HOXB1 (homeobox B1)

Gene

• Entrez ID: 3211
• Gene name: Homeobox B1
• Gene symbol: HOXB1
• Synonyms (NCBI Gene): HCFP3, HOX2, HOX2I, Hox-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

SNPs

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

miRNA

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 assay, Western blotting, qRT-PCR	32102121
MIRT733761	hsa-miR-130a-3p	Flow cytometry, Luciferase reporter assay, qRT-PCR, Western blotting	31432140
MIRT733761	hsa-miR-130a-3p	Luciferase reporter assay, Western blotting, qRT-PCR, Flow 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

Transcription factors

Transcription factor	Regulation	Reference
PBX1	Activation	17131398

Gene ontology (GO)

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

Other IDs

• MIM: 142968
• HGNC: 5111
• e!Ensembl: ENSG00000120094

Protein

• UniProt ID: 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

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Facial paresis, hereditary congenital, 3	Pathogenic	rs387907239, rs1555632121, rs1247386618	RCV000029225 RCV000585798 RCV000585800	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEREDITARY FACIAL PARALYSIS WITH VARIABLE HEARING LOSS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEREDITARY FACIAL PARALYSIS-VARIABLE HEARING LOSS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL PARESIS, HEREDITARY, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOXB1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	1351762		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	11091361, 21980499		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	11091361, 11840501, 14681917		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachial Plexus Neuritis	Brachial plexus neuritis	Pubtator	38203298	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23053648		★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	8348155		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16445654		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	CTD_human_DG	10529420		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cranioschisis	Anencephaly	CTD_human_DG	10529420		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	22674142	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23167388	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paresis hereditary congenital	Facial nerve disorder	Pubtator	38203298	Associate	★☆☆☆☆ Found in Text Mining only
FACIAL PARESIS, HEREDITARY CONGENITAL, 3	Facial diplegia	GENOMICS_ENGLAND_DG	22770981		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FACIAL PARESIS, HEREDITARY CONGENITAL, 3	Facial diplegia	UNIPROT_DG	22770981		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FACIAL PARESIS, HEREDITARY CONGENITAL, 3	Facial diplegia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Facial paresis, hereditary, congenital	Facial diplegia	CTD_human_DG	24239177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	1360433		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	1360433		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26565624		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	26565624	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1351762		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	7678830		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	30214043		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32102121	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23053648		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26565624		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	23053648		★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	24612975, 26007620		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16541397		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23053648, 26565624		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	1360433		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	2491782, 2491784, 2896630		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30551492		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	1351762		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	1351762		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	1351762		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	1379214		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1379214		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	22770981		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	24612975	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	29923154		★☆☆☆☆ Found in Text Mining only