Gene Gene information from NCBI Gene database.
Entrez ID 163590
Gene name Torsin 1A interacting protein 2
Gene symbol TOR1AIP2
Synonyms (NCBI Gene)
IFRG15LULL1NET9
Chromosome 1
Chromosome location 1q25.2
Summary One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to t
miRNA miRNA information provided by mirtarbase database.
1302
miRTarBase ID miRNA Experiments Reference
MIRT018849 hsa-miR-335-5p Microarray 18185580
MIRT020056 hsa-miR-375 Microarray 20215506
MIRT045710 hsa-miR-125a-5p CLASH 23622248
MIRT037805 hsa-miR-455-3p CLASH 23622248
MIRT031050 hsa-miR-21-5p MicroarrayqRT-PCR 22815788
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0001671 Function ATPase activator activity IDA 23569223, 24275647
GO:0001671 Function ATPase activator activity IEA
GO:0005515 Function Protein binding IPI 15767459, 23569223, 25416956, 32814053, 33961781
GO:0005634 Component Nucleus IEA
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614513 24055 ENSG00000169905
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NFQ8
Protein name Torsin-1A-interacting protein 2 (Lumenal domain-like LAP1)
Protein function Required for endoplasmic reticulum integrity. Regulates the distribution of TOR1A between the endoplasmic reticulum and the nuclear envelope as well as induces TOR1A, TOR1B and TOR3A ATPase activity. {ECO:0000269|PubMed:19339278, ECO:0000269|Pub
PDB 5J1S , 5J1T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05609 LAP1C 15 469 Lamina-associated polypeptide 1C (LAP1C) Family
Sequence
Sequence length 470
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H496
Protein name Torsin-1A-interacting protein 2, isoform IFRG15 (15 kDa interferon-responsive protein) (IFRG15)
Family and domains
Sequence
MFSDNSHCPDCGQQWFPSLELGHWLYQTELVENECYQVFLDRINRADYCPECYPDNPANR
SLVLPWSFPLEWAPQNLTRWTFEKACHPFLLGPPLVRKRIHDSRVAGFNPALQLILTRTD
KTLNKKLGQNK
Sequence length 131
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
AUTOSOMAL RECESSIVE LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2Y Disgenet
★★☆☆☆
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
Dyskinesias Dyskinesia Pubtator 40088780 Associate
★☆☆☆☆
Found in Text Mining only
Dystonia Dystonia Pubtator 19339278, 40088780 Associate
★☆☆☆☆
Found in Text Mining only
Dystonia Disorders Dystonia BEFREE 19339278, 19651773
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 30042949
★☆☆☆☆
Found in Text Mining only