BHLHA15
gene geneOn this page
Also known as MIST1
Summary
BHLHA15 (basic helix-loop-helix family member a15, HGNC:22265) is a protein-coding gene on chromosome 7q21.3, encoding Class A basic helix-loop-helix protein 15 (Q7RTS1). Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including cellular response to glucose starvation; endoplasmic reticulum unfolded protein response; and negative regulation of myotube differentiation. Predicted to act upstream of or within several processes, including cell-cell adhesion mediated by cadherin; epithelial cell maturation; and intracellular distribution of mitochondria. Predicted to be located in chromatin. Predicted to be active in nucleus.
Source: NCBI Gene 168620 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 42 total
- Transcription factor: yes — 21 downstream targets (CollecTRI)
- MANE Select transcript:
NM_177455
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:22265 |
| Approved symbol | BHLHA15 |
| Name | basic helix-loop-helix family member a15 |
| Location | 7q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MIST1 |
| Ensembl gene | ENSG00000180535 |
| Ensembl biotype | protein_coding |
| OMIM | 608606 |
| Entrez | 168620 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000314018, ENST00000609256, ENST00000930537
RefSeq mRNA: 1 — MANE Select: NM_177455
NM_177455
CCDS: CCDS5655
Canonical transcript exons
ENST00000609256 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003706225 | 98211439 | 98211498 |
| ENSE00003708212 | 98212256 | 98215457 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 99.55.
FANTOM5 (CAGE): breadth broad, TPM avg 1.6812 / max 609.5341, expressed in 253 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79812 | 1.6812 | 253 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 99.55 | gold quality |
| body of pancreas | UBERON:0001150 | 99.20 | gold quality |
| pancreas | UBERON:0001264 | 88.42 | gold quality |
| bone marrow cell | CL:0002092 | 82.58 | gold quality |
| body of stomach | UBERON:0001161 | 80.81 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.30 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 78.80 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 76.93 | gold quality |
| stomach | UBERON:0000945 | 76.66 | gold quality |
| ileal mucosa | UBERON:0000331 | 76.65 | silver quality |
| trachea | UBERON:0003126 | 75.64 | silver quality |
| prostate gland | UBERON:0002367 | 74.68 | gold quality |
| minor salivary gland | UBERON:0001830 | 73.72 | gold quality |
| cardia of stomach | UBERON:0001162 | 73.12 | silver quality |
| tonsil | UBERON:0002372 | 73.07 | gold quality |
| cortical plate | UBERON:0005343 | 71.84 | gold quality |
| duodenum | UBERON:0002114 | 71.65 | gold quality |
| buccal mucosa cell | CL:0002336 | 71.41 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 71.30 | gold quality |
| fundus of stomach | UBERON:0001160 | 71.14 | gold quality |
| seminal vesicle | UBERON:0000998 | 70.93 | silver quality |
| vermiform appendix | UBERON:0001154 | 70.69 | gold quality |
| spleen | UBERON:0002106 | 70.65 | gold quality |
| mouth mucosa | UBERON:0003729 | 70.57 | gold quality |
| right lobe of liver | UBERON:0001114 | 70.11 | gold quality |
| pancreatic ductal cell | CL:0002079 | 69.82 | silver quality |
| islet of Langerhans | UBERON:0000006 | 68.80 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 68.17 | gold quality |
| lymph node | UBERON:0000029 | 67.32 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 66.76 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.95 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
21 targets.
| Target | Regulation |
|---|---|
| AGFG1 | |
| APOE | |
| CDH1 | Unknown |
| CDKN1A | Activation |
| EIF3K | |
| EPO | Unknown |
| FGF21 | |
| FPR2 | |
| GATA4 | Unknown |
| GJB1 | Activation |
| GJB2 | |
| INS | Repression |
| KRT19 | |
| KRT20 | |
| MIB1 | |
| NKX2-5 | Unknown |
| POSTN | Unknown |
| RAB26 | |
| RAB3D | Unknown |
| SCT | Unknown |
| TYR | Activation |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0607.2 | BHLHA15 | Tal-related |
| MA1472.1 | BHLHA15 | Tal-related |
JASPAR matrix evidence (PMIDs): PMID:9482738, PMID:28174210
Upstream regulators (CollecTRI, top): GATA2, XBP1
Literature-anchored findings (GeneRIF, showing 14)
- Mist1 within the hierarchy of known helix-loop-helix/basic helix-loop-helix proteins that control mammary epithelial cell development (PMID:16645041)
- MIST1 binds to highly conserved CATATG E-boxes to directly activate transcription of 6 genes, including those encoding the small GTPases RAB26 and RAB3D. (PMID:20038531)
- Our findings implicate MIST1 as a reliable marker of mature, healthy chief cells, and we provide the first evidence that metaplasia in humans arises at least in part from the chief cell lineage. (PMID:20709804)
- MIST1 is enriched upon plasma cell differentiation. (PMID:21098683)
- Chief cells emerge from the Mist. (PMID:21907708)
- Activation of protein kinase Cdelta leads to increased pancreatic acinar cell dedifferentiation in the absence of MIST1. (PMID:22374815)
- noted a higher mean value of microvascular density in CK5/6 and Ep-CAM-immunopositive tumors, carcinomas with aberrant CK8/18 expression, and carcinomas with no or strong expression of MMP-2 in stromal fibroblast-like cells (PMID:22495370)
- restoring the expression of MIST1 reverses the EMT and reduces the tumorigenicity of pancreatic cancer cells partly via the Snail/E-cadherin pathway (PMID:29859299)
- Overexpression of MIST1-induced AMY1 expression while it had little effect on CK19 expression. (PMID:30759717)
- Mist1 is a sensitive marker for serous acinar cells of salivary glands and acinic cell carcinoma (AciCC), and background non-tumour acinar cells and plasma cells can serve as good internal positive controls. (PMID:31187185)
- High MIST1 expression is associated with lymph node metastasis in Gastric cancer. (PMID:31827644)
- Diffuse MIST1 expression and decreased alpha1,4-linked N-acetylglucosamine (alphaGlcNAc) glycosylation on MUC6 are distinct hallmarks for gastric neoplasms showing oxyntic gland differentiation. (PMID:32502322)
- Clinical Significance of Tumour CD44v and MIST1 Expression in Patients With Non-small-cell Lung Cancer. (PMID:33109579)
- DDX56 transcriptionally activates MIST1 to facilitate tumorigenesis of HCC through PTEN-AKT signaling. (PMID:36168636)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bhlha15 | ENSDARG00000045166 |
| mus_musculus | Bhlha15 | ENSMUSG00000052271 |
| rattus_norvegicus | Bhlha15 | ENSRNOG00000025164 |
| drosophila_melanogaster | dimm | FBGN0023091 |
Paralogs (15): NEUROG3 (ENSG00000122859), NEUROD4 (ENSG00000123307), BHLHE23 (ENSG00000125533), NEUROD1 (ENSG00000162992), NEUROD6 (ENSG00000164600), ATOH8 (ENSG00000168874), NEUROD2 (ENSG00000171532), ATOH1 (ENSG00000172238), OLIG3 (ENSG00000177468), NEUROG2 (ENSG00000178403), ATOH7 (ENSG00000179774), BHLHE22 (ENSG00000180828), NEUROG1 (ENSG00000181965), OLIG1 (ENSG00000184221), OLIG2 (ENSG00000205927)
Protein
Protein identifiers
Class A basic helix-loop-helix protein 15 — Q7RTS1 (reviewed: Q7RTS1)
Alternative names: Class B basic helix-loop-helix protein 8, Muscle, intestine and stomach expression 1
All UniProt accessions (1): Q7RTS1
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in controlling the transcriptional activity of MYOD1, ensuring that expanding myoblast populations remain undifferentiated. Repression may occur through muscle-specific E-box occupancy by homodimers. May also negatively regulate bHLH-mediated transcription through an N-terminal repressor domain. Serves as a key regulator of acinar cell function, stability, and identity. Also required for normal organelle localization in exocrine cells and for mitochondrial calcium ion transport. May function as a unique regulator of gene expression in several different embryonic and postnatal cell lineages. Binds to the E-box consensus sequence 5’-CANNTG-3'.
Subunit / interactions. Forms homodimers or heterodimers with TCF3 gene products E12 and E47. These dimers bind to the E-box site, however, heterodimer with MYOD1 does not bind target DNA.
Subcellular location. Nucleus.
Tissue specificity. Expressed in brain, liver, spleen and skeletal muscle.
Domain organisation. Lacks a classic transcription activation domain and instead possesses an N-terminal region capable of inhibiting heterologous activators.
RefSeq proteins (1): NP_803238* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011598 | bHLH_dom | Domain |
| IPR036638 | HLH_DNA-bd_sf | Homologous_superfamily |
| IPR050359 | bHLH_transcription_factors | Family |
Pfam: PF00010
UniProt features (7 total): region of interest 2, compositionally biased region 2, chain 1, domain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7RTS1-F1 | 70.10 | 0.28 |
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 (1): 25
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-9925561 | Developmental Lineage of Pancreatic Acinar Cells |
| R-HSA-1266738 | Developmental Biology |
| R-HSA-9734767 | Developmental Cell Lineages |
MSigDB gene sets: 123 (showing top):
GSE45365_NK_CELL_VS_CD8_TCELL_UP, GOBP_NEGATIVE_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_MYOTUBE_DIFFERENTIATION, GOBP_NEUROGENESIS, GOBP_CELLULAR_RESPONSE_TO_TOPOLOGICALLY_INCORRECT_PROTEIN, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT
GO Biological Process (20): glandular epithelial cell maturation (GO:0002071), mitochondrial calcium ion transmembrane transport (GO:0006851), Golgi organization (GO:0007030), G protein-coupled receptor signaling pathway (GO:0007186), cell-cell signaling (GO:0007267), sensory organ development (GO:0007423), negative regulation of myotube differentiation (GO:0010832), calcium-mediated signaling (GO:0019722), endoplasmic reticulum unfolded protein response (GO:0030968), cellular response to glucose starvation (GO:0042149), glucose homeostasis (GO:0042593), cell-cell adhesion mediated by cadherin (GO:0044331), cell-cell junction organization (GO:0045216), positive regulation of transcription by RNA polymerase II (GO:0045944), intracellular distribution of mitochondria (GO:0048312), establishment of localization in cell (GO:0051649), localization of cell (GO:0051674), axon development (GO:0061564), type B pancreatic cell maturation (GO:0072560), cell differentiation (GO:0030154)
GO Molecular Function (9): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), identical protein binding (GO:0042802), protein dimerization activity (GO:0046983), E-box binding (GO:0070888), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Developmental Cell Lineages of the Exocrine Pancreas | 1 |
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| protein binding | 2 |
| glandular epithelial cell development | 1 |
| columnar/cuboidal epithelial cell maturation | 1 |
| calcium ion transmembrane transport | 1 |
| organelle organization | 1 |
| endomembrane system organization | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| cell communication | 1 |
| signaling | 1 |
| animal organ development | 1 |
| regulation of myotube differentiation | 1 |
| myotube differentiation | 1 |
| negative regulation of striated muscle cell differentiation | 1 |
| intracellular signaling cassette | 1 |
| cellular response to unfolded protein | 1 |
| response to endoplasmic reticulum stress | 1 |
| intracellular signal transduction | 1 |
| cellular response to starvation | 1 |
| carbohydrate homeostasis | 1 |
| cell-cell adhesion | 1 |
| cell junction organization | 1 |
| transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| mitochondrion distribution | 1 |
| establishment of localization | 1 |
| cellular localization | 1 |
| cellular process | 1 |
| localization | 1 |
| neuron projection development | 1 |
| epithelial cell maturation | 1 |
| type B pancreatic cell development | 1 |
| cellular developmental process | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| DNA-binding transcription factor activity, RNA polymerase II-specific | 1 |
| DNA-binding transcription activator activity | 1 |
| positive regulation of transcription by RNA polymerase II | 1 |
Protein interactions and networks
STRING
808 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BHLHA15 | XBP1 | P17861 | 662 |
| BHLHA15 | ATF6B | Q99941 | 662 |
| BHLHA15 | EDEM1 | Q92611 | 600 |
| BHLHA15 | TFF2 | Q03403 | 593 |
| BHLHA15 | MYOD1 | P15172 | 566 |
| BHLHA15 | CCK | P06307 | 545 |
| BHLHA15 | PIK3R2 | O00459 | 544 |
| BHLHA15 | ERN1 | O75460 | 515 |
| BHLHA15 | RBPJL | Q9UBG7 | 511 |
| BHLHA15 | CBLIF | P27352 | 505 |
| BHLHA15 | NR5A2 | O00482 | 479 |
| BHLHA15 | ATF6 | P18850 | 476 |
| BHLHA15 | AQP5 | P55064 | 464 |
| BHLHA15 | SOX9 | P48436 | 448 |
| BHLHA15 | MUC6 | Q6W4X9 | 432 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPL7A | NOP56 | psi-mi:“MI:0914”(association) | 0.640 |
| MYOG | BHLHA15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BHLHA15 | RPLP0 | psi-mi:“MI:0914”(association) | 0.530 |
| PARP12 | GCLM | psi-mi:“MI:0914”(association) | 0.530 |
| NHLH2 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| BHLHA15 | YBX3 | psi-mi:“MI:0914”(association) | 0.530 |
| ZCCHC9 | RPS3A | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3A | CBX6 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL19 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| CXCL11 | BHLHA15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PF4V1 | BHLHA15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BHLHA15 | CFTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| TCF4 | TRIM24 | psi-mi:“MI:0914”(association) | 0.350 |
| NEUROG3 | MYO9A | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS18B | GAPDHS | psi-mi:“MI:0914”(association) | 0.350 |
| BHLHA15 | RNASEH1 | psi-mi:“MI:0914”(association) | 0.350 |
| MRPS9 | SLC25A20 | psi-mi:“MI:0914”(association) | 0.350 |
| BHLHA15 | RAB26 | psi-mi:“MI:0914”(association) | 0.350 |
| BHLHA15 | RAB3D | psi-mi:“MI:0914”(association) | 0.350 |
| BHLHA15 | MYOG | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (102): BHLHA15 (Affinity Capture-MS), HIST1H1C (Affinity Capture-MS), CHCHD2 (Affinity Capture-MS), BHLHA15 (Affinity Capture-MS), FAF1 (Affinity Capture-MS), RNF41 (Affinity Capture-MS), PHF10 (Affinity Capture-MS), C1QBP (Affinity Capture-MS), HIST1H1T (Affinity Capture-MS), RPS27A (Affinity Capture-MS), BAG1 (Affinity Capture-MS), RBM23 (Affinity Capture-MS), PRDM10 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), LSM14B (Affinity Capture-MS)
ESM2 similar proteins: O60682, O88940, O96004, P10085, P17542, P22091, P24899, P27792, P48985, P57100, P59101, P70447, P70562, P70595, P70660, P70661, P79782, P97832, Q02346, Q02575, Q02577, Q0VCE2, Q12870, Q15672, Q28555, Q5E9S3, Q60539, Q60756, Q64124, Q64279, Q64305, Q66HH3, Q7JGP2, Q7RTS1, Q7RTU0, Q7RTU7, Q8BGW3, Q8MI06, Q8MIB9, Q8MID5
Diamond homologs: A3KNX5, O13125, O13126, O57598, P48985, P48987, P70661, Q10574, Q4ZHW1, Q5RJB0, Q7RTS1, Q7RTU4, Q7ZSX3, Q8AW52, Q8N100, Q923Z4, Q96RJ6, Q9QX98, Q9VGJ5, A8E5T6, B6VQA1, O09029, O09105, O16867, O35437, O42202, O42606, O43680, O45489, O88940, O96004, O96642, P10627, P13903, P46581, P48986, P57100, P57101, P57102, P59101
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 28 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 |
|---|---|---|---|
| Major pathway of rRNA processing in the nucleolus and cytosol | 5 | 13.4× | 7e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| translation | 5 | 19.0× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
272 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:98211497:AG:A | donor_loss | 0.9900 |
| 7:98211498:GG:G | donor_loss | 0.9900 |
| 7:98211499:GT:G | donor_loss | 0.9900 |
| 7:98211500:T:G | donor_loss | 0.9900 |
| 7:98212254:A:AG | acceptor_gain | 0.9900 |
| 7:98212255:G:GG | acceptor_gain | 0.9900 |
| 7:98212246:T:TA | acceptor_gain | 0.9800 |
| 7:98212255:GCTCC:G | acceptor_gain | 0.9700 |
| 7:98212247:G:A | acceptor_gain | 0.9600 |
| 7:98212251:TTCA:T | acceptor_loss | 0.9600 |
| 7:98212252:TCA:T | acceptor_loss | 0.9600 |
| 7:98212253:CAG:C | acceptor_loss | 0.9600 |
| 7:98212254:AGCT:A | acceptor_loss | 0.9600 |
| 7:98212255:G:C | acceptor_loss | 0.9600 |
| 7:98211499:G:GG | donor_gain | 0.9500 |
| 7:98211857:G:GG | donor_gain | 0.9500 |
| 7:98211891:C:G | donor_gain | 0.9500 |
| 7:98212255:GCTC:G | acceptor_gain | 0.9400 |
| 7:98212255:GCT:G | acceptor_gain | 0.9200 |
| 7:98211507:G:GT | donor_gain | 0.9100 |
| 7:98212252:TCAG:T | acceptor_gain | 0.9000 |
| 7:98212253:CAGC:C | acceptor_gain | 0.9000 |
| 7:98212256:CTCCA:C | acceptor_gain | 0.8900 |
| 7:98211854:G:GT | donor_gain | 0.8800 |
| 7:98212246:T:A | acceptor_loss | 0.8800 |
| 7:98212255:GC:G | acceptor_gain | 0.8700 |
| 7:98212254:AG:A | acceptor_gain | 0.8200 |
| 7:98211499:GTA:G | donor_gain | 0.8000 |
| 7:98211894:G:A | donor_gain | 0.7900 |
| 7:98212241:T:TA | acceptor_loss | 0.7900 |
AlphaMissense
1204 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:98212646:A:G | K113E | 1.000 |
| 7:98212648:G:C | K113N | 1.000 |
| 7:98212648:G:T | K113N | 1.000 |
| 7:98212659:T:A | L117H | 1.000 |
| 7:98212659:T:C | L117P | 1.000 |
| 7:98212559:G:A | E84K | 0.999 |
| 7:98212560:A:T | E84V | 0.999 |
| 7:98212561:G:C | E84D | 0.999 |
| 7:98212561:G:T | E84D | 0.999 |
| 7:98212563:G:C | R85P | 0.999 |
| 7:98212581:T:C | L91P | 0.999 |
| 7:98212592:T:C | F95L | 0.999 |
| 7:98212594:C:A | F95L | 0.999 |
| 7:98212594:C:G | F95L | 0.999 |
| 7:98212602:T:C | L98P | 0.999 |
| 7:98212644:C:T | S112F | 0.999 |
| 7:98212646:A:C | K113Q | 0.999 |
| 7:98212665:T:C | L119P | 0.999 |
| 7:98212667:G:C | A120P | 0.999 |
| 7:98212668:C:A | A120D | 0.999 |
| 7:98212689:T:C | L127P | 0.999 |
| 7:98212558:G:C | R83S | 0.998 |
| 7:98212558:G:T | R83S | 0.998 |
| 7:98212560:A:C | E84A | 0.998 |
| 7:98212569:G:C | R87P | 0.998 |
| 7:98212573:G:A | M88I | 0.998 |
| 7:98212573:G:C | M88I | 0.998 |
| 7:98212573:G:T | M88I | 0.998 |
| 7:98212584:A:T | N92I | 0.998 |
| 7:98212585:T:A | N92K | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000017888 (7:98211632 C>A,G), RS1000028315 (7:98209439 C>T), RS1000360363 (7:98215339 T>G), RS1000623505 (7:98209905 T>C), RS1002046459 (7:98213080 A>G), RS1002413487 (7:98211581 T>G), RS1002692179 (7:98215674 C>G,T), RS1002767325 (7:98215536 A>G), RS1003878610 (7:98211896 G>A), RS1004469037 (7:98210190 G>T), RS1005170162 (7:98214747 G>A), RS1005553861 (7:98215132 C>T), RS1005876262 (7:98215553 A>G), RS1006090269 (7:98211457 C>A,T), RS1006171397 (7:98213360 A>C)
Disease associations
OMIM: gene MIM:608606 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Particulate Matter | increases abundance, increases expression, decreases expression | 3 |
| (+)-JQ1 compound | decreases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Glyphosate | decreases expression | 1 |
| Aldrin | affects cotreatment, decreases expression | 1 |
| Hexachlorocyclohexane | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cisplatin | affects cotreatment, increases expression, decreases expression | 1 |
| Dichlorodiphenyldichloroethane | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | affects cotreatment, decreases expression | 1 |
| DDT | affects cotreatment, decreases expression | 1 |
| Dieldrin | affects cotreatment, decreases expression | 1 |
| Endrin | affects cotreatment, decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Glucose | affects expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 2,4-Dichlorophenoxyacetic Acid | decreases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Lactic Acid | decreases expression | 1 |
| Simvastatin | affects cotreatment, decreases expression | 1 |
| Genistein | increases expression | 1 |
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.