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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1747
Gene name Gene Name - the full gene name approved by the HGNC.	Distal-less homeobox 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DLX3
Synonyms (NCBI Gene) Gene synonyms aliases	AI4, TDO
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q21.33
Summary Summary of gene provided in NCBI Entrez Gene.	Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906405	CCCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs387906406	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057518764	C>-,CC	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1555617226	C>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(206)

miRTarBase ID	miRNA	Experiments	Reference
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624138	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624140	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624138	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624138	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT624141	hsa-miR-33a-3p	HITS-CLIP	23824327
MIRT624140	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624139	hsa-miR-4307	HITS-CLIP	23824327
MIRT624138	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT624137	hsa-miR-1305	HITS-CLIP	23824327
MIRT624136	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT938947	hsa-miR-1200	CLIP-seq
MIRT938948	hsa-miR-1207-5p	CLIP-seq
MIRT938949	hsa-miR-124	CLIP-seq
MIRT938950	hsa-miR-1299	CLIP-seq
MIRT938951	hsa-miR-1321	CLIP-seq
MIRT938952	hsa-miR-133a	CLIP-seq
MIRT938953	hsa-miR-133b	CLIP-seq
MIRT938954	hsa-miR-150	CLIP-seq
MIRT938955	hsa-miR-3127-5p	CLIP-seq
MIRT938956	hsa-miR-3179	CLIP-seq
MIRT938957	hsa-miR-3189-3p	CLIP-seq
MIRT938958	hsa-miR-3192	CLIP-seq
MIRT938959	hsa-miR-3202	CLIP-seq
MIRT938960	hsa-miR-362-5p	CLIP-seq
MIRT938961	hsa-miR-3689a-3p	CLIP-seq
MIRT938962	hsa-miR-3689c	CLIP-seq
MIRT938963	hsa-miR-4254	CLIP-seq
MIRT938964	hsa-miR-4268	CLIP-seq
MIRT938965	hsa-miR-4278	CLIP-seq
MIRT938966	hsa-miR-4292	CLIP-seq
MIRT938967	hsa-miR-4308	CLIP-seq
MIRT938968	hsa-miR-4324	CLIP-seq
MIRT938969	hsa-miR-4447	CLIP-seq
MIRT938970	hsa-miR-4472	CLIP-seq
MIRT938971	hsa-miR-4476	CLIP-seq
MIRT938972	hsa-miR-4481	CLIP-seq
MIRT938973	hsa-miR-4488	CLIP-seq
MIRT938974	hsa-miR-4505	CLIP-seq
MIRT938975	hsa-miR-4651	CLIP-seq
MIRT938976	hsa-miR-4688	CLIP-seq
MIRT938977	hsa-miR-4697-5p	CLIP-seq
MIRT938978	hsa-miR-4716-3p	CLIP-seq
MIRT938979	hsa-miR-4728-5p	CLIP-seq
MIRT938980	hsa-miR-4739	CLIP-seq
MIRT938981	hsa-miR-4745-5p	CLIP-seq
MIRT938982	hsa-miR-4756-5p	CLIP-seq
MIRT938983	hsa-miR-4758-5p	CLIP-seq
MIRT938984	hsa-miR-4763-3p	CLIP-seq
MIRT938985	hsa-miR-4773	CLIP-seq
MIRT938986	hsa-miR-486-3p	CLIP-seq
MIRT938987	hsa-miR-500b	CLIP-seq
MIRT938988	hsa-miR-506	CLIP-seq
MIRT938989	hsa-miR-518e	CLIP-seq
MIRT938990	hsa-miR-544b	CLIP-seq
MIRT938991	hsa-miR-548an	CLIP-seq
MIRT938992	hsa-miR-550b	CLIP-seq
MIRT938993	hsa-miR-608	CLIP-seq
MIRT938994	hsa-miR-659	CLIP-seq
MIRT938995	hsa-miR-671-5p	CLIP-seq
MIRT938996	hsa-miR-765	CLIP-seq
MIRT938997	hsa-miR-875-3p	CLIP-seq
MIRT938998	hsa-miR-9	CLIP-seq
MIRT938999	hsa-miR-935	CLIP-seq
MIRT1977781	hsa-miR-1	CLIP-seq
MIRT938949	hsa-miR-124	CLIP-seq
MIRT1977782	hsa-miR-1270	CLIP-seq
MIRT1977783	hsa-miR-1275	CLIP-seq
MIRT938951	hsa-miR-1321	CLIP-seq
MIRT938954	hsa-miR-150	CLIP-seq
MIRT1977784	hsa-miR-206	CLIP-seq
MIRT1977785	hsa-miR-2682	CLIP-seq
MIRT1977786	hsa-miR-3153	CLIP-seq
MIRT1977787	hsa-miR-3173-3p	CLIP-seq
MIRT1977788	hsa-miR-339-5p	CLIP-seq
MIRT1977789	hsa-miR-342-5p	CLIP-seq
MIRT1977790	hsa-miR-361-3p	CLIP-seq
MIRT1977791	hsa-miR-3673	CLIP-seq
MIRT1977792	hsa-miR-3689d	CLIP-seq
MIRT1977793	hsa-miR-3925-3p	CLIP-seq
MIRT938963	hsa-miR-4254	CLIP-seq
MIRT1977794	hsa-miR-4260	CLIP-seq
MIRT1977795	hsa-miR-4286	CLIP-seq
MIRT1977796	hsa-miR-4446-5p	CLIP-seq
MIRT1977797	hsa-miR-4459	CLIP-seq
MIRT1977798	hsa-miR-449c	CLIP-seq
MIRT1977799	hsa-miR-4531	CLIP-seq
MIRT1977800	hsa-miR-4639-3p	CLIP-seq
MIRT938975	hsa-miR-4651	CLIP-seq
MIRT1977801	hsa-miR-4664-5p	CLIP-seq
MIRT1977802	hsa-miR-4665-5p	CLIP-seq
MIRT1977803	hsa-miR-4687-3p	CLIP-seq
MIRT1977804	hsa-miR-4715-3p	CLIP-seq
MIRT938978	hsa-miR-4716-3p	CLIP-seq
MIRT938979	hsa-miR-4728-5p	CLIP-seq
MIRT938980	hsa-miR-4739	CLIP-seq
MIRT1977805	hsa-miR-4755-5p	CLIP-seq
MIRT938982	hsa-miR-4756-5p	CLIP-seq
MIRT938988	hsa-miR-506	CLIP-seq
MIRT1977806	hsa-miR-511	CLIP-seq
MIRT938991	hsa-miR-548an	CLIP-seq
MIRT938992	hsa-miR-550b	CLIP-seq
MIRT938993	hsa-miR-608	CLIP-seq
MIRT1977807	hsa-miR-613	CLIP-seq
MIRT1977808	hsa-miR-620	CLIP-seq
MIRT1977809	hsa-miR-622	CLIP-seq
MIRT1977810	hsa-miR-625	CLIP-seq
MIRT1977811	hsa-miR-670	CLIP-seq
MIRT1977812	hsa-miR-766	CLIP-seq
MIRT938999	hsa-miR-935	CLIP-seq
MIRT1977813	hsa-miR-940	CLIP-seq
MIRT2213084	hsa-miR-1226	CLIP-seq
MIRT938949	hsa-miR-124	CLIP-seq
MIRT2213085	hsa-miR-1243	CLIP-seq
MIRT1977783	hsa-miR-1275	CLIP-seq
MIRT938951	hsa-miR-1321	CLIP-seq
MIRT938952	hsa-miR-133a	CLIP-seq
MIRT938953	hsa-miR-133b	CLIP-seq
MIRT938954	hsa-miR-150	CLIP-seq
MIRT2213086	hsa-miR-24	CLIP-seq
MIRT2213087	hsa-miR-2467-3p	CLIP-seq
MIRT2213088	hsa-miR-2467-5p	CLIP-seq
MIRT1977785	hsa-miR-2682	CLIP-seq
MIRT2213089	hsa-miR-3123	CLIP-seq
MIRT938955	hsa-miR-3127-5p	CLIP-seq
MIRT2213090	hsa-miR-3168	CLIP-seq
MIRT2213091	hsa-miR-3175	CLIP-seq
MIRT938957	hsa-miR-3189-3p	CLIP-seq
MIRT2213092	hsa-miR-3189-5p	CLIP-seq
MIRT938958	hsa-miR-3192	CLIP-seq
MIRT938960	hsa-miR-362-5p	CLIP-seq
MIRT2213093	hsa-miR-3654	CLIP-seq
MIRT2213094	hsa-miR-3664-3p	CLIP-seq
MIRT2213095	hsa-miR-3925-5p	CLIP-seq
MIRT2213096	hsa-miR-3928	CLIP-seq
MIRT2213097	hsa-miR-3938	CLIP-seq
MIRT938963	hsa-miR-4254	CLIP-seq
MIRT2213098	hsa-miR-4270	CLIP-seq
MIRT938965	hsa-miR-4278	CLIP-seq
MIRT2213099	hsa-miR-4290	CLIP-seq
MIRT2213100	hsa-miR-4419a	CLIP-seq
MIRT2213101	hsa-miR-4433	CLIP-seq
MIRT2213102	hsa-miR-4441	CLIP-seq
MIRT938969	hsa-miR-4447	CLIP-seq
MIRT1977797	hsa-miR-4459	CLIP-seq
MIRT938970	hsa-miR-4472	CLIP-seq
MIRT2213103	hsa-miR-4496	CLIP-seq
MIRT1977798	hsa-miR-449c	CLIP-seq
MIRT2213104	hsa-miR-4510	CLIP-seq
MIRT2213105	hsa-miR-4514	CLIP-seq
MIRT2213106	hsa-miR-4645-5p	CLIP-seq
MIRT938975	hsa-miR-4651	CLIP-seq
MIRT1977802	hsa-miR-4665-5p	CLIP-seq
MIRT2213107	hsa-miR-4673	CLIP-seq
MIRT2213108	hsa-miR-4683	CLIP-seq
MIRT2213109	hsa-miR-4687-5p	CLIP-seq
MIRT2213110	hsa-miR-4692	CLIP-seq
MIRT2213111	hsa-miR-4701-5p	CLIP-seq
MIRT2213112	hsa-miR-4712-5p	CLIP-seq
MIRT938978	hsa-miR-4716-3p	CLIP-seq
MIRT2213113	hsa-miR-4723-5p	CLIP-seq
MIRT938979	hsa-miR-4728-5p	CLIP-seq
MIRT938980	hsa-miR-4739	CLIP-seq
MIRT2213114	hsa-miR-4755-3p	CLIP-seq
MIRT938982	hsa-miR-4756-5p	CLIP-seq
MIRT2213115	hsa-miR-4758-3p	CLIP-seq
MIRT2213116	hsa-miR-4768-3p	CLIP-seq
MIRT2213117	hsa-miR-4786-5p	CLIP-seq
MIRT2213118	hsa-miR-4800-3p	CLIP-seq
MIRT2213119	hsa-miR-494	CLIP-seq
MIRT938987	hsa-miR-500b	CLIP-seq
MIRT938988	hsa-miR-506	CLIP-seq
MIRT2213120	hsa-miR-5096	CLIP-seq
MIRT938991	hsa-miR-548an	CLIP-seq
MIRT938992	hsa-miR-550b	CLIP-seq
MIRT2213121	hsa-miR-588	CLIP-seq
MIRT938993	hsa-miR-608	CLIP-seq
MIRT2213122	hsa-miR-642a	CLIP-seq
MIRT2213123	hsa-miR-645	CLIP-seq
MIRT938994	hsa-miR-659	CLIP-seq
MIRT2213124	hsa-miR-665	CLIP-seq
MIRT2213125	hsa-miR-764	CLIP-seq
MIRT938996	hsa-miR-765	CLIP-seq
MIRT2213126	hsa-miR-770-5p	CLIP-seq
MIRT938998	hsa-miR-9	CLIP-seq
MIRT938999	hsa-miR-935	CLIP-seq
MIRT1977813	hsa-miR-940	CLIP-seq

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001890	Process	Placenta development	IEA
GO:0001942	Process	Hair follicle development	IEA
GO:0003677	Function	DNA binding	IDA	26550823
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	9467018
GO:0005515	Function	Protein binding	IPI	26871637, 28515447, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0010467	Process	Gene expression	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030855	Process	Epithelial cell differentiation	IBA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0035315	Process	Hair cell differentiation	IEA
GO:0042475	Process	Odontogenesis of dentin-containing tooth	IEA
GO:0042633	Process	Hair cycle	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048706	Process	Embryonic skeletal system development	IBA
GO:0071335	Process	Hair follicle cell proliferation	IEA
GO:0071895	Process	Odontoblast differentiation	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600525	2916	ENSG00000064195

Protein

UniProt ID

O60479

Protein name

Homeobox protein DLX-3

Protein function

Transcriptional activator (By similarity). Activates transcription of GNRHR, via binding to the downstream activin regulatory element (DARE) in the gene promoter (By similarity).

PDB

4XRS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12413	DLL_N	27 → 108	Homeobox protein distal-less-like N terminal	Family
PF00046	Homeodomain	130 → 186	Homeodomain	Domain

Sequence

MSGSFDRKLSSILTDISSSLSCHAGSKDSPTLPESSVTDLGYYSAPQHDYYSGQPYGQTV
NPYTYHHQFNLNGLAGTGAYSPKSEYTYGASYRQYGAYREQPLPAQDPVSVKEEPEAEVR
MVNGKPKKVRKPRTIYSSYQLAALQRRFQKAQYLALPERAELAAQLGLTQTQVKIWFQNR
RSKFKKLYKNGEVPLEHSPNNSDSMACNSPPSPALWDTSSHSTPAPARSQLPPPLPYSAS
PSYLDDPTNSWYHAQNLSGPHLQQQPPQPATLHHASPGPPPNPGAVY

Sequence length

287

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Amelogenesis Imperfecta With Taurodontism	hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	rs387906406, rs1057518764	N/A
Trichodentoosseous syndrome	tricho-dento-osseous syndrome	rs387906405, rs387906406	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Amelogenesis imperfecta	Amelogenesis Imperfecta, Dominant	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (17)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ameloblastoma	Associate	18854600
Amelogenesis Imperfecta	Associate	16674655, 30095208
Autism Spectrum Disorder	Associate	28533516
Autistic Disorder	Associate	27562213
Bone Diseases Metabolic	Associate	33655330
Carcinogenesis	Associate	31331058
Dental Caries	Associate	34311721
Developmental Dysplasia of the Hip	Associate	19756907
Neoplasms Squamous Cell	Associate	31331058
Odontogenic Tumors	Associate	18854600, 36344906
Odontoma	Associate	36344906
Osteoporosis	Associate	34925225
Osteoporotic Fractures	Associate	34925225
Skin Abnormalities	Associate	21520071
Taurodontism	Associate	30095208
Tooth Abnormalities	Associate	21520071
Tricho dento osseous syndrome	Associate	21520071, 30095208, 9783705

DLX3 (distal-less homeobox 3)