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.	127343
Gene name Gene Name - the full gene name approved by the HGNC.	Diencephalon/mesencephalon homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	DMBX1
Synonyms (NCBI Gene) Gene synonyms aliases	Atx, MBX, OTX3, PAXB
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(104)

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

Show/Hide all(20)

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	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
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	ISS
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007417	Process	Central nervous system development	ISS
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	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0048589	Process	Developmental growth	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
607410	19026	ENSG00000197587

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670 View all (165 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Evidence	Source
Unknown
Neurodevelopmental Disorders	complex neurodevelopmental disorder		GenCC
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587	GWAS, CBGDA

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text Mining
Carcinoma Hepatocellular	Associate	33524552
Cholangiocarcinoma	Associate	34080753
COVID 19	Associate	34907210
Diabetes Mellitus Type 2	Associate	35046895
Lymphatic Metastasis	Associate	33524552
Neoplasm Metastasis	Associate	33524552
Neoplasms	Associate	33524552
Organizing Pneumonia	Associate	34907210
Prostatic Neoplasms	Associate	30444038

DMBX1 (diencephalon/mesencephalon homeobox 1)