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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes Transcription factors
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
7
Cytoband
p15.2
Chromosome location (bp)
27181157 - 27185232
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
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. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001656[metanephros development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001759[organ induction] GO:0002062[chondrocyte differentiation] GO:0002063[chondrocyte development] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007283[spermatogenesis] GO:0007338[single fertilization] GO:0007501[mesodermal cell fate specification] GO:0008584[male gonad development] GO:0009653[anatomical structure morphogenesis] GO:0009952[anterior/posterior pattern specification] GO:0009953[dorsal/ventral pattern formation] GO:0009954[proximal/distal pattern formation] GO:0010468[regulation of gene expression] GO:0010720[positive regulation of cell development] GO:0030326[embryonic limb morphogenesis] GO:0030850[prostate gland development] GO:0032330[regulation of chondrocyte differentiation] GO:0032332[positive regulation of chondrocyte differentiation] GO:0032991[protein-containing complex] GO:0032993[protein-DNA complex] GO:0033574[response to testosterone] GO:0035115[embryonic forelimb morphogenesis] GO:0042733[embryonic digit morphogenesis] GO:0043627[response to estrogen] GO:0045893[positive regulation of DNA-templated transcription] GO:0048468[cell development] GO:0048589[developmental growth] GO:0048856[anatomical structure development] GO:0060065[uterus development] GO:0060272[embryonic skeletal joint morphogenesis] GO:0060348[bone development] GO:0060351[cartilage development involved in endochondral bone morphogenesis] GO:1902761[positive regulation of chondrocyte development] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Congenital malformations Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II]
The Human Protein Atlas project is funded
