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

Gene ID: 3167, updated on 13-Mar-2020

Summary

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
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

Genomic context

See HMX2 in Genome Data Viewer
Location:
10q26.13
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (123142421..123150673)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (124902006..124910188)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs329 Neighboring gene H6 family homeobox 3 Neighboring gene Sharpr-MPRA regulatory region 11829 Neighboring gene BUB3 mitotic checkpoint protein Neighboring gene ribosomal protein S26 pseudogene 39

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?

General gene information

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mRNA splicing, via spliceosome IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 

General protein information

Preferred Names
homeobox protein HMX2
Names
homeo box (H6 family) 2
homeobox protein H6 family member 2

NCBI Reference Sequences (RefSeq)

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_005519.1NP_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
    Related
    ENSP00000341108.3, ENST00000339992.3
    Conserved Domains (1) summary
    pfam00046
    Location:152205
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    123142421..123150673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269743.3XP_005269800.1  homeobox protein HMX2 isoform X1

    See identical proteins and their annotated locations for XP_005269800.1

    UniProtKB/Swiss-Prot
    A2RU54
    Conserved Domains (1) summary
    pfam00046
    Location:152205
    Homeobox; Homeobox domain
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