Gene Gene information from NCBI Gene database.
Entrez ID 64843
Gene name ISL LIM homeobox 2
Gene symbol ISL2
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q24.3
miRNA miRNA information provided by mirtarbase database.
60
miRTarBase ID miRNA Experiments Reference
MIRT490294 hsa-miR-7160-3p PAR-CLIP 23592263
MIRT490293 hsa-miR-7706 PAR-CLIP 23592263
MIRT490292 hsa-miR-1252-5p PAR-CLIP 23592263
MIRT490291 hsa-miR-3195 PAR-CLIP 23592263
MIRT490289 hsa-miR-4533 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0000987 Function Cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609481 18524 ENSG00000159556
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96A47
Protein name Insulin gene enhancer protein ISL-2 (Islet-2)
Protein function Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00412 LIM 27 85 LIM domain Domain
PF00412 LIM 89 145 LIM domain Domain
PF00046 Homeodomain 192 248 Homeodomain Domain
Sequence
MVDIIFHYPFLGAMGDHSKKKPGTAMCVGCGSQIHDQFILRVSPDLEWHAACLKCAECSQ
YLDETCTCFVRDGKTYCKRDYVRLF
GIKCAKCQVGFSSSDLVMRARDSVYHIECFRCSVC
SRQLLPGDEFSLREHELLCRADHGL
LLERAAAGSPRSPGPLPGARGLHLPDAGSGRQPAL
RPHVHKQTEKTTRVRTVLNEKQLHTLRTCYAANPRPDALMKEQLVEMTGLSPRVIRVWFQ
NKRCKDKK
KSILMKQLQQQQHSDKTSLQGLTGTPLVAGSPIRHENAVQGSAVEVQTYQPP
WKALSEFALQSDLDQPAFQQLVSFSESGSLGNSSGSDVTSLSSQLPDTPNSMVPSPVET
Sequence length 359
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SLEEP APNEA 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
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 35508175 Associate
★☆☆☆☆
Found in Text Mining only
Diverticular Bleeding Diverticular Bleeding CTD_human_DG 30177863
★☆☆☆☆
Found in Text Mining only
Diverticular Diseases Diverticular Diseases CTD_human_DG 30177863
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 35508175 Associate
★☆☆☆☆
Found in Text Mining only