Gene Gene information from NCBI Gene database.
Entrez ID 64225
Gene name Atlastin GTPase 2
Gene symbol ATL2
Synonyms (NCBI Gene)
ARL3IP2ARL6IP2ATL-2aip-2atlastin2
Chromosome 2
Chromosome location 2p22.2-p22.1
miRNA miRNA information provided by mirtarbase database.
338
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609368 24047 ENSG00000119787
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
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
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 15871724, 2172979
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28578701
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38305606 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★☆☆☆☆
Found in Text Mining only
Leukemia, T-Cell T-cell leukemia BEFREE 15871724, 2172979
★☆☆☆☆
Found in Text Mining only
Salivary Gland Neoplasms Salivary gland neoplasms Pubtator 33878706 Associate
★☆☆☆☆
Found in Text Mining only