DLX6
gene geneOn this page
Summary
DLX6 (distal-less homeobox 6, HGNC:2919) is a protein-coding gene on chromosome 7q21.3, encoding Homeobox protein DLX-6 (P56179).
This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7.
Source: NCBI Gene 1750 — RefSeq curated summary.
At a glance
- Gene–disease (curated): split hand-foot malformation (Supportive, GenCC) — +1 more curated relationship
- GWAS associations: 6
- Clinical variants (ClinVar): 112 total
- Phenotypes (HPO): 8
- Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
- MANE Select transcript:
NM_005222
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2919 |
| Approved symbol | DLX6 |
| Name | distal-less homeobox 6 |
| Location | 7q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000006377 |
| Ensembl biotype | protein_coding |
| OMIM | 600030 |
| Entrez | 1750 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000493273, ENST00000518156, ENST00000555308
RefSeq mRNA: 1 — MANE Select: NM_005222
NM_005222
CCDS: CCDS47647
Canonical transcript exons
ENST00000518156 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001230080 | 97009796 | 97011040 |
| ENSE00001613985 | 97005553 | 97006413 |
| ENSE00003553134 | 97007638 | 97007831 |
Expression profiles
Bgee: expression breadth ubiquitous, 144 present calls, max score 93.70.
FANTOM5 (CAGE): breadth broad, TPM avg 4.3388 / max 491.0346, expressed in 430 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 79783 | 1.1290 | 254 |
| 79785 | 1.0464 | 249 |
| 79782 | 0.6453 | 207 |
| 79784 | 0.5489 | 194 |
| 79788 | 0.3795 | 170 |
| 79790 | 0.2414 | 115 |
| 79786 | 0.1718 | 101 |
| 79789 | 0.0936 | 54 |
| 79787 | 0.0829 | 35 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| buccal mucosa cell | CL:0002336 | 93.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.97 | gold quality |
| endometrium | UBERON:0001295 | 81.10 | gold quality |
| nucleus accumbens | UBERON:0001882 | 79.50 | gold quality |
| caudate nucleus | UBERON:0001873 | 78.61 | gold quality |
| putamen | UBERON:0001874 | 77.81 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 76.43 | gold quality |
| oocyte | CL:0000023 | 73.52 | gold quality |
| sperm | CL:0000019 | 72.10 | gold quality |
| endothelial cell | CL:0000115 | 71.83 | silver quality |
| male germ cell | CL:0000015 | 70.80 | gold quality |
| placenta | UBERON:0001987 | 70.34 | gold quality |
| left testis | UBERON:0004533 | 69.16 | gold quality |
| right testis | UBERON:0004534 | 68.17 | gold quality |
| testis | UBERON:0000473 | 68.14 | gold quality |
| calcaneal tendon | UBERON:0003701 | 67.19 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 66.77 | gold quality |
| secondary oocyte | CL:0000655 | 66.40 | gold quality |
| prefrontal cortex | UBERON:0000451 | 65.71 | gold quality |
| ganglionic eminence | UBERON:0004023 | 64.83 | gold quality |
| tendon | UBERON:0000043 | 64.81 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 64.43 | gold quality |
| cingulate cortex | UBERON:0003027 | 64.39 | gold quality |
| tibia | UBERON:0000979 | 63.56 | gold quality |
| telencephalon | UBERON:0001893 | 62.10 | gold quality |
| uterus | UBERON:0000995 | 62.09 | gold quality |
| skin of leg | UBERON:0001511 | 61.58 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 60.85 | gold quality |
| lower lobe of lung | UBERON:0008949 | 60.67 | silver quality |
| neocortex | UBERON:0001950 | 60.32 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 16.69 |
| E-GEOD-93593 | yes | 7.19 |
| E-ANND-3 | yes | 4.75 |
| E-CURD-112 | no | 216.46 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| DLX5 | |
| RASSF1 |
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0882.1 | DLX6 | NK |
| MA0882.2 | DLX6 | NK |
JASPAR matrix evidence (PMIDs): PMID:9889271
Upstream regulators (CollecTRI, top): DLX1, DLX2, DLX5, MEF2C, TP63
miRNA regulators (miRDB)
92 targeting DLX6, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4715-3P | 99.98 | 66.03 | 670 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
Functional genomics
ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 19)
- In mice, Dlx6 acts as an intermediary between endothelin-1 signaling and transcription of the basic helix-loop-helix transcription factor dHAND during craniofacial morphogenesis. (PMID:11711438)
- In mice, deletion of Dlx5 and Dlx6 results in skull repatterning, including a homeotic transformation of the lower jaw into an upper jaw, and supports a model of patterning within branchial arches that relies on a nested pattern of Dlx gene expression. (PMID:12193642)
- single nucleotide polymorphisms in intron 1 of the DLX6 gene and in exon 4 of the PCLO gene are not in linkage disequilibrium with autism. (PMID:12707945)
- DLX5 and DLX6 are not imprinted in humans and are not likely to be direct targets of MeCP2 modulation. (PMID:17701895)
- Results describe the expression of DLX5 and DLX6 in autistic spectrum disorder patients in an attempt to identify potential abnormality of expression. (PMID:19195802)
- p63 binds to an enhancer element in the SHFM1 locus and this element controls expression of DLX6 and DLX5 which are important for limb development. (PMID:20808887)
- MDA-MB-231 breast neoplasms did not express DLX6 but the resulting bone/lung metastases did. (PMID:21108812)
- Two patients that have in common a p63-Dlx5/Dlx6 pathway dysregulation. (PMID:22342398)
- The duplicated region harbors only DLX5 and DLX6, which are known for their role in SHFM1. (PMID:23169702)
- Genome sequencing of the deletion breakpoints showed that the DLX5 and DLX6 genes are disomic but the putative DYNC1I1 exon 15 and 17 enhancers are deleted. (PMID:24459211)
- Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I. (PMID:25332435)
- The potential DLX6-AS1/miR-203a/MMP-2 pathway. (PMID:29145165)
- DLX6AS1 acting as a sponge for miR199a may serve a critical role in the development and progression of cervical cancer. (PMID:30535431)
- Knockdown of DLX6-AS1 inhibited cell proliferation, migration, invasion and promoted apoptosis by downregulating PRR11 expression and upregulating miR-144 in NSCLC. (PMID:30551440)
- The up-regulated lncRNA DLX6-AS1 in colorectal cancer promotes cell proliferation, invasion and migration via modulating PI3K/AKT/mTOR pathway. (PMID:31646562)
- DLX6 Antisense RNA 1 Modulates Glucose Metabolism and Cell Growth in Gastric Cancer by Targeting microRNA-4290. (PMID:32239379)
- Long non-coding RNA DLX6-AS1 mediates proliferation, invasion and apoptosis of endometrial cancer cells by recruiting p300/E2F1 in DLX6 promoter region. (PMID:32951317)
- DLX6 promotes cell proliferation and survival in oral squamous cell carcinoma. (PMID:33215805)
- Research progress of DLX6-AS1 in human cancers. (PMID:34508305)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dlx6a | ENSDARG00000042291 |
| mus_musculus | Dlx6 | ENSMUSG00000029754 |
| rattus_norvegicus | Dlx6 | ENSRNOG00000063630 |
Paralogs (9): DLX3 (ENSG00000064195), DLX5 (ENSG00000105880), DLX4 (ENSG00000108813), NANOG (ENSG00000111704), DLX2 (ENSG00000115844), DLX1 (ENSG00000144355), VENTX (ENSG00000151650), BSX (ENSG00000188909), NANOGP8 (ENSG00000255192)
Protein
Protein identifiers
Homeobox protein DLX-6 — P56179 (reviewed: P56179)
All UniProt accessions (2): P56179, G3V471
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus.
Similarity. Belongs to the distal-less homeobox family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P56179-1 | 1 | yes |
| P56179-2 | 2 | |
| P56179-3 | 3 |
RefSeq proteins (1): NP_005213* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000047 | HTH_motif | Conserved_site |
| IPR001356 | HD | Domain |
| IPR009057 | Homeodomain-like_sf | Homologous_superfamily |
| IPR017970 | Homeobox_CS | Conserved_site |
| IPR020479 | HD_metazoa | Domain |
| IPR050460 | Distal-less_Homeobox_TF | Family |
Pfam: PF00046
UniProt features (7 total): region of interest 2, splice variant 2, chain 1, DNA-binding region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P56179-F1 | 69.64 | 0.34 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8939902 | Regulation of RUNX2 expression and activity |
MSigDB gene sets: 134 (showing top):
GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EAR_DEVELOPMENT, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, GOBP_APPENDAGE_DEVELOPMENT, GOBP_EAR_MORPHOGENESIS, GOBP_HEAD_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT, KANG_IMMORTALIZED_BY_TERT_DN, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_SENSORY_ORGAN_MORPHOGENESIS, GOBP_EPITHELIAL_CELL_PROLIFERATION
GO Biological Process (13): skeletal system development (GO:0001501), regulation of transcription by RNA polymerase II (GO:0006357), nervous system development (GO:0007399), cell differentiation (GO:0030154), embryonic limb morphogenesis (GO:0030326), epithelial cell differentiation (GO:0030855), inner ear morphogenesis (GO:0042472), anatomical structure formation involved in morphogenesis (GO:0048646), embryonic skeletal system development (GO:0048706), positive regulation of epithelial cell proliferation (GO:0050679), roof of mouth development (GO:0060021), head development (GO:0060322), 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 factor activity (GO:0003700), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677)
GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Transcriptional regulation by RUNX2 | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| system development | 2 |
| regulation of DNA-templated transcription | 2 |
| anatomical structure development | 2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| transcription by RNA polymerase II | 1 |
| cellular developmental process | 1 |
| limb morphogenesis | 1 |
| embryonic appendage morphogenesis | 1 |
| cell differentiation | 1 |
| epithelium development | 1 |
| ear morphogenesis | 1 |
| embryonic morphogenesis | 1 |
| inner ear development | 1 |
| anatomical structure morphogenesis | 1 |
| developmental process | 1 |
| skeletal system development | 1 |
| chordate embryonic development | 1 |
| positive regulation of cell population proliferation | 1 |
| epithelial cell proliferation | 1 |
| regulation of epithelial cell proliferation | 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 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription cis-regulatory region binding | 1 |
| transcription regulator activity | 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
972 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DLX6 | SEM1 | Q6ZVN7 | 822 |
| DLX6 | MECP2 | P51608 | 741 |
| DLX6 | TP63 | Q9H3D4 | 723 |
| DLX6 | HAND2 | P61296 | 672 |
| DLX6 | BMP7 | P18075 | 655 |
| DLX6 | DYNC1I1 | O14576 | 653 |
| DLX6 | PEG10 | Q86TG7 | 633 |
| DLX6 | GAD1 | Q99259 | 622 |
| DLX6 | FBXW4 | P57775 | 552 |
| DLX6 | SLC32A1 | Q9H598 | 519 |
| DLX6 | WNT10B | O00744 | 501 |
| DLX6 | PEG3 | P78418 | 496 |
| DLX6 | LHX6 | Q9UPM6 | 492 |
| DLX6 | WNT3A | P56704 | 487 |
| DLX6 | MEF2C | Q06413 | 484 |
IntAct
8 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DLX6 | GIP | psi-mi:“MI:0915”(physical association) | 0.400 |
| DLX6 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CFTR | DLX6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GRHL1 | POLRMT | psi-mi:“MI:0914”(association) | 0.350 |
| DLX6 | SCGB2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| SP7 | IGF2BP3 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (37): DLX6 (Affinity Capture-MS), DLX6 (Proximity Label-MS), RNASEH2C (Affinity Capture-MS), ATG7 (Affinity Capture-MS), TTC9C (Affinity Capture-MS), C9orf142 (Affinity Capture-MS), SEMG2 (Affinity Capture-MS), SEMG1 (Affinity Capture-MS), XRCC1 (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), SUPT16H (Affinity Capture-MS), PARP2 (Affinity Capture-MS), CSTF1 (Affinity Capture-MS), SCGB2A1 (Affinity Capture-MS), CHMP1A (Affinity Capture-MS)
ESM2 similar proteins: A8XJD0, E7FDX5, F1R2J1, G5EC89, G5ECT8, L8E946, O13023, O93590, O97670, P09071, P17488, P20269, P23410, P23459, P26797, P29506, P34326, P42587, P49925, P53544, P53547, P54821, P56179, P63013, P63014, P70397, Q01704, Q03357, Q05437, Q08821, Q09604, Q0P4H6, Q0P4W6, Q22909, Q22910, Q2PYN8, Q503F2, Q504H8, Q623D4, Q6R3Q6
Diamond homologs: A1YF16, A1YG93, A2RU54, A2T764, A6NCS4, A6NHT5, G5EE18, M0R6D8, O02786, O35767, O42230, O57601, O60479, O70218, P10181, P13297, P15857, P19601, P20009, P23410, P28360, P28361, P28362, P35548, P35993, P40764, P42580, P42581, P43687, P43688, P48031, P50219, P50223, P50574, P50575, P50576, P50577, P52953, P53547, P53770
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 72 |
| Likely benign | 28 |
| Benign | 11 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
413 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:97007634:ACAG:A | acceptor_loss | 1.0000 |
| 7:97007635:CA:C | acceptor_loss | 1.0000 |
| 7:97007636:A:AG | acceptor_gain | 1.0000 |
| 7:97007636:AG:A | acceptor_loss | 1.0000 |
| 7:97007637:G:A | acceptor_loss | 1.0000 |
| 7:97007637:G:GA | acceptor_gain | 1.0000 |
| 7:97007637:GA:G | acceptor_gain | 1.0000 |
| 7:97007637:GAT:G | acceptor_gain | 1.0000 |
| 7:97007637:GATC:G | acceptor_gain | 1.0000 |
| 7:97007637:GATCA:G | acceptor_gain | 1.0000 |
| 7:97007829:CAGG:C | donor_loss | 1.0000 |
| 7:97007830:AGG:A | donor_loss | 1.0000 |
| 7:97006412:AGG:A | donor_loss | 0.9900 |
| 7:97006413:GGTGA:G | donor_loss | 0.9900 |
| 7:97006414:GTG:G | donor_loss | 0.9900 |
| 7:97006415:T:G | donor_loss | 0.9900 |
| 7:97007629:T:TA | acceptor_gain | 0.9900 |
| 7:97009790:TTGCA:T | acceptor_loss | 0.9900 |
| 7:97009793:CAGGT:C | acceptor_loss | 0.9900 |
| 7:97009794:A:AG | acceptor_gain | 0.9900 |
| 7:97009795:G:GA | acceptor_loss | 0.9900 |
| 7:97009795:G:GG | acceptor_gain | 0.9900 |
| 7:97007626:ATTT:A | acceptor_gain | 0.9800 |
| 7:97007634:A:AG | acceptor_gain | 0.9800 |
| 7:97007635:C:G | acceptor_gain | 0.9800 |
| 7:97007627:T:G | acceptor_gain | 0.9600 |
| 7:97009795:GGT:G | acceptor_gain | 0.9600 |
| 7:97006414:G:GG | donor_gain | 0.9500 |
| 7:97007626:A:AG | acceptor_gain | 0.9500 |
| 7:97009791:T:TA | acceptor_gain | 0.9400 |
AlphaMissense
1936 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000787946 (7:97008888 T>C), RS1000842059 (7:97009262 A>G,T), RS1000974937 (7:97004870 A>G,T), RS1001300592 (7:97005043 C>A,G,T), RS1001449923 (7:97003589 G>GA), RS1001603219 (7:97006241 CCACCACCACCAG>C,CCACCACCACCAGCACCACCACCAG), RS1002017487 (7:97010113 A>G,T), RS1002091017 (7:97009910 C>A), RS1002720136 (7:97009554 C>G), RS1003092257 (7:97008320 T>A), RS1003218155 (7:97005370 T>A), RS1003823701 (7:97010967 GAATTT>G), RS1003873160 (7:97005412 G>C,T), RS1004105737 (7:97006748 A>G), RS1004278 (7:97008733 G>A,C,T)
Disease associations
OMIM: gene MIM:600030 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| split hand-foot malformation | Supportive | Autosomal dominant |
| autism spectrum disorder | Limited | Autosomal dominant |
Mondo (2): autism spectrum disorder (MONDO:0005258), split hand-foot malformation (MONDO:0016576)
Orphanet (0):
HPO phenotypes
8 total (8 of 8 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000526 | Aniridia |
| HP:0001171 | Split hand |
| HP:0001839 | Split foot |
| HP:0004050 | Absent hand |
| HP:0004058 | Hand monodactyly |
| HP:0006101 | Finger syndactyly |
| HP:0012165 | Oligodactyly |
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006479_63 | Diverticular disease | 5.000000e-07 |
| GCST007327_5 | Smoking status (ever vs never smokers) | 3.000000e-10 |
| GCST007565_128 | Morning person | 1.000000e-13 |
| GCST007565_156 | Morning person | 4.000000e-29 |
| GCST007576_9 | Chronotype | 4.000000e-29 |
| GCST007989_10 | Facial morphology traits (63 three-dimensional facial segments) | 1.000000e-22 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009959 | diverticular disease |
| EFO:0004318 | smoking behavior |
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 5 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| pentanal | increases expression | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Panobinostat | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Azacitidine | increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Nickel | decreases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Copper Sulfate | 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_A0Z2 | SEES3-1V human DLX6, clone1 | Embryonic stem cell | Male |
| CVCL_A0Z3 | SEES3-1V human DLX6, clone2 | Embryonic stem cell | Male |
| CVCL_A0Z4 | SEES3-1V human DLX6, clone3 | Embryonic stem cell | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT01302964 | PHASE3 | COMPLETED | Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders |
| NCT01706523 | PHASE3 | TERMINATED | Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders |
| NCT01825798 | PHASE3 | COMPLETED | Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD) |
| NCT01972074 | PHASE3 | COMPLETED | Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder |
| NCT02985749 | PHASE3 | COMPLETED | A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder |
| NCT03197922 | PHASE3 | COMPLETED | Treatment of Encopresis in Children With Autism Spectrum Disorders |
| NCT03504917 | PHASE3 | TERMINATED | A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension |
| NCT03553875 | PHASE3 | TERMINATED | Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions |
| NCT03640156 | PHASE3 | COMPLETED | Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin |
| NCT03715153 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder. |
| NCT03715166 | PHASE3 | TERMINATED | Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder |
| NCT04233502 | PHASE3 | WITHDRAWN | Efficacy and Safety of Slenyto for Insomnia in Children With ASD |
| NCT04578756 | PHASE3 | COMPLETED | Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder |
| NCT04623398 | PHASE3 | COMPLETED | Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency) |
| NCT04725383 | PHASE3 | TERMINATED | Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders |
| NCT05212493 | PHASE3 | COMPLETED | The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder |
| NCT05361707 | PHASE3 | UNKNOWN | Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances |
| NCT05439616 | PHASE3 | COMPLETED | Study of Cariprazine Oral Capsules or Solution to Assess Adverse Events and Change in Irritability Due to Autism Spectrum Disorder (ASD) in Participants Aged 5-17 Years With ASD |
| NCT06229210 | PHASE3 | RECRUITING | Safety and Tolerability Trial of Lumateperone in Pediatric Patients With Schizophrenia, Bipolar Disorder or Autism Spectrum Disorder |
Related Atlas pages
- Associated diseases: autism spectrum disorder, split hand-foot malformation
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): split hand-foot malformation