DRGX
gene geneOn this page
Also known as DRG11
Summary
DRGX (dorsal root ganglia homeobox, HGNC:21536) is a protein-coding gene on chromosome 10q11.23, encoding Dorsal root ganglia homeobox protein (A6NNA5). Transcription factor required for the formation of correct projections from nociceptive sensory neurons to the dorsal horn of the spinal cord and normal perception of pain.
Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including detection of temperature stimulus; nervous system development; and sensory perception of mechanical stimulus. Predicted to be located in chromatin.
Source: NCBI Gene 644168 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 4 total
- MANE Select transcript:
NM_001276451
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21536 |
| Approved symbol | DRGX |
| Name | dorsal root ganglia homeobox |
| Location | 10q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DRG11 |
| Ensembl gene | ENSG00000165606 |
| Ensembl biotype | protein_coding |
| OMIM | 606701 |
| Entrez | 644168 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000374139, ENST00000891545, ENST00000967011
RefSeq mRNA: 1 — MANE Select: NM_001276451
NM_001276451
CCDS: CCDS44388
Canonical transcript exons
ENST00000374139 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001094586 | 49386680 | 49386858 |
| ENSE00001094587 | 49386478 | 49386590 |
| ENSE00001094589 | 49390133 | 49390234 |
| ENSE00001189692 | 49391164 | 49391261 |
| ENSE00001462569 | 49364066 | 49366381 |
| ENSE00003753491 | 49395407 | 49395521 |
| ENSE00003753894 | 49395935 | 49396089 |
Expression profiles
Bgee: expression breadth broad, 46 present calls, max score 77.34.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3583 / max 428.4960, expressed in 48 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 109331 | 0.3583 | 48 |
Top tissues by expression
124 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 77.34 | silver quality |
| superior frontal gyrus | UBERON:0002661 | 60.94 | gold quality |
| prefrontal cortex | UBERON:0000451 | 59.30 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 59.09 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 58.76 | gold quality |
| frontal cortex | UBERON:0001870 | 58.68 | gold quality |
| right frontal lobe | UBERON:0002810 | 57.57 | gold quality |
| cerebral cortex | UBERON:0000956 | 53.00 | gold quality |
| rectum | UBERON:0001052 | 48.38 | gold quality |
| vermiform appendix | UBERON:0001154 | 48.24 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 48.17 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 47.37 | gold quality |
| right adrenal gland | UBERON:0001233 | 46.23 | gold quality |
| endometrium | UBERON:0001295 | 46.17 | gold quality |
| bone marrow | UBERON:0002371 | 44.79 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 44.73 | silver quality |
| primary visual cortex | UBERON:0002436 | 43.03 | silver quality |
| skin of leg | UBERON:0001511 | 42.83 | gold quality |
| adrenal gland | UBERON:0002369 | 42.66 | gold quality |
| bone marrow cell | CL:0002092 | 41.99 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 41.43 | gold quality |
| brain | UBERON:0000955 | 41.15 | gold quality |
| colonic epithelium | UBERON:0000397 | 41.14 | gold quality |
| zone of skin | UBERON:0000014 | 40.65 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 40.20 | silver quality |
| left adrenal gland | UBERON:0001234 | 40.08 | gold quality |
| gall bladder | UBERON:0002110 | 39.49 | silver quality |
| pituitary gland | UBERON:0000007 | 39.36 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 39.24 | silver quality |
| right hemisphere of cerebellum | UBERON:0014890 | 38.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.12 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| DRGX | |
| RGMB | Unknown |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA1481.1 | DRGX | Paired-related HD factors |
| MA1481.2 | DRGX | Paired-related HD factors |
| MA1940.1 | ETV2::DRGX | Ets-related::Paired-related HD factors |
| MA1940.2 | ETV2::DRGX | Ets-related::Paired-related HD factors |
| MA1944.1 | ETV5::DRGX | Ets-related::Paired-related HD factors |
| MA1944.2 | ETV5::DRGX | Ets-related::Paired-related HD factors |
| MA1949.1 | FLI1::DRGX | Paired-related HD factors::Ets-related |
| MA1949.2 | FLI1::DRGX | Paired-related HD factors::Ets-related |
JASPAR matrix evidence (PMIDs): PMID:25131932, PMID:24218641
Upstream regulators (CollecTRI, top): DRGX
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | drgx | ENSDARG00000069329 |
| mus_musculus | Drgx | ENSMUSG00000041730 |
| rattus_norvegicus | Drgx | ENSRNOG00000020045 |
Paralogs (50): ARX (ENSG00000004848), PAX6 (ENSG00000007372), PAX7 (ENSG00000009709), ALX4 (ENSG00000052850), GSC2 (ENSG00000063515), PITX1 (ENSG00000069011), PAX2 (ENSG00000075891), RHOXF1 (ENSG00000101883), CRX (ENSG00000105392), EVX1 (ENSG00000106038), PAX4 (ENSG00000106331), NOBOX (ENSG00000106410), PITX3 (ENSG00000107859), PHOX2B (ENSG00000109132), OTX1 (ENSG00000115507), PRRX1 (ENSG00000116132), VSX2 (ENSG00000119614), ESX1 (ENSG00000123576), PAX8 (ENSG00000125618), PAX1 (ENSG00000125813), RHOXF2 (ENSG00000131721), GSC (ENSG00000133937), RAX (ENSG00000134438), PAX3 (ENSG00000135903), ALX3 (ENSG00000156150), HESX1 (ENSG00000163666), PITX2 (ENSG00000164093), UNCX (ENSG00000164853), PHOX2A (ENSG00000165462), OTX2 (ENSG00000165588), PRRX2 (ENSG00000167157), SHOX2 (ENSG00000168779), OTP (ENSG00000171540), RAX2 (ENSG00000173976), EVX2 (ENSG00000174279), PROP1 (ENSG00000175325), ISX (ENSG00000175329), ALX1 (ENSG00000180318), MIXL1 (ENSG00000185155), SHOX (ENSG00000185960)
Protein
Protein identifiers
Dorsal root ganglia homeobox protein — A6NNA5 (reviewed: A6NNA5)
Alternative names: Paired-related homeobox protein-like 1
All UniProt accessions (1): A6NNA5
UniProt curated annotations — full annotation on UniProt →
Function. Transcription factor required for the formation of correct projections from nociceptive sensory neurons to the dorsal horn of the spinal cord and normal perception of pain.
Subunit / interactions. Interacts with RGMB.
Subcellular location. Nucleus.
Similarity. Belongs to the paired homeobox family.
RefSeq proteins (1): NP_001263380* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001356 | HD | Domain |
| IPR003654 | OAR_dom | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR050649 | Paired_Homeobox_TFs | Family |
Pfam: PF00046, PF03826
UniProt features (9 total): compositionally biased region 4, region of interest 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-A6NNA5-F1 | 67.75 | 0.24 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 60 (showing top):
GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_NEUROGENESIS, GOBP_CRANIAL_NERVE_DEVELOPMENT, GOBP_DETECTION_OF_TEMPERATURE_STIMULUS, GOBP_NERVE_DEVELOPMENT, GOBP_NEURON_MIGRATION, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_DORSAL_SPINAL_CORD_DEVELOPMENT, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED
GO Biological Process (13): neuron migration (GO:0001764), regulation of transcription by RNA polymerase II (GO:0006357), axon guidance (GO:0007411), detection of chemical stimulus (GO:0009593), detection of temperature stimulus (GO:0016048), dorsal spinal cord development (GO:0021516), trigeminal nerve development (GO:0021559), neuron development (GO:0048666), sensory perception of mechanical stimulus (GO:0050954), regulation of DNA-templated transcription (GO:0006355), nervous system development (GO:0007399), axonogenesis (GO:0007409), neuron differentiation (GO:0030182)
GO Molecular Function (4): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| generation of neurons | 2 |
| cell migration | 1 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| axonogenesis | 1 |
| neuron projection guidance | 1 |
| response to chemical | 1 |
| detection of stimulus | 1 |
| response to temperature stimulus | 1 |
| detection of external stimulus | 1 |
| detection of abiotic stimulus | 1 |
| spinal cord development | 1 |
| anatomical structure development | 1 |
| cranial nerve development | 1 |
| neuron differentiation | 1 |
| cell development | 1 |
| sensory perception | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| system development | 1 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| cell differentiation | 1 |
| transcription cis-regulatory region binding | 1 |
| chromatin | 1 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| chromosome | 1 |
| cellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
566 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DRGX | RGMB | Q6NW40 | 878 |
| DRGX | RGMA | Q96B86 | 861 |
| DRGX | HJV | Q6ZVN8 | 651 |
| DRGX | ERCC6 | Q03468 | 583 |
| DRGX | PRDM12 | Q9H4Q4 | 575 |
| DRGX | POU4F1 | Q01851 | 491 |
| DRGX | NGF | P01138 | 426 |
| DRGX | NOG | Q13253 | 425 |
| DRGX | BMP4 | P12644 | 421 |
| DRGX | BMP2 | P12643 | 409 |
| DRGX | TPRX1 | Q8N7U7 | 403 |
| DRGX | E2F3 | O00716 | 390 |
| DRGX | LRRC18 | Q8N456 | 383 |
| DRGX | ZMAT1 | Q5H9K5 | 379 |
| DRGX | SKOR2 | Q2VWA4 | 379 |
IntAct
0 interactions, top by confidence:
ESM2 similar proteins: A0A1W2PPF3, A1A546, A1YGA4, A2T779, A2T7T2, A5YC49, A6NFQ7, A6NMT0, A6NNA5, F1Q4R9, O08686, O42173, O42358, P17278, P17482, P20615, P31272, P43688, P52950, P70368, P70436, P97436, P97458, Q01703, Q28ET4, Q2M1V0, Q3LU38, Q3LU39, Q3LU40, Q5NSW5, Q5TIS6, Q5TM83, Q61658, Q62798, Q80Z64, Q8BYH0, Q8JJ26, Q8MJI9, Q91926, Q92988
Diamond homologs: A0A1W2PPF3, A1YEY5, A1YFI3, A1YG57, A2T733, A2T7P4, A6NLW8, A6NNA5, F1NEA7, G5EBU4, G5EDS1, O18381, O35137, O35160, O42250, O43186, O43316, O43812, O54751, O70137, O73917, O75360, O75364, O95076, P09088, P0CJ85, P0CJ86, P0CJ87, P0CJ88, P0CJ89, P0CJ90, P21711, P22810, P26367, P26630, P29454, P32242, P32243, P34764, P34765
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
4 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 2 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1165 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:49386586:CCAGG:C | acceptor_gain | 1.0000 |
| 10:49386587:CAGGC:C | acceptor_gain | 1.0000 |
| 10:49386676:TCA:T | donor_loss | 1.0000 |
| 10:49386679:C:CT | donor_loss | 1.0000 |
| 10:49386679:CCT:C | donor_gain | 1.0000 |
| 10:49388959:AC:A | donor_gain | 1.0000 |
| 10:49388960:CC:C | donor_gain | 1.0000 |
| 10:49390127:GTTTA:G | donor_loss | 1.0000 |
| 10:49390128:TTTAC:T | donor_loss | 1.0000 |
| 10:49390129:TTAC:T | donor_loss | 1.0000 |
| 10:49390130:TACCT:T | donor_loss | 1.0000 |
| 10:49390131:A:AT | donor_loss | 1.0000 |
| 10:49390231:CCAG:C | acceptor_gain | 1.0000 |
| 10:49390232:CAG:C | acceptor_gain | 1.0000 |
| 10:49390232:CAGC:C | acceptor_gain | 1.0000 |
| 10:49390235:C:CC | acceptor_gain | 1.0000 |
| 10:49390238:G:C | acceptor_gain | 1.0000 |
| 10:49390238:G:GC | acceptor_gain | 1.0000 |
| 10:49366378:CCCC:C | acceptor_gain | 0.9900 |
| 10:49366379:CCC:C | acceptor_gain | 0.9900 |
| 10:49366379:CCCC:C | acceptor_gain | 0.9900 |
| 10:49366380:CC:C | acceptor_gain | 0.9900 |
| 10:49366380:CCC:C | acceptor_gain | 0.9900 |
| 10:49366381:CC:C | acceptor_gain | 0.9900 |
| 10:49386587:CAGG:C | acceptor_gain | 0.9900 |
| 10:49386589:GG:G | acceptor_gain | 0.9900 |
| 10:49386591:C:CC | acceptor_gain | 0.9900 |
| 10:49386701:T:TA | donor_gain | 0.9900 |
| 10:49386709:A:AC | donor_gain | 0.9900 |
| 10:49386710:C:CC | donor_gain | 0.9900 |
AlphaMissense
1707 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:49366282:A:G | L209P | 1.000 |
| 10:49386826:C:A | R89S | 1.000 |
| 10:49386826:C:G | R89S | 1.000 |
| 10:49386827:C:A | R89M | 1.000 |
| 10:49386827:C:G | R89T | 1.000 |
| 10:49386832:T:A | K87N | 1.000 |
| 10:49386832:T:G | K87N | 1.000 |
| 10:49386833:T:A | K87I | 1.000 |
| 10:49386834:T:C | K87E | 1.000 |
| 10:49386836:G:T | A86D | 1.000 |
| 10:49386837:C:G | A86P | 1.000 |
| 10:49386838:C:A | R85S | 1.000 |
| 10:49386838:C:G | R85S | 1.000 |
| 10:49386839:C:A | R85M | 1.000 |
| 10:49386839:C:G | R85T | 1.000 |
| 10:49386840:T:C | R85G | 1.000 |
| 10:49386841:T:A | R84S | 1.000 |
| 10:49386841:T:G | R84S | 1.000 |
| 10:49386842:C:A | R84I | 1.000 |
| 10:49386842:C:G | R84T | 1.000 |
| 10:49386843:T:C | R84G | 1.000 |
| 10:49386844:G:C | N83K | 1.000 |
| 10:49386844:G:T | N83K | 1.000 |
| 10:49386845:T:A | N83I | 1.000 |
| 10:49386845:T:C | N83S | 1.000 |
| 10:49386845:T:G | N83T | 1.000 |
| 10:49386846:T:C | N83D | 1.000 |
| 10:49386846:T:G | N83H | 1.000 |
| 10:49386847:C:A | Q82H | 1.000 |
| 10:49386847:C:G | Q82H | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000092203 (10:49394607 C>T), RS1000113564 (10:49394888 G>A,T), RS1000136808 (10:49379116 CA>C,CAA), RS1000184475 (10:49368280 G>A), RS1000223513 (10:49388503 A>C), RS1000281866 (10:49383187 C>T), RS1000486017 (10:49378845 G>A), RS1000509674 (10:49378537 C>T), RS1000635172 (10:49372690 C>A), RS1000728317 (10:49372953 G>A), RS1000887736 (10:49383573 T>C), RS1000909349 (10:49389336 A>G), RS1000943126 (10:49378785 A>G), RS1001134511 (10:49393444 T>C), RS1001183153 (10:49369210 T>G)
Disease associations
OMIM: gene MIM:606701 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001371_12 | Inflammatory biomarkers | 1.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
11 total (human), top 11 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| methyleugenol | decreases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| tebuconazole | decreases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | decreases expression | 1 |
| Okadaic Acid | decreases 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.