HOXA3
gene geneOn this page
Summary
HOXA3 (homeobox A3, HGNC:5104) is a protein-coding gene on chromosome 7p15.2, encoding Homeobox protein Hox-A3 (O43365). Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. Three transcript variants encoding two different isoforms have been found for this gene.
Source: NCBI Gene 3200 — RefSeq curated summary.
At a glance
- GWAS associations: 23
- Clinical variants (ClinVar): 185 total — 1 likely-pathogenic
- MANE Select transcript:
NM_153631
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5104 |
| Approved symbol | HOXA3 |
| Name | homeobox A3 |
| Location | 7p15.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000105997 |
| Ensembl biotype | protein_coding |
| OMIM | 142954 |
| Entrez | 3200 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 14 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000317201, ENST00000396352, ENST00000521401, ENST00000522456, ENST00000522788, ENST00000612286, ENST00000851228, ENST00000851229, ENST00000851230, ENST00000851231, ENST00000851232, ENST00000851233, ENST00000851234, ENST00000851235, ENST00000956341
RefSeq mRNA: 14 — MANE Select: NM_153631
NM_001384335, NM_001384336, NM_001384337, NM_001384338, NM_001384339, NM_001384340, NM_001384341, NM_001384342, NM_001384343, NM_001384344, NM_001384345, NM_001384346, NM_030661, NM_153631
CCDS: CCDS5404
Canonical transcript exons
ENST00000612286 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001217611 | 27122559 | 27122642 |
| ENSE00001379700 | 27110115 | 27110760 |
| ENSE00002123384 | 27126886 | 27127070 |
| ENSE00002139109 | 27152288 | 27152583 |
| ENSE00003708019 | 27140083 | 27140186 |
| ENSE00003729804 | 27107010 | 27108720 |
Expression profiles
Bgee: expression breadth ubiquitous, 192 present calls, max score 93.50.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.6638 / max 157.5535, expressed in 1044 samples.
FANTOM5 promoters (18 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 83298 | 3.0399 | 590 |
| 83264 | 0.9758 | 357 |
| 83296 | 0.6912 | 357 |
| 83286 | 0.3491 | 153 |
| 83267 | 0.3175 | 170 |
| 83262 | 0.2102 | 112 |
| 83269 | 0.1323 | 73 |
| 83273 | 0.1301 | 69 |
| 83266 | 0.1255 | 57 |
| 83287 | 0.1048 | 49 |
Top tissues by expression
268 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| caput epididymis | UBERON:0004358 | 93.50 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.51 | gold quality |
| right uterine tube | UBERON:0001302 | 89.52 | gold quality |
| left uterine tube | UBERON:0001303 | 88.29 | gold quality |
| parietal pleura | UBERON:0002400 | 87.63 | gold quality |
| metanephros cortex | UBERON:0010533 | 87.38 | gold quality |
| renal medulla | UBERON:0000362 | 86.60 | gold quality |
| tibia | UBERON:0000979 | 86.55 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 85.85 | gold quality |
| visceral pleura | UBERON:0002401 | 85.31 | gold quality |
| pleura | UBERON:0000977 | 85.28 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 85.07 | gold quality |
| mucosa of stomach | UBERON:0001199 | 85.05 | gold quality |
| transverse colon | UBERON:0001157 | 84.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.85 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 84.75 | gold quality |
| lower esophagus | UBERON:0013473 | 84.73 | gold quality |
| thoracic aorta | UBERON:0001515 | 83.85 | gold quality |
| ascending aorta | UBERON:0001496 | 83.58 | gold quality |
| buccal mucosa cell | CL:0002336 | 83.09 | gold quality |
| body of uterus | UBERON:0009853 | 82.73 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 82.24 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 82.09 | gold quality |
| aorta | UBERON:0000947 | 82.02 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 81.98 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 81.97 | gold quality |
| colonic mucosa | UBERON:0000317 | 81.86 | gold quality |
| cauda epididymis | UBERON:0004360 | 81.84 | gold quality |
| colon | UBERON:0001155 | 81.57 | gold quality |
| esophagus | UBERON:0001043 | 81.47 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 7.11 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| GATA2 | Unknown |
| MMP14 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA2119.1 | HOXA3 | HOX |
JASPAR matrix evidence (PMIDs): PMID:20079828
Upstream regulators (CollecTRI, top): MAFB
Literature-anchored findings (GeneRIF, showing 9)
- HOXA7, HOXB3, HOXA3, and HOXB13 expression levels changed during angiogenesis, sugessting these proteins might be involved in the angiogenesis of hMSCs. (PMID:17972163)
- aim of this work was to search for mutations in thyroid developmental candidate genes HOXA3, HOXB3, HOXD3 and PITX2 (PMID:24127533)
- we demonstrate that HOXA3 and HOXA5 genes are markedly upregulated when NAP1L3 is suppressed in umbilical cord blood (UCB) haematopoietic stem cells (HSCs). Taken together, our findings establish an important role for NAP1L3 in haematopoietic stem cells homeostasis and haematopoietic differentiation. (PMID:30046127)
- Study indicated that low HOXA3 expression may play a certain role in lung adenocarcinoma; however, its association with lung squamous cell carcinoma still requires further investigation. (PMID:30066858)
- Bioinformatics analysis of putative target mRNAs of miR3383p identified a direct binding site in the 3’untranslated of homeobox A3 (HOXA3). (PMID:31322185)
- ARID1B/SUB1-activated lncRNA HOXA-AS2 drives the malignant behaviour of hepatoblastoma through regulation of HOXA3. (PMID:33683826)
- Homeobox A3 and KDM6A cooperate in transcriptional control of aerobic glycolysis and glioblastoma progression. (PMID:36215227)
- HOXA3 functions as the on-off switch to regulate the development of hESC-derived third pharyngeal pouch endoderm through EPHB2-mediated Wnt pathway. (PMID:38259452)
- Upregulation of HOXA3 by isoform-specific Wilms tumour 1 drives chemotherapy resistance in acute myeloid leukaemia. (PMID:38867543)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hoxc3a | ENSDARG00000070339 |
| danio_rerio | hoxa3a | ENSDARG00000103862 |
| mus_musculus | Hoxa3 | ENSMUSG00000079560 |
| rattus_norvegicus | Hoxa3 | ENSRNOG00000006281 |
Paralogs (42): HOXA11 (ENSG00000005073), HOXC8 (ENSG00000037965), HOXA1 (ENSG00000105991), HOXA2 (ENSG00000105996), HOXA5 (ENSG00000106004), HOXA6 (ENSG00000106006), HOXA13 (ENSG00000106031), TLX1 (ENSG00000107807), HOXB6 (ENSG00000108511), TLX2 (ENSG00000115297), HOXB8 (ENSG00000120068), HOXB5 (ENSG00000120075), HOXB3 (ENSG00000120093), 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-A3 — O43365 (reviewed: O43365)
Alternative names: Homeobox protein Hox-1E
All UniProt accessions (3): O43365, E5RIJ8, F2Z3A4
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.
RefSeq proteins (14): NP_001371264, NP_001371265, NP_001371266, NP_001371267, NP_001371268, NP_001371269, NP_001371270, NP_001371271, NP_001371272, NP_001371273, NP_001371274, NP_001371275, NP_109377, NP_705895* (*=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 (14 total): compositionally biased region 5, region of interest 4, sequence variant 2, chain 1, DNA-binding region 1, short sequence motif 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O43365-F1 | 59.41 | 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: 299 (showing top):
GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, MULLIGHAN_NPM1_SIGNATURE_3_UP, BENPORATH_ES_WITH_H3K27ME3, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, RORA1_01, NKX25_02, TGCACTT_MIR519C_MIR519B_MIR519A, GCANCTGNY_MYOD_Q6, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_MORPHOGENESIS, GOBP_THYMUS_DEVELOPMENT, CREBP1_Q2, GOBP_CRANIAL_NERVE_MORPHOGENESIS
GO Biological Process (24): angiogenesis (GO:0001525), blood vessel remodeling (GO:0001974), regulation of transcription by RNA polymerase II (GO:0006357), calcium ion transport (GO:0006816), anterior/posterior pattern specification (GO:0009952), specification of animal organ position (GO:0010159), gene expression (GO:0010467), magnesium ion homeostasis (GO:0010960), glossopharyngeal nerve morphogenesis (GO:0021615), bone mineralization (GO:0030282), thyroid gland development (GO:0030878), thymus development (GO:0048538), animal organ formation (GO:0048645), embryonic skeletal system morphogenesis (GO:0048704), cartilage development (GO:0051216), phosphate ion homeostasis (GO:0055062), calcium ion homeostasis (GO:0055074), parathyroid gland development (GO:0060017), stem cell proliferation (GO:0072089), positive regulation of stem cell proliferation (GO:2000648), regulation of DNA-templated transcription (GO:0006355), cell population proliferation (GO:0008283), animal organ morphogenesis (GO:0009887), embryonic skeletal system development (GO:0048706)
GO Molecular Function (6): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), HMG box domain binding (GO:0071837), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein binding (GO:0005515)
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 |
|---|---|
| inorganic ion homeostasis | 3 |
| gland development | 3 |
| anatomical structure formation involved in morphogenesis | 2 |
| regulation of DNA-templated transcription | 2 |
| regionalization | 2 |
| animal organ morphogenesis | 2 |
| monoatomic cation homeostasis | 2 |
| endocrine system development | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| cellular anatomical structure | 2 |
| blood vessel morphogenesis | 1 |
| tissue remodeling | 1 |
| transcription by RNA polymerase II | 1 |
| metal ion transport | 1 |
| macromolecule biosynthetic process | 1 |
| glossopharyngeal nerve development | 1 |
| cranial nerve morphogenesis | 1 |
| ossification | 1 |
| biomineral tissue development | 1 |
| hematopoietic or lymphoid organ development | 1 |
| embryonic organ morphogenesis | 1 |
| skeletal system morphogenesis | 1 |
| embryonic skeletal system development | 1 |
| skeletal system development | 1 |
| animal organ development | 1 |
| connective tissue development | 1 |
| cell population proliferation | 1 |
| stem cell division | 1 |
| positive regulation of cell population proliferation | 1 |
| stem cell proliferation | 1 |
| regulation of stem cell proliferation | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| protein domain specific binding | 1 |
| nucleic acid binding | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 1 |
| binding | 1 |
Protein interactions and networks
STRING
1158 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HOXA3 | FOXN1 | O15353 | 648 |
| HOXA3 | HIRA | P54198 | 638 |
| HOXA3 | MEIS1 | O00470 | 615 |
| HOXA3 | PAX1 | P15863 | 610 |
| HOXA3 | PAX9 | P55771 | 521 |
| HOXA3 | HOXD8 | P13378 | 510 |
| HOXA3 | HOXD10 | P28358 | 507 |
| HOXA3 | HOXA9 | P31269 | 503 |
| HOXA3 | EYA1 | Q99502 | 503 |
| HOXA3 | HHEX | Q03014 | 497 |
| HOXA3 | HOXD9 | P28356 | 490 |
| HOXA3 | RARB | P10826 | 478 |
| HOXA3 | HOXA13 | P31271 | 476 |
| HOXA3 | HOXA6 | P31267 | 469 |
| HOXA3 | HOXA10 | P31260 | 446 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ARPC3 | HOXA3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HOXA3 | ARPC3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| HOXA3 | SEC23B | psi-mi:“MI:0915”(physical association) | 0.670 |
| SEC23B | HOXA3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| HOXA3 | BDNF | psi-mi:“MI:0915”(physical association) | 0.560 |
| TERF1 | HOXA3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HOXA3 | TINF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| POT1 | HOXA3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HOXA3 | PWP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HOXA3 | ALX4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZDHHC17 | HOXA3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GUSB | HOXA3 | psi-mi:“MI:0914”(association) | 0.350 |
| BMI1 | MEIS3P1 | psi-mi:“MI:0914”(association) | 0.350 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| ARPC3 | HOXA3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (21): ARPC3 (Two-hybrid), SEC23B (Two-hybrid), HOXA3 (Two-hybrid), HOXA3 (Two-hybrid), HOXA3 (Affinity Capture-MS), RCHY1 (PCA), ARPC3 (Two-hybrid), HOXA3 (Affinity Capture-MS), HOXA3 (Affinity Capture-RNA), HOXA3 (Affinity Capture-MS), HOXA3 (Affinity Capture-MS), HK2 (Co-localization), PKM (Co-localization), KDM6A (Affinity Capture-Western), HOXA3 (Affinity Capture-RNA)
ESM2 similar proteins: A1YFU7, A2AJK6, A2BH40, B2RWS6, D3YWE6, E9Q4N7, M9NEY8, O00512, O14497, O35126, O42368, O43365, O57401, P02831, P02833, P22810, P23441, P23512, P25822, P32182, P34545, P35582, P35583, P43698, P43699, P50220, P50901, P54258, P54259, P54269, P55317, Q06A37, Q08DG7, Q08E31, Q09472, Q0VCT9, Q10571, Q1KKX7, Q24248, Q24645
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
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
185 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 150 |
| Likely benign | 12 |
| Benign | 13 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4684972 | NM_153631.3(HOXA3):c.562C>T (p.Gln188Ter) | Likely pathogenic |
SpliceAI
1341 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:27108716:TTCGC:T | acceptor_gain | 1.0000 |
| 7:27108717:TCGC:T | acceptor_gain | 1.0000 |
| 7:27108718:CGC:C | acceptor_gain | 1.0000 |
| 7:27108718:CGCC:C | acceptor_gain | 1.0000 |
| 7:27108719:GC:G | acceptor_gain | 1.0000 |
| 7:27108719:GCC:G | acceptor_loss | 1.0000 |
| 7:27108720:CC:C | acceptor_gain | 1.0000 |
| 7:27108720:CCT:C | acceptor_loss | 1.0000 |
| 7:27108721:C:A | acceptor_loss | 1.0000 |
| 7:27108721:C:CC | acceptor_gain | 1.0000 |
| 7:27108722:T:A | acceptor_loss | 1.0000 |
| 7:27108724:C:CT | acceptor_gain | 1.0000 |
| 7:27108730:C:CT | acceptor_gain | 1.0000 |
| 7:27108731:A:T | acceptor_gain | 1.0000 |
| 7:27130113:CGTA:C | donor_loss | 1.0000 |
| 7:27130114:GTACC:G | donor_loss | 1.0000 |
| 7:27130116:A:AC | donor_gain | 1.0000 |
| 7:27130117:C:CA | donor_gain | 1.0000 |
| 7:27130117:CCG:C | donor_gain | 1.0000 |
| 7:27130117:CCGG:C | donor_gain | 1.0000 |
| 7:27142082:TTGT:T | acceptor_gain | 1.0000 |
| 7:27142083:TGT:T | acceptor_gain | 1.0000 |
| 7:27142083:TGTCT:T | acceptor_loss | 1.0000 |
| 7:27142084:GTC:G | acceptor_loss | 1.0000 |
| 7:27142086:C:A | acceptor_loss | 1.0000 |
| 7:27142086:C:CC | acceptor_gain | 1.0000 |
| 7:27145925:C:CT | acceptor_gain | 1.0000 |
| 7:27147303:CTTA:C | donor_loss | 1.0000 |
| 7:27147305:TACC:T | donor_loss | 1.0000 |
| 7:27147306:A:AC | donor_gain | 1.0000 |
AlphaMissense
2853 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:27108503:C:A | K248N | 1.000 |
| 7:27108503:C:G | K248N | 1.000 |
| 7:27108505:T:C | K248E | 1.000 |
| 7:27108506:T:A | K247N | 1.000 |
| 7:27108506:T:G | K247N | 1.000 |
| 7:27108507:T:A | K247I | 1.000 |
| 7:27108508:T:C | K247E | 1.000 |
| 7:27108512:C:A | K245N | 1.000 |
| 7:27108512:C:G | K245N | 1.000 |
| 7:27108513:T:A | K245M | 1.000 |
| 7:27108514:T:C | K245E | 1.000 |
| 7:27108514:T:G | K245Q | 1.000 |
| 7:27108515:C:A | M244I | 1.000 |
| 7:27108515:C:G | M244I | 1.000 |
| 7:27108515:C:T | M244I | 1.000 |
| 7:27108516:A:C | M244R | 1.000 |
| 7:27108516:A:G | M244T | 1.000 |
| 7:27108516:A:T | M244K | 1.000 |
| 7:27108519:C:G | R243P | 1.000 |
| 7:27108519:C:T | R243H | 1.000 |
| 7:27108520:G:A | R243C | 1.000 |
| 7:27108520:G:C | R243G | 1.000 |
| 7:27108520:G:T | R243S | 1.000 |
| 7:27108522:C:A | R242L | 1.000 |
| 7:27108522:C:G | R242P | 1.000 |
| 7:27108523:G:A | R242C | 1.000 |
| 7:27108523:G:C | R242G | 1.000 |
| 7:27108523:G:T | R242S | 1.000 |
| 7:27108524:A:C | N241K | 1.000 |
| 7:27108524:A:T | N241K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000045615 (7:27113619 G>C), RS1000079925 (7:27150131 G>C), RS1000231152 (7:27116735 C>G,T), RS1000241812 (7:27147143 C>G), RS1000312377 (7:27145740 C>A,T), RS1000349087 (7:27114969 A>T), RS1000370752 (7:27109679 T>C), RS1000381898 (7:27114478 C>G), RS1000446074 (7:27152626 A>G), RS1000474917 (7:27152416 C>A,G), RS1000494721 (7:27139340 C>CA), RS1000539675 (7:27134108 T>A), RS1000568883 (7:27108840 A>G), RS1000644918 (7:27115274 T>A), RS1000812872 (7:27151040 G>A)
Disease associations
OMIM: gene MIM:142954 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
23 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004279_39 | Systolic blood pressure | 9.000000e-24 |
| GCST004343_3 | Chronic venous disease | 3.000000e-07 |
| GCST004625_95 | Monocyte count | 1.000000e-12 |
| GCST006227_6 | Diastolic blood pressure | 1.000000e-08 |
| GCST006228_6 | Systolic blood pressure | 3.000000e-08 |
| GCST006229_1 | Hypertension | 2.000000e-09 |
| GCST006231_31 | Mean arterial pressure | 5.000000e-08 |
| GCST007703_97 | Systolic blood pressure | 2.000000e-06 |
| GCST007705_13 | Pulse pressure | 6.000000e-06 |
| GCST007707_55 | Hypertension | 5.000000e-06 |
| GCST90002388_22 | Lymphocyte count | 4.000000e-17 |
| GCST90002393_540 | Monocyte count | 6.000000e-15 |
| GCST90002407_545 | White blood cell count | 5.000000e-09 |
| GCST90020024_89 | A body shape index | 1.000000e-12 |
| GCST90020024_91 | A body shape index | 4.000000e-10 |
| GCST90020025_736 | Waist-to-hip ratio adjusted for BMI | 4.000000e-08 |
| GCST90020025_737 | Waist-to-hip ratio adjusted for BMI | 5.000000e-14 |
| GCST90020025_739 | Waist-to-hip ratio adjusted for BMI | 2.000000e-10 |
| GCST90020027_1338 | Waist-hip index | 2.000000e-08 |
| GCST90020027_1339 | Waist-hip index | 7.000000e-15 |
| GCST90020027_1341 | Waist-hip index | 5.000000e-11 |
| GCST90020029_860 | Waist circumference adjusted for body mass index | 4.000000e-12 |
| GCST90020029_861 | Waist circumference adjusted for body mass index | 9.000000e-09 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006335 | systolic blood pressure |
| EFO:0005091 | monocyte count |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006340 | mean arterial pressure |
| EFO:0005763 | pulse pressure measurement |
| EFO:0004587 | lymphocyte count |
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression, increases methylation, affects cotreatment, affects methylation | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 3 |
| Tretinoin | affects cotreatment, increases expression | 3 |
| S-(1,2-dichlorovinyl)cysteine | decreases expression, affects response to substance, increases expression | 2 |
| Nickel | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| lasiocarpine | decreases expression | 1 |
| lead acetate | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| nickel sulfate | increases expression | 1 |
| NCS 382 | decreases expression | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| cyproconazole | decreases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, affects methylation | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Gold | decreases expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | 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_A2X0 | SEES3-1V human HOXA3, clone1 | Embryonic stem cell | Male |
| CVCL_A2X1 | SEES3-1V human HOXA3, clone2 | Embryonic stem cell | Male |
| CVCL_A2X2 | SEES3-1V human HOXA3, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic venous insufficiency