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HMX2 H6 family homeobox 2 [ Homo sapiens (human) ]

Gene ID: 3167, updated on 9-Jun-2025
Official Symbol
HMX2provided by HGNC
Official Full Name
H6 family homeobox 2provided by HGNC
Primary source
HGNC:HGNC:5018
See related
Ensembl:ENSG00000188816 MIM:600647; AllianceGenome:HGNC:5018
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
H6L; Nkx5-2
Summary
The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in this family are of ancient origin and play an important role in organ development during embryogenesis. A related mouse protein plays a role in patterning of inner ear structures. In humans, variations in a region containing this gene have been associated with inner ear malformations, vestibular dysfunction, and hearing loss. [provided by RefSeq, Aug 2012]
Expression
Biased expression in kidney (RPKM 1.3) and duodenum (RPKM 0.1) See more
Orthologs
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See HMX2 in Genome Data Viewer
Location:
10q26.13
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (123148136..123150672)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (124023154..124025690)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124907652..124910188)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:124776916-124777782 Neighboring gene Sharpr-MPRA regulatory region 2783 Neighboring gene acyl-CoA dehydrogenase short/branched chain Neighboring gene Sharpr-MPRA regulatory region 13327 Neighboring gene VISTA enhancer hs1319 Neighboring gene VISTA enhancer hs329 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124878267-124878768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124878769-124879268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4146 Neighboring gene Sharpr-MPRA regulatory region 13916 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:124894701-124895651 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124896834-124897798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124898839-124899608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124901370-124902306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:124902307-124903243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2902 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2903 Neighboring gene Sharpr-MPRA regulatory region 2134 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4149 Neighboring gene H6 family homeobox 3 Neighboring gene Sharpr-MPRA regulatory region 11829 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4151 Neighboring gene BUB3 mitotic checkpoint protein Neighboring gene ribosomal protein S26 pseudogene 39

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
Products Interactant Other Gene Complex Source Pubs Description

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
homeobox protein HMX2
Names
homeo box (H6 family) 2
homeobox protein H6 family member 2

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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_005519.2NP_005510.1  homeobox protein HMX2

    See identical proteins and their annotated locations for NP_005510.1

    Status: REVIEWED

    Source sequence(s)
    AC012391, BQ929484
    Consensus CDS
    CCDS31305.1
    UniProtKB/Swiss-Prot
    A2RU54, B2RNV5
    Related
    ENSP00000341108.3, ENST00000339992.4
    Conserved Domains (1) summary
    pfam00046
    Location:152205
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    123148136..123150672
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    124023154..124025690
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)