Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1745
Gene name	Distal-less homeobox 1
Gene symbol	DLX1
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q31.1
Summary	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}

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Show/Hide all (110)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016270	hsa-miR-193b-3p	Microarray	20304954
MIRT439130	hsa-miR-10b-5p	3'LIFE	25074381
MIRT439130	hsa-miR-10b-5p	3'LIFE	25074381
MIRT938876	hsa-miR-1256	CLIP-seq
MIRT938877	hsa-miR-1293	CLIP-seq
MIRT938878	hsa-miR-134	CLIP-seq
MIRT938879	hsa-miR-147b	CLIP-seq
MIRT938880	hsa-miR-19a	CLIP-seq
MIRT938881	hsa-miR-19b	CLIP-seq
MIRT938882	hsa-miR-210	CLIP-seq
MIRT938883	hsa-miR-23a	CLIP-seq
MIRT938884	hsa-miR-23b	CLIP-seq
MIRT938885	hsa-miR-23c	CLIP-seq
MIRT938886	hsa-miR-30a	CLIP-seq
MIRT938887	hsa-miR-30b	CLIP-seq
MIRT938888	hsa-miR-30c	CLIP-seq
MIRT938889	hsa-miR-30d	CLIP-seq
MIRT938890	hsa-miR-30e	CLIP-seq
MIRT938891	hsa-miR-3118	CLIP-seq
MIRT938892	hsa-miR-3127-5p	CLIP-seq
MIRT938893	hsa-miR-320a	CLIP-seq
MIRT938894	hsa-miR-320b	CLIP-seq
MIRT938895	hsa-miR-320c	CLIP-seq
MIRT938896	hsa-miR-320d	CLIP-seq
MIRT938897	hsa-miR-3613-5p	CLIP-seq
MIRT938898	hsa-miR-4429	CLIP-seq
MIRT938899	hsa-miR-4445	CLIP-seq
MIRT938900	hsa-miR-4483	CLIP-seq
MIRT938901	hsa-miR-4778-5p	CLIP-seq
MIRT938902	hsa-miR-511	CLIP-seq
MIRT938903	hsa-miR-548a-5p	CLIP-seq
MIRT938904	hsa-miR-548ab	CLIP-seq
MIRT938905	hsa-miR-548ak	CLIP-seq
MIRT938906	hsa-miR-548b-5p	CLIP-seq
MIRT938907	hsa-miR-548c-5p	CLIP-seq
MIRT938908	hsa-miR-548d-5p	CLIP-seq
MIRT938909	hsa-miR-548h	CLIP-seq
MIRT938910	hsa-miR-548i	CLIP-seq
MIRT938911	hsa-miR-548j	CLIP-seq
MIRT938912	hsa-miR-548k	CLIP-seq
MIRT938913	hsa-miR-548l	CLIP-seq
MIRT938914	hsa-miR-548w	CLIP-seq
MIRT938915	hsa-miR-548y	CLIP-seq
MIRT938916	hsa-miR-559	CLIP-seq
MIRT938877	hsa-miR-1293	CLIP-seq
MIRT938878	hsa-miR-134	CLIP-seq
MIRT938879	hsa-miR-147b	CLIP-seq
MIRT938882	hsa-miR-210	CLIP-seq
MIRT938891	hsa-miR-3118	CLIP-seq
MIRT938892	hsa-miR-3127-5p	CLIP-seq
MIRT938900	hsa-miR-4483	CLIP-seq
MIRT938877	hsa-miR-1293	CLIP-seq
MIRT938878	hsa-miR-134	CLIP-seq
MIRT938879	hsa-miR-147b	CLIP-seq
MIRT938882	hsa-miR-210	CLIP-seq
MIRT938891	hsa-miR-3118	CLIP-seq
MIRT938892	hsa-miR-3127-5p	CLIP-seq
MIRT938900	hsa-miR-4483	CLIP-seq
MIRT1977768	hsa-miR-3937	CLIP-seq
MIRT1977769	hsa-miR-4469	CLIP-seq
MIRT1977770	hsa-miR-513c	CLIP-seq
MIRT1977771	hsa-miR-514b-5p	CLIP-seq
MIRT938877	hsa-miR-1293	CLIP-seq
MIRT938878	hsa-miR-134	CLIP-seq
MIRT938879	hsa-miR-147b	CLIP-seq
MIRT938882	hsa-miR-210	CLIP-seq
MIRT938891	hsa-miR-3118	CLIP-seq
MIRT938892	hsa-miR-3127-5p	CLIP-seq
MIRT938900	hsa-miR-4483	CLIP-seq
MIRT938877	hsa-miR-1293	CLIP-seq
MIRT938878	hsa-miR-134	CLIP-seq
MIRT938879	hsa-miR-147b	CLIP-seq
MIRT938882	hsa-miR-210	CLIP-seq
MIRT938891	hsa-miR-3118	CLIP-seq
MIRT938892	hsa-miR-3127-5p	CLIP-seq
MIRT938900	hsa-miR-4483	CLIP-seq
MIRT2448313	hsa-miR-1200	CLIP-seq
MIRT938876	hsa-miR-1256	CLIP-seq
MIRT2448314	hsa-miR-1276	CLIP-seq
MIRT2448315	hsa-miR-188-3p	CLIP-seq
MIRT2448316	hsa-miR-2052	CLIP-seq
MIRT2448317	hsa-miR-2114	CLIP-seq
MIRT2448318	hsa-miR-3074-5p	CLIP-seq
MIRT2448319	hsa-miR-3140-3p	CLIP-seq
MIRT938893	hsa-miR-320a	CLIP-seq
MIRT938894	hsa-miR-320b	CLIP-seq
MIRT938895	hsa-miR-320c	CLIP-seq
MIRT938896	hsa-miR-320d	CLIP-seq
MIRT2448320	hsa-miR-330-3p	CLIP-seq
MIRT938897	hsa-miR-3613-5p	CLIP-seq
MIRT2448321	hsa-miR-3621	CLIP-seq
MIRT2448322	hsa-miR-371-5p	CLIP-seq
MIRT2448323	hsa-miR-371b-5p	CLIP-seq
MIRT2448324	hsa-miR-3942-5p	CLIP-seq
MIRT2448325	hsa-miR-4428	CLIP-seq
MIRT938898	hsa-miR-4429	CLIP-seq
MIRT2448326	hsa-miR-4436a	CLIP-seq
MIRT938899	hsa-miR-4445	CLIP-seq
MIRT2448327	hsa-miR-4446-5p	CLIP-seq
MIRT2448328	hsa-miR-4699-3p	CLIP-seq
MIRT2448329	hsa-miR-4700-3p	CLIP-seq
MIRT2448330	hsa-miR-4703-5p	CLIP-seq
MIRT2448331	hsa-miR-4768-3p	CLIP-seq
MIRT938901	hsa-miR-4778-5p	CLIP-seq
MIRT2448332	hsa-miR-493	CLIP-seq
MIRT938902	hsa-miR-511	CLIP-seq
MIRT2448333	hsa-miR-520d-5p	CLIP-seq
MIRT2448334	hsa-miR-524-5p	CLIP-seq
MIRT2448335	hsa-miR-548p	CLIP-seq
MIRT2448336	hsa-miR-561	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	14671321
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	14671321
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	14671321
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0014016	Process	Neuroblast differentiation	IEA
GO:0021544	Process	Subpallium development	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021879	Process	Forebrain neuron differentiation	IEA
GO:0021892	Process	Cerebral cortex GABAergic interneuron differentiation	IEA
GO:0021893	Process	Cerebral cortex GABAergic interneuron fate commitment	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030514	Process	Negative regulation of BMP signaling pathway	IMP	14671321
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045597	Process	Positive regulation of cell differentiation	ISS
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	14671321
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046533	Process	Negative regulation of photoreceptor cell differentiation	IEA
GO:0046533	Process	Negative regulation of photoreceptor cell differentiation	ISS
GO:0048706	Process	Embryonic skeletal system development	IBA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IMP	14671321
GO:0071773	Process	Cellular response to BMP stimulus	IMP	14671321
GO:0097154	Process	GABAergic neuron differentiation	IEA
GO:1902871	Process	Positive regulation of amacrine cell differentiation	IEA
GO:1902871	Process	Positive regulation of amacrine cell differentiation	ISS
GO:1903845	Process	Negative regulation of cellular response to transforming growth factor beta stimulus	IMP	14671321
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600029	2914	ENSG00000144355

P56177

Protein name

Homeobox protein DLX-1

Protein function

Plays a role as a transcriptional activator or repressor (PubMed:14671321). Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription facto

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	129 → 185	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in hematopoietic cell lines. {ECO:0000269|PubMed:14671321}.

Sequence

MTMTTMPESLNSPVSGKAVFMEFGPPNQQMSPSPMSHGHYSMHCLHSAGHSQPDGAYSSA
SSFSRPLGYPYVNSVSSHASSPYISSVQSYPGSASLAQSRLEDPGADSEKSTVVEGGEVR
FNGKGKKIRKPRTIYSSLQLQALNRRFQQTQYLALPERAELAASLGLTQTQVKIWFQNKR
SKFKKLMKQGGAALEGSALANGRALSAGSPPVPPGWNPNSSSGKGSGGNAGSYIPSYTSW
YPSAHQEAMQQPQLM

Sequence length

255

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anodontia	Anodontia	Pubtator	23549991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	18728693, 21302352	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21302352		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	21302352		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	18728693		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	LHGDN	18728693		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18728693		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18728693, 21302352	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	12963668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	12963668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27593933		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30509219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30509219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17711980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18799476, 24412318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27593933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25788493, 27108162, 27196083, 29317218, 30859272, 31026217, 31298493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25463899, 27593933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30509219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18799476, 24412318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31298493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	12963668, 20436929		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	12963668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	27593933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	30050033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	25788493, 27108162, 27196083, 29317218, 30859272, 31026217, 31298493		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23840433, 27196083, 27833659, 31783839, 33740948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	27833659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	12963668, 20436929		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	12963668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	12963668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	12963668		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	28321286	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	30980391		★★★★★ ★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	30050033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24647315, 36803573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DLX1 (distal-less homeobox 1)