Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64225
Gene name Gene Name - the full gene name approved by the HGNC.
Atlastin GTPase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATL2
Synonyms (NCBI Gene) Gene synonyms aliases
ARL3IP2, ARL6IP2, ATL-2, aip-2, atlastin2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p22.2-p22.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020733 hsa-miR-155-5p Proteomics 18668040
MIRT021152 hsa-miR-186-5p Sequencing 20371350
MIRT021317 hsa-miR-125a-5p Sequencing 20371350
MIRT024158 hsa-miR-221-3p Sequencing 20371350
MIRT028540 hsa-miR-30a-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003924 Function GTPase activity IBA
GO:0003924 Function GTPase activity IEA
GO:0005515 Function Protein binding IPI 15161933, 19665976, 23969831, 35271311
GO:0005525 Function GTP binding IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609368 24047 ENSG00000119787
Protein
UniProt ID Q8NHH9
Protein name Atlastin-2 (ATL-2) (EC 3.6.5.-) (ADP-ribosylation factor-like protein 6-interacting protein 2)
Protein function Atlastin-2 (ATL2) is a membrane-anchored GTPase that mediates the GTP-dependent fusion of endoplasmic reticulum (ER) membranes, maintaining the continuous ER network. It facilitates the formation of three-way junctions where ER tubules intersect
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02263 GBP 70 341 Guanylate-binding protein, N-terminal domain Domain
PF02841 GBP_C 343 473 Guanylate-binding protein, C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in peripheral tissues (at protein level). {ECO:0000269|PubMed:18270207}.
Sequence
Sequence length 583
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 33878706
Carcinoma Hepatocellular Associate 38305606
Leukemia Lymphoma Adult T Cell Associate 3865189
Neoplasm Metastasis Associate 26965286
Non alcoholic Fatty Liver Disease Associate 38305606
Salivary Gland Neoplasms Associate 33878706