The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. Only one of the isoforms appears to be a secreted protein. [prov... See more...

Aliases for APOL4 Gene

Aliases for APOL4 Gene

  • Apolipoprotein L4 2 3 4 5
  • Apolipoprotein L-IV 3 4
  • APOLIV 2 3
  • Apolipoprotein L, 4 3
  • APOL-IV 3
  • ApoL-IV 4
  • APOL4 5

External Ids for APOL4 Gene

Previous GeneCards Identifiers for APOL4 Gene

  • GC22M033228
  • GC22M034856
  • GC22M034909
  • GC22M036585
  • GC22M019554

Summaries for APOL4 Gene

Entrez Gene Summary for APOL4 Gene

  • The protein encoded by this gene is a member of the apolipoprotein L family and may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Two transcript variants encoding two different isoforms have been found for this gene. Only one of the isoforms appears to be a secreted protein. [provided by RefSeq, Jul 2008]

GeneCards Summary for APOL4 Gene

APOL4 (Apolipoprotein L4) is a Protein Coding gene. Diseases associated with APOL4 include Schizophrenia and Congenital Muscular Dystrophy-Dystroglycanopathy Type A6. Among its related pathways are Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF). Gene Ontology (GO) annotations related to this gene include lipid binding. An important paralog of this gene is APOL3.

UniProtKB/Swiss-Prot Summary for APOL4 Gene

  • May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOL4 Gene

Genomics for APOL4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APOL4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J036200 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 639.3 +2.0 1967 4.5 PRDM10 IKZF1 JUND DDX20 PHF21A HDAC1 SOX6 EP300 SCRT2 MGA APOL4 lnc-APOL2-1 RF00005-117 APOL3
GH22J036206 Enhancer 0.3 FANTOM5 627.2 -1.7 -1652 0.2 SPI1 APOL4 lnc-APOL2-1 APOL3 APOL2 APOL1 HSALNG0135211
GH22J036196 Enhancer 0.8 ENCODE CraniofacialAtlas 33.7 +7.1 7074 3.3 RFX1 REST ZNF341 BMI1 NR2C2 TCF12 ZBTB5 POLR2A ZNF335 CTCF APOL4 lnc-APOL2-1 RF00005-117 APOL3
GH22J036236 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.1 -33.8 -33770 3.7 GATAD2A CTCF TEAD4 PRDM10 ZNF629 REST TFE3 IKZF1 ZNF692 RCOR2 APOL2 lnc-APOL4-1-001 lnc-APOL4-1-002 APOL4 ENSG00000273176 HSALNG0135211 NONHSAG033827.2
GH22J036208 Enhancer 0.6 ENCODE 14.4 -4.5 -4485 1.6 TFE3 SOX13 TCF7 ZNF444 TRIM28 HNF4A RXRA ZNF664 KDM1A ZMYM3 APOL4 HSALNG0135211 APOL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOL4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOL4

Top Transcription factor binding sites by QIAGEN in the APOL4 gene promoter:
  • IRF-1
  • IRF-2
  • ISGF-3

Genomic Locations for APOL4 Gene

Genomic Locations for APOL4 Gene
chr22:36,189,124-36,204,840
(GRCh38/hg38)
Size:
15,717 bases
Orientation:
Minus strand
chr22:36,585,172-36,600,886
(GRCh37/hg19)
Size:
15,715 bases
Orientation:
Minus strand

Genomic View for APOL4 Gene

Genes around APOL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOL4 Gene

Proteins for APOL4 Gene

  • Protein details for APOL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BPW4-APOL4_HUMAN
    Recommended name:
    Apolipoprotein L4
    Protein Accession:
    Q9BPW4
    Secondary Accessions:
    • Q9BQ37
    • Q9BXQ8

    Protein attributes for APOL4 Gene

    Size:
    351 amino acids
    Molecular mass:
    39164 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for APOL4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APOL4 Gene

Post-translational modifications for APOL4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APOL4 Gene

Domains & Families for APOL4 Gene

Gene Families for APOL4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for APOL4 Gene

InterPro:
Blocks:
  • Apolipoprotein L
ProtoNet:

Suggested Antigen Peptide Sequences for APOL4 Gene

GenScript: Design optimal peptide antigens:
  • Apolipoprotein L-IV (APOL4_HUMAN)
  • Apolipoprotein L, 4 (B1AHI9_HUMAN)
  • cDNA FLJ78211, highly similar to Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant a, mRNA (Q6ICI8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BPW4

UniProtKB/Swiss-Prot:

APOL4_HUMAN :
  • Belongs to the apolipoprotein L family.
Family:
  • Belongs to the apolipoprotein L family.
genes like me logo Genes that share domains with APOL4: view

Function for APOL4 Gene

Molecular function for APOL4 Gene

UniProtKB/Swiss-Prot Function:
May play a role in lipid exchange and transport throughout the body. May participate in reverse cholesterol transport from peripheral cells to the liver (By similarity).

Phenotypes From GWAS Catalog for APOL4 Gene

Gene Ontology (GO) - Molecular Function for APOL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI --
GO:0008289 lipid binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with APOL4: view
genes like me logo Genes that share phenotypes with APOL4: view

Human Phenotype Ontology for APOL4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOL4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for APOL4 Gene

Localization for APOL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOL4 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOL4 gene
Compartment Confidence
extracellular 4
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
plasma membrane 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for APOL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space ISS 22261194
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with APOL4: view

Pathways & Interactions for APOL4 Gene

PathCards logo

SuperPathways for APOL4 Gene

SuperPathway Contained pathways
1 Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
-
genes like me logo Genes that share pathways with APOL4: view

Pathways by source for APOL4 Gene

1 GeneGo (Thomson Reuters) pathway for APOL4 Gene
  • Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)

Interacting Proteins for APOL4 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000338260 Q9BPW4-APOL4_HUMAN for APOL4 Gene via STRING IID

Gene Ontology (GO) - Biological Process for APOL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process NAS 11944986
GO:0006869 lipid transport IEA --
GO:0042157 lipoprotein metabolic process IEA --
genes like me logo Genes that share ontologies with APOL4: view

No data available for SIGNOR curated interactions for APOL4 Gene

Drugs & Compounds for APOL4 Gene

No Compound Related Data Available

Transcripts for APOL4 Gene

mRNA/cDNA for APOL4 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOL4

Alternative Splicing Database (ASD) splice patterns (SP) for APOL4 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b · 8c
SP1: -
SP2: - - -
SP3: - - - - - -
SP4: - - - -
SP5: - - -
SP6:

Relevant External Links for APOL4 Gene

GeneLoc Exon Structure for
APOL4

Expression for APOL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOL4 Gene

mRNA differential expression in normal tissues according to GTEx for APOL4 Gene

This gene is overexpressed in Pituitary (x5.1) and Adipose - Visceral (Omentum) (x4.2).

Protein differential expression in normal tissues from HIPED for APOL4 Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APOL4 Gene



Protein tissue co-expression partners for APOL4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOL4

SOURCE GeneReport for Unigene cluster for APOL4 Gene:

Hs.115099

mRNA Expression by UniProt/SwissProt for APOL4 Gene:

Q9BPW4-APOL4_HUMAN
Tissue specificity: Widely expressed; the highest levels are in spinal cord, placenta, adrenal gland; also detected in spleen, bone marrow, uterus, trachea, mammary gland and testis; levels are low in brain, heart and pancreas.

Evidence on tissue expression from TISSUES for APOL4 Gene

  • Pancreas(4.2)
genes like me logo Genes that share expression patterns with APOL4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for APOL4 Gene

Orthologs for APOL4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOL4 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia APOL3 31
  • 40 (a)
ManyToMany
-- 31
  • 38 (a)
ManyToMany
-- 31
  • 32 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 36 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Apol9b 31
  • 34 (a)
ManyToMany
Apol9a 31
  • 33 (a)
ManyToMany
Apol11a 31
  • 32 (a)
ManyToMany
Apol10b 31
  • 30 (a)
ManyToMany
Apol10a 31
  • 27 (a)
ManyToMany
Apol11b 31
  • 26 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 26 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 20 (a)
ManyToMany
-- 31
  • 20 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 42 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii APOL4 31
  • 11 (a)
OneToMany
Species where no ortholog for APOL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for APOL4 Gene

ENSEMBL:
Gene Tree for APOL4 (if available)
TreeFam:
Gene Tree for APOL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOL4: view image

Paralogs for APOL4 Gene

Paralogs for APOL4 Gene

(3) SIMAP similar genes for APOL4 Gene using alignment to 11 proteins:

  • APOL4_HUMAN
  • B1AHI7_HUMAN
  • B1AHI8_HUMAN
  • B1AHJ0_HUMAN
  • B1AHJ2_HUMAN
  • B1AHJ3_HUMAN
  • E9PS31_HUMAN
  • F5H1P9_HUMAN
  • J3KNR9_HUMAN
  • Q6ICI8_HUMAN
  • Q9BRG6_HUMAN
genes like me logo Genes that share paralogs with APOL4: view

Variants for APOL4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOL4 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs5845253 Likely Benign: not provided 36,191,797(-) A/ACT FRAMESHIFT_VARIANT
rs132700 - p.Met159Val
rs132736 - p.Ile9Val
rs2227168 - p.Arg223His
rs6000172 - p.Ser326Leu

Additional dbSNP identifiers (rs#s) for APOL4 Gene

Structural Variations from Database of Genomic Variants (DGV) for APOL4 Gene

Variant ID Type Subtype PubMed ID
esv3647680 CNV loss 21293372
esv7844 OTHER inversion 19470904
nsv1129335 OTHER inversion 24896259

Variation tolerance for APOL4 Gene

Gene Damage Index Score: 4.19; 61.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOL4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOL4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOL4 Gene

Disorders for APOL4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for APOL4 Gene - From: OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
schizophrenia
  • sczd
congenital muscular dystrophy-dystroglycanopathy type a6
  • mddga6
myasthenic syndrome, congenital, 14
  • cms14
phencyclidine abuse
  • pcp abuse
walker-warburg syndrome
  • hydrocephalus, agyria, and retinal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search APOL4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for APOL4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with APOL4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOL4 Gene

Publications for APOL4 Gene

  1. The human apolipoprotein L gene cluster: identification, classification, and sites of distribution. (PMID: 11374903) Page NM … Lowry PJ (Genomics 2001) 2 3 4
  2. Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene. (PMID: 11290834) Duchateau PN … Kane JP (Journal of lipid research 2001) 3 4 23
  3. Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia. (PMID: 18632255) Takahashi S … Tsuang MT (Schizophrenia research 2008) 3 41
  4. Investigation of the apolipoprotein-L (APOL) gene family and schizophrenia using a novel DNA pooling strategy for public database SNPs. (PMID: 15949655) McGhee KA … Corvin A (Schizophrenia research 2005) 3 41
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for APOL4 Gene

Sources for APOL4 Gene