Human Gene GABARAPL2 (ENST00000037243.7_4) from GENCODE V47lift37
  Description: GABA type A receptor associated protein like 2 (from RefSeq NM_007285.7)
Gencode Transcript: ENST00000037243.7_4
Gencode Gene: ENSG00000034713.8_7
Transcript (Including UTRs)
   Position: hg19 chr16:75,600,277-75,611,779 Size: 11,503 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr16:75,600,385-75,611,267 Size: 10,883 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:75,600,277-75,611,779)mRNA (may differ from genome)Protein (117 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GBRL2_HUMAN
DESCRIPTION: RecName: Full=Gamma-aminobutyric acid receptor-associated protein-like 2; AltName: Full=GABA(A) receptor-associated protein-like 2; AltName: Full=Ganglioside expression factor 2; Short=GEF-2; AltName: Full=General protein transport factor p16; AltName: Full=Golgi-associated ATPase enhancer of 16 kDa; Short=GATE-16; AltName: Full=MAP1 light chain 3-related protein;
FUNCTION: Involved in intra-Golgi traffic. Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation. It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity).
SUBUNIT: Monomer. Interacts with GABRG2, NSF, GOSR1 and beta- tubulin (By similarity). Interacts with ULK1. Interacts with TP53INP1 and TP53INP2. Interacts with TBC1D25.
INTERACTION: O75143:ATG13; NbExp=2; IntAct=EBI-720116, EBI-2798775; Q2TAZ0:ATG2A; NbExp=2; IntAct=EBI-720116, EBI-2514077; Q9NT62:ATG3; NbExp=4; IntAct=EBI-720116, EBI-988094; Q9Y4P1:ATG4B; NbExp=5; IntAct=EBI-720116, EBI-712014; O95352:ATG7; NbExp=4; IntAct=EBI-720116, EBI-987834; Q8WXU2:DYX1C1; NbExp=2; IntAct=EBI-720116, EBI-2946907; P00533:EGFR; NbExp=2; IntAct=EBI-720116, EBI-297353; Q9BQS8:FYCO1; NbExp=2; IntAct=EBI-720116, EBI-2869338; O75323:GBAS; NbExp=4; IntAct=EBI-720116, EBI-307133; P40939:HADHA; NbExp=3; IntAct=EBI-720116, EBI-356720; O00410:IPO5; NbExp=4; IntAct=EBI-720116, EBI-356424; Q86V97:KBTBD6; NbExp=2; IntAct=EBI-720116, EBI-2514778; Q8WVZ9:KBTBD7; NbExp=2; IntAct=EBI-720116, EBI-473695; Q14596:NBR1; NbExp=10; IntAct=EBI-720116, EBI-742698; P46934:NEDD4; NbExp=3; IntAct=EBI-720116, EBI-726944; Q8TD19:NEK9; NbExp=4; IntAct=EBI-720116, EBI-1044009; Q9NS23:RASSF1; NbExp=2; IntAct=EBI-720116, EBI-367363; Q8WWW0:RASSF5; NbExp=2; IntAct=EBI-720116, EBI-367390; Q13501:SQSTM1; NbExp=8; IntAct=EBI-720116, EBI-307104; O95210:STBD1; NbExp=3; IntAct=EBI-720116, EBI-2947137; Q13188:STK3; NbExp=2; IntAct=EBI-720116, EBI-992580; Q13043:STK4; NbExp=2; IntAct=EBI-720116, EBI-367376; Q8TC07:TBC1D15; NbExp=2; IntAct=EBI-720116, EBI-1048247; Q9UPU7:TBC1D2B; NbExp=2; IntAct=EBI-720116, EBI-2947180; O15040:TECPR2; NbExp=2; IntAct=EBI-720116, EBI-2946991; Q9GZZ9:UBA5; NbExp=6; IntAct=EBI-720116, EBI-747805; O75385:ULK1; NbExp=3; IntAct=EBI-720116, EBI-908831;
SUBCELLULAR LOCATION: Golgi apparatus (By similarity). Cytoplasmic vesicle, autophagosome.
TISSUE SPECIFICITY: Ubiquitous. Expressed at high levels in the brain, heart, prostate, ovary, spleen and skeletal muscle. Expressed at very low levels in lung, thymus and small intestine.
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the MAP1 LC3 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GABARAPL2
Diseases sorted by gene-association score: neuronal ceroid lipofuscinosis (3), amyotrophic lateral sclerosis type 14 (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 75.40 RPKM in Brain - Hypothalamus
Total median expression: 1977.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -32.80108-0.304 Picture PostScript Text
3' UTR -108.90512-0.213 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004241 - Atg8_ubiquitin-like

Pfam Domains:
PF02991 - Autophagy protein Atg8 ubiquitin like
PF04110 - Ubiquitin-like autophagy protein Apg12

SCOP Domains:
54236 - Ubiquitin-like

ModBase Predicted Comparative 3D Structure on P60520
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000149 SNARE binding
GO:0005515 protein binding
GO:0008017 microtubule binding
GO:0031625 ubiquitin protein ligase binding
GO:0048487 beta-tubulin binding
GO:0050811 GABA receptor binding
GO:0051117 ATPase binding

Biological Process:
GO:0000045 autophagosome assembly
GO:0000422 mitophagy
GO:0006891 intra-Golgi vesicle-mediated transport
GO:0006914 autophagy
GO:0006995 cellular response to nitrogen starvation
GO:0015031 protein transport
GO:0016236 macroautophagy
GO:0032781 positive regulation of ATPase activity
GO:0097352 autophagosome maturation
GO:1901799 negative regulation of proteasomal protein catabolic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0000421 autophagosome membrane
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005776 autophagosome
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0031410 cytoplasmic vesicle


-  Descriptions from all associated GenBank mRNAs
  AB030710 - Homo sapiens FLC3A mRNA for MAP1 light chain 3 related protein, complete cds.
LF384463 - JP 2014500723-A/191966: Polycomb-Associated Non-Coding RNAs.
LP895329 - Sequence 193 from Patent EP3253886.
BC029601 - Homo sapiens GABA(A) receptor-associated protein-like 2, mRNA (cDNA clone MGC:39783 IMAGE:5296075), complete cds.
AK289788 - Homo sapiens cDNA FLJ76520 complete cds, highly similar to Homo sapiens GABA(A) receptor-associated protein-like 2 (GABARAPL2), mRNA.
AF087848 - Homo sapiens GABA-A receptor-associated protein like 2 (GABARAPL2) mRNA, complete cds.
AK311266 - Homo sapiens cDNA, FLJ18308.
AJ010569 - Homo sapiens mRNA for GEF-2 protein.
AF077046 - Homo sapiens ganglioside expression factor 2 homolog mRNA, complete cds.
BC014594 - Homo sapiens GABA(A) receptor-associated protein-like 2, mRNA (cDNA clone MGC:26328 IMAGE:4821535), complete cds.
BC005985 - Homo sapiens GABA(A) receptor-associated protein-like 2, mRNA (cDNA clone MGC:14752 IMAGE:4282114), complete cds.
JD143195 - Sequence 124219 from Patent EP1572962.
AB463663 - Synthetic construct DNA, clone: pF1KB8311, Homo sapiens GABARAPL2 gene for GABA(A) receptor-associated protein-like 2, without stop codon, in Flexi system.
AM393324 - Synthetic construct Homo sapiens clone IMAGE:100002033 for hypothetical protein (GABARAPL2 gene).
DQ893101 - Synthetic construct clone IMAGE:100005731; FLH193750.01X; RZPDo839B0879D GABA(A) receptor-associated protein-like 2 (GABARAPL2) gene, encodes complete protein.
DQ896373 - Synthetic construct Homo sapiens clone IMAGE:100010833; FLH193746.01L; RZPDo839B0869D GABA(A) receptor-associated protein-like 2 (GABARAPL2) gene, encodes complete protein.
KJ906072 - Synthetic construct Homo sapiens clone ccsbBroadEn_15742 GABARAPL2 gene, encodes complete protein.
KJ893288 - Synthetic construct Homo sapiens clone ccsbBroadEn_02682 GABARAPL2 gene, encodes complete protein.
CR542217 - Homo sapiens full open reading frame cDNA clone RZPDo834A0725D for gene GABARAPL2, GABA(A) receptor-associated protein-like 2; complete cds, incl. stopcodon.
LF374757 - JP 2014500723-A/182260: Polycomb-Associated Non-Coding RNAs.
BC040312 - Homo sapiens GABA(A) receptor-associated protein-like 2, mRNA (cDNA clone IMAGE:4837144).
LF374763 - JP 2014500723-A/182266: Polycomb-Associated Non-Coding RNAs.
JD081216 - Sequence 62240 from Patent EP1572962.
LF374764 - JP 2014500723-A/182267: Polycomb-Associated Non-Coding RNAs.
JD227015 - Sequence 208039 from Patent EP1572962.
JD253818 - Sequence 234842 from Patent EP1572962.
JD160636 - Sequence 141660 from Patent EP1572962.
JD424679 - Sequence 405703 from Patent EP1572962.
JD047305 - Sequence 28329 from Patent EP1572962.
LF374765 - JP 2014500723-A/182268: Polycomb-Associated Non-Coding RNAs.
JD304961 - Sequence 285985 from Patent EP1572962.
MA620040 - JP 2018138019-A/191966: Polycomb-Associated Non-Coding RNAs.
MA610334 - JP 2018138019-A/182260: Polycomb-Associated Non-Coding RNAs.
MA610340 - JP 2018138019-A/182266: Polycomb-Associated Non-Coding RNAs.
MA610341 - JP 2018138019-A/182267: Polycomb-Associated Non-Coding RNAs.
MA610342 - JP 2018138019-A/182268: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P60520 (Reactome details) participates in the following event(s):

R-HSA-5681987 LC3 is cleaved by ATG4
R-HSA-5682377 LC3 de-lipidation by ATG4
R-HSA-8854588 TBC1D25 (OATL1) binds ATG8 homologues
R-HSA-5678490 ATG16L1 complex transfers LC3 from ATG3 to PE
R-HSA-5683593 ATG7:ATG3:LC3 dissociates
R-HSA-5682896 LC3:ATG7 dimer binds ATG3
R-HSA-5681981 ATG3 transfers LC3 from ATG7 to ATG3
R-HSA-1632852 Macroautophagy
R-HSA-8854214 TBC/RABGAPs
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-9007101 Rab regulation of trafficking
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000037243.1, ENST00000037243.2, ENST00000037243.3, ENST00000037243.4, ENST00000037243.5, ENST00000037243.6, FLC3A, GABARAPL2 , GBRL2_HUMAN, GEF2, NM_007285, O08765, P60520, Q6FG91, Q9DCP8, Q9UQF7, uc317bza.1, uc317bza.2
UCSC ID: ENST00000037243.7_4
RefSeq Accession: NM_007285.7
Protein: P60520 (aka GBRL2_HUMAN or GRL2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.