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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1749
Gene name	Distal-less homeobox 5
Gene symbol	DLX5
Synonyms (NCBI Gene)	SHFM1SHFM1D
Chromosome	7
Chromosome location	7q21.3
Summary	This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein may play a role in bone development and fracture healing. Mutation in this gene, which is located in a tail-to-tail

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906737	T>G	Pathogenic	Missense variant, coding sequence variant
rs398122527	C>A	Pathogenic	Missense variant, coding sequence variant
rs587777842	C>A	Pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained

Show/Hide all (9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000320	hsa-miR-141-3p	Luciferase reporter assay	19454767
MIRT000204	hsa-miR-200a-3p	Luciferase reporter assay	19454767
MIRT006041	hsa-miR-203a-3p	ImmunoblotIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blot	21159887
MIRT006041	hsa-miR-203a-3p	ImmunoblotIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blot	21159887
MIRT006041	hsa-miR-203a-3p	ImmunoblotIn situ hybridizationLuciferase reporter assayqRT-PCRWestern blot	21159887
MIRT018111	hsa-miR-335-5p	Microarray	18185580
MIRT038077	hsa-miR-423-5p	CLASH	23622248
MIRT006041	hsa-miR-203a-3p	Luciferase reporter assayqRT-PCRWestern blot	28025541
MIRT756262	hsa-miR-135a-5p	Luciferase reporter assayWestern blottingqRT-PCR	38760791

Show/Hide all (2)

Transcription factor	Regulation	Reference
MECP2	Unknown	19195802
POU5F1	Repression	17068183

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	ISS
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	19497851
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
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:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001501	Process	Skeletal system development	TAS	7907794
GO:0001503	Process	Ossification	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0001958	Process	Endochondral ossification	IEA
GO:0001958	Process	Endochondral ossification	ISS
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	TAS	7907794
GO:0007409	Process	Axonogenesis	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0008283	Process	Cell population proliferation	IDA	19497851
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0021889	Process	Olfactory bulb interneuron differentiation	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030509	Process	BMP signaling pathway	ISS
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043583	Process	Ear development	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	19497851
GO:0045893	Process	Positive regulation of DNA-templated transcription	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:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048706	Process	Embryonic skeletal system development	IBA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060166	Process	Olfactory pit development	IEA
GO:0060322	Process	Head development	IEA
GO:0060325	Process	Face morphogenesis	IEA
GO:0060349	Process	Bone morphogenesis	IEA
GO:0071837	Function	HMG box domain binding	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IEA
GO:0097376	Process	Interneuron axon guidance	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600028	2918	ENSG00000105880

P56178

Protein name

Homeobox protein DLX-5

Protein function

Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast

PDB

2DJN , 4RDU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12413	DLL_N	32 → 118	Homeobox protein distal-less-like N terminal	Family
PF00046	Homeodomain	138 → 194	Homeodomain	Domain

Sequence

MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCS
PTSASYGKALNPYQYQYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEK
EVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQ
VKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWEPQGSSRSLSHHPHAH
PPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY

Sequence length

289

Interactions

View interactions

	KEGG
	Signaling pathways regulating pluripotency of stem cells

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DLX5-related disorder	Likely pathogenic	rs2485521415, rs2485516681	RCV003402777 RCV003901803
Split hand-foot malformation 1	Pathogenic; Likely pathogenic	rs587777842, rs2485520889, rs398122527	RCV000144533 RCV003228726 RCV000144532
Split hand-foot malformation 1 with sensorineural hearing loss	Pathogenic	rs387906737	RCV000022921

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma	Associate	34477243
Auriculo condylar syndrome	Associate	22560091
Breast Neoplasms	Associate	26829219, 28747748
Colorectal Neoplasms	Associate	24485021
Developmental Disabilities	Associate	26829219, 27622494
Ectrodactyly	Associate	24496061, 25231166, 26829219, 27291887
Esophageal Squamous Cell Carcinoma	Associate	40244296
Foot Deformities	Associate	26829219
Glioblastoma	Associate	27863244, 32513296
Glioma	Associate	27863244
Hamartoma	Associate	21909471
Hypertrophy	Associate	32650430
Keloid	Associate	35047146
Lymphoma	Associate	26829219
Neuroblastoma	Associate	26786290
Odontogenic Tumors	Associate	36344906
Osteoarthritis	Associate	32650430
Osteoporosis	Associate	26829219
Periodontitis	Associate	27645561
Rett Syndrome	Associate	26829219

DLX5 (distal-less homeobox 5)