HOXB3
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Summary
HOXB3 (homeobox B3, HGNC:5114) is a protein-coding gene on chromosome 17q21.32, encoding Homeobox protein Hox-B3 (P14651). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcription factor that is involved in development. Increased expression of this gene is associated with a distinct biologic subset of acute myeloid leukemia (AML).
Source: NCBI Gene 3213 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 69 total — 1 likely-pathogenic
- MANE Select transcript:
NM_001384749
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5114 |
| Approved symbol | HOXB3 |
| Name | homeobox B3 |
| Location | 17q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000120093 |
| Ensembl biotype | protein_coding |
| OMIM | 142966 |
| Entrez | 3213 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 15 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000311626, ENST00000460160, ENST00000464266, ENST00000465120, ENST00000470495, ENST00000471459, ENST00000472863, ENST00000476342, ENST00000478644, ENST00000489475, ENST00000490677, ENST00000498678, ENST00000552000, ENST00000866120, ENST00000866121, ENST00000969628, ENST00000969629, ENST00000969630
RefSeq mRNA: 6 — MANE Select: NM_001384749
NM_001330322, NM_001330323, NM_001384747, NM_001384749, NM_001384750, NM_002146
CCDS: CCDS11528, CCDS82153, CCDS82154
Canonical transcript exons
ENST00000498678 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001308078 | 48552027 | 48552632 |
| ENSE00001313825 | 48548870 | 48551181 |
| ENSE00001876537 | 48590125 | 48590241 |
| ENSE00003463498 | 48555531 | 48555618 |
| ENSE00003472376 | 48573837 | 48574014 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 98.71.
FANTOM5 (CAGE): breadth broad, TPM avg 2.0916 / max 116.2189, expressed in 500 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 166682 | 1.1012 | 241 |
| 166683 | 0.4094 | 162 |
| 166680 | 0.3893 | 254 |
| 166681 | 0.1917 | 103 |
Top tissues by expression
271 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.71 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.33 | gold quality |
| caput epididymis | UBERON:0004358 | 97.76 | gold quality |
| seminal vesicle | UBERON:0000998 | 97.27 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.13 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.76 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.87 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.29 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.07 | gold quality |
| sigmoid colon | UBERON:0001159 | 93.37 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 93.30 | gold quality |
| lower esophagus | UBERON:0013473 | 93.27 | gold quality |
| diaphragm | UBERON:0001103 | 92.32 | silver quality |
| transverse colon | UBERON:0001157 | 92.10 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 91.89 | gold quality |
| type B pancreatic cell | CL:0000169 | 91.80 | silver quality |
| endometrium | UBERON:0001295 | 91.60 | gold quality |
| colon | UBERON:0001155 | 91.16 | gold quality |
| rectum | UBERON:0001052 | 90.96 | gold quality |
| large intestine | UBERON:0000059 | 90.76 | gold quality |
| fallopian tube | UBERON:0003889 | 90.59 | gold quality |
| olfactory bulb | UBERON:0002264 | 90.58 | silver quality |
| renal medulla | UBERON:0000362 | 90.37 | gold quality |
| intestine | UBERON:0000160 | 90.36 | gold quality |
| left uterine tube | UBERON:0001303 | 89.88 | gold quality |
| vena cava | UBERON:0004087 | 89.78 | gold quality |
| small intestine | UBERON:0002108 | 89.50 | gold quality |
| omental fat pad | UBERON:0010414 | 89.48 | gold quality |
| peritoneum | UBERON:0002358 | 89.47 | gold quality |
| oviduct epithelium | UBERON:0004804 | 89.38 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 22.82 |
| E-HCAD-10 | yes | 17.71 |
| E-ANND-3 | yes | 7.21 |
| E-CURD-135 | no | 892.18 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
9 targets.
| Target | Regulation |
|---|---|
| CDCA3 | Unknown |
| DNMT3B | |
| FOXA2 | Unknown |
| HOXB1 | |
| HOXB2 | |
| NKX2-1 | Activation |
| OTX2 | Activation |
| TG | |
| TTF1 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0903.1 | HOXB3 | HOX |
| MA0903.2 | HOXB3 | HOX |
JASPAR matrix evidence (PMIDs): PMID:18585359
Upstream regulators (CollecTRI, top): ARID4B, EGR2, ETS1, FOXA2, HOXB2, MAFB
Literature-anchored findings (GeneRIF, showing 19)
- Data report novel nucleoporin 98 fusions with homeobox (HOX)A10, HOXB3 and HOXB4, and describe the results of coexpression of these proteins with the Hox cofactor Meis1 in leukemic induction. (PMID:14966272)
- The HOXb3 was only weakly expressed in the inv(7) positive patients. (PMID:15674412)
- HOXA7, HOXB3, HOXA3, and HOXB13 expression levels changed during angiogenesis, sugessting these proteins might be involved in the angiogenesis of hMSCs. (PMID:17972163)
- Data show that inducible Hox genes are selectively sensitive to the inhibition of actin polymerization and that actin polymerization is required for the assembly of a transcription complex on the regulatory region of the Hox genes. (PMID:19477923)
- RASSF1A silencing strongly correlates with overexpression of HOXB3 and DNMT3B. (PMID:19854132)
- HoxB3 promote prostate cancer progression by upregulating CDCA3 expression. (PMID:23219899)
- describe familial cases of TH in two generations (proband and his father), in addition to other two sporadic cases. We have found polymorphisms in the HOXB3, HOXD3, and a new synonymous variant, and PITX2 genes (PMID:24127533)
- decreased methylation at HOXB3 and HOXB4 was associated with increased gene expression of both HOXB genes specific to the mid-risk AML, while increased DNA methylation at DCC distinctive to the high-risk AML was associated with increased gene expression (PMID:25996682)
- HOXB2 and HOXB3 act as tumor suppressors in acute myeloid leukemia patients carrying the FLT3 protein mutations. (PMID:26482852)
- miR-10b might control cell apoptosis, proliferation, migration, and invasion in endometrial cancer via regulation of HOXB3 expression. (PMID:27447302)
- HOXB3 is degraded by miR-375 in breast cancer cells.HOXB3 plays role in tamoxifen resistance. (PMID:28075453)
- HOXA4/HOXB3 gene expression-based risk score may be useful for prognostic risk stratification and warrants prospective validation in HGSOC patients. (PMID:29402501)
- Data indicate a miR-375-HOXB3-CDCA3/DNMT3B regulatory circuitry which contributes to leukemogenesis and suggest a therapeutic strategy of restoring miR-375 expression in Acute myeloid leukemia (AML). (PMID:29439669)
- miR-7 Reduces High Glucose Induced-damage Via HoxB3 and PI3K/AKT/mTOR Signaling Pathways in Retinal Pigment Epithelial Cells. (PMID:31702491)
- Levels of serum Hoxb3 and sFlt-1 in pre-eclamptic patients and their effects on pregnancy outcomes. (PMID:32748508)
- CSF levels of HoxB3 and YKL-40 may predict conversion from clinically isolated syndrome to relapsing remitting multiple sclerosis. (PMID:33352356)
- Extracellular Vesicle-Encapsulated MicroRNA-375 from Bone Marrow-Derived Mesenchymal Stem Cells Inhibits Hepatocellular Carcinoma Progression through Regulating HOXB3-Mediated Wnt/beta-Catenin Pathway. (PMID:35127344)
- HOXB3 drives WNT-activation associated progression in castration-resistant prostate cancer. (PMID:36973255)
- Sequential gene expression analysis of myelodysplastic syndrome transformation identifies HOXB3 and HOXB7 as the novel targets for mesenchymal cells in disease. (PMID:38254070)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hoxb3a | ENSDARG00000029263 |
| mus_musculus | Hoxb3 | ENSMUSG00000048763 |
| rattus_norvegicus | Hoxb3 | ENSRNOG00000008313 |
Paralogs (42): HOXA11 (ENSG00000005073), HOXC8 (ENSG00000037965), HOXA1 (ENSG00000105991), HOXA2 (ENSG00000105996), HOXA3 (ENSG00000105997), HOXA5 (ENSG00000106004), HOXA6 (ENSG00000106006), HOXA13 (ENSG00000106031), TLX1 (ENSG00000107807), HOXB6 (ENSG00000108511), TLX2 (ENSG00000115297), HOXB8 (ENSG00000120068), HOXB5 (ENSG00000120075), HOXB1 (ENSG00000120094), HOXA7 (ENSG00000122592), HOXC13 (ENSG00000123364), HOXC11 (ENSG00000123388), HOXC12 (ENSG00000123407), HOXD1 (ENSG00000128645), HOXD3 (ENSG00000128652), HOXD9 (ENSG00000128709), HOXD10 (ENSG00000128710), HOXD11 (ENSG00000128713), HOXD13 (ENSG00000128714), PDX1 (ENSG00000139515), HOXB13 (ENSG00000159184), TLX3 (ENSG00000164438), HOXD4 (ENSG00000170166), HOXD12 (ENSG00000170178), HOXB9 (ENSG00000170689), HOXC5 (ENSG00000172789), HOXB2 (ENSG00000173917), HOXD8 (ENSG00000175879), GSX2 (ENSG00000180613), HOXC9 (ENSG00000180806), HOXC10 (ENSG00000180818), HOXB4 (ENSG00000182742), HOXA4 (ENSG00000197576), HOXC6 (ENSG00000197757), HOXC4 (ENSG00000198353)
Protein
Protein identifiers
Homeobox protein Hox-B3 — P14651 (reviewed: P14651)
Alternative names: Homeobox protein Hox-2.7, Homeobox protein Hox-2G
All UniProt accessions (4): C9J2I3, P14651, F8VXG0, F8W1L2
UniProt curated annotations — full annotation on UniProt →
Function. Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Subcellular location. Nucleus.
Similarity. Belongs to the Antp homeobox family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P14651-1 | 1 | yes |
| P14651-2 | 2 | |
| P14651-3 | 3 |
RefSeq proteins (6): NP_001317251, NP_001317252, NP_001371676, NP_001371678, NP_001371679, NP_002137 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR001827 | Homeobox_Antennapedia_CS | Conserved_site |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR020479 | HD_metazoa | Domain |
| IPR025281 | DUF4074 | Domain |
Pfam: PF00046, PF13293
UniProt features (17 total): compositionally biased region 5, region of interest 4, splice variant 2, sequence conflict 2, chain 1, DNA-binding region 1, sequence variant 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P14651-F1 | 58.35 | 0.15 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5617472 | Activation of anterior HOX genes in hindbrain development during early embryogenesis |
MSigDB gene sets: 265 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, VALK_AML_WITH_FLT3_ITD, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, MULLIGHAN_NPM1_SIGNATURE_3_UP, YAATNRNNNYNATT_UNKNOWN, BENPORATH_ES_WITH_H3K27ME3, HNF3ALPHA_Q6, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, RORA1_01, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT
GO Biological Process (15): negative regulation of transcription by RNA polymerase II (GO:0000122), angiogenesis (GO:0001525), hematopoietic progenitor cell differentiation (GO:0002244), regulation of transcription by RNA polymerase II (GO:0006357), anterior/posterior pattern specification (GO:0009952), rhombomere development (GO:0021546), glossopharyngeal nerve morphogenesis (GO:0021615), thyroid gland development (GO:0030878), positive regulation of transcription by RNA polymerase II (GO:0045944), embryonic skeletal system morphogenesis (GO:0048704), regulation of neurogenesis (GO:0050767), cartilage development (GO:0051216), definitive hemopoiesis (GO:0060216), face development (GO:0060324), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (5): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700)
GO Cellular Component (3): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Activation of HOX genes during differentiation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 3 |
| transcription by RNA polymerase II | 3 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 3 |
| hemopoiesis | 2 |
| regulation of DNA-templated transcription | 2 |
| anatomical structure development | 2 |
| cellular anatomical structure | 2 |
| negative regulation of DNA-templated transcription | 1 |
| blood vessel morphogenesis | 1 |
| anatomical structure formation involved in morphogenesis | 1 |
| cell differentiation | 1 |
| regionalization | 1 |
| hindbrain development | 1 |
| glossopharyngeal nerve development | 1 |
| cranial nerve morphogenesis | 1 |
| endocrine system development | 1 |
| gland development | 1 |
| positive regulation of DNA-templated transcription | 1 |
| embryonic organ morphogenesis | 1 |
| skeletal system morphogenesis | 1 |
| embryonic skeletal system development | 1 |
| neurogenesis | 1 |
| regulation of nervous system development | 1 |
| regulation of cell development | 1 |
| skeletal system development | 1 |
| animal organ development | 1 |
| connective tissue development | 1 |
| head development | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| cis-regulatory region sequence-specific DNA binding | 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 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
Protein interactions and networks
STRING
938 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HOXB3 | MEIS1 | O00470 | 776 |
| HOXB3 | PBX1 | P40424 | 629 |
| HOXB3 | MEIS2 | O14770 | 604 |
| HOXB3 | EZH1 | Q92800 | 603 |
| HOXB3 | RASSF1 | Q9NS23 | 547 |
| HOXB3 | HOXB9 | P17482 | 535 |
| HOXB3 | DNMT3B | Q9UBC3 | 505 |
| HOXB3 | FOXF1 | Q12946 | 504 |
| HOXB3 | MOAP1 | Q96BY2 | 497 |
| HOXB3 | PAX1 | P15863 | 485 |
| HOXB3 | YAP1 | P46937 | 482 |
| HOXB3 | FOXA2 | Q9Y261 | 477 |
| HOXB3 | RARB | P10826 | 460 |
| HOXB3 | NKX2-2 | O95096 | 459 |
| HOXB3 | FOS | P01100 | 435 |
IntAct
3 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HOXB3 | SDHA | psi-mi:“MI:0915”(physical association) | 0.400 |
| HOXB3 | PTX3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (10): SDHA (Proximity Label-MS), HOXB3 (Reconstituted Complex), FBLN5 (Affinity Capture-MS), DPP9 (Affinity Capture-MS), MIPEP (Affinity Capture-MS), PTX3 (Affinity Capture-MS), HOXB3 (Cross-Linking-MS (XL-MS)), HOXB3 (Cross-Linking-MS (XL-MS)), SDHA (Cross-Linking-MS (XL-MS)), HOXB3 (Reconstituted Complex)
ESM2 similar proteins: A1L2P5, A8DT10, O08656, O42368, O42370, O93353, P09014, P09022, P09026, P09027, P09089, P13545, P14651, P23682, P31249, P40657, P46692, P49639, P50574, P53773, P53774, P53775, P56178, Q1KKS7, Q1KKU6, Q1KKX7, Q1KL12, Q1KL13, Q1KL17, Q24248, Q24648, Q3V5Z9, Q4LDQ3, Q5NDM2, Q66IK1, Q6B3N0, Q6DCQ1, Q8AWZ2, Q91904, Q98877
Diamond homologs: A1L2P5, A1YER7, A1YF08, A1YFD8, A1YFY3, A1YG85, A2D4P8, A2D5I1, A2D5K9, A2D5Y4, A2T6X6, A2T756, A8DT10, A9L937, B0VXK3, O13074, O42365, O42367, O42368, O42370, O43364, O43365, O57374, O93353, P02830, P02831, P06798, P09013, P09014, P09016, P09019, P09020, P09021, P09026, P09027, P09067, P09070, P09074, P09079, P09080
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| HOXB3 | “up-regulates quantity by expression” | OTX2 | “transcriptional regulation” |
| HMGB1 | “up-regulates activity” | HOXB3 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
69 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 66 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 444852 | GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 | Likely pathogenic |
SpliceAI
3037 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:48551710:A:AC | donor_gain | 1.0000 |
| 17:48551711:A:C | donor_gain | 1.0000 |
| 17:48576783:C:CT | donor_gain | 1.0000 |
| 17:48576832:T:TA | donor_gain | 1.0000 |
| 17:48577017:TTTA:T | acceptor_gain | 1.0000 |
| 17:48577018:TTA:T | acceptor_gain | 1.0000 |
| 17:48577019:TA:T | acceptor_gain | 1.0000 |
| 17:48577020:AC:A | acceptor_loss | 1.0000 |
| 17:48577021:C:CA | acceptor_loss | 1.0000 |
| 17:48577021:C:CC | acceptor_gain | 1.0000 |
| 17:48577022:T:A | acceptor_loss | 1.0000 |
| 17:48577026:C:CT | acceptor_gain | 1.0000 |
| 17:48577028:C:CT | acceptor_gain | 1.0000 |
| 17:48577030:C:CT | acceptor_gain | 1.0000 |
| 17:48577032:C:CT | acceptor_gain | 1.0000 |
| 17:48577033:G:T | acceptor_gain | 1.0000 |
| 17:48590123:A:AC | donor_gain | 1.0000 |
| 17:48590123:ACTG:A | donor_gain | 1.0000 |
| 17:48590124:C:CA | donor_gain | 1.0000 |
| 17:48590124:CT:C | donor_gain | 1.0000 |
| 17:48590124:CTG:C | donor_gain | 1.0000 |
| 17:48590124:CTGC:C | donor_gain | 1.0000 |
| 17:48590124:CTGCG:C | donor_gain | 1.0000 |
| 17:48592452:CATAT:C | acceptor_gain | 1.0000 |
| 17:48592453:ATAT:A | acceptor_gain | 1.0000 |
| 17:48592454:TAT:T | acceptor_gain | 1.0000 |
| 17:48592455:AT:A | acceptor_gain | 1.0000 |
| 17:48592456:TCTGG:T | acceptor_loss | 1.0000 |
| 17:48592457:C:CA | acceptor_loss | 1.0000 |
| 17:48592457:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
2787 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:48550895:C:A | K245N | 1.000 |
| 17:48550895:C:G | K245N | 1.000 |
| 17:48550897:T:C | K245E | 1.000 |
| 17:48550898:C:A | K244N | 1.000 |
| 17:48550898:C:G | K244N | 1.000 |
| 17:48550899:T:A | K244M | 1.000 |
| 17:48550900:T:C | K244E | 1.000 |
| 17:48550904:C:A | K242N | 1.000 |
| 17:48550904:C:G | K242N | 1.000 |
| 17:48550905:T:A | K242M | 1.000 |
| 17:48550906:T:C | K242E | 1.000 |
| 17:48550906:T:G | K242Q | 1.000 |
| 17:48550907:C:A | M241I | 1.000 |
| 17:48550907:C:G | M241I | 1.000 |
| 17:48550907:C:T | M241I | 1.000 |
| 17:48550908:A:C | M241R | 1.000 |
| 17:48550908:A:G | M241T | 1.000 |
| 17:48550908:A:T | M241K | 1.000 |
| 17:48550911:C:G | R240P | 1.000 |
| 17:48550911:C:T | R240H | 1.000 |
| 17:48550912:G:A | R240C | 1.000 |
| 17:48550912:G:C | R240G | 1.000 |
| 17:48550912:G:T | R240S | 1.000 |
| 17:48550914:C:A | R239L | 1.000 |
| 17:48550914:C:G | R239P | 1.000 |
| 17:48550915:G:A | R239W | 1.000 |
| 17:48550915:G:C | R239G | 1.000 |
| 17:48550916:G:C | N238K | 1.000 |
| 17:48550916:G:T | N238K | 1.000 |
| 17:48550917:T:A | N238I | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000181354 (17:48575888 C>G), RS1000232979 (17:48580132 G>A), RS1000305549 (17:48574737 C>T), RS1000356113 (17:48552680 C>A,G), RS1000589283 (17:48558769 T>C,G), RS1000660499 (17:48557105 G>A,C), RS1000687660 (17:48590733 G>A), RS1000714454 (17:48586602 T>C), RS1000767432 (17:48551901 T>C), RS1000829001 (17:48591226 C>A,G), RS1000832381 (17:48581814 C>T), RS1000889261 (17:48588153 T>C), RS1000894890 (17:48553030 T>C), RS1000915444 (17:48557703 G>A), RS1000940087 (17:48559107 T>C)
Disease associations
OMIM: gene MIM:142966 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005235_14 | Hand grip strength | 4.000000e-12 |
| GCST005951_17 | Body mass index | 3.000000e-09 |
| GCST009685_24 | Hypertension | 2.000000e-09 |
| GCST010989_271 | Body size at age 10 | 8.000000e-11 |
| GCST90002384_417 | Hemoglobin | 2.000000e-14 |
| GCST90013442_30 | Keratoconus | 5.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006941 | grip strength measurement |
| EFO:0004340 | body mass index |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0004509 | hemoglobin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
44 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression, affects cotreatment | 3 |
| Tretinoin | affects cotreatment, increases expression, affects expression | 3 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 2 |
| Chir 99021 | affects cotreatment, increases expression, affects binding | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Nickel | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| ascorbate-2-phosphate | affects binding, affects cotreatment, increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| 4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid | affects cotreatment, increases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 3-nitrobenzanthrone | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 14-deoxy-11,12-didehydroandrographolide | increases expression | 1 |
| XAV939 | affects binding, affects cotreatment, increases expression | 1 |
| LDN 193189 | affects cotreatment, increases expression | 1 |
| 3-(4-pyridyl)-1H-indole | affects cotreatment, increases expression | 1 |
| EPZ004777 | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Ascorbic Acid | affects binding, affects cotreatment, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A2Y4 | SEES3-1V human HOXB3, clone1 | Embryonic stem cell | Male |
| CVCL_A2Y5 | SEES3-1V human HOXB3, clone2 | Embryonic stem cell | Male |
| CVCL_A2Y6 | SEES3-1V human HOXB3, 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.