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HOXA2 Gene

protein-coding   GIFtS: 55
GCID: GC07M027106

Homeobox A2

(Previous name: homeo box A2)
(Previous symbol: HOX1K)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Homeobox A21 2
HOX1K1 2 3
Homeobox Protein Hox-1K2 3
MCOHI2 5
Homeo Box A21
Homeobox Protein Hox-A22

External Ids:    HGNC: 51031   Entrez Gene: 31992   Ensembl: ENSG000001059967   OMIM: 6046855   UniProtKB: O433643   

Export aliases for HOXA2 gene to outside databases

Previous GC identifers: GC07M026782 GC07M026881 GC07M026882 GC07M026913 GC07M027020


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HOXA2 Gene:
In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters
named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally
regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a
DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The
encoded protein may be involved in the placement of hindbrain segments in the proper location along the
anterior-posterior axis during development. (provided by RefSeq, Jul 2008)

GeneCards Summary for HOXA2 Gene:
HOXA2 (homeobox A2) is a protein-coding gene. Diseases associated with HOXA2 include microtia with or without hearing impairment, and microtia, hearing impairment, and cleft palate. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSX1.

UniProtKB/Swiss-Prot: HXA2_HUMAN, O43364
Function: Sequence-specific transcription factor which is part of a developmental regulatory system that provides
cells with specific positional identities on the anterior-posterior axis

Gene Wiki entry for HOXA2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the HOXA2 gene promoter:
         Nkx2-5   HNF-4alpha2   C/EBPalpha   GATA-2   HNF-4alpha1   AREB6   SRY   HSF2   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHOXA2 promoter sequence
   Search Chromatin IP Primers for HOXA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HOXA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p15.2   Ensembl cytogenetic band:  7p15.2   HGNC cytogenetic band: 7p15.2

HOXA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HOXA2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M027106:  view genomic region     (about GC identifiers)

Start:
27,139,721 bp from pter      End:
27,142,430 bp from pter
Size:
2,710 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 27,191,126-27,193,547     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HXA2_HUMAN, O43364 (See protein sequence)
Recommended Name: Homeobox protein Hox-A2  
Size: 376 amino acids; 41002 Da
Secondary accessions: A1L4K3 B2RMW3

Explore the universe of human proteins at neXtProt for HOXA2: NX_O43364

Explore proteomics data for HOXA2 at MOPED


See HOXA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_006726.1  
ENSEMBL proteins: 
 ENSP00000222718  

HOXA2 Human Recombinant Protein Products:

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LSBio Antibodies in human, mouse, rat for HOXA2

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Cloud-Clone Corp. ELISAs for HOXA2
Cloud-Clone Corp. CLIAs for HOXA2


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
HOXL: Homeoboxes / ANTP class : HOXL subclass

5 InterPro protein domains:
 IPR001827 Homeobox_Antennapedia_CS
 IPR020479 Homeobox_metazoa
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry O43364

ProtoNet protein and cluster: O43364

2 Blocks protein domains:
IPB000047 Lambda and other repressor helix-turn-helix signature
IPB001827 Homeobox protein


UniProtKB/Swiss-Prot: HXA2_HUMAN, O43364
Similarity: Belongs to the Antp homeobox family. Proboscipedia subfamily
Similarity: Contains 1 homeobox DNA-binding domain


HOXA2 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: HXA2_HUMAN, O43364
Function: Sequence-specific transcription factor which is part of a developmental regulatory system that provides
cells with specific positional identities on the anterior-posterior axis

     Genatlas biochemistry entry for HOXA2:
homeo box A2(1K),homologous to mouse Hox-1.11,Drosophila pb

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding ----
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding IEA--
     
HOXA2 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for HOXA2:
 Decreased viability 

     14 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Hoxa2):
 behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
 embryogenesis  growth/size/body  hearing/vestibular/ear  mortality/aging  muscle 
 nervous system  normal  respiratory system  skeleton 

HOXA2 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for HOXA2: Hoxa2tm1Ipc Hoxa2tm1.2Fmr Hoxa2tm1Grid Hoxa2tm2Fmr Hoxa2tm1Mrc

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HOXA2
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HOXA2

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HOXA2
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HOXA2

Transcription Factor Targeting: 
Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                      Consensus sequence:  GYCATCMATCAT 

miRNA
Products:
    
miRTarBase miRNAs that target HOXA2:
hsa-mir-335-5p (MIRT017046)

Block miRNA regulation of human, mouse, rat HOXA2 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate HOXA2:
hsa-miR-33a*
SwitchGear 3'UTR luciferase reporter plasmidHOXA2 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for HOXA2
Predesigned siRNA for gene silencing in human, mouse, rat HOXA2

Gene Editing
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DNA2.0 Custom Protein Engineering Service for HOXA2

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OriGene clones in human, mouse for HOXA2 (see all 6)
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GenScript: all cDNA clones in your preferred vector: HOXA2 (NM_006735)
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for HOXA2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXA2

Cell Line
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GenScript Custom overexpressing Cell Line Services for HOXA2
Browse ESI BIO Cell Lines and PureStem Progenitors for HOXA2 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXA2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
HXA2_HUMAN, O43364: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IDA--
GO:0005730NOT nucleolus IDA--

HOXA2 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Pathway & Disease-focused RT2 Profiler PCR Arrays including HOXA2: 
          Stem Cell Transcription Factors in human mouse rat
          Homeobox (HOX) Genes in human mouse rat

Interactions:

    Search GeneGlobe Interaction Network for HOXA2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for HOXA2 (O433643 ENSP000002227184) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
InteractantInteraction Details
GeneCardExternal ID(s)
MEIS1O004703, ENSP000002723694I2D: score=3 STRING: ENSP00000272369
ASB12Q8WXK43I2D: score=1 
BRCA1P383983I2D: score=1 
CERS2Q96G233I2D: score=1 
CHD4Q148393I2D: score=1 
About this table

Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
GO:0001709cell fate determination IEA--
GO:0002076osteoblast development IEA--
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated ----

HOXA2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for HOXA2 (HXA2)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for HOXA2 gene: 
NM_006735.3  

Unigene Cluster for HOXA2:

Homeobox A2
Hs.592177  [show with all ESTs]
Unigene Representative Sequence: NM_006735
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000222718(uc003syh.3)
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat HOXA2 using miScript Target Protectors
1 qRT-PCR Assays for microRNA that regulate HOXA2:
hsa-miR-33a*
SwitchGear 3'UTR luciferase reporter plasmidHOXA2 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for HOXA2
Predesigned siRNA for gene silencing in human, mouse, rat HOXA2
Clone
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OriGene clones in human, mouse for HOXA2 (see all 6)
OriGene ORF clones in mouse, rat for HOXA2
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: HOXA2 (NM_006735)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for HOXA2
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HOXA2
Primer
Products:
    
OriGene qPCR primer pairs and template standards for HOXA2
OriGene qSTAR qPCR primer pairs in human, mouse for HOXA2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HOXA2
  QuantiTect SYBR Green Assays in human, mouse, rat HOXA2
  QuantiFast Probe-based Assays in human, mouse, rat HOXA2

Additional mRNA sequence: 

AK291164.1 AL079274.1 BC130571.1 BC136500.1 

2 DOTS entries:

DT.207842  DT.75161512 

Selected AceView cDNA sequences (see all 27):

NM_006735 BI010103 BF509655 AI581335 BF940394 BE465040 AI140882 AI174765 
AK096742 AW579346 W72556 AA627201 AW299721 AW385940 AI796505 BE265850 
AW579357 AI692874 AL079274 AW292406 AW385936 AW079894 BF089689 W76504 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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HOXA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CATATTTTTT
HOXA2 Expression
About this image


HOXA2 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 13) fully expand
 
 Head Mesenchyme (Muscoskeletal System)    fully expand to see all 8 entries
         Cranial Neural Crest Cells Branchial Arch 2
 
 Brain (Nervous System)    fully expand to see all 6 entries
         Thalamus
 
 Neural Crest (Gastrulation Derivatives)    fully expand to see all 5 entries
         Cranial Neural Crest Cells Branchial Arch 2
 
 Bone (Muscoskeletal System)    fully expand to see all 18 entries
         Osteochondro Progenitor Cells Branchial Arch 2
 
 Neural Tube (Nervous System)    fully expand to see all 4 entries
         Telencephalon
HOXA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

HOXA2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.592177
    Pathway & Disease-focused RT2 Profiler PCR Arrays including HOXA2: 
          Stem Cell Transcription Factors in human mouse rat
          Homeobox (HOX) Genes in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for HOXA2
OriGene qSTAR qPCR primer pairs in human, mouse for HOXA2
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QuantiTect SYBR Green Assays in human, mouse, rat HOXA2
QuantiFast Probe-based Assays in human, mouse, rat HOXA2
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HOXA2

(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)
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This gene was present in the common ancestor of animals.

Orthologs for HOXA2 gene from Selected species (see all 14)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Hoxa21 , 5 homeobox A21, 5 93.33(n)1
95.68(a)1
  6 (25.40 cM)5
153991  NM_010451.21  NP_034581.11 
 521623515 
chicken
(Gallus gallus)
Aves HOXA21 homeobox A2 85.61(n)
85.79(a)
  396055  NM_205150.2  NP_990481.1 
lizard
(Anolis carolinensis)
Reptilia HOXA26
homeobox A2
81(a)
1 ↔ 1
GL343275.1(1530375-1532456)
African clawed frog
(Xenopus laevis)
Amphibia hoxa2b-A2 transcription factor Hoxa2b 84.06(n)    AF307009.1 
zebrafish
(Danio rerio)
Actinopterygii hoxa2b2 homeo box A2b 79.28(n)   30325  AF307010.1 
fruit fly
(Drosophila melanogaster)
Insecta pb6
proboscipedia
14(a)
1 → many
3R(2533518-2567785)


ENSEMBL Gene Tree for HOXA2 (if available)
TreeFam Gene Tree for HOXA2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for HOXA2 gene
GSX12  HOXA32  MEOX12  EVX22  HOXA12  HOXB12  HOXB32  HOXD12  
GSX22  EVX12  HOXB22  MEOX22  PDX12  HOXD32  
1 SIMAP similar gene for HOXA2 using alignment to 1 protein entry:     HXA2_HUMAN:
HOXB2

HOXA2 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for HOXA2 (see all 99)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0480234
Microtia, hearing impairment, and cleft palate (MHICP)4--see VAR_0480232 Q K mis40--------
rs1443025821,2
F--27107743(+) CTGCCG/TGGGTT 2 P syn11Minor allele frequency- T:0.00NA 3562
rs1871620031,2
C--27107846(+) CGACAC/GGGGGA 2 P R mis10--------
rs1917105861,2
--27107982(+) CTTTGA/GGGGGG 1 -- ut510--------
rs1436888291,2
--27107983(+) TTTGGC/GGGGGC 1 -- ut510--------
rs1137553251,2
C--27108274(+) TATTTG/ACACTT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
rs1838056451,2
--27108396(+) GCCTGA/GGAGTG 1 -- us2k10--------
rs3774119491,2
C--27108398(+) TGGGA-/GTGTGTG 1 -- us2k10--------
rs2014510201,2
--27108416(+) TGTGT-/GAGAATG 1 -- us2k10--------
rs1481148031,2
--27108804(+) TCCTCA/CTTCAC 1 -- us2k10--------

HapMap Linkage Disequilibrium report for HOXA2 (27139721 - 27142430 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for HOXA2:    About this table    
Variant IDTypeSubtypePubMed ID
nsv887856CNV Loss21882294
dgv7233n71CNV Loss21882294
nsv887870CNV Loss21882294
dgv7231n71CNV Loss21882294
dgv7235n71CNV Loss21882294
dgv7234n71CNV Loss21882294
dgv7232n71CNV Loss21882294
dgv1094n67CNV Gain20364138
nsv7393OTHER Inversion18451855

Human Gene Mutation Database (HGMD): HOXA2
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing HOXA2
DNA2.0 Custom Variant and Variant Library Synthesis for HOXA2

(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.)
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OMIM gene information: 604685   
OMIM disorders: 612290  
UniProtKB/Swiss-Prot: HXA2_HUMAN, O43364
  • Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290]: A disease characterized by microtia,
    mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital
    deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially
    absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin
    remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a
    relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities
    including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Microtia with or without hearing impairment (MCRT) [MIM:612290]: Microtia is a congenital deformity of
    the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except
    for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of
    underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed
    lobule. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for HOXA2:    
    About MalaCards
    microtia with or without hearing impairment    microtia, hearing impairment, and cleft palate    anotia    microtia
    bamforth-lazarus syndrome    choanal atresia    clubfoot    cleft palate
    conjunctivitis    multiple myeloma    myeloma    cervicitis
    cerebritis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for HOXA2:
    Bamforth-Lazarus syndrome     Cleft palate

    HOXA2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HOXA2
    Human Genome Epidemiology (HuGE) Navigator: HOXA2 (3 documents)

    Export disorders for HOXA2 gene to outside databases

    (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)
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    PubMed articles for HOXA2 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with HOXA2)
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    1. Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. (PubMed id 19938081)1, 4 Ester A.R....Hecht J.T. (Am. J. Med. Genet. A 2009)
    2. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    3. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (PubMed id 18394579)1, 2 Alasti F....Van Camp G. (Am. J. Hum. Genet. 2008)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    6. Vertebrate homeobox gene nomenclature. (PubMed id 1358459)1, 3 Scott M.P. (Cell 1992)
    7. The homeodomain transcription factor Hoxa2 interacts with and promotes the proteasomal degradation of the E3 ubiquitin protein ligase RCHY1. (PubMed id 24244684)1 Bergiers I....RezsAPhazy R. (PLoS ONE 2013)
    8. HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. (PubMed id 23775976)2 Brown K.K....Seidman C.E. (Hum. Mutat. 2013)
    9. Mutational analysis of HOXA2 and SIX2 in a Bronx population with isolated microtia. (PubMed id 20542577)1 Monks D.C....Babcock M. (Int. J. Pediatr. Otorhinolaryngol. 2010)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3199 HGNC: 5103 AceView: HOXA2 Ensembl:ENSG00000105996 euGenes: HUgn3199
    ECgene: HOXA2 H-InvDB: HOXA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HOXA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HOXA2 gene:
    Search GeneIP for patents involving HOXA2

    GeneCards and IP:
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