HOXB8 (homeobox B8)

Gene

• Entrez ID: 3218
• Gene name: Homeobox B8
• Gene symbol: HOXB8
• Synonyms (NCBI Gene): HOX2, HOX2D, Hox-2.4
• 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

miRTarBase ID	miRNA	Experiments	Reference
MIRT002266	hsa-miR-196a-5p	Western blot	19418581
MIRT002266	hsa-miR-196a-5p	Luciferase reporter assay	18493311
MIRT001042	hsa-miR-196b-5p	Luciferase reporter assay	18493311
MIRT002266	hsa-miR-196a-5p	Review	20029422
MIRT001042	hsa-miR-196b-5p	Review	20029422
MIRT002266	hsa-miR-196a-5p	Luciferase reporter assay	15105502
MIRT002266	hsa-miR-196a-5p	Luciferase reporter assay, Northern blot, Western blot	17150553
MIRT025552	hsa-miR-34a-5p	Sequencing	20371350
MIRT002266	hsa-miR-196a-5p	CLASH	23622248
MIRT044624	hsa-miR-320a	CLASH	23622248
MIRT001042	hsa-miR-196b-5p	CLASH	23622248
MIRT002266	hsa-miR-196a-5p	EMSA, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR	24727796
MIRT002266	hsa-miR-196a-5p	EMSA, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR	24727796
MIRT724833	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT724832	hsa-miR-4422	HITS-CLIP	19536157
MIRT724831	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT724830	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT724829	hsa-miR-129-1-3p	HITS-CLIP	19536157
MIRT724828	hsa-miR-129-2-3p	HITS-CLIP	19536157
MIRT724827	hsa-miR-1470	HITS-CLIP	19536157
MIRT724826	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT724825	hsa-miR-4469	HITS-CLIP	19536157
MIRT724824	hsa-miR-4290	HITS-CLIP	19536157
MIRT484728	hsa-miR-3154	PAR-CLIP	22012620
MIRT484727	hsa-miR-7515	PAR-CLIP	22012620
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	22012620
MIRT484728	hsa-miR-3154	PAR-CLIP	24398324
MIRT500241	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT484727	hsa-miR-7515	PAR-CLIP	24398324
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	24398324
MIRT491468	hsa-miR-4479	PAR-CLIP	23592263
MIRT491469	hsa-miR-3960	PAR-CLIP	23592263
MIRT491467	hsa-miR-8072	PAR-CLIP	23592263
MIRT491466	hsa-miR-4515	PAR-CLIP	23592263
MIRT491465	hsa-miR-4634	PAR-CLIP	23592263
MIRT491464	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT491463	hsa-miR-663a	PAR-CLIP	23592263
MIRT491462	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT491461	hsa-miR-3199	PAR-CLIP	23592263
MIRT491460	hsa-miR-8052	PAR-CLIP	23592263
MIRT491459	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT484728	hsa-miR-3154	PAR-CLIP	23592263
MIRT484727	hsa-miR-7515	PAR-CLIP	23592263
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT484728	hsa-miR-3154	PAR-CLIP	23592263
MIRT484727	hsa-miR-7515	PAR-CLIP	23592263
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT484728	hsa-miR-3154	PAR-CLIP	27292025
MIRT484728	hsa-miR-3154	PAR-CLIP	27292025
MIRT484728	hsa-miR-3154	PAR-CLIP	27292025
MIRT500241	hsa-miR-6760-5p	PAR-CLIP	27292025
MIRT500241	hsa-miR-6760-5p	PAR-CLIP	27292025
MIRT500241	hsa-miR-6760-5p	PAR-CLIP	27292025
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	27292025
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	27292025
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	27292025
MIRT484727	hsa-miR-7515	PAR-CLIP	27292025
MIRT484727	hsa-miR-7515	PAR-CLIP	27292025
MIRT484727	hsa-miR-7515	PAR-CLIP	27292025
MIRT737235	hsa-miR-2682-5p	Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR	32989886
MIRT724833	hsa-miR-6835-3p	HITS-CLIP	19536157
MIRT724832	hsa-miR-4422	HITS-CLIP	19536157
MIRT724831	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT724830	hsa-miR-6779-3p	HITS-CLIP	19536157
MIRT724829	hsa-miR-129-1-3p	HITS-CLIP	19536157
MIRT724828	hsa-miR-129-2-3p	HITS-CLIP	19536157
MIRT724827	hsa-miR-1470	HITS-CLIP	19536157
MIRT724826	hsa-miR-4667-3p	HITS-CLIP	19536157
MIRT724825	hsa-miR-4469	HITS-CLIP	19536157
MIRT724824	hsa-miR-4290	HITS-CLIP	19536157
MIRT484728	hsa-miR-3154	PAR-CLIP	22012620
MIRT484727	hsa-miR-7515	PAR-CLIP	22012620
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	22012620
MIRT484728	hsa-miR-3154	PAR-CLIP	24398324
MIRT500241	hsa-miR-6760-5p	PAR-CLIP	24398324
MIRT484727	hsa-miR-7515	PAR-CLIP	24398324
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	24398324
MIRT491468	hsa-miR-4479	PAR-CLIP	23592263
MIRT491469	hsa-miR-3960	PAR-CLIP	23592263
MIRT491467	hsa-miR-8072	PAR-CLIP	23592263
MIRT491466	hsa-miR-4515	PAR-CLIP	23592263
MIRT491465	hsa-miR-4634	PAR-CLIP	23592263
MIRT491464	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT491463	hsa-miR-663a	PAR-CLIP	23592263
MIRT491462	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT491461	hsa-miR-3199	PAR-CLIP	23592263
MIRT491460	hsa-miR-8052	PAR-CLIP	23592263
MIRT491459	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT484728	hsa-miR-3154	PAR-CLIP	23592263
MIRT484727	hsa-miR-7515	PAR-CLIP	23592263
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT484728	hsa-miR-3154	PAR-CLIP	23592263
MIRT484727	hsa-miR-7515	PAR-CLIP	23592263
MIRT484726	hsa-miR-6770-5p	PAR-CLIP	23592263
MIRT1053401	hsa-miR-1224-5p	CLIP-seq
MIRT1053402	hsa-miR-1293	CLIP-seq
MIRT1053403	hsa-miR-186	CLIP-seq
MIRT1053404	hsa-miR-4311	CLIP-seq
MIRT1053405	hsa-miR-4483	CLIP-seq
MIRT1053406	hsa-miR-4651	CLIP-seq
MIRT1053407	hsa-miR-4751	CLIP-seq
MIRT1053408	hsa-miR-608	CLIP-seq
MIRT1053409	hsa-miR-765	CLIP-seq
MIRT2012155	hsa-miR-1909	CLIP-seq
MIRT2012156	hsa-miR-3178	CLIP-seq
MIRT2012157	hsa-miR-4467	CLIP-seq
MIRT2244459	hsa-miR-3121-5p	CLIP-seq
MIRT2244460	hsa-miR-4419a	CLIP-seq
MIRT2244461	hsa-miR-4510	CLIP-seq
MIRT2244462	hsa-miR-4720-3p	CLIP-seq
MIRT2244463	hsa-miR-4804-3p	CLIP-seq
MIRT2244464	hsa-miR-500a	CLIP-seq
MIRT2244465	hsa-miR-501-5p	CLIP-seq
MIRT2244466	hsa-miR-605	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HOXC10	Repression	18534812
HOXC9	Repression	18534812

Gene ontology (GO)

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
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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
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:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007625	Process	Grooming behavior	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0021516	Process	Dorsal spinal cord development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	ISS
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 142963
• HGNC: 5119
• e!Ensembl: ENSG00000120068

Protein

• UniProt ID: P17481
• Protein name: Homeobox protein Hox-B8 (Homeobox protein Hox-2.4) (Homeobox protein Hox-2D)
• 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	147 → 203	Homeodomain	Domain

• Sequence:

  MSSYFVNSLFSKYKTGESLRPNYYDCGFAQDLGGRPTVVYGPSSGGSFQHPSQIQEFYHG
  PSSLSTAPYQQNPCAVACHGDPGNFYGYDPLQRQSLFGAQDPDLVQYADCKLAAASGLGE
  EAEGSEQSPSPTQLFPWMRPQAAAGRRRGRQTYSRYQTLELEKEFLFNPYLTRKRRIEVS
  HALGLTERQVKIWFQNRRMKWKKENNKDKFPSSKCEQEELEKQKLERAPEAADEGDAQKG
  DKK

• Sequence length: 243

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
OBSESSIVE-COMPULSIVE DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICHOTILLOMANIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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
Alopecia	Alopecia	BEFREE	27621227		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	27621227		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27621227		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28948967		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31097355		★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	8348155		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31978895	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34839022	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30657550		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30657550		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31978895	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33985413	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30622439, 30677006, 31591481		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19401702, 23721165, 29483812, 35448980	Associate	★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	27942017		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	27942017		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	1360433, 31646435		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31646435	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	1360433, 31646435		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	31646435	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1351762		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25855932	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	7678830		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31097355		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31827394		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30622439		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30657550		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30954562, 31646435, 9126347		★☆☆☆☆ 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
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	CTD_human_DG	11779477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	20510925, 28948967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	BEFREE	30954562		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31271703	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31827394		★☆☆☆☆ 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
Renal carcinoma	Renal Carcinoma	BEFREE	1379214		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1379214		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27761656		★☆☆☆☆ Found in Text Mining only
Trichotillomania	Trichotillomania	CTD_human_DG	11779477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichotillomania	Trichotillomania	BEFREE	20510925, 28948967		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25563170, 30657550	Associate	★☆☆☆☆ Found in Text Mining only