ISL2
gene geneOn this page
Also known as FLJ10160
Summary
ISL2 (ISL LIM homeobox 2, HGNC:18524) is a protein-coding gene on chromosome 15q24.3, encoding Insulin gene enhancer protein ISL-2 (Q96A47). Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in axonogenesis; neuron fate specification; and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of neuron differentiation and neuron differentiation. Predicted to be located in chromatin. Predicted to be active in nucleus.
Source: NCBI Gene 64843 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 43 total
- MANE Select transcript:
NM_145805
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18524 |
| Approved symbol | ISL2 |
| Name | ISL LIM homeobox 2 |
| Location | 15q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10160 |
| Ensembl gene | ENSG00000159556 |
| Ensembl biotype | protein_coding |
| OMIM | 609481 |
| Entrez | 64843 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 1 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000290759, ENST00000558437, ENST00000558656
RefSeq mRNA: 1 — MANE Select: NM_145805
NM_145805
CCDS: CCDS10290
Canonical transcript exons
ENST00000290759 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001110855 | 76337778 | 76337967 |
| ENSE00001207935 | 76341719 | 76342475 |
| ENSE00001299340 | 76336773 | 76336941 |
| ENSE00003497426 | 76341134 | 76341301 |
| ENSE00003540383 | 76338252 | 76338514 |
| ENSE00003618559 | 76340276 | 76340559 |
Expression profiles
Bgee: expression breadth broad, 100 present calls, max score 86.23.
FANTOM5 (CAGE): breadth broad, TPM avg 3.3937 / max 146.6949, expressed in 617 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147842 | 2.1222 | 431 |
| 147841 | 0.9013 | 396 |
| 147840 | 0.2099 | 87 |
| 147839 | 0.1603 | 42 |
Top tissues by expression
219 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.23 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 69.77 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 69.44 | gold quality |
| lower esophagus | UBERON:0013473 | 69.37 | gold quality |
| granulocyte | CL:0000094 | 69.34 | gold quality |
| mucosa of stomach | UBERON:0001199 | 68.16 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 67.87 | gold quality |
| vagina | UBERON:0000996 | 67.25 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 67.04 | gold quality |
| pituitary gland | UBERON:0000007 | 65.52 | gold quality |
| urethra | UBERON:0000057 | 64.96 | silver quality |
| penis | UBERON:0000989 | 64.25 | gold quality |
| blood | UBERON:0000178 | 63.88 | gold quality |
| body of stomach | UBERON:0001161 | 63.18 | gold quality |
| adenohypophysis | UBERON:0002196 | 63.05 | gold quality |
| transverse colon | UBERON:0001157 | 62.63 | gold quality |
| bone marrow cell | CL:0002092 | 62.47 | silver quality |
| stomach | UBERON:0000945 | 61.67 | gold quality |
| leukocyte | CL:0000738 | 61.22 | gold quality |
| esophagus | UBERON:0001043 | 60.80 | gold quality |
| colon | UBERON:0001155 | 60.60 | gold quality |
| monocyte | CL:0000576 | 60.45 | gold quality |
| prostate gland | UBERON:0002367 | 60.24 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 59.81 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 59.80 | gold quality |
| large intestine | UBERON:0000059 | 59.73 | gold quality |
| intestine | UBERON:0000160 | 59.43 | gold quality |
| small intestine | UBERON:0002108 | 58.94 | gold quality |
| minor salivary gland | UBERON:0001830 | 57.59 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 57.16 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.23 |
| E-GEOD-99795 | no | 12.75 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| EPHB1 | Repression |
| INS | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0914.1 | ISL2 | HD-LIM |
| MA0914.2 | ISL2 | HD-LIM |
JASPAR matrix evidence (PMIDs): PMID:7999775
Upstream regulators (CollecTRI, top): ATOH7
miRNA regulators (miRDB)
34 targeting ISL2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-10394-5P | 99.65 | 66.83 | 1852 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-17-3P | 99.55 | 66.77 | 1311 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-6722-3P | 99.45 | 67.62 | 1919 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-1909-3P | 99.03 | 66.56 | 1662 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
| HSA-MIR-4326 | 98.97 | 67.63 | 962 |
| HSA-MIR-29B-1-5P | 98.86 | 68.35 | 1364 |
| HSA-MIR-4477A | 98.83 | 69.75 | 2952 |
| HSA-MIR-887-5P | 98.82 | 65.90 | 1347 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-6754-5P | 98.60 | 65.54 | 1627 |
| HSA-MIR-6780A-3P | 98.42 | 67.49 | 1518 |
| HSA-MIR-6810-5P | 98.29 | 66.21 | 975 |
| HSA-MIR-4299 | 98.28 | 66.96 | 850 |
| HSA-MIR-6732-3P | 98.17 | 67.52 | 802 |
| HSA-MIR-375-3P | 97.91 | 65.12 | 483 |
Literature-anchored findings (GeneRIF, showing 3)
- The broad expression of Isl-2 gene in tissues during embryogenesis and adult development suggests that it may be involved in both differentiation and maintenance of these tissues and might play an important role. (PMID:17091338)
- Experiments in Isl2/EphA3 knock-in mice test the interactions between effects of molecular labels and correlated activity during the development of neural connectivity. (PMID:21190559)
- ISL2 is a putative tumor suppressor whose epigenetic silencing reprograms the metabolism of pancreatic cancer. (PMID:35508175)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | isl2a | ENSDARG00000003971 |
| danio_rerio | isl2b | ENSDARG00000053499 |
| mus_musculus | Isl2 | ENSMUSG00000032318 |
| rattus_norvegicus | Isl2 | ENSRNOG00000015336 |
| drosophila_melanogaster | tup | FBGN0003896 |
| caenorhabditis_elegans | lim-7 | WBGENE00002989 |
Paralogs (1): ISL1 (ENSG00000016082)
Protein
Protein identifiers
Insulin gene enhancer protein ISL-2 — Q96A47 (reviewed: Q96A47)
All UniProt accessions (2): Q96A47, H0YN25
UniProt curated annotations — full annotation on UniProt →
Function. Transcriptional factor that defines subclasses of motoneurons that segregate into columns in the spinal cord and select distinct axon pathways.
Subunit / interactions. Interacts with LHX4.
Subcellular location. Nucleus.
RefSeq proteins (1): NP_665804* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR001781 | Znf_LIM | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR047169 | ISL1/2-like | Family |
| IPR047244 | ISL1/2-like_LIM1 | Domain |
Pfam: PF00046, PF00412
UniProt features (12 total): modified residue 3, region of interest 3, domain 2, compositionally biased region 2, chain 1, DNA-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96A47-F1 | 69.66 | 0.25 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (3): 157, 279, 154
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 99 (showing top):
GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_RETINAL_GANGLION_CELL_AXON_GUIDANCE, GOBP_NEUROGENESIS, GOBP_CELL_DIFFERENTIATION_IN_SPINAL_CORD, GOBP_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION, PATIL_LIVER_CANCER, GOBP_VENTRAL_SPINAL_CORD_DEVELOPMENT, GOBP_SPINAL_CORD_MOTOR_NEURON_CELL_FATE_SPECIFICATION, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_PERIPHERAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, GOBP_NEURON_FATE_SPECIFICATION, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, ZHAN_MULTIPLE_MYELOMA_HP_UP
GO Biological Process (13): axonogenesis (GO:0007409), spinal cord motor neuron cell fate specification (GO:0021520), visceral motor neuron differentiation (GO:0021524), retinal ganglion cell axon guidance (GO:0031290), negative regulation of neuron differentiation (GO:0045665), positive regulation of transcription by RNA polymerase II (GO:0045944), neuron fate specification (GO:0048665), neuron development (GO:0048666), peripheral nervous system neuron development (GO:0048935), regulation of DNA-templated transcription (GO:0006355), cell differentiation (GO:0030154), neuron differentiation (GO:0030182), neuron fate commitment (GO:0048663)
GO Molecular Function (7): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), cis-regulatory region sequence-specific DNA binding (GO:0000987), DNA binding (GO:0003677), metal ion binding (GO:0046872), sequence-specific double-stranded DNA binding (GO:1990837), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| neuron differentiation | 3 |
| spinal cord motor neuron differentiation | 2 |
| regulation of transcription by RNA polymerase II | 2 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| neuron fate specification | 1 |
| axon guidance | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| cell fate specification | 1 |
| neuron fate commitment | 1 |
| cell development | 1 |
| neuron development | 1 |
| peripheral nervous system neuron differentiation | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cellular developmental process | 1 |
| cell differentiation | 1 |
| generation of neurons | 1 |
| cell fate commitment | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| transcription cis-regulatory region binding | 1 |
| nucleic acid binding | 1 |
| cation binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1182 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ISL2 | MNX1 | P50219 | 808 |
| ISL2 | NEUROG2 | Q9H2A3 | 794 |
| ISL2 | GDPD5 | Q8WTR4 | 762 |
| ISL2 | ZIC2 | O95409 | 742 |
| ISL2 | EPHB1 | P54762 | 733 |
| ISL2 | OLIG2 | Q13516 | 708 |
| ISL2 | LHX3 | Q9UBR4 | 704 |
| ISL2 | LHX4 | Q969G2 | 683 |
| ISL2 | LDB1 | Q86U70 | 640 |
| ISL2 | EVX1 | P49640 | 626 |
| ISL2 | GDPD2 | Q9HCC8 | 597 |
| ISL2 | VSX2 | P58304 | 546 |
| ISL2 | POU4F1 | Q01851 | 543 |
| ISL2 | POU4F2 | Q12837 | 537 |
| ISL2 | NKX6-2 | Q9C056 | 518 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LHX4 | ISL2 | psi-mi:“MI:0915”(physical association) | 0.760 |
| PYGO1 | BCL9 | psi-mi:“MI:0914”(association) | 0.700 |
| SSBP3 | LHX1 | psi-mi:“MI:0914”(association) | 0.570 |
| LDB1 | ISL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | ZBTB43 | psi-mi:“MI:0914”(association) | 0.550 |
| SSBP4 | LDB2 | psi-mi:“MI:0914”(association) | 0.550 |
| SSBP2 | CLEC18A | psi-mi:“MI:0914”(association) | 0.530 |
| LHX4 | THAP12 | psi-mi:“MI:0914”(association) | 0.530 |
| ARIH1 | SPOP | psi-mi:“MI:0914”(association) | 0.530 |
| SSBP4 | GM2A | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGAP1 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| SYNGAP1 | SEC16A | psi-mi:“MI:0914”(association) | 0.530 |
| PICK1 | ILVBL | psi-mi:“MI:0914”(association) | 0.530 |
| IFNA10 | ISL2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IFNA21 | ISL2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IFNA4 | ISL2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IFNA7 | ISL2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SSBP3 | LHX2 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| LMO2 | APBB1 | psi-mi:“MI:0914”(association) | 0.350 |
| IDI2 | LMX1B | psi-mi:“MI:0914”(association) | 0.350 |
| SSBP3 | LHX1 | psi-mi:“MI:0914”(association) | 0.350 |
| LHX1 | AIFM1 | psi-mi:“MI:0914”(association) | 0.350 |
| LHX3 | HAL | psi-mi:“MI:0914”(association) | 0.350 |
| LHX4 | FLOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| DYRK1A | TEX13D | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (73): ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), ISL2 (Affinity Capture-MS), LDB1 (Two-hybrid), LHX3 (Reconstituted Complex)
ESM2 similar proteins: A0JNI8, A2I8Z7, A2PZF9, G5EC36, G5EE86, G5EEA1, P20154, P29673, P29674, P34764, P34765, P36198, P36200, P37137, P48742, P50211, P50212, P50458, P50481, P52889, P53405, P53406, P53407, P53408, P53409, P53411, P53412, P61371, P61372, P61373, P61374, P61375, P61376, P63006, P63007, P63008, Q1LWV4, Q5IS44, Q5IS89, Q68EY3
Diamond homologs: A0JNI8, A2I8Z7, A2PZF9, G5EC36, G5EE86, O14639, O35652, O60663, O88609, O94929, O97581, P20154, P25791, P25800, P25801, P29673, P29674, P34764, P34765, P36198, P36200, P37137, P48742, P50211, P50212, P50458, P50480, P50481, P52889, P53405, P53406, P53407, P53408, P53409, P53410, P53411, P53412, P53413, P53667, P53668
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LHX3 | “up-regulates activity” | ISL2 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 55 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| SARS-CoV-2 activates/modulates innate and adaptive immune responses | 5 | 12.8× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| neuron differentiation | 9 | 17.7× | 4e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
898 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:76337777:GAGAA:G | acceptor_gain | 1.0000 |
| 15:76337968:GTGA:G | donor_loss | 1.0000 |
| 15:76337969:T:G | donor_loss | 1.0000 |
| 15:76340135:G:GT | donor_gain | 1.0000 |
| 15:76340555:AGACG:A | donor_gain | 1.0000 |
| 15:76340556:GACG:G | donor_gain | 1.0000 |
| 15:76340556:GACGG:G | donor_gain | 1.0000 |
| 15:76340559:GGTG:G | donor_loss | 1.0000 |
| 15:76340560:G:A | donor_loss | 1.0000 |
| 15:76340560:G:GG | donor_gain | 1.0000 |
| 15:76340561:T:G | donor_loss | 1.0000 |
| 15:76341132:A:AG | acceptor_gain | 1.0000 |
| 15:76341133:G:GG | acceptor_gain | 1.0000 |
| 15:76341133:GA:G | acceptor_gain | 1.0000 |
| 15:76341298:GCTG:G | donor_gain | 1.0000 |
| 15:76341300:TGGTG:T | donor_loss | 1.0000 |
| 15:76341301:GGT:G | donor_loss | 1.0000 |
| 15:76341302:G:GG | donor_gain | 1.0000 |
| 15:76341302:GTGAG:G | donor_loss | 1.0000 |
| 15:76341303:T:A | donor_loss | 1.0000 |
| 15:76336939:AGA:A | donor_gain | 0.9900 |
| 15:76336940:GA:G | donor_gain | 0.9900 |
| 15:76336940:GAG:G | donor_gain | 0.9900 |
| 15:76336942:G:GG | donor_gain | 0.9900 |
| 15:76337772:C:CA | acceptor_gain | 0.9900 |
| 15:76337774:GCA:G | acceptor_loss | 0.9900 |
| 15:76337775:CA:C | acceptor_loss | 0.9900 |
| 15:76337776:A:AC | acceptor_loss | 0.9900 |
| 15:76337776:A:AG | acceptor_gain | 0.9900 |
| 15:76337777:G:GA | acceptor_gain | 0.9900 |
AlphaMissense
2360 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:76337798:T:A | C27S | 1.000 |
| 15:76337798:T:C | C27R | 1.000 |
| 15:76337799:G:A | C27Y | 1.000 |
| 15:76337799:G:C | C27S | 1.000 |
| 15:76337800:C:G | C27W | 1.000 |
| 15:76337807:T:A | C30S | 1.000 |
| 15:76337807:T:C | C30R | 1.000 |
| 15:76337808:G:A | C30Y | 1.000 |
| 15:76337808:G:C | C30S | 1.000 |
| 15:76337808:G:T | C30F | 1.000 |
| 15:76337809:C:G | C30W | 1.000 |
| 15:76337838:T:C | L40P | 1.000 |
| 15:76337861:T:A | W48R | 1.000 |
| 15:76337861:T:C | W48R | 1.000 |
| 15:76337862:G:C | W48S | 1.000 |
| 15:76337863:G:C | W48C | 1.000 |
| 15:76337863:G:T | W48C | 1.000 |
| 15:76337864:C:G | H49D | 1.000 |
| 15:76337866:C:A | H49Q | 1.000 |
| 15:76337866:C:G | H49Q | 1.000 |
| 15:76337873:T:A | C52S | 1.000 |
| 15:76337873:T:C | C52R | 1.000 |
| 15:76337874:G:A | C52Y | 1.000 |
| 15:76337874:G:C | C52S | 1.000 |
| 15:76337874:G:T | C52F | 1.000 |
| 15:76337875:C:G | C52W | 1.000 |
| 15:76337877:T:A | L53H | 1.000 |
| 15:76337877:T:C | L53P | 1.000 |
| 15:76337882:T:A | C55S | 1.000 |
| 15:76337882:T:C | C55R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000191675 (15:76338559 C>A), RS1001063008 (15:76340660 A>G), RS1001369842 (15:76340434 C>G), RS1001414775 (15:76339486 C>T), RS1002049240 (15:76336611 ACCCAACCCACC>A), RS1002372018 (15:76339871 T>C), RS1002802662 (15:76338610 G>C), RS1002878541 (15:76340141 G>A,C), RS1003250502 (15:76342232 G>T), RS1003470214 (15:76342017 A>T), RS1003724703 (15:76335852 G>C), RS1004100584 (15:76340774 C>A), RS1004722496 (15:76341000 A>C,G), RS1004864055 (15:76340962 C>G,T), RS1004938593 (15:76334819 A>G)
Disease associations
OMIM: gene MIM:609481 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006479_152 | Diverticular disease | 1.000000e-07 |
| GCST006479_153 | Diverticular disease | 7.000000e-06 |
| GCST007876_30 | Estimated glomerular filtration rate | 3.000000e-25 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009959 | diverticular disease |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silver | increases expression | 2 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| ochratoxin A | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | increases expression | 1 |
| mercuric bromide | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | increases abundance, increases expression, affects cotreatment | 1 |
| Hexachlorocyclohexane | increases expression | 1 |
| Cisplatin | increases expression | 1 |
| Cyclophosphamide | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A3I6 | SEES3-1V human ISL2, clone1 | Embryonic stem cell | Male |
| CVCL_A3I7 | SEES3-1V human ISL2, clone2 | Embryonic stem cell | Male |
| CVCL_A3I8 | SEES3-1V human ISL2, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.