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 ... See more...

Aliases for HMX2 Gene

Aliases for HMX2 Gene

  • H6 Family Homeobox 2 2 3 5
  • Homeobox Protein H6 Family Member 2 3 4
  • Homeo Box (H6 Family) 2 2 3
  • Homeobox Protein HMX2 3 4
  • Nkx5-2 3
  • H6L 3

External Ids for HMX2 Gene

Previous GeneCards Identifiers for HMX2 Gene

  • GC10U990031
  • GC08M023560
  • GC10P124448
  • GC10P124897
  • GC04M9P0040
  • GC10P118525

Summaries for HMX2 Gene

Entrez Gene Summary for HMX2 Gene

  • 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]

GeneCards Summary for HMX2 Gene

HMX2 (H6 Family Homeobox 2) is a Protein Coding gene. Diseases associated with HMX2 include Oculoauricular Syndrome and Muenke Syndrome. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HMX3.

UniProtKB/Swiss-Prot Summary for HMX2 Gene

  • Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.

Additional gene information for HMX2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HMX2 Gene

Genomics for HMX2 Gene

GeneHancer (GH) Regulatory Elements for HMX2 Gene

Promoters and enhancers for HMX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J123147 Promoter/Enhancer 1 EPDnew ENCODE 500.4 +5.6 5639 0.2 GABPA ZBTB26 POLR2A EZH2 SP2 ZBTB17 TFDP1 SAP130 POLR2G PHF8 HMX2 BUB3
GH10J123143 Enhancer 0.8 VISTA ENCODE 500.7 +1.9 1902 1.8 CTCF EZH2 SMC3 ZFHX2 SUZ12 CBX2 RAD21 NR2F6 SMARCA4 RNF2 HMX2 BUB3
GH10J123142 Promoter 0.7 EPDnew 500.7 0.0 -39 0.1 POLR2G RNF2 EZH2 SUZ12 RBM22 RBFOX2 HNRNPLL HMX2 HMX3
GH10J123140 Enhancer 0.6 ENCODE 500.7 -1.9 -1921 0.2 RAD21 EZH2 CTCF POLR2G MBD1 GABPB1 TAF15 RNF2 ZBTB33 HDAC2 HMX2 HMX3
GH10J123139 Enhancer 0.9 ENCODE 0.7 -3.1 -3097 1.7 POLR2G TCF7 AFF1 REST MYC TGIF2 CTBP1 ZBTB26 TEAD1 TAF9B IKZF5 C10orf88 ACADSB HMX2 HMX3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HMX2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HMX2

Top Transcription factor binding sites by QIAGEN in the HMX2 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • p53

Genomic Locations for HMX2 Gene

Genomic Locations for HMX2 Gene
chr10:123,142,421-123,150,672
(GRCh38/hg38)
Size:
8,252 bases
Orientation:
Plus strand
chr10:124,907,638-124,910,188
(GRCh37/hg19)
Size:
2,551 bases
Orientation:
Plus strand

Genomic View for HMX2 Gene

Genes around HMX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HMX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMX2 Gene

Proteins for HMX2 Gene

  • Protein details for HMX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A2RU54-HMX2_HUMAN
    Recommended name:
    Homeobox protein HMX2
    Protein Accession:
    A2RU54
    Secondary Accessions:
    • B2RNV5

    Protein attributes for HMX2 Gene

    Size:
    273 amino acids
    Molecular mass:
    29598 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HMX2 Gene

Post-translational modifications for HMX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HMX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HMX2 Gene

Domains & Families for HMX2 Gene

Gene Families for HMX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HMX2 Gene

Suggested Antigen Peptide Sequences for HMX2 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein H6 family member 2 (HMX2_HUMAN)
  • Homeobox protein (Q13028_HUMAN)

Graphical View of Domain Structure for InterPro Entry

A2RU54

UniProtKB/Swiss-Prot:

HMX2_HUMAN :
  • Belongs to the HMX homeobox family.
Family:
  • Belongs to the HMX homeobox family.
genes like me logo Genes that share domains with HMX2: view

Function for HMX2 Gene

Molecular function for HMX2 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor involved in specification of neuronal cell types and which is required for inner ear and hypothalamus development.

Gene Ontology (GO) - Molecular Function for HMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HMX2: view
genes like me logo Genes that share phenotypes with HMX2: view

Animal Models for HMX2 Gene

MGI Knock Outs for HMX2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMX2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HMX2 Gene

Localization for HMX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMX2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMX2 gene
Compartment Confidence
nucleus 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with HMX2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HMX2 Gene

Pathways & Interactions for HMX2 Gene

PathCards logo

SuperPathways for HMX2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007420 brain development IEA --
genes like me logo Genes that share ontologies with HMX2: view

No data available for Pathways by source and SIGNOR curated interactions for HMX2 Gene

Drugs & Compounds for HMX2 Gene

No Compound Related Data Available

Transcripts for HMX2 Gene

mRNA/cDNA for HMX2 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HMX2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HMX2 Gene

No ASD Table

Relevant External Links for HMX2 Gene

GeneLoc Exon Structure for
HMX2

Expression for HMX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HMX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HMX2 Gene

This gene is overexpressed in Kidney - Cortex (x15.7) and Brain - Hypothalamus (x8.5).

Protein differential expression in normal tissues from HIPED for HMX2 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HMX2 Gene



Protein tissue co-expression partners for HMX2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HMX2

SOURCE GeneReport for Unigene cluster for HMX2 Gene:

Hs.444756
genes like me logo Genes that share expression patterns with HMX2: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for HMX2 Gene

Orthologs for HMX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HMX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMX2 30
  • 99.76 (n)
cow
(Bos Taurus)
Mammalia HMX2 31 30
  • 94.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HMX2 31 30
  • 93.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Hmx2 17 31 30
  • 89.62 (n)
rat
(Rattus norvegicus)
Mammalia Hmx2 30
  • 89.62 (n)
oppossum
(Monodelphis domestica)
Mammalia HMX2 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMX2 31 30
  • 78.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMX2 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmx2 30
  • 65.2 (n)
zebrafish
(Danio rerio)
Actinopterygii hmx2 31 30
  • 64.6 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hmx 31
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mls-2 31
  • 19 (a)
OneToMany
Species where no ortholog for HMX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HMX2 Gene

ENSEMBL:
Gene Tree for HMX2 (if available)
TreeFam:
Gene Tree for HMX2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HMX2: view image

Paralogs for HMX2 Gene

Paralogs for HMX2 Gene

(28) SIMAP similar genes for HMX2 Gene using alignment to 2 proteins:

  • HMX2_HUMAN
  • Q13028_HUMAN
genes like me logo Genes that share paralogs with HMX2: view

Variants for HMX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HMX2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs202148161 Uncertain Significance: Severe Myopia 123,149,569(+) G/A SPLICE_ACCEPTOR_VARIANT

Additional dbSNP identifiers (rs#s) for HMX2 Gene

Variation tolerance for HMX2 Gene

Residual Variation Intolerance Score: 79.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.54; 44.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HMX2 Gene

Human Gene Mutation Database (HGMD)
HMX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HMX2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HMX2 Gene

Disorders for HMX2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HMX2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
oculoauricular syndrome
  • ocacs
muenke syndrome
  • mnkes
saethre-chotzen syndrome
  • scs
- elite association - COSMIC cancer census association via MalaCards
Search HMX2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HMX2

genes like me logo Genes that share disorders with HMX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HMX2 Gene

Publications for HMX2 Gene

  1. Phylogenetic conservation and physical mapping of members of the H6 homeobox gene family. (PMID: 7647458) Stadler HS … Solursh M (Mammalian genome : official journal of the International Mammalian Genome Society 1995) 2 3 54
  2. A census of human transcription factors: function, expression and evolution. (PMID: 19274049) Vaquerizas JM … Luscombe NM (Nature reviews. Genetics 2009) 3 54
  3. Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. (PMID: 19379485) Munroe RJ … Schimenti JC (BMC developmental biology 2009) 23 54
  4. Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function. (PMID: 19253379) Miller ND … Pevsner J (American journal of medical genetics. Part A 2009) 3 54
  5. A whole-genome scan for 24-hour respiration rate: a major locus at 10q26 influences respiration during sleep. (PMID: 15558495) de Geus EJ … Boomsma DI (American journal of human genetics 2005) 3 54

Products for HMX2 Gene

Sources for HMX2 Gene