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	3211
Gene name	Homeobox B1
Gene symbol	HOXB1
Synonyms (NCBI Gene)	HCFP3HOX2HOX2IHox-2.9
Chromosome	17
Chromosome location	17q21.32
Summary	This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene cluster

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907239	G>A	Pathogenic	Coding sequence variant, missense variant
rs1247386618	G>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1555632121	C>T	Pathogenic	Coding sequence variant, missense variant

Show/Hide all (12)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018826	hsa-miR-335-5p	Microarray	18185580
MIRT030143	hsa-miR-26b-5p	Microarray	19088304
MIRT732950	hsa-let-7g-5p	Luciferase reporter assayWestern blottingqRT-PCR	32102121
MIRT733761	hsa-miR-130a-3p	Flow cytometryLuciferase reporter assayqRT-PCRWestern blotting	31432140
MIRT733761	hsa-miR-130a-3p	Luciferase reporter assayWestern blottingqRT-PCRFlow cytometry	31432140
MIRT2451324	hsa-miR-2110	CLIP-seq
MIRT2451325	hsa-miR-3150a-3p	CLIP-seq
MIRT2451326	hsa-miR-3170	CLIP-seq
MIRT2451327	hsa-miR-3175	CLIP-seq
MIRT2451328	hsa-miR-4650-5p	CLIP-seq
MIRT2451329	hsa-miR-661	CLIP-seq
MIRT2451330	hsa-miR-939	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
PBX1	Activation	17131398

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	9556594
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	9556594
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	IDA	9556594
GO:0003677	Function	DNA binding	IDA	10052460
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	10052460
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007389	Process	Pattern specification process	TAS	10052460
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0019904	Function	Protein domain specific binding	IPI	10052460
GO:0021546	Process	Rhombomere development	IEA
GO:0021570	Process	Rhombomere 4 development	IEA
GO:0021571	Process	Rhombomere 5 development	IEA
GO:0021612	Process	Facial nerve structural organization	IEA
GO:0021754	Process	Facial nucleus development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	9556594
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
142968	5111	ENSG00000120094

P14653

Protein name

Homeobox protein Hox-B1 (Homeobox protein Hox-2I)

Protein function

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures.

PDB

1B72

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	205 → 260	Homeodomain	Domain

Sequence

MDYNRMNSFLEYPLCNRGPSAYSAHSAPTSFPPSSAQAVDSYASEGRYGGGLSSPAFQQN
SGYPAQQPPSTLGVPFPSSAPSGYAPAACSPSYGPSQYYPLGQSEGDGGYFHPSSYGAQL
GGLSDGYGAGGAGPGPYPPQHPPYGNEQTASFAPAYADLLSEDKETPCPSEPNTPTARTF
DWMKVKRNPPKTAKVSEPGLGSPSGLRTNFTTRQLTELEKEFHFNKYLSRARRVEIAATL
ELNETQVKIWFQNRRMKQKKREREEGRVPPAPPGCPKEAAGDASDQSTCTSPEASPSSVT
S

Sequence length

301

Interactions

View interactions

	KEGG
	Signaling pathways regulating pluripotency of stem cells

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Facial paresis, hereditary congenital, 3	Pathogenic	rs387907239, rs1555632121, rs1247386618	RCV000029225 RCV000585798 RCV000585800

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs12950537	RCV004560313
HOXB1-related disorder	Likely benign; Benign	rs537352983, rs756198334, rs150583509, rs144625073	RCV003929793 RCV003911570 RCV003955687 RCV003928630

Show/Hide Text Mining Associations (9)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atypical Squamous Cells of the Cervix	Associate	16445654
Brachial Plexus Neuritis	Associate	38203298
Dermatomyositis	Associate	22674142
Endometrial Neoplasms	Associate	23167388
Facial paresis hereditary congenital	Associate	38203298
Glioma	Associate	26565624
Lung Neoplasms	Associate	32102121
Neoplasms	Associate	26565624
Strabismus	Associate	24612975

HOXB1 (homeobox B1)