Gene Gene information from NCBI Gene database.
Entrez ID 3214
Gene name Homeobox B4
Gene symbol HOXB4
Synonyms (NCBI Gene)
HOX-2.6HOX2HOX2F
Chromosome 17
Chromosome location 17q21.32
Summary This gene is a member of the Antp homeobox family and encodes a nuclear protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox B genes located on chromosome 17. The encoded protein functions as a sequence-specific transcriptio
miRNA miRNA information provided by mirtarbase database.
116
miRTarBase ID miRNA Experiments Reference
MIRT052567 hsa-let-7a-5p CLASH 23622248
MIRT437889 hsa-miR-23a-3p Luciferase reporter assayWestern blot 23630040
MIRT1053331 hsa-miR-1 CLIP-seq
MIRT1053332 hsa-miR-1262 CLIP-seq
MIRT1053333 hsa-miR-206 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
6
Transcription factor Regulation Reference
MITF Unknown 11085749
NFYA Activation 12791656
USF1 Activation 12791656
USF1 Unknown 11085749
USF2 Activation 12791656
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142965 5115 ENSG00000182742
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17483
Protein name Homeobox protein Hox-B4 (Homeobox protein Hox-2.6) (Homeobox protein Hox-2F)
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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 163 219 Homeodomain Domain
Sequence
MAMSSFLINSNYVDPKFPPCEEYSQSDYLPSDHSPGYYAGGQRRESSFQPEAGFGRRAAC
TVQRYAACRDPGPPPPPPPPPPPPPPPGLSPRAPAPPPAGALLPEPGQRCEAVSSSPPPP
PCAQNPLHPSPSHSACKEPVVYPWMRKVHVSTVNPNYAGGEPKRSRTAYTRQQVLELEKE
FHYNRYLTRRRRVEIAHALCLSERQIKIWFQNRRMKWKK
DHKLPNTKIRSGGAAGSAGGP
PGRPNGGPRAL
Sequence length 251
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
INSOMNIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 27827825
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 1351762
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27782156
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 29039487
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 23028422 Associate
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 23028422
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 11984874 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29085460
★☆☆☆☆
Found in Text Mining only
CAMPOMELIC DYSPLASIA Campomelic Dysplasia BEFREE 8348155
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Basal cell carcinoma Pubtator 11984874 Associate
★☆☆☆☆
Found in Text Mining only