HMX2 Gene
protein-coding GIFtS: 46
GCID: GC10P124897
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H6 family homeobox 2(Previous name: homeo box (H6 family) 2 )
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Aliases
for HMX2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| H6 Family Homeobox 21 2 | | H6L2 | | Homeo Box (H6 Family) 21 2 | | Nkx5-22 | | Homeobox Protein H6 Family Member 22 3 | | Homeobox Protein HMX22 | | NKX5-21 | | |
Export aliases for HMX2 gene to outside databasesPrevious GC identifers: GC10U990031 GC08M023560 GC10P124448 GC04M9P0040 GC10P118525 |
Summaries
for HMX2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for HMX2:
The protein encoded by this gene is a member of the NKL homeobox family of transcription factors. Members in thisfamily are of ancient origin and play an important role in organ development during embryogenesis. A related mouseprotein plays a role in patterning of inner ear structures. In humans, variations in a region containing this genehave been associated with inner ear malformations, vestibular dysfunction, and hearing loss. (provided by RefSeq, Aug2012)
UniProtKB/Swiss-Prot: HMX2_HUMAN, A2RU54Function: Transcription factor involved in specification of neuronal cell types and which is required for inner ear andhypothalamus development (By similarity)
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Genomic Views
for HMX2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HMX2 gene promoter:
p53 NF-kappaB NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for HMX2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMX2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q26.13 Ensembl cytogenetic band: 10q26.13 HGNC cytogenetic band: 10q26.13HMX2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P124897: view genomic region
(about GC identifiers)
Start:
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124,907,638 bp from pter |
End:
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124,910,188 bp from pter |
Size:
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2,551 bases |
Orientation:
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plus strand |
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Proteins
for HMX2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: HMX2_HUMAN, A2RU54 (See
protein sequence)Recommended Name: Homeobox protein HMX2 Size: 273 amino acids; 29598 Da
Subcellular location: Nucleus (By similarity)
Secondary accessions: B2RNV5Explore the universe of human proteins at neXtProt for HMX2: NX_A2RU54
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_A2RU54
HMX2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_005510.1
ENSEMBL proteins: ENSP00000341108
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
HMX2 for ontologies About GeneDecksing
HMX2 Antibody Products:
Assay Products for HMX2: |
Protein
Domains /
Families
for HMX2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HMX2 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry A2RU54ProtoNet protein and cluster: A2RU54 UniProtKB/Swiss-Prot: HMX2_HUMAN, A2RU54Similarity: Belongs to the HMX homeobox familySimilarity: Contains 1 homeobox DNA-binding domain |
Function
for HMX2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: HMX2_HUMAN, A2RU54Function: Transcription factor involved in specification of neuronal cell types and which is required for inner ear andhypothalamus development (By similarity)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HMX2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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Synthesis Service for HMX2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMX2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMX2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003700 | sequence-specific DNA binding transcription factor activity |
IEA | -- | | GO:0043565 | sequence-specific DNA binding |
IEA | -- |
HMX2 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Hmx3/Hmx2Hmx3/tm3Tlu for HMX2
8 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Hmx2):
HMX2 for phenotypes About GeneDecksing
|
Pathways & Interactions
for HMX2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMX2
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
2 Interacting proteins for HMX2 (A2RU543 ENSP000003411084) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
HMX2 for ontologies About GeneDecksing
|
Drugs & Compounds
for HMX2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for HMX2
Search CenterWatch for drugs/clinical trials and news about HMX2
|
Transcripts
for HMX2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HMX2 gene: NM_005519.1 Unigene Cluster for HMX2: H6 family homeobox 2 Hs.444756 [show with all ESTs]Unigene Representative Sequence: NM_0055191 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000339992(uc001lhc.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HMX2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HMX2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: HMX2 (NM_005519) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HMX2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMX2 |
Additional cDNA sequence: BC132758.1 BC137139.1 1 DOTS entry: DT.97788751
GeneLoc Exon Structure
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Expression
for HMX2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HMX2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATACACGCT
About this image
See HMX2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HMX2
SOURCE GeneReport for Unigene cluster: Hs.444756
SABiosciences Custom PCR Arrays for HMX2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HMX2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat HMX2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMX2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMX2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMX2 |
Orthologs
for HMX2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for HMX2 gene from 5/15 species (see all 15) About this table
ENSEMBL Gene Tree for HMX2 (if available)
TreeFam Gene Tree for HMX2 (if available) |
Paralogs
for HMX2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for HMX2 gene
- NKX2-32 TLX12 NKX3-22 NKX2-82 NKX2-62 NKX2-12 NKX2-52 NKX2-22
- LBX12 NKX2-42 HMX32 TLX32 HMX12 LBX22 TLX22 NKX3-12
18/29 SIMAP similar genes for HMX2 using alignment to 2 protein entries: HMX2_HUMAN (see all proteins)
(see all similar genes):HOXB1 MSX1 GBX1 GBX2 MNX1 homeobox gene
BARHL1 DLX1 DLX3 DLX6 HOXD1 NKX1-1
NKX1-2 NKX2-6 NKX6-1 CDX1 CDX2 DBX2
HMX2 for paralogs About GeneDecksing
|
Genomic Variants
for HMX2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HMX2 (124907638 - 124910188 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HMX2: --
Human Gene Mutation Database (HGMD): HMX2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HMX2 |
|
Disorders
/ Diseases
for HMX2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HMX2 for disorders About GeneDecksing
OMIM gene information: 600647
OMIM disorders: --
6  diseases for HMX2: About MalaCardsdistal hereditary motor neuropathy hearing loss peripartum cardiomyopathy neuropathy
cardiomyopathy neuronitis
Export disorders for HMX2 gene to outside databases
|
Publications
for HMX2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HMX2 gene integrated from 9 sources:
(articles sorted by number of sources associating them with HMX2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Phylogenetic conservation and physical mapping of members of the H6 homeobox gene family. (PubMed id 7647458)1, 3 Stadler H.S.... Solursh M. (1995)
- Conservation of gene linkage in dispersed vertebrate N K homeobox clusters. (PubMed id 20072845)1 Wotton K.R....Lewis K.E. (2010)
- Molecular (SNP) analyses of overlapping hemizygous de letions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as ca ndidate genes in hearing and vestibular function. (PubMed id 19253379)1 Miller N.D....Pevsner J. (2009)
- A whole-genome scan for 24-hour respiration rate: a major locus at 10q26 influences respiration during sleep. (PubMed id 15558495)1 de Geus E.J....Boomsma D.I. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
- Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25. (PubMed id 9004130)1 Raas-Rothschild A....Munnich A. (1996)
- A novel NK-related mouse homeobox gene: expression in central and peripheral nervous structures during embryonic development. (PubMed id 7510254)1 Bober E....Arnold H.H. (1994)
- Mouse H6 Homeobox 1 (Hmx1) mutations cause cranial ab normalities and reduced body mass. (PubMed id 19379485)9 Munroe R.J....Schimenti J.C. (2009)
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External Searches for HMX2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing HMX2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HMX2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HMX2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for HMX2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for HMX2 gene:
Search GeneIP for patents involving HMX2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for HMX2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for HMX2 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HMX2 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HMX2 | | | OriGene Protein Over-expression Lysate for HMX2 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HMX2 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HMX2 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HMX2 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HMX2 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HMX2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMX2 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HMX2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HMX2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HMX2 |
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 | | | HMX2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMX2 |
|  |  |  | | | | ThermoFisher Antibodies for HMX2 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMX2 |
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