DLX1

Summary

DLX1 (distal-less homeobox 1, HGNC:2914) is a protein-coding gene on chromosome 2q31.1, encoding Homeobox protein DLX-1 (P56177). Plays a role as a transcriptional activator or repressor.

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 1745 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 28 total
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• Transcription factor: yes — 12 downstream targets (CollecTRI)
• MANE Select transcript: NM_178120

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2914
Approved symbol	DLX1
Name	distal-less homeobox 1
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000144355
Ensembl biotype	protein_coding
OMIM	600029
Entrez	1745

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000341900, ENST00000361609, ENST00000361725, ENST00000409492, ENST00000469444, ENST00000475989, ENST00000550686

RefSeq mRNA: 2 — MANE Select: NM_178120 NM_001038493, NM_178120

CCDS: CCDS2247, CCDS33328

Canonical transcript exons

ENST00000361725 — 3 exons

Exon	Start	End
ENSE00001172209	172086654	172086853
ENSE00001512432	172085507	172085990
ENSE00003573314	172088003	172089674

Expression profiles

Bgee: expression breadth ubiquitous, 142 present calls, max score 87.59.

FANTOM5 (CAGE): breadth broad, TPM avg 4.6406 / max 342.3130, expressed in 698 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23688	1.9409	498
23691	1.7463	437
23686	0.2971	151
23690	0.2461	134
23693	0.1727	48
23689	0.1104	50
23687	0.0776	31
23692	0.0449	17
23685	0.0045	2

Top tissues by expression

240 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	87.59	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.67	silver quality
anterior cingulate cortex	UBERON:0009835	84.47	gold quality
endothelial cell	CL:0000115	83.98	gold quality
ganglionic eminence	UBERON:0004023	83.98	gold quality
prefrontal cortex	UBERON:0000451	83.77	gold quality
Brodmann (1909) area 23	UBERON:0013554	83.73	gold quality
neocortex	UBERON:0001950	81.66	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	81.43	gold quality
primary visual cortex	UBERON:0002436	81.38	gold quality
frontal cortex	UBERON:0001870	80.94	gold quality
Brodmann (1909) area 9	UBERON:0013540	80.07	gold quality
right frontal lobe	UBERON:0002810	79.74	gold quality
cerebral cortex	UBERON:0000956	79.43	gold quality
amygdala	UBERON:0001876	79.41	gold quality
cortical plate	UBERON:0005343	79.41	gold quality
ventricular zone	UBERON:0003053	79.37	gold quality
hypothalamus	UBERON:0001898	78.38	gold quality
putamen	UBERON:0001874	77.72	gold quality
occipital lobe	UBERON:0002021	77.49	gold quality
temporal lobe	UBERON:0001871	77.36	gold quality
stromal cell of endometrium	CL:0002255	76.69	gold quality
superior frontal gyrus	UBERON:0002661	76.20	gold quality
Brodmann (1909) area 46	UBERON:0006483	75.22	gold quality
entorhinal cortex	UBERON:0002728	74.34	gold quality
postcentral gyrus	UBERON:0002581	74.09	gold quality
forebrain	UBERON:0001890	73.46	gold quality
caudate nucleus	UBERON:0001873	72.99	gold quality
parietal lobe	UBERON:0001872	72.31	gold quality
Ammon’s horn	UBERON:0001954	71.69	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	242.00
E-HCAD-5	yes	23.87
E-GEOD-93593	yes	13.06
E-ANND-3	no	1.46

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

12 targets.

Target	Regulation
DLX5	Repression
DLX6	Repression
ERBB4	Unknown
GAD1	Activation
GAD2	Activation
GNRH1
NRP2	Repression
NTRK2
PROK2	Unknown
ROBO2	Unknown
SLIT1	Unknown
WNT1

JASPAR motifs

Motif	Name	Family
MA0879.2	DLX1	NK
MA0879.3	DLX1	NK

JASPAR matrix evidence (PMIDs): PMID:18585359

Upstream regulators (CollecTRI, top): ARX

miRNA regulators (miRDB)

93 targeting DLX1, 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-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 17)

• DLX1 may function as a regulator of multiple signals from TGF-beta superfamily members in broad biological contexts during blood production (PMID:14671321)
• The DLX1 and DLX2 genes lie head-to-head in 2q32; the findings support the presence of two functional polymorphisms, one in or near each of the DLX genes that increase susceptibility to, or cause, autism. (PMID:18728693)
• These findings suggest that alterations in DLX1/2 contribute to the biological consequences of FLT3 activation. (PMID:21357706)
• The study data demonstrate an association between SNP rs7888172 of the DLX1 gene and non-syndromic hypodontia in Chinese Han individuals. (PMID:22984994)
• The regulation of fate switch between cortical and striatal interneurons is dependent on Dlx1 (and Dlx2). (PMID:23312518)
• TDT results showed an association between DLX1 and cleft lip and palate, in which the A allele was undertransmited (p=0.022). (PMID:25463899)
• DLX1 mRNA levels were shown to be good predictors for the detection of High-grade Prostate Cancer. (PMID:27108162)
• these data strongly suggest that DLX1 has a pivotal role in FOXM1 signaling to promote cancer aggressiveness through intensifying TGF-beta/SMAD4 signaling in high-grade serous ovarian cancer cells. (PMID:27593933)
• Our results provided evidence that polymorphisms in TIMP1, DLX1 and DLX2 genes may be associated with DF phenotypes. (PMID:28131910)
• DLX1 interacted with beta-catenin and enhanced the interaction between beta-catenin and TCF4 T-cell factor (PMID:29317218)
• observations suggest that altered DLX1 methylation and expression contribute to pathogenesis of PSP by influencing MAPT. (PMID:30050033)
• TUG1 participated in the development of OSCC as a competing endogenous RNA to competitively bind to miR-524-5p and thus mediate DLX1 expression. (PMID:30980391)
• Urinary DLX1 mRNA levels were quantified and RNA results were then combined with other risk factors in a clinical model optimized to detect International Society of Urological Pathology Grade Group 2 or greater prostate cancer in men with prostate specific antigen less than 10 ng/ml. (PMID:31026217)
• Prospective assessment of two-gene urinary test with multiparametric magnetic resonance imaging of the prostate for men undergoing primary prostate biopsy. (PMID:32681273)
• MiR-129-5p/DLX1 signalling axis mediates functions of prostate cancer during malignant progression. (PMID:34472106)
• Transcriptional network involving ERG and AR orchestrates Distal-less homeobox-1 mediated prostate cancer progression. (PMID:34493733)
• DLX1 acts as a novel prognostic biomarker involved in immune cell infiltration and tumor progression in lung adenocarcinoma. (PMID:38317839)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dlx1a	ENSDARG00000013125
mus_musculus	Dlx1	ENSMUSG00000041911
rattus_norvegicus	Dlx1	ENSRNOG00000001520
drosophila_melanogaster	Dll	FBGN0000157
caenorhabditis_elegans		WBGENE00000463

Paralogs (9): DLX6 (ENSG00000006377), DLX3 (ENSG00000064195), DLX5 (ENSG00000105880), DLX4 (ENSG00000108813), NANOG (ENSG00000111704), DLX2 (ENSG00000115844), VENTX (ENSG00000151650), BSX (ENSG00000188909), NANOGP8 (ENSG00000255192)

Protein

Protein identifiers

Homeobox protein DLX-1 — P56177 (reviewed: P56177)

All UniProt accessions (4): P56177, F8VXJ2, J3KP55, X5D2F9

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role as a transcriptional activator or repressor. Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina. Likely to play a regulatory role in the development of the ventral forebrain. May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions.

Subunit / interactions. Interacts with SMAD4 (via homeobox DNA-binding domain). Interacts (via homeobox DNA-binding domain) with POU4F2; this interaction suppresses DLX1-mediated transcriptional activity in postnatal retina and enhances retinal ganglion cell (RGC) differentiation.

Subcellular location. Nucleus.

Tissue specificity. Expressed in hematopoietic cell lines.

Domain organisation. The homeobox DNA-binding domain is necessary for its nuclear localization, transcriptional and erythroid differentiation activities.

Similarity. Belongs to the distal-less homeobox family.

Isoforms (2)

UniProt ID	Names	Canonical?
P56177-1	1	yes
P56177-2	2

RefSeq proteins (2): NP_001033582, NP_835221* (*=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 (10 total): region of interest 3, compositionally biased region 3, chain 1, DNA-binding region 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56177-F1	65.67	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 301 (showing top): MYAATNNNNNNNGGC_UNKNOWN, AP1_01, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_NEGATIVE_REGULATION_OF_OLIGODENDROCYTE_DIFFERENTIATION, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, NKX25_02, GOBP_NEGATIVE_REGULATION_OF_GLIOGENESIS, LFA1_Q6, GOBP_EMBRYONIC_SKELETAL_SYSTEM_DEVELOPMENT, CMYB_01

GO Biological Process (29): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), Notch signaling pathway (GO:0007219), proximal/distal pattern formation (GO:0009954), neuroblast differentiation (GO:0014016), subpallium development (GO:0021544), hippocampus development (GO:0021766), forebrain neuron fate commitment (GO:0021877), cerebral cortex GABAergic interneuron fate commitment (GO:0021893), cell differentiation (GO:0030154), negative regulation of BMP signaling pathway (GO:0030514), odontogenesis of dentin-containing tooth (GO:0042475), negative regulation of neuron apoptotic process (GO:0043524), positive regulation of cell differentiation (GO:0045597), negative regulation of Notch signaling pathway (GO:0045746), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of photoreceptor cell differentiation (GO:0046533), embryonic skeletal system development (GO:0048706), oligodendrocyte differentiation (GO:0048709), negative regulation of oligodendrocyte differentiation (GO:0048715), neuron apoptotic process (GO:0051402), cellular response to transforming growth factor beta stimulus (GO:0071560), cellular response to BMP stimulus (GO:0071773), positive regulation of amacrine cell differentiation (GO:1902871), negative regulation of cellular response to transforming growth factor beta stimulus (GO:1903845), regulation of DNA-templated transcription (GO:0006355), forebrain neuron differentiation (GO:0021879), cerebral cortex GABAergic interneuron differentiation (GO:0021892), GABAergic neuron differentiation (GO:0097154)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), chromatin binding (GO:0003682), sequence-specific double-stranded DNA binding (GO:1990837), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829)

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
cellular anatomical structure	3
cell differentiation	2
anatomical structure development	2
neuron fate commitment	2
RNA polymerase II transcription regulatory region sequence-specific DNA binding	2
binding	2
negative regulation of DNA-templated transcription	1
regulation of DNA-templated transcription	1
cell surface receptor signaling pathway	1
regionalization	1
generation of neurons	1
telencephalon development	1
pallium development	1
limbic system development	1
forebrain neuron differentiation	1
cerebral cortex GABAergic interneuron differentiation	1
cellular developmental process	1
BMP signaling pathway	1
regulation of BMP signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
negative regulation of cellular response to growth factor stimulus	1
odontogenesis	1
negative regulation of apoptotic process	1
regulation of neuron apoptotic process	1
neuron apoptotic process	1
regulation of cell differentiation	1
positive regulation of cellular process	1
positive regulation of developmental process	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
negative regulation of signal transduction	1
positive regulation of DNA-templated transcription	1
negative regulation of neuron differentiation	1
photoreceptor cell differentiation	1
regulation of photoreceptor cell differentiation	1
negative regulation of multicellular organismal process	1
skeletal system development	1
chordate embryonic development	1

Protein interactions and networks

STRING

1536 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DLX1	ASCL1	P50553	864
DLX1	CALB2	P22676	794
DLX1	MYT1L	Q9UL68	745
DLX1	LHX6	Q9UPM6	730
DLX1	BMP4	P12644	688
DLX1	TDRD1	Q9BXT4	676
DLX1	PVALB	P20472	669
DLX1	GAD1	Q99259	605
DLX1	POU3F2	P20265	602
DLX1	SST	P01166	600
DLX1	NEUROG2	Q9H2A3	589
DLX1	FGF8	P55075	589
DLX1	TBR1	Q16650	576
DLX1	POU3F3	P20264	571
DLX1	FOXG1	P55315	570

IntAct

5 interactions, top by confidence:

A	B	Type	Score
FOXA1	NFIC	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
DLX1	IGLC2	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): DLX1 (Affinity Capture-MS), DLX1 (Affinity Capture-Western), DLX1 (Affinity Capture-MS), DHPS (Affinity Capture-MS), IMPDH1 (Affinity Capture-MS), IGLC2 (Affinity Capture-MS), DLX1 (Affinity Capture-MS)

ESM2 similar proteins: D2KQB0, O08656, O13023, O60479, O88181, O93353, P09022, P23682, P23759, P43120, P46692, P47239, P49639, P50575, P53770, P53771, P54655, P56177, P56178, P70062, P70063, P70064, P70396, Q01702, Q03014, Q04743, Q04744, Q05640, Q28DP6, Q2TAQ8, Q3V5Z9, Q4V5A3, Q64205, Q6F2E3, Q6GL68, Q800Q5, Q8AWG6, Q8VIB5, Q90229, Q90270

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

28 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

524 predictions. Top by Δscore:

Variant	Effect	Δscore
2:172085989:AGGTA:A	donor_loss	1.0000
2:172085991:G:GG	donor_gain	1.0000
2:172085991:GTAC:G	donor_loss	1.0000
2:172086650:CCAGG:C	acceptor_loss	1.0000
2:172086651:CAGGG:C	acceptor_loss	1.0000
2:172086652:A:AG	acceptor_gain	1.0000
2:172086652:AG:A	acceptor_gain	1.0000
2:172086652:AGG:A	acceptor_gain	1.0000
2:172086653:G:GG	acceptor_gain	1.0000
2:172086653:G:GT	acceptor_loss	1.0000
2:172086653:GG:G	acceptor_gain	1.0000
2:172086653:GGG:G	acceptor_gain	1.0000
2:172085986:CCCAG:C	donor_gain	0.9900
2:172085987:CCAG:C	donor_gain	0.9900
2:172085988:CAG:C	donor_gain	0.9900
2:172085989:AG:A	donor_gain	0.9900
2:172085990:GG:G	donor_gain	0.9900
2:172086643:T:A	acceptor_gain	0.9900
2:172086648:CTCCA:C	acceptor_loss	0.9900
2:172086649:TCCA:T	acceptor_loss	0.9900
2:172086653:GGGGC:G	acceptor_gain	0.9900
2:172086736:G:GT	donor_gain	0.9900
2:172086775:G:GT	donor_gain	0.9900
2:172086793:G:GG	donor_gain	0.9900
2:172086849:CTCAG:C	donor_loss	0.9900
2:172086850:TCAG:T	donor_loss	0.9900
2:172086851:CAGGT:C	donor_loss	0.9900
2:172086852:AGGTA:A	donor_loss	0.9900
2:172086853:GG:G	donor_loss	0.9900
2:172086854:GT:G	donor_loss	0.9900

AlphaMissense

1652 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:172086719:A:G	K127E	1.000
2:172086725:C:A	R129S	1.000
2:172086725:C:G	R129G	1.000
2:172086725:C:T	R129C	1.000
2:172086726:G:A	R129H	1.000
2:172086726:G:T	R129L	1.000
2:172086728:A:G	K130E	1.000
2:172086729:A:T	K130I	1.000
2:172086730:A:C	K130N	1.000
2:172086730:A:T	K130N	1.000
2:172086731:C:T	P131S	1.000
2:172086732:C:A	P131H	1.000
2:172086734:A:G	R132G	1.000
2:172086734:A:T	R132W	1.000
2:172086735:G:C	R132T	1.000
2:172086735:G:T	R132M	1.000
2:172086736:G:C	R132S	1.000
2:172086736:G:T	R132S	1.000
2:172086737:A:C	T133P	1.000
2:172086738:C:A	T133K	1.000
2:172086738:C:G	T133R	1.000
2:172086738:C:T	T133M	1.000
2:172086740:A:T	I134F	1.000
2:172086741:T:A	I134N	1.000
2:172086741:T:C	I134T	1.000
2:172086741:T:G	I134S	1.000
2:172086743:T:A	Y135N	1.000
2:172086743:T:C	Y135H	1.000
2:172086743:T:G	Y135D	1.000
2:172086744:A:C	Y135S	1.000

dbSNP variants (sampled 300 via entrez): RS1000154622 (2:172087704 C>T), RS1000284544 (2:172087441 G>C), RS1000421233 (2:172087188 C>A,T), RS1000616354 (2:172087311 C>A), RS1000830117 (2:172086104 G>C), RS1001150305 (2:172088665 G>A,T), RS1001547316 (2:172089068 A>G), RS1001998116 (2:172088770 G>A), RS1002228657 (2:172089268 G>A,T), RS1003001197 (2:172085220 G>T), RS1003058828 (2:172085440 C>A), RS1003264972 (2:172090113 G>A,T), RS1003401980 (2:172083924 A>G,T), RS1004412808 (2:172083891 C>T), RS1004461377 (2:172084906 C>T)

Disease associations

OMIM: gene MIM:600029 | 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
GCST001937_49	Breast cancer	1.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

41 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
Cisplatin	affects cotreatment, decreases expression, increases expression	3
Tetrachlorodibenzodioxin	increases expression	3
Valproic Acid	affects expression, affects cotreatment, increases expression	3
trichostatin A	increases expression, affects expression	2
Resveratrol	affects cotreatment, decreases expression	2
Estradiol	increases expression, affects cotreatment	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
chloroacetaldehyde	decreases expression	1
methylmercuric chloride	increases expression	1
kojic acid	decreases expression	1
arsenite	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ferrous chloride	decreases expression	1
nickel sulfate	increases expression	1
15-acetyldeoxynivalenol	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	increases reaction, affects binding	1
adefovir dipivoxil	decreases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Zoledronic Acid	decreases expression	1
Arsenic Trioxide	decreases expression	1
Arbutin	decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Copper	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_A0X7	SEES3-1V human DLX1, clone1	Embryonic stem cell	Male
CVCL_A0X8	SEES3-1V human DLX1, clone2	Embryonic stem cell	Male
CVCL_A0X9	SEES3-1V human DLX1, clone3	Embryonic stem cell	Male
CVCL_E1AN	Ubigene PC-3 DLX1 KO	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.