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	127343
Gene name	Diencephalon/mesencephalon homeobox 1
Gene symbol	DMBX1
Synonyms (NCBI Gene)	AtxMBXOTX3PAXB
Chromosome	1
Chromosome location	1p33
Summary	This gene encodes a member of the bicoid sub-family of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and may play a role in brain and sensory organ development. Two transcript variants encoding distinct i

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SNP ID	Visualize variation	Clinical significance	Consequence
rs730882203	C>T	Likely-pathogenic	Coding sequence variant, missense variant

104

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017349	hsa-miR-335-5p	Microarray	18185580
MIRT738358	hsa-miR-4539	HITS-CLIP	33718276
MIRT939041	hsa-miR-1184	CLIP-seq
MIRT939042	hsa-miR-122	CLIP-seq
MIRT939043	hsa-miR-1227	CLIP-seq
MIRT939044	hsa-miR-1234	CLIP-seq
MIRT939045	hsa-miR-1301	CLIP-seq
MIRT939046	hsa-miR-150	CLIP-seq
MIRT939047	hsa-miR-1976	CLIP-seq
MIRT939048	hsa-miR-3135b	CLIP-seq
MIRT939049	hsa-miR-3622b-5p	CLIP-seq
MIRT939050	hsa-miR-3652	CLIP-seq
MIRT939051	hsa-miR-4419a	CLIP-seq
MIRT939052	hsa-miR-4430	CLIP-seq
MIRT939053	hsa-miR-4436a	CLIP-seq
MIRT939054	hsa-miR-4438	CLIP-seq
MIRT939055	hsa-miR-4510	CLIP-seq
MIRT939056	hsa-miR-455-5p	CLIP-seq
MIRT939057	hsa-miR-4660	CLIP-seq
MIRT939058	hsa-miR-4665-3p	CLIP-seq
MIRT939059	hsa-miR-4695-3p	CLIP-seq
MIRT939060	hsa-miR-4715-3p	CLIP-seq
MIRT939061	hsa-miR-4722-3p	CLIP-seq
MIRT939062	hsa-miR-4763-5p	CLIP-seq
MIRT939063	hsa-miR-5047	CLIP-seq
MIRT939064	hsa-miR-5095	CLIP-seq
MIRT939065	hsa-miR-512-5p	CLIP-seq
MIRT939066	hsa-miR-562	CLIP-seq
MIRT939067	hsa-miR-615-5p	CLIP-seq
MIRT1977816	hsa-miR-1181	CLIP-seq
MIRT939042	hsa-miR-122	CLIP-seq
MIRT939043	hsa-miR-1227	CLIP-seq
MIRT939048	hsa-miR-3135b	CLIP-seq
MIRT939049	hsa-miR-3622b-5p	CLIP-seq
MIRT939050	hsa-miR-3652	CLIP-seq
MIRT939052	hsa-miR-4430	CLIP-seq
MIRT939060	hsa-miR-4715-3p	CLIP-seq
MIRT939064	hsa-miR-5095	CLIP-seq
MIRT939062	hsa-miR-4763-5p	CLIP-seq
MIRT1977816	hsa-miR-1181	CLIP-seq
MIRT2386939	hsa-miR-4772-3p	CLIP-seq
MIRT2386940	hsa-miR-483-3p	CLIP-seq
MIRT2386941	hsa-miR-891b	CLIP-seq
MIRT2448375	hsa-miR-1321	CLIP-seq
MIRT2448376	hsa-miR-4739	CLIP-seq
MIRT2448377	hsa-miR-4756-5p	CLIP-seq
MIRT2448378	hsa-miR-1253	CLIP-seq
MIRT2448378	hsa-miR-1253	CLIP-seq
MIRT2448375	hsa-miR-1321	CLIP-seq
MIRT2465186	hsa-miR-3162-5p	CLIP-seq
MIRT2448376	hsa-miR-4739	CLIP-seq
MIRT2448377	hsa-miR-4756-5p	CLIP-seq
MIRT2465187	hsa-miR-765	CLIP-seq
MIRT2448378	hsa-miR-1253	CLIP-seq
MIRT2516954	hsa-miR-548aa	CLIP-seq
MIRT1977816	hsa-miR-1181	CLIP-seq
MIRT939042	hsa-miR-122	CLIP-seq
MIRT939043	hsa-miR-1227	CLIP-seq
MIRT2448378	hsa-miR-1253	CLIP-seq
MIRT2516955	hsa-miR-1307	CLIP-seq
MIRT939048	hsa-miR-3135b	CLIP-seq
MIRT2516956	hsa-miR-3149	CLIP-seq
MIRT939049	hsa-miR-3622b-5p	CLIP-seq
MIRT939050	hsa-miR-3652	CLIP-seq
MIRT2516957	hsa-miR-371b-5p	CLIP-seq
MIRT2516958	hsa-miR-4284	CLIP-seq
MIRT939052	hsa-miR-4430	CLIP-seq
MIRT939054	hsa-miR-4438	CLIP-seq
MIRT2516959	hsa-miR-4461	CLIP-seq
MIRT939056	hsa-miR-455-5p	CLIP-seq
MIRT2516960	hsa-miR-4638-5p	CLIP-seq
MIRT939059	hsa-miR-4695-3p	CLIP-seq
MIRT2516961	hsa-miR-4698	CLIP-seq
MIRT939060	hsa-miR-4715-3p	CLIP-seq
MIRT2516962	hsa-miR-4735-5p	CLIP-seq
MIRT2386939	hsa-miR-4772-3p	CLIP-seq
MIRT2516963	hsa-miR-4775	CLIP-seq
MIRT939064	hsa-miR-5095	CLIP-seq
MIRT2516964	hsa-miR-580	CLIP-seq
MIRT2516965	hsa-miR-590-3p	CLIP-seq
MIRT2386941	hsa-miR-891b	CLIP-seq
MIRT1977816	hsa-miR-1181	CLIP-seq
MIRT939042	hsa-miR-122	CLIP-seq
MIRT939043	hsa-miR-1227	CLIP-seq
MIRT2448378	hsa-miR-1253	CLIP-seq
MIRT2516955	hsa-miR-1307	CLIP-seq
MIRT939048	hsa-miR-3135b	CLIP-seq
MIRT939049	hsa-miR-3622b-5p	CLIP-seq
MIRT939050	hsa-miR-3652	CLIP-seq
MIRT2516958	hsa-miR-4284	CLIP-seq
MIRT939052	hsa-miR-4430	CLIP-seq
MIRT939054	hsa-miR-4438	CLIP-seq
MIRT939056	hsa-miR-455-5p	CLIP-seq
MIRT2516960	hsa-miR-4638-5p	CLIP-seq
MIRT939059	hsa-miR-4695-3p	CLIP-seq
MIRT939060	hsa-miR-4715-3p	CLIP-seq
MIRT2516962	hsa-miR-4735-5p	CLIP-seq
MIRT2386939	hsa-miR-4772-3p	CLIP-seq
MIRT2516963	hsa-miR-4775	CLIP-seq
MIRT939064	hsa-miR-5095	CLIP-seq
MIRT2516954	hsa-miR-548aa	CLIP-seq
MIRT2516965	hsa-miR-590-3p	CLIP-seq
MIRT2386941	hsa-miR-891b	CLIP-seq
MIRT2448378	hsa-miR-1253	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription 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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0008343	Process	Adult feeding behavior	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0048589	Process	Developmental growth	IEA
GO:0048589	Process	Developmental growth	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
607410	19026	ENSG00000197587

Q8NFW5

Protein name

Diencephalon/mesencephalon homeobox protein 1 (Orthodenticle homolog 3) (Paired-like homeobox protein DMBX1)

Protein function

Functions as a transcriptional repressor. May repress OTX2-mediated transactivation by forming a heterodimer with OTX2 on the P3C (5'-TAATCCGATTA-3') sequence. Required for brain development (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	72 → 128	Homeodomain	Domain
PF03826	OAR	356 → 373	OAR motif	Motif

Sequence

MQHYGVNGYSLHAMNSLSAMYNLHQQAAQQAQHAPDYRPSVHALTLAERLAGCTFQDIIL
EARYGSQHRKQRRSRTAFTAQQLEALEKTFQKTHYPDVVMRERLAMCTNLPEARVQVWFK
NRRAKFRKKQRSLQKEQLQKQKEAEGSHGEGKAEAPTPDTQLDTEQPPRLPGSDPPAELH
LSLSEQSASESAPEDQPDREEDPRAGAEDPKAEKSPGADSKGLGCKRGSPKADSPGSLTI
TPVAPGGGLLGPSHSYSSSPLSLFRLQEQFRQHMAATNNLVHYSSFEVGGPAPAAAAAAA
AVPYLGVNMAPLGSLHCQSYYQSLSAAAAAHQGVWGSPLLPAPPAGLAPASATLNSKTTS
IENLRLRAKQHAASLGLDTLPN

Sequence length

382

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 (10)

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.
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DMBX1-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING IMPAIRMENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STRABISMUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30928384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33524552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	LHGDN	17990594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34080753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35046895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33524552	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	23235340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30928384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	24227910		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30444038	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	23235340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DMBX1 (diencephalon/mesencephalon homeobox 1)