Gene Gene information from NCBI Gene database.
Entrez ID 11345
Gene name GABA type A receptor associated protein like 2
Gene symbol GABARAPL2
Synonyms (NCBI Gene)
ATG8ATG8CGATE-16GATE16GEF-2GEF2
Chromosome 16
Chromosome location 16q23.1
miRNA miRNA information provided by mirtarbase database.
169
miRTarBase ID miRNA Experiments Reference
MIRT028644 hsa-miR-30a-5p Proteomics 18668040
MIRT049629 hsa-miR-92a-3p CLASH 23622248
MIRT144591 hsa-miR-374a-5p HITS-CLIP 22473208
MIRT144591 hsa-miR-374a-5p HITS-CLIP 22473208
MIRT1009415 hsa-miR-105 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000139 Component Golgi membrane IDA 21669198
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane ISS 10747018, 11414770
GO:0000149 Function SNARE binding ISS 10747018
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607452 13291 ENSG00000034713
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P60520
Protein name Gamma-aminobutyric acid receptor-associated protein-like 2 (GABA(A) receptor-associated protein-like 2) (Ganglioside expression factor 2) (GEF-2) (General protein transport factor p16) (Golgi-associated ATPase enhancer of 16 kDa) (GATE-16) (MAP1 light cha
Protein function Ubiquitin-like modifier involved in intra-Golgi traffic (By similarity). Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation (By similarity). It first stimulates the ATPase activity of NSF which in turn st
PDB 4CO7 , 6H8C , 7LK3 , 7YO8 , 8Q6Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02991 Atg8 13 116 Autophagy protein Atg8 ubiquitin like Domain
Tissue specificity 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. {ECO:0000269|PubMed:11146101, ECO:0000269|PubMed:11414770}.
Sequence
Sequence length 117
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  FoxO signaling pathway
Autophagy - other
Mitophagy - animal
Autophagy - animal
NOD-like receptor signaling pathway
GABAergic synapse
  Macroautophagy
TBC/RABGAPs
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 25986473
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 35500219 Associate
★☆☆☆☆
Found in Text Mining only
Anemia, Diamond-Blackfan Anemia BEFREE 30125570
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30374741 Associate
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Developmental disability Pubtator 34914033 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 32221364 Associate
★☆☆☆☆
Found in Text Mining only
Diamond-Blackfan Anemia 1 Diamond-Blackfan anemia BEFREE 30125570
★☆☆☆☆
Found in Text Mining only
Epidermodysplasia Verruciformis Epidermodysplasia verruciformis Pubtator 36044516 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 32831056 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Myeloid leukemia Pubtator 23891751 Associate
★☆☆☆☆
Found in Text Mining only