HOXB1 (homeobox B1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3211
Gene name Gene Name - the full gene name approved by the HGNC.
Homeobox B1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HOXB1
Synonyms (NCBI Gene) Gene synonyms aliases
HCFP3, HOX2, HOX2I, Hox-2.9
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HCFP3
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.32
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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 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
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
PBX1 Activation 17131398
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
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 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 9556594
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142968 5111 ENSG00000120094
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Signaling pathways regulating pluripotency of stem cells  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Anencephaly Cranioschisis rs773607884 10529420
Facial diplegia Facial paresis, hereditary, congenital, FACIAL PARESIS, HEREDITARY CONGENITAL, 3 rs387907239, rs1555632121, rs1247386618 24239177, 22770981
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Show/Hide Unknown Diseases (5)
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Facial paralysis congenital hereditary facial paralysis-variable hearing loss syndrome GenCC
Insomnia Insomnia GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Show/Hide Text Mining Associations (9)
Associations from Text Mining
Disease Name Relationship Type References
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