GABARAPL2 GABA type A receptor associated protein like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GABARAPL2provided by HGNC
Official Full Name: GABA type A receptor associated protein like 2provided by HGNC
Primary source: HGNC:HGNC:13291
See related: Ensembl:ENSG00000034713 MIM:607452; AllianceGenome:HGNC:13291
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATG8; GEF2; ATG8C; GEF-2; GATE16; GATE-16
Summary: Enables phosphatidylethanolamine binding activity and ubiquitin protein ligase binding activity. Involved in negative regulation of proteasomal protein catabolic process and protein localization to endoplasmic reticulum. Located in Golgi membrane and autophagosome membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in brain (RPKM 110.1), heart (RPKM 86.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (75566379..75577881)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (81614626..81626171)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (75600277..75611779)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

ATG8 proteins are co-factors for human dopaminergic neuronal transcriptional control: implications for neuronal resilience in Parkinson disease.
Title: ATG8 proteins are co-factors for human dopaminergic neuronal transcriptional control: implications for neuronal resilience in Parkinson disease.
An ALS-associated variant of the autophagy receptor SQSTM1/p62 reprograms binding selectivity toward the autophagy-related hATG8 proteins.
Title: An ALS-associated variant of the autophagy receptor SQSTM1/p62 reprograms binding selectivity toward the autophagy-related hATG8 proteins.
The V-ATPase complex regulates non-canonical Atg8-family protein lipidation through ATG16L1 recruitment.
Title: The V-ATPase complex regulates non-canonical Atg8-family protein lipidation through ATG16L1 recruitment.
Phosphorylation of the LIR Domain of SCOC Modulates ATG8 Binding Affinity and Specificity.
Title: Phosphorylation of the LIR Domain of SCOC Modulates ATG8 Binding Affinity and Specificity.
Non-canonical autophagy drives alternative ATG8 conjugation to phosphatidylserine.
Title: Non-canonical autophagy drives alternative ATG8 conjugation to phosphatidylserine.
Autophagic Network Analysis of the Dual Effect of Sevoflurane on Neurons Associated with GABARAPL1 and 2.
Title: Autophagic Network Analysis of the Dual Effect of Sevoflurane on Neurons Associated with GABARAPL1 and 2.
A PI3K-WIPI2 positive feedback loop allosterically activates LC3 lipidation in autophagy.
Title: A PI3K-WIPI2 positive feedback loop allosterically activates LC3 lipidation in autophagy.
Lack of GABARAP-Type Proteins Is Accompanied by Altered Golgi Morphology and Surfaceome Composition.
Title: Lack of GABARAP-Type Proteins Is Accompanied by Altered Golgi Morphology and Surfaceome Composition.
Curvature-sensitive trans-assembly of human Atg8-family proteins in autophagy-related membrane tethering.
Title: Curvature-sensitive trans-assembly of human Atg8-family proteins in autophagy-related membrane tethering.
An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5.
Title: An atypical LIR motif within UBA5 (ubiquitin like modifier activating enzyme 5) interacts with GABARAP proteins and mediates membrane localization of UBA5.

Submit: New GeneRIF Correction See all GeneRIFs (43)

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

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of GABA(A) receptor-associated protein-like 2 (GABARAPL2) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag and Gag-derived proteins colocalize and interact with the autophagy factor LC3 (ATG8), and autophagy factor LC3 (ATG8) promotes productive Gag processing	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3415 (e-PCR)
- UniSTS:3886

D20S1078 (e-PCR)
- UniSTS:154709

NIB1153 (e-PCR)
- UniSTS:13807

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables GABA receptor binding	ISS Inferred from Sequence or Structural Similarity more info
enables GABA receptor binding	NAS Non-traceable Author Statement more info	PubMed
enables SNARE binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables beta-tubulin binding	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	NAS Non-traceable Author Statement more info	PubMed
enables phosphatidylethanolamine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylethanolamine binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagosome assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagosome maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagy	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to nitrogen starvation	IBA Inferred from Biological aspect of Ancestor more info
involved_in intra-Golgi vesicle-mediated transport	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in mitophagy	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of proteasomal protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of ATP-dependent activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein localization to endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in protein transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in autophagosome	IDA Inferred from Direct Assay more info	PubMed
is_active_in autophagosome membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in autophagosome membrane	IDA Inferred from Direct Assay more info	PubMed
located_in autophagosome membrane	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gamma-aminobutyric acid receptor-associated protein-like 2

Names: GABA(A) receptor-associated protein-like 2; MAP1 light chain 3 related protein; ganglioside expression factor 2; general protein transport factor p16; golgi-associated ATPase enhancer of 16 kDa

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.

mRNA and Protein(s)

NM_007285.7 → NP_009216.1 gamma-aminobutyric acid receptor-associated protein-like 2

See identical proteins and their annotated locations for NP_009216.1

Status: VALIDATED

Source sequence(s)

AB030710

Consensus CDS

CCDS10921.1

UniProtKB/Swiss-Prot

O08765, P60520, Q6FG91, Q9DCP8, Q9UQF7

Related

ENSP00000037243.2, ENST00000037243.7

Conserved Domains (1) summary

cd17163
Location:5 → 116

Ubl_ATG8_GABARAPL2; ubiquitin-like (Ubl) domain found in GABA type A receptor associated protein like 2 (GABARAPL2, also known as GATE16)