Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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 Cecal Benign Neoplasm and Cecum Adenocarcinoma. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HMX3.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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
GH10I123147 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.4 +6.4 6401 3 CTCF MXI1 FOXA2 SAP130 SUZ12 ZKSCAN1 ZNF335 POLR2A ZBTB20 EGR2 HMX2 BUB3 GC10P123103
GH10I123143 Enhancer 0.8 VISTA ENCODE 550.8 +1.9 1902 1.8 CTCF SUZ12 RAD21 ZNF7 ZFHX2 IKZF1 CTBP2 EGR2 EZH2 HMX2 BUB3 GC10P123103
GH10I123140 Enhancer 0.6 ENCODE 550.8 -1.9 -1921 0.2 CTCF SUZ12 RAD21 POLR2A HDAC2 MBD1 ZBTB33 EZH2 HMX2 HMX3 GC10P123103
GH10I123139 Enhancer 0.9 ENCODE 0.8 -3.1 -3097 1.7 FOXA2 ARNT ARID4B ZNF48 TCF12 POLR2B GATA2 E2F8 SP5 NCOA1 ACADSB IKZF5 HMX2 HMX3 GC10P123103
GH10I123138 Enhancer 0.5 ENCODE 0.8 -4.6 -4601 0.2 ZNF148 CC2D1A SUZ12 NRF1 CTBP2 ZBTB5 EZH2 HMX3 HMX2 GC10P123103
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around HMX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HMX2 gene promoter:

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)

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

No Post-translational modifications

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

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: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

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 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for HMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

No Data Available

Gene Ontology (GO) - Biological Process for HMX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated 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

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HMX2 Gene

H6 family homeobox 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA 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
ECgene alternative splicing isoforms for
HMX2

Expression for HMX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for HMX2 Gene



Protein tissue co-expression partners for HMX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of HMX2 Gene:

HMX2

SOURCE GeneReport for Unigene cluster for HMX2 Gene:

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

Primer Products

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 33
  • 99.76 (n)
cow
(Bos Taurus)
Mammalia HMX2 33 34
  • 94.26 (n)
dog
(Canis familiaris)
Mammalia HMX2 33 34
  • 93.65 (n)
mouse
(Mus musculus)
Mammalia Hmx2 33 16 34
  • 89.62 (n)
rat
(Rattus norvegicus)
Mammalia Hmx2 33
  • 89.62 (n)
oppossum
(Monodelphis domestica)
Mammalia HMX2 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMX2 33 34
  • 78.23 (n)
lizard
(Anolis carolinensis)
Reptilia HMX2 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmx2 33
  • 65.2 (n)
zebrafish
(Danio rerio)
Actinopterygii hmx2 33 34
  • 64.6 (n)
fruit fly
(Drosophila melanogaster)
Insecta Hmx 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mls-2 34
  • 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)

Paralogs for HMX2 Gene

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

Variants for HMX2 Gene

Sequence variations from dbSNP and Humsavar for HMX2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000331489 -- 123,141,853(+) T/C upstream_transcript_variant
rs1000891695 -- 123,142,190(+) T/C upstream_transcript_variant
rs1000911969 -- 123,145,550(+) C/T genic_upstream_transcript_variant, intron_variant
rs1001022112 -- 123,150,384(+) G/A 3_prime_UTR_variant
rs1001266205 -- 123,145,790(+) C/T genic_upstream_transcript_variant, intron_variant

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

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

(5) MalaCards diseases for HMX2 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cecal benign neoplasm
  • cecum neoplasm
cecum adenocarcinoma
  • adenocarcinoma of cecum
oculoauricular syndrome
  • ocacs
split foot
split hand-split foot malformation
  • ectrodactyly
- 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 58
  2. Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial abnormalities and reduced body mass. (PMID: 19379485) Munroe RJ … Schimenti JC (BMC developmental biology 2009) 22 58
  3. 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 58
  4. 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 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58

Products for HMX2 Gene

Sources for HMX2 Gene

Content
Loading form....