Gene Gene information from NCBI Gene database.
Entrez ID 79763
Gene name Isochorismatase domain containing 2
Gene symbol ISOC2
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19q13.42
miRNA miRNA information provided by mirtarbase database.
73
miRTarBase ID miRNA Experiments Reference
MIRT030140 hsa-miR-26b-5p Microarray 19088304
MIRT052263 hsa-let-7b-5p CLASH 23622248
MIRT043676 hsa-miR-342-3p CLASH 23622248
MIRT041590 hsa-miR-193b-3p CLASH 23622248
MIRT041590 hsa-miR-193b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17658461
GO:0005634 Component Nucleus IDA 17658461
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 17658461
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612928 26278 ENSG00000063241
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96AB3
Protein name Isochorismatase domain-containing protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00857 Isochorismatase 16 163 Isochorismatase family Family
Sequence
Sequence length 205
Interactions View interactions
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
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS CTD
★★☆☆☆
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
Degenerative polyarthritis Arthritis CTD_human_DG 18784066
★☆☆☆☆
Found in Text Mining only
Osteoarthrosis Deformans Osteoarthrosis Deformans CTD_human_DG 18784066
★☆☆☆☆
Found in Text Mining only