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HOXB2 homeobox B2 [ Homo sapiens (human) ]

Gene ID: 3212, updated on 7-Apr-2024

Summary

Official Symbol
HOXB2provided by HGNC
Official Full Name
homeobox B2provided by HGNC
Primary source
HGNC:HGNC:5113
See related
Ensembl:ENSG00000173917 MIM:142967; AllianceGenome:HGNC:5113
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
K8; HOX2; HOX2H; Hox-2.8
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 transcription factor that is involved in development. Increased expression of this gene is associated with pancreatic cancer. [provided by RefSeq, Jul 2008]
Expression
Broad expression in kidney (RPKM 11.3), fat (RPKM 6.5) and 19 other tissues See more
Orthologs
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Genomic context

Location:
17q21.32
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (48542655..48545109, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (49406234..49408688, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (46620017..46622471, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:46597283-46597974 Neighboring gene uncharacterized LOC105371808 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:46597975-46598664 Neighboring gene Sharpr-MPRA regulatory region 4378 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46608263-46608843 Neighboring gene homeobox B1 Neighboring gene Sharpr-MPRA regulatory region 4554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46620694-46621339 Neighboring gene HOXB cluster antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:46629432-46630177 Neighboring gene homeobox B3 Neighboring gene HOXB cluster antisense RNA 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:46641715-46642519 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr17:46647249-46648100 Neighboring gene homeobox B4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anterior/posterior pattern specification IEA
Inferred from Electronic Annotation
more info
 
involved_in dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in facial nerve structural organization IEA
Inferred from Electronic Annotation
more info
 
involved_in morphogenesis of an epithelial sheet IEA
Inferred from Electronic Annotation
more info
 
involved_in nervous system development NAS
Non-traceable Author Statement
more info
PubMed 
involved_in neural nucleus development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in rhombomere 3 development IEA
Inferred from Electronic Annotation
more info
 
involved_in rhombomere 4 development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
homeobox protein Hox-B2
Names
K8 home protein
homeo box 2H
homeo box B2
homeobox protein Hox-2.8
homeobox protein Hox-2H

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_002145.4NP_002136.1  homeobox protein Hox-B2

    See identical proteins and their annotated locations for NP_002136.1

    Status: REVIEWED

    Source sequence(s)
    AC103702, BC038968, X16665
    Consensus CDS
    CCDS11527.1
    UniProtKB/Swiss-Prot
    P10913, P14652, P17485
    Related
    ENSP00000331741.4, ENST00000330070.6
    Conserved Domains (1) summary
    pfam00046
    Location:147199
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    48542655..48545109 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257275.5XP_005257332.1  homeobox protein Hox-B2 isoform X1

    Conserved Domains (1) summary
    pfam00046
    Location:3890
    Homeobox; Homeobox domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    49406234..49408688 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315916.1XP_054171891.1  homeobox protein Hox-B2 isoform X1