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. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXA2 Gene
Genomics for HOXA2 Gene
Regulatory Elements for HOXA2 Gene
Enhancers for HOXA2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HOXA2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HOXA2 gene promoter:
Regulatory Element Products
Genomic Location for HOXA2 Gene
- Chromosome:
- 7
- Start:
- 27,100,354 bp from pter
- End:
- 27,102,811 bp from pter
- Size:
- 2,458 bases
- Orientation:
- Minus strand
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
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
- antibodies-online Antibodies for HOXA2: See all 28
- Search GeneTex for Antibodies for HOXA2
Protein Products
-
OriGene Purified Proteins for HOXA2
- Search Origene for MassSpec and Protein Over-expression Lysates for HOXA2
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- Novus Biologicals lysates for HOXA2
- antibodies-online Proteins for HOXA2: See all 8
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HOXA2
Assay Products
No data available for DME Specific Peptides for HOXA2 Gene
Domains & Families for HOXA2 Gene
Gene Families for HOXA2 Gene
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000978 | RNA polymerase II core promoter proximal region sequence-specific DNA binding | IEA | -- |
| GO:0001078 | transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | transcription factor activity, sequence-specific DNA binding | IEA | -- |
| GO:0043565 | sequence-specific DNA binding | IEA | -- |
Phenotypes for HOXA2 Gene
- MGI mutant phenotypes for HOXA2:
-
inferred from 10 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- muscle phenotype
- nervous system phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for HOXA2:
Animal Models for HOXA2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HOXA2 gene
-
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CRISPR Products
-
OriGene CRISPR knockouts for HOXA2
-
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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
- Search ViGene Biosciences for HOXA2
Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for HOXA2 gene
Clone Products
-
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Cell Line Products
-
Horizon Cell Lines for HOXA2
-
ViGene Biosciences adenoviral particle packaged cDNA for HOXA2 gene
-
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-
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Flow Cytometry Products
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 |
| 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:0000122 | negative regulation of transcription from RNA polymerase II promoter | IEA | -- |
| GO:0001709 | cell fate determination | IEA | -- |
| GO:0002076 | osteoblast development | IEA | -- |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | 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
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXA2
- GenScript: Design CRISPR guide RNA sequences for HOXA2
miRNA Products
- Search ViGene Biosciences for HOXA2
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for HOXA2
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-
ViGene Biosciences ready-to-package AAV shRNAs for HOXA2 gene
Clone Products
-
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Flow Cytometry Products
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
Organs:
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
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 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HOXA2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HOXA2 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Hoxa2 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Hoxa2 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HOXA2 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | HOXA2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HOXA2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HOXA2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hoxa2 34 |
|
||
| Str.13271 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | hoxa2b-A 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hoxa2b 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | pb 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
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 | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs119489104 | Pathogenic, Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290] | 27,101,301(-) | AGAGA(A/C)AAGTG | reference, missense | |
| rs398122360 | Pathogenic | 27,101,154(-) | TTGAG(C/T)AAGCC | reference, stop-gained | |
| rs117630421 | Likely benign | 27,100,618(+) | GGGAA(A/G)GGGTA | intron-variant, utr-variant-3-prime | |
| rs139504171 | Uncertain significance | 27,101,463(+) | CAGGG(A/T)TTCTG | reference, missense | |
| rs141414600 | Uncertain significance | 27,100,410(+) | TCCCA(A/G)TGTAA | intron-variant, utr-variant-3-prime |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1094n67 | CNV | gain | 20364138 |
| dgv11244n54 | CNV | loss | 21841781 |
| esv3612654 | CNV | loss | 21293372 |
| nsv606464 | CNV | loss | 21841781 |
| nsv7393 | OTHER | inversion | 18451855 |
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)
Relevant External Links for HOXA2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXA2 Gene
Disorders for HOXA2 Gene
(13) MalaCards diseases for HOXA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| microtia, hearing impairment, and cleft palate |
|
|
| microtia |
|
|
| bamforth-lazarus syndrome |
|
|
| facial nerve disease |
|
|
| facial paralysis |
|
|
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.
Relevant External Links for HOXA2
No data available for Genatlas for HOXA2 Gene
Publications for HOXA2 Gene
- HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. (PMID: 23775976) Brown K.K. … Seidman C.E. (Hum. Mutat. 2013) 3 4 64
- High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 46 64
- Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. (PMID: 19938081) Ester A.R. … Hecht J.T. (Am. J. Med. Genet. A 2009) 3 46 64
- A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (PMID: 18394579) Alasti F. … Van Camp G. (Am. J. Hum. Genet. 2008) 3 4 64
- Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
Products for HOXA2 Gene
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- antibodies-online Antibodies for HOXA2: See all 28
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- Yeast expression
Sources for HOXA2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
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- (18) KEGG
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- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
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- (85) SIMAP
- (86) GenomeRNAi
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- (98) BioGPS
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- (100) COMPARTMENTS
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- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer