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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
2
Cytoband
q31.1
Chromosome location (bp)
172084740 - 172089677
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays a role as a transcriptional activator or repressor 1. Inhibits several cytokine signaling pathways, such as TGFB1, activin-A/INHBA and BMP4 by interfering with the transcriptional stimulatory activity of transcription factors, such as MSX2, FAST2, SMAD2 and SMAD3 during hematopoietic cell differentiation 2. Plays a role in terminal differentiation of interneurons, such as amacrine and bipolar cells in the developing retina (By similarity). Likely to play a regulatory role in the development of the ventral forebrain (By similarity). May play a role in craniofacial patterning and morphogenesis and may be involved in the early development of diencephalic subdivisions (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. The encoded protein is localized to the nucleus where it may function as a transcriptional regulator of signals from multiple TGF-{beta} superfamily members. The encoded protein may play a role in the control of craniofacial patterning and the differentiation and survival of inhibitory neurons in the forebrain. This gene is located in a tail-to-tail configuration with another member of the family on the long arm of chromosome 2. Alternatively spliced transcript variants encoding different isoforms have been described. [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 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:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0030154[cell differentiation] GO:0030514[negative regulation of BMP signaling pathway] GO:0043231[intracellular membrane-bounded organelle] GO:0045597[positive regulation of cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046533[negative regulation of photoreceptor cell differentiation] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0071773[cellular response to BMP stimulus] GO:1902871[positive regulation of amacrine cell differentiation] GO:1903845[negative regulation of cellular response to transforming growth factor beta stimulus] GO:1990837[sequence-specific double-stranded DNA binding]
X5D2F9 [Target identity:100%; Query identity:100%] Distal-less homeobox 1 isoform A
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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
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007219[Notch signaling pathway] GO:0009954[proximal/distal pattern formation] GO:0014016[neuroblast differentiation] GO:0021544[subpallium development] GO:0021766[hippocampus development] GO:0021879[forebrain neuron differentiation] GO:0021892[cerebral cortex GABAergic interneuron differentiation] GO:0021893[cerebral cortex GABAergic interneuron fate commitment] GO:0030154[cell differentiation] GO:0030514[negative regulation of BMP signaling pathway] GO:0042475[odontogenesis of dentin-containing tooth] GO:0043231[intracellular membrane-bounded organelle] GO:0043524[negative regulation of neuron apoptotic process] GO:0045597[positive regulation of cell differentiation] GO:0045746[negative regulation of Notch signaling pathway] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046533[negative regulation of photoreceptor cell differentiation] GO:0048706[embryonic skeletal system development] GO:0048709[oligodendrocyte differentiation] GO:0048715[negative regulation of oligodendrocyte differentiation] GO:0051402[neuron apoptotic process] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0071773[cellular response to BMP stimulus] GO:0097154[GABAergic neuron differentiation] GO:1902871[positive regulation of amacrine cell differentiation] GO:1903845[negative regulation of cellular response to transforming growth factor beta stimulus] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
