Human Gene HOXA2 (ENST00000222718.7) from GENCODE V44
Description: Homo sapiens homeobox A2 (HOXA2), mRNA. (from RefSeq NM_006735) RefSeq Summary (NM_006735): 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]. Gencode Transcript: ENST00000222718.7 Gencode Gene: ENSG00000105996.7 Transcript (Including UTRs) Position: hg38 chr7:27,100,354-27,102,683 Size: 2,330 Total Exon Count: 2 Strand: - Coding Region Position: hg38 chr7:27,100,726-27,102,500 Size: 1,775 Coding Exon Count: 2
ID:HXA2_HUMAN DESCRIPTION: RecName: Full=Homeobox protein Hox-A2; AltName: Full=Homeobox protein Hox-1K; 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. SUBCELLULAR LOCATION: Nucleus. DISEASE: Defects in HOXA2 are a cause of microtia hearing impairment and cleft palate (MHICP) [MIM:612290]. Microtia is a congenital deformity of the outer ear and occurs in approximately one in 8'000-10'000 births. It is characterized by a small, abnormally shaped outer ear. It can be unilateral or bilateral. Syndromic forms of microtia occur in conjunction with other abnormalities. The most common associated malformations is the cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. Defects in HOXA2 are a cause of autosomal- recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment and partial cleft palate. SIMILARITY: Belongs to the Antp homeobox family. Proboscipedia subfamily. SIMILARITY: Contains 1 homeobox DNA-binding domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43364
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0003677 DNA binding GO:0003700 transcription factor activity, sequence-specific DNA binding GO:0043565 sequence-specific DNA binding
Biological Process: GO:0000122 negative regulation of transcription from RNA polymerase II promoter GO:0001709 cell fate determination GO:0002076 osteoblast development GO:0006351 transcription, DNA-templated GO:0006355 regulation of transcription, DNA-templated GO:0007275 multicellular organism development GO:0007379 segment specification GO:0007389 pattern specification process GO:0008045 motor neuron axon guidance GO:0009952 anterior/posterior pattern specification GO:0009953 dorsal/ventral pattern formation GO:0021568 rhombomere 2 development GO:0021569 rhombomere 3 development GO:0021658 rhombomere 3 morphogenesis GO:0035284 brain segmentation GO:0042474 middle ear morphogenesis GO:0045165 cell fate commitment GO:0045665 negative regulation of neuron differentiation GO:0045668 negative regulation of osteoblast differentiation GO:0045944 positive regulation of transcription from RNA polymerase II promoter GO:0048703 embryonic viscerocranium morphogenesis GO:0048704 embryonic skeletal system morphogenesis GO:0071300 cellular response to retinoic acid
BC130571 - Homo sapiens homeobox A2, mRNA (cDNA clone MGC:163443 IMAGE:40146602), complete cds. BC136500 - Homo sapiens homeobox A2, mRNA (cDNA clone MGC:168112 IMAGE:9020489), complete cds. JD442729 - Sequence 423753 from Patent EP1572962. JD392435 - Sequence 373459 from Patent EP1572962. JD036466 - Sequence 17490 from Patent EP1572962. AK096742 - Homo sapiens cDNA FLJ39423 fis, clone PROST1000322, highly similar to HOMEOBOX PROTEIN HOX-A2. AL079274 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 345330. KJ891376 - Synthetic construct Homo sapiens clone ccsbBroadEn_00770 HOXA2 gene, encodes complete protein. AB464572 - Synthetic construct DNA, clone: pF1KB8980, Homo sapiens HOXA2 gene for homeobox A2, without stop codon, in Flexi system. AK291164 - Homo sapiens cDNA FLJ78348 complete cds. JD310198 - Sequence 291222 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O43364 (Reactome details) participates in the following event(s):
R-HSA-9010503 HOXA2 binds ROBO2 gene promoter R-HSA-9010553 Regulation of expression of SLITs and ROBOs R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis R-HSA-376176 Signaling by ROBO receptors R-HSA-5619507 Activation of HOX genes during differentiation R-HSA-422475 Axon guidance R-HSA-1266738 Developmental Biology