APOL2 apolipoprotein L2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: APOL2provided by HGNC
Official Full Name: apolipoprotein L2provided by HGNC
Primary source: HGNC:HGNC:619
See related: Ensembl:ENSG00000128335 MIM:607252; AllianceGenome:HGNC:619
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: APOL3; APOL-II
Summary: This gene is a member of the apolipoprotein L gene family. The encoded protein is found in the cytoplasm, where it may affect the movement of lipids or allow the binding of lipids to organelles. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in appendix (RPKM 11.5), spleen (RPKM 10.5) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 22q12.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (36226209..36239954, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (36686335..36700070, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (36622255..36636000, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structures of the ApoL1 and ApoL2 N-terminal domains reveal a non-classical four-helix bundle motif.
Title: Structures of the ApoL1 and ApoL2 N-terminal domains reveal a non-classical four-helix bundle motif.
Epigenetic aging is accelerated in alcohol use disorder and regulated by genetic variation in APOL2.
Title: Epigenetic aging is accelerated in alcohol use disorder and regulated by genetic variation in APOL2.
Apolipoprotein L2 contains a BH3-like domain but it does not behave as a BH3-only protein.
Title: Apolipoprotein L2 contains a BH3-like domain but it does not behave as a BH3-only protein.
Results reveal a novel function for ApoL2 in conferring anti-apoptotic ability of human bronchial epithelium to the cytotoxic effects of IFN-gamma, in maintaining airway epithelial layer integrity.
Title: A novel anti-apoptotic role for apolipoprotein L2 in IFN-γ-induced cytotoxicity in human bronchial epithelial cells.
An association of APOL1, 2 and 4 with schizophrenia was establised.
Title: Association of SNPs and haplotypes in APOL1, 2 and 4 with schizophrenia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
APOL2 has been found only in humans and African green monkeys
Title: The apolipoprotein L gene cluster has emerged recently in evolution and is expressed in human vascular tissue.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Schizophrenia MedGen: C0036341 OMIM: 181500 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

APOL2_299.2 (e-PCR)
- UniSTS:277000

APOL3_301 (e-PCR)
- UniSTS:277001

D22S924 (e-PCR)
- UniSTS:53046

RH80142 (e-PCR)
- UniSTS:84846

D22S541 (e-PCR)
- UniSTS:33925

D22S1173 (e-PCR), detects polymorphism
- UniSTS:5784

AL021679 (e-PCR)
- UniSTS:23204

D22S592 (e-PCR)
- UniSTS:149718

Homology

Homologs of the APOL2 gene: The APOL2 gene is conserved in chimpanzee, Rhesus monkey, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 16 organisms have orthologs with human gene APOL2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables high-density lipoprotein particle binding	NAS Non-traceable Author Statement more info	PubMed
enables lipid binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables lipid binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in acute-phase response	NAS Non-traceable Author Statement more info	PubMed
involved_in cholesterol metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in lipid metabolic process	NAS Non-traceable Author Statement more info	PubMed
involved_in lipid transport	NAS Non-traceable Author Statement more info	PubMed
involved_in lipoprotein metabolic process	IEA Inferred from Electronic Annotation more info
involved_in maternal process involved in female pregnancy	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: apolipoprotein L2

Names: apolipoprotein L, 2; apolipoprotein L-II

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023229.2 RefSeqGene

Range

5428..18746

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_030882.4 → NP_112092.2 apolipoprotein L2

See identical proteins and their annotated locations for NP_112092.2

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) is the predominant transcript. Variant alpha and variant beta encode the same protein.

Source sequence(s)

AF305225, AF324223, BC004395, HY306110

Consensus CDS

CCDS43014.1

UniProtKB/Swiss-Prot

Q9BQE5, Q9UH10

UniProtKB/TrEMBL

A0A024R1M8

Related

ENSP00000351292.5, ENST00000358502.10

Conserved Domains (1) summary

pfam05461
Location:33 → 331

ApoL; Apolipoprotein L
NM_145637.3 → NP_663612.2 apolipoprotein L2

See identical proteins and their annotated locations for NP_663612.2

Status: REVIEWED

Description

Transcript Variant: This variant (beta) differs in the 5' UTR compared to variant alpha. Both variants encode the same protein.

Source sequence(s)

AF305225, AF324224, BC004395, HY306110

Consensus CDS

CCDS43014.1

UniProtKB/Swiss-Prot

Q9BQE5, Q9UH10

UniProtKB/TrEMBL

A0A024R1M8

Related

ENSP00000249066.6, ENST00000249066.10

Conserved Domains (1) summary

pfam05461
Location:33 → 331

ApoL; Apolipoprotein L