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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).
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
3
Cytoband
q25.32
Chromosome location (bp)
158095905 - 158106420
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern formation in both invertebrate and vertebrate species. Several human genetic disorders are caused by aberrations in human homeobox genes. This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]...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.
O60902 [Direct mapping] Short stature homeobox protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0002027[regulation of heart rate] GO:0003163[sinoatrial node development] GO:0003172[sinoatrial valve development] GO:0003213[cardiac right atrium morphogenesis] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007399[nervous system development] GO:0060920[cardiac pacemaker cell differentiation] GO:0060931[sinoatrial node cell development] GO:1990837[sequence-specific double-stranded DNA binding]
O60902 [Direct mapping] Short stature homeobox protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0002027[regulation of heart rate] GO:0003163[sinoatrial node development] GO:0003172[sinoatrial valve development] GO:0003213[cardiac right atrium morphogenesis] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007399[nervous system development] GO:0060920[cardiac pacemaker cell differentiation] GO:0060931[sinoatrial node cell development] GO:1990837[sequence-specific double-stranded DNA binding]
O60902 [Direct mapping] Short stature homeobox protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001649[osteoblast differentiation] GO:0002027[regulation of heart rate] GO:0002053[positive regulation of mesenchymal cell proliferation] GO:0002062[chondrocyte differentiation] GO:0002063[chondrocyte development] GO:0003163[sinoatrial node development] GO:0003170[heart valve development] GO:0003172[sinoatrial valve development] GO:0003209[cardiac atrium morphogenesis] GO:0003213[cardiac right atrium morphogenesis] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0007399[nervous system development] GO:0010463[mesenchymal cell proliferation] GO:0030326[embryonic limb morphogenesis] GO:0032330[regulation of chondrocyte differentiation] GO:0035115[embryonic forelimb morphogenesis] GO:0045880[positive regulation of smoothened signaling pathway] GO:0048557[embryonic digestive tract morphogenesis] GO:0048598[embryonic morphogenesis] GO:0048743[positive regulation of skeletal muscle fiber development] GO:0050772[positive regulation of axonogenesis] GO:0060272[embryonic skeletal joint morphogenesis] GO:0060351[cartilage development involved in endochondral bone morphogenesis] GO:0060415[muscle tissue morphogenesis] GO:0060920[cardiac pacemaker cell differentiation] GO:0060931[sinoatrial node cell development] GO:0072089[stem cell proliferation] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000172[regulation of branching morphogenesis of a nerve] GO:2000648[positive regulation of stem cell proliferation]
The Human Protein Atlas project is funded
