a protein that in humans is encoded by the ARID2 gene.

# Function
ARID2 is a subunit of the PBAF chromatin-remodeling complex, which facilitates ligand-dependent transcriptional 
activation by nuclear receptors.

# Structure
The ARID2 protein contains two conserved C-terminal C2H2 zinc fingers motifs, a region rich in the amino acid residues proline and glutamine, a RFX (regulatory factor X)-type winged-helix DNA-binding domain, and a conserved N-terminal AT-rich DNA interaction domainthe last domain for which the protein is named.

# Clinical significance
Mutation studies have revealed ARID2 to be a significant tumor suppressor in many cancer subtypes. ARID2 mutations are prevalent in hepatocellular carcinoma and melanoma. Mutations are present in a smaller but significant fraction in a wide range of other tumors. ARID2 mutations are enriched in hepatitis C virus-associated hepatocellular carcinoma in the US and European patient populations compared with the overall mutation frequency.

# Model organisms
The ARID2 gene, located on chromosome 12q in humans, consists of 21 exons; orthologs are known from mouse, rat, cattle, chicken, and mosquito. Model organisms have been used in the study of ARID2 function. A conditional knockout mouse line, called Arid2tm1a(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 adult mice and two significant abnormalities were observed.  A recessive lethal study found fewer homozygous mutant embryos during gestation than predicted by Mendelian ratio. In a second study, no homozygous mutant animals survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; these displayed no abnormalities.
ARL4D
ADP-ribosylation factor-like protein 4D is a protein that in humans is encoded by the ARL4D gene.

# Function
ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with BardetBiedl syndrome (BBS).

# Model organisms
Model organisms have been used in the study of ARL4D function. A conditional knockout mouse line, called Arl4dtm1a(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 five tests were carried out on mutant mice and significant abnormalities were observed. Homozygous mutant females had decreased bone mineral content, heart weight, lean body mass and CD8-positive, alpha-beta memory T cell number. Males had abnormal rib morphology with vertebral transformation. Both sexes displayed a reduction in dorsal third ventricle area and hippocampal area.
ARMC6
The human gene ARMC6 encodes a protein called Armadillo repeat-containing protein 6.
The function of this gene's protein product has not been determined. A related protein in mouse suggests that this protein has a conserved function.
The protein is characterized by the presence of armadillo repeats in its amino acid sequence. Diseases associated with ARMC6 include pancreatic cancer, and pancreatitis.
ARPC4
Actin-related protein 2/3 complex subunit 4 is a protein that in humans is encoded by the ARPC4 gene.

# Function
This gene encodes one of seven subunits of the human Arp2/3 protein complex. The Arp2/3 protein complex has been implicated in the control of actin polymerization in cells and has been conserved through evolution. The exact role of the protein encoded by this gene, the p20 subunit, has yet to be determined. Three transcript variants encoding two distinct isoforms have been found for this gene.

# Model organisms
Model organisms have been used in the study of ARPC4 function. A conditional knockout mouse line, called Arpc4tm1a(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.  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; no additional significant abnormalities were observed in these animals.

# Interactions
ARPC4 has been shown to interact with ARPC5.
ARVD1
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 1;

# Overview

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
There is an autosomal dominant pattern of inheritance.  This variant is due to a heterozygous mutation in the TGFB3 gene (190230) on chromosome 14q24.

# Epidemiology and Demographics
The incidence of ARVD is about 1/10,000 in the general population in the United States, although some studies have suggested that it may be as common as 1/1,000.  It accounts for up to 17% of all sudden cardiac deaths in the young.  In Italy, the incidence is 40/10,000, making it the most common cause of sudden cardiac death in the young population.  It is more common in Northern Italy.

## Gender
The male to female ratio is 3:1.

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ARVD2
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 2; arrhythmogenic right ventricular cardiomyopathy 2;  ARVC2

# Overview
Arrhythmogenic right ventricular dysplasia type 2 is a "concealed form" of ARVD. There is no change in heart size. There are no EKG changes on the resting electrocardiogram, but there may be exercise induced polymorphic ventricular tachycardia  This variant is associated with premature death.

# Pathophysiology
Although the heart is normal in size, on pathologic examination, there are large areas of fibro-fatty replacement in the subepicardial layer of the right ventricle.
There are also abnormalities in calcium hemostasis in the myocytes which may contribute to the occurrence of ventricular arrhythmias.

## Genetics
This variant (600996) is associated with a mutation in the RYR2 gene (180902) on chromosome 1q42-q43.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis
This ARVD variant is associated with premature death.

# Diagnosis

## Symptoms
Exercise induced polymorphic VT may be present.

## Electrocardiogram
There are no EKG changes on the resting electrocardiogram, but there may be exercise induced polymorphic ventricular tachycardia.
ARVD3
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 3; arrhythmogenic right ventricular cardiomyopathy 3;  ARVC3

# Overview

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
This variant (602086) is associated with a mutation in the chromosome 14q12-q22 region.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ARVD4
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 4; arrhythmogenic right ventricular cardiomyopathy 4;  ARVC4

# Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.  It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.  This variant of ARVD is somewhat unusual as some family members were found to have involvement of the left ventricle and left bundle branch block.

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias. This variant of ARVD is somewhat unusual as some family members were found to have involvement of the left ventricle and left bundle branch block.

## Genetics
This variant (602087) is associated with a mutation in the chromosome 2q32.1-q32.3 region.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram
This variant of ARVD is somewhat unusual as some family members were found to have involvement of the left ventricle and left bundle branch block.

## Echocardiogram

## MRI
ARVD5
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 5; arrhythmogenic right ventricular cardiomyopathy 5;  ARVC5

# Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.  It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
This variant (604400) is associated with a mutation in the TMEM43 gene (612048) on chromosome 3p23 region.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ARVD6
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 6; arrhythmogenic right ventricular cardiomyopathy 6;  ARVC6

# Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.  It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
This variant (604401), is associated with a mutation in the chromosome 10p14-p12 region.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ARVD7
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 7; arrhythmogenic right ventricular cardiomyopathy 7;  ARVC7

# Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.  It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
This variant (609160) is associated with a mutation in the chromosome 10q22.3 region.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ARVD8
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 8; arrhythmogenic right ventricular cardiomyopathy 8;  ARVC8

# Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.  It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
This variant (607450) is associated with a mutation in the DSP gene (125647) on chromosome 6p24.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ARVD9
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 9; arrhythmogenic right ventricular cardiomyopathy 9;  ARVC9

# Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle.  It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

# Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.

## Genetics
This variant (609040) is associated with a mutation in the PKP2 gene (602861) on chromosome 12p11.

# Epidemiology and Demographics

# Natural History, Complications, Prognosis

# Diagnosis

## Symptoms

## Electrocardiogram

## Echocardiogram

## MRI
ASF1A
Histone chaperone ASF1A is a protein that in humans is encoded by the ASF1A gene.

# Function
This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The protein is a key component of a histone donor complex that functions in nucleosome assembly. It interacts with histones H3 and H4, and functions together with a chromatin assembly factor during DNA replication and repair.

# Interactions
ASF1A has been shown to interact with TLK1, TLK2, CHAF1B and CHAF1A.
ASF1B
Histone chaperone ASF1B is a protein that in humans is encoded by the ASF1B gene.

# Function
This gene encodes a member of the H3/H4 family of histone chaperone proteins and is similar to the anti-silencing function-1 gene in yeast. The encoded protein is the substrate of the tousled-like kinase family of cell cycle-regulated kinases, and may play a key role in modulating the nucleosome structure of chromatin by ensuring a constant supply of histones at sites of nucleosome assembly.

# Interactions
ASF1B has been shown to interact with TLK2, CHAF1B, TLK1 and CHAF1A.
ASIC1
Acid-sensing ion channel 1 (ASIC1) also known as amiloride-sensitive cation channel 2, neuronal (ACCN2) or brain sodium channel 2 (BNaC2) is a protein that in humans is encoded by the ASIC1 gene.  The ASIC1 gene is one of the five paralogous genes that encode proteins that form trimeric acid-sensing ion channels (ASICs) in mammals. The cDNA of this gene was first cloned in 1996. The ASIC genes have splicing variants that encode different proteins that are called isoforms.
These genes are mainly expressed in the central and peripheral nervous system.
ASICs can form both homotrimeric (meaning composed of three identical subunits) and heterotrimeric channels.

# Structure and function
This gene encodes a member of the ASIC/ENaC superfamily of proteins. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane (TM) regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The TM regions are generally symbolized as TM1 (clone to N-terminus) and TM2 (close to C-terminus).
The pore of the channel through which ions selectively flow from the extracellular side into the cytoplasm is formed by the three TM2 regions of the trimer.

# Interactions
ASIC1 has been shown to interact with PICK1.