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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1748
Gene name	Distal-less homeobox 4
Gene symbol	DLX4
Synonyms (NCBI Gene)	BP1DLX7DLX8DLX9OFC15
Chromosome	17
Chromosome location	17q21.33
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs869025279	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT039137	hsa-miR-769-3p	CLASH	23622248
MIRT573291	hsa-miR-6819-3p	PAR-CLIP	20371350
MIRT573290	hsa-miR-6877-3p	PAR-CLIP	20371350
MIRT573289	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT573288	hsa-miR-2114-3p	PAR-CLIP	20371350
MIRT573286	hsa-miR-6823-3p	PAR-CLIP	20371350
MIRT573287	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT573285	hsa-miR-4452	PAR-CLIP	20371350
MIRT439166	hsa-let-7c-5p	3'LIFE	25074381
MIRT439166	hsa-let-7c-5p	3'LIFE	25074381
MIRT573291	hsa-miR-6819-3p	PAR-CLIP	20371350
MIRT573290	hsa-miR-6877-3p	PAR-CLIP	20371350
MIRT573289	hsa-miR-95-5p	PAR-CLIP	20371350
MIRT573288	hsa-miR-2114-3p	PAR-CLIP	20371350
MIRT573286	hsa-miR-6823-3p	PAR-CLIP	20371350
MIRT573287	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT573285	hsa-miR-4452	PAR-CLIP	20371350
MIRT939000	hsa-miR-1178	CLIP-seq
MIRT939001	hsa-miR-185	CLIP-seq
MIRT939002	hsa-miR-3140-3p	CLIP-seq
MIRT939003	hsa-miR-3150b-3p	CLIP-seq
MIRT939004	hsa-miR-3185	CLIP-seq
MIRT939005	hsa-miR-323-5p	CLIP-seq
MIRT939006	hsa-miR-4270	CLIP-seq
MIRT939007	hsa-miR-4306	CLIP-seq
MIRT939008	hsa-miR-4436b-5p	CLIP-seq
MIRT939009	hsa-miR-4441	CLIP-seq
MIRT939010	hsa-miR-4447	CLIP-seq
MIRT939011	hsa-miR-4472	CLIP-seq
MIRT939012	hsa-miR-4481	CLIP-seq
MIRT939013	hsa-miR-4644	CLIP-seq
MIRT939014	hsa-miR-4745-5p	CLIP-seq
MIRT939015	hsa-miR-4784	CLIP-seq
MIRT939016	hsa-miR-876-3p	CLIP-seq
MIRT939017	hsa-miR-1275	CLIP-seq
MIRT939004	hsa-miR-3185	CLIP-seq
MIRT939018	hsa-miR-3688-5p	CLIP-seq
MIRT939010	hsa-miR-4447	CLIP-seq
MIRT939011	hsa-miR-4472	CLIP-seq
MIRT939012	hsa-miR-4481	CLIP-seq
MIRT939019	hsa-miR-4525	CLIP-seq
MIRT939020	hsa-miR-4665-5p	CLIP-seq
MIRT939021	hsa-miR-4723-5p	CLIP-seq
MIRT939014	hsa-miR-4745-5p	CLIP-seq
MIRT939022	hsa-miR-625	CLIP-seq
MIRT1977814	hsa-miR-3675-5p	CLIP-seq
MIRT1977815	hsa-miR-661	CLIP-seq
MIRT2213127	hsa-miR-1286	CLIP-seq
MIRT2213128	hsa-miR-1343	CLIP-seq
MIRT2213129	hsa-miR-3144-5p	CLIP-seq
MIRT2213130	hsa-miR-3191	CLIP-seq
MIRT2213131	hsa-miR-378g	CLIP-seq
MIRT2213132	hsa-miR-4314	CLIP-seq
MIRT2213133	hsa-miR-4476	CLIP-seq
MIRT2213134	hsa-miR-4652-5p	CLIP-seq
MIRT2213135	hsa-miR-4667-5p	CLIP-seq
MIRT2213136	hsa-miR-4700-5p	CLIP-seq
MIRT2213137	hsa-miR-4722-5p	CLIP-seq
MIRT2213138	hsa-miR-508-5p	CLIP-seq
MIRT2213139	hsa-miR-637	CLIP-seq
MIRT2213140	hsa-miR-766	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	11909945
GO:0000785	Component	Chromatin	ISA
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	IDA	11909945
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	11909945
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	11069021
GO:0003700	Function	DNA-binding transcription factor activity	TAS	8975708
GO:0005515	Function	Protein binding	IPI	17474147, 21297662
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	11069021
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	11069021
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0030154	Process	Cell differentiation	IBA
GO:0043565	Function	Sequence-specific DNA binding	IDA	9073066
GO:0048706	Process	Embryonic skeletal system development	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601911	2917	ENSG00000108813

Q92988

Protein name

Homeobox protein DLX-4 (Beta protein 1) (Homeobox protein DLX-7) (Homeobox protein DLX-8)

Protein function

May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	118 → 174	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in leukemia cells and placenta. Also expressed in kidney and fetal liver. {ECO:0000269|PubMed:11069021, ECO:0000269|PubMed:11909945}.

Sequence

MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAASPNLSYSRPYGHLLSYPYT
EPANPGDSYLSCQQPAALSQPLCGPAEHPQELEADSEKPRLSPEPSERRPQAPAKKLRKP
RTIYSSLQLQHLNQRFQHTQYLALPERAQLAAQLGLTQTQVKIWFQNKRSKYKKLLKQNS
GGQEGDFPGRTFSVSPCSPPLPSLWDLPKAGTLPTSGYGNSFGAWYQHHSSDVLASPQMM

Sequence length

240

Interactions

View interactions

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs138634383	RCV005911920
Cholangiocarcinoma	Likely benign	rs138634383	RCV005911924
DLX4-related disorder	Likely benign; Uncertain significance	rs200168432, rs145781048, rs749783136, rs150742579, rs200916126, rs769369952, rs893572771, rs151318731	RCV003923820 RCV003904652 RCV003901882 RCV003943948 RCV003956724 RCV003967000 RCV004757623 RCV003928506
Familial cancer of breast	Likely benign	rs138634383	RCV005911919
Gastric cancer	Likely benign	rs138634383	RCV005911922
Orofacial cleft 15	Uncertain significance; Benign; Likely benign	rs869025279, rs200579401	RCV000207311 RCV002505308
Ovarian serous cystadenocarcinoma	Likely benign	rs138634383	RCV005911923
Sarcoma	Likely benign	rs138634383	RCV005911921

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	22143938
Breast Neoplasms	Associate	17854498, 23091415, 24947980
Breast Neoplasms	Stimulate	19119308
Carcinogenesis	Associate	15161049
Carcinoma Ductal Breast	Associate	17854498
Carcinoma Renal Cell	Associate	31739630, 35983409
Dental Caries	Associate	34311721
Gestational Trophoblastic Disease	Associate	39632297
Hereditary Breast and Ovarian Cancer Syndrome	Associate	23222298
Leukemia	Associate	23091415, 26753961, 9096378
Leukemia Erythroblastic Acute	Associate	15308321
Leukemia Lymphocytic Chronic B Cell	Associate	20484983
Leukemia Myeloid Acute	Associate	26753961
Lymphatic Metastasis	Associate	24947980
Nasopharyngeal Carcinoma	Associate	32281175
Neoplasm Metastasis	Associate	23091415
Neoplasms	Associate	17854498, 21297662, 23091415, 23222298, 26753961, 32281175, 36609218, 39632297
Odontogenic Tumors	Associate	36344906
Ovarian Neoplasms	Associate	21297662, 23091415
Thyroid Cancer Papillary	Associate	36609218
Thyroid Carcinoma Anaplastic	Associate	36609218
Thyroid Neoplasms	Associate	36609218

DLX4 (distal-less homeobox 4)