Aliases for HOXA2 Gene
Aliases for HOXA2 Gene
External Ids for HOXA2 Gene
- HGNC: 5103
- Entrez Gene: 3199
- Ensembl: ENSG00000105996
- OMIM: 604685
- UniProtKB: O43364
Previous HGNC Symbols for HOXA2 Gene
- HOX1K
Previous GeneCards Identifiers for HOXA2 Gene
- GC07M026782
- GC07M026881
- GC07M026882
- GC07M026913
- GC07M027106
- GC07M027020
Summaries 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, Hearing Impairment, And Cleft Palate and Microtia. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Developmental Biology. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is HOXB2.
UniProtKB/Swiss-Prot for HOXA2 Gene
-
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Additional gene information for HOXA2 Gene
- Monarch Initiative
- Search for HOXA2 at DataMed
- Search for HOXA2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXA2 Gene
Genomics for HOXA2 Gene
GeneHancer (GH) Regulatory Elements for HOXA2 Gene
Promoters and enhancers for HOXA2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around HOXA2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the HOXA2 gene promoter:
Regulatory Element Products
Genomic Locations for HOXA2 Gene
Genomic Locations for HOXA2 Gene
- chr7:27,100,354-27,102,811
- (GRCh38/hg38)
- Size:
- 2,458 bases
- Orientation:
- Minus strand
- chr7:27,139,721-27,142,430
- (GRCh37/hg19)
Genomic View for HOXA2 Gene
Genes around HOXA2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p15.2 by Ensembl
- 7p15.2 by Entrez Gene
- 7p15.2 by HGNC
HOXA2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HOXA2 Gene
Proteins for HOXA2 Gene
-
Protein details for HOXA2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O43364-HXA2_HUMAN
- Recommended name:
- Homeobox protein Hox-A2
- Protein Accession:
- O43364
- A1L4K3
- B2RMW3
Protein attributes for HOXA2 Gene
- Size:
- 376 amino acids
- Molecular mass:
- 41002 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for HOXA2 Gene
No Post-translational modifications
Other Protein References for HOXA2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HOXA2
-
Abcam antibodies for HOXA2
- Invitrogen Antibodies for HOXA2
- Search GeneTex for Antibodies for HOXA2
Protein Products
-
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Assay Products
No data available for DME Specific Peptides for HOXA2 Gene
Domains & Families for HOXA2 Gene
Gene Families for HOXA2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for HOXA2 Gene
Suggested Antigen Peptide Sequences for HOXA2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O43364- Family:
-
- Belongs to the Antp homeobox family. Proboscipedia subfamily.
Function for HOXA2 Gene
Molecular function for HOXA2 Gene
- GENATLAS Biochemistry:
- homeo box A2(1K),homologous to mouse Hox-1.11,Drosophila pb
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for HOXA2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003700 | DNA binding transcription factor activity | IEA | -- |
| GO:0043565 | sequence-specific DNA binding | IEA | -- |
Phenotypes for HOXA2 Gene
- MGI mutant phenotypes for HOXA2:
-
inferred from 10 alleles
- nervous system phenotype
- normal phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- hearing/vestibular/ear phenotype
- embryo phenotype
- skeleton phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for HOXA2:
Animal Models for HOXA2 Gene
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-
-
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-
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-
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miRNA for HOXA2 Gene
- miRTarBase miRNAs that target HOXA2
Targeted motifs for HOXA2 Gene
HOMER Transcription Factor Regulatory Elements motif HOXA2
- Consensus sequence: GYCATCMATCAT Submotif: canonical Cell Type: mES
miRNA Products
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Clone Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for HOXA2
-
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Cell Line Products
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-
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-
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-
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No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for HOXA2 Gene
Localization for HOXA2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HOXA2 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
- Nucleus (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
Pathways & Interactions for HOXA2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 | ||
| 2 | Developmental Biology | ||
Pathways by source for HOXA2 Gene
Interacting Proteins for HOXA2 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 | -- |
No data available for SIGNOR curated interactions for HOXA2 Gene
Transcripts for HOXA2 Gene
mRNA/cDNA for HOXA2 Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (27) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for HOXA2
- genomics-online: gRNA clones - Search results for 94 available HOXA2 gene related products
- Overview of 94 available HOXA2 gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXA2
- GenScript: Design CRISPR guide RNA sequences for HOXA2
miRNA Products
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Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HOXA2
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- genomics-online: shRNA clones - Search results for 94 available HOXA2 gene related products
- Overview of 94 available HOXA2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXA2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for HOXA2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HOXA2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for HOXA2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for HOXA2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Head Mesenchyme (Muscoskeletal System)
- Cardiac Neural Crest Cells Branchial Arch 3,4,6
- Cranial Neural Crest Cells Branchial Arch 2
- Osteochondro Progenitor Cells Branchial Arch 2
-
Neural Crest (Gastrulation Derivatives)
- Cardiac Neural Crest Cells Branchial Arch 3,4,6
- Cranial Neural Crest Cells Branchial Arch 2
-
Bone (Muscoskeletal System)
- Osteochondro Progenitor Cells Branchial Arch 2
-
Cartilage (Muscoskeletal System)
- Osteochondro Progenitor Cells Branchial Arch 2
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Lung (Respiratory System)
- Kidney (Urinary System)
- Thymus (Hematopoietic System)
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for HOXA2 Gene
This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.6).
NURSA nuclear receptor signaling pathways regulating expression of HOXA2 Gene:
HOXA2SOURCE GeneReport for Unigene cluster for HOXA2 Gene:
Hs.592177Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXA2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- head
- inner ear
- middle ear
- mouth
- outer ear
- skull
General:
- peripheral nerve
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs and template standards for HOXA2
-
OriGene qPCR primer pairs for HOXA2
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No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for HOXA2 Gene
Orthologs for HOXA2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HOXA2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | HOXA2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | HOXA2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hoxa2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Hoxa2 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HOXA2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HOXA2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HOXA2 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HOXA2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hoxa2 33 |
|
||
| Str.13271 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | hoxa2b-A 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hoxa2b 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | pb 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for HOXA2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
- worm (Caenorhabditis elegans)
Paralogs for HOXA2 Gene
Variants for HOXA2 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs117630421 | likely-benign, Microtia, hearing impairment, and cleft palate, Bosley-Salih-Alorainy syndrome, Athabaskan brainstem dysgenesis | 27,100,618(-) | G/A | 3_prime_UTR_variant | |
| rs119489104 | pathogenic, Microtia, hearing impairment, and cleft palate, Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290] | 27,101,301(-) | G/T | coding_sequence_variant, missense_variant | |
| rs139504171 | uncertain-significance, Microtia, hearing impairment, and cleft palate | 27,101,463(-) | A/T | coding_sequence_variant, missense_variant | |
| rs141414600 | uncertain-significance, Microtia, hearing impairment, and cleft palate | 27,100,410(-) | A/G | 3_prime_UTR_variant | |
| rs141931321 | uncertain-significance, Microtia, hearing impairment, and cleft palate | 27,101,050(-) | G/T | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv7393 | OTHER | inversion | 18451855 |
| nsv606464 | CNV | loss | 21841781 |
| esv3612654 | CNV | loss | 21293372 |
| dgv11244n54 | CNV | loss | 21841781 |
| dgv1094n67 | CNV | gain | 20364138 |
Residual Variation Intolerance Score:
38.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.08;
22.09% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HOXA2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXA2 Gene
Disorders for HOXA2 Gene
(14) MalaCards diseases for HOXA2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microtia, hearing impairment, and cleft palate |
|
|
| microtia |
|
|
| hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate |
|
|
| hemifacial microsomia |
|
|
| facial nerve disease |
|
|
Search HOXA2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HXA2_HUMAN- 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. {ECO:0000269 PubMed:23775976}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- 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. {ECO:0000269 PubMed:18394579}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for HOXA2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for HOXA2 Gene
Publications for HOXA2 Gene
- HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. (PMID: 23775976) Brown KK … Seidman CE (Human mutation 2013) 3 4 58
- High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 44 58
- Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. (PMID: 19938081) Ester AR … Hecht JT (American journal of medical genetics. Part A 2009) 3 44 58
- A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (PMID: 18394579) Alasti F … Van Camp G (American journal of human genetics 2008) 3 4 58
- Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
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Sources for HOXA2 Gene
- (1) GeneCards
- (2) HGNC
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