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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).
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
2
Cytoband
q14.2
Chromosome location (bp)
120735623 - 120992653
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions as a transcription regulator in the hedgehog (Hh) pathway 1,2. Functions as a transcriptional activator 3,4,5. May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development 6,7....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family. Members of this subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links. Gli family zinc finger proteins are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell. The protein encoded by this gene localizes to the cytoplasm and activates patched Drosophila homolog (PTCH) gene expression. It is also thought to play a role during embryogenesis. The encoded protein is associated with several phenotypes- Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, preaxial polydactyly type IV, postaxial polydactyly types A1 and B. [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.
A0A7I2PJA1 [Direct mapping] Zinc finger protein GLI2
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000976[transcription cis-regulatory region binding] 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001501[skeletal system development] GO:0001649[osteoblast differentiation] GO:0001701[in utero embryonic development] GO:0001822[kidney development] GO:0002009[morphogenesis of an epithelium] GO:0002062[chondrocyte differentiation] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005929[cilium] GO:0005930[axoneme] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0007389[pattern specification process] GO:0007411[axon guidance] GO:0007418[ventral midline development] GO:0007442[hindgut morphogenesis] GO:0007507[heart development] GO:0008283[cell population proliferation] GO:0008284[positive regulation of cell population proliferation] GO:0009952[anterior/posterior pattern specification] GO:0009953[dorsal/ventral pattern formation] GO:0009954[proximal/distal pattern formation] GO:0010467[gene expression] GO:0016020[membrane] GO:0016607[nuclear speck] GO:0021508[floor plate formation] GO:0021513[spinal cord dorsal/ventral patterning] GO:0021517[ventral spinal cord development] GO:0021522[spinal cord motor neuron differentiation] GO:0021696[cerebellar cortex morphogenesis] GO:0021775[smoothened signaling pathway involved in ventral spinal cord interneuron specification] GO:0021776[smoothened signaling pathway involved in spinal cord motor neuron cell fate specification] GO:0021904[dorsal/ventral neural tube patterning] GO:0021915[neural tube development] GO:0021938[smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation] GO:0021965[spinal cord ventral commissure morphogenesis] GO:0021983[pituitary gland development] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0030324[lung development] GO:0030879[mammary gland development] GO:0030902[hindbrain development] GO:0031514[motile cilium] GO:0032331[negative regulation of chondrocyte differentiation] GO:0035295[tube development] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042733[embryonic digit morphogenesis] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045666[positive regulation of neuron differentiation] GO:0045879[negative regulation of smoothened signaling pathway] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048566[embryonic digestive tract development] GO:0048589[developmental growth] GO:0048646[anatomical structure formation involved in morphogenesis] GO:0048666[neuron development] GO:0048754[branching morphogenesis of an epithelial tube] GO:0048856[anatomical structure development] GO:0050673[epithelial cell proliferation] GO:0050679[positive regulation of epithelial cell proliferation] GO:0060032[notochord regression] GO:0060322[head development] GO:0060513[prostatic bud formation] GO:0060603[mammary gland duct morphogenesis] GO:0060831[smoothened signaling pathway involved in dorsal/ventral neural tube patterning] GO:0071407[cellular response to organic cyclic compound] GO:0072089[stem cell proliferation] GO:0090103[cochlea morphogenesis] GO:0097542[ciliary tip] GO:1901620[regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning] GO:1990841[promoter-specific chromatin binding] GO:2000648[positive regulation of stem cell proliferation]
Q1PSW9 [Direct mapping] GLI2 transcription factor; Zinc finger protein GLI2
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
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GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0006357[regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding]
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] 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:0001501[skeletal system development] GO:0001822[kidney development] GO:0002076[osteoblast development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005929[cilium] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007224[smoothened signaling pathway] GO:0007389[pattern specification process] GO:0007411[axon guidance] GO:0007418[ventral midline development] GO:0007442[hindgut morphogenesis] GO:0007507[heart development] GO:0008270[zinc ion binding] GO:0009954[proximal/distal pattern formation] GO:0021508[floor plate formation] GO:0021513[spinal cord dorsal/ventral patterning] GO:0021517[ventral spinal cord development] GO:0021696[cerebellar cortex morphogenesis] GO:0021775[smoothened signaling pathway involved in ventral spinal cord interneuron specification] GO:0021965[spinal cord ventral commissure morphogenesis] GO:0021983[pituitary gland development] GO:0030324[lung development] GO:0030879[mammary gland development] GO:0030902[hindbrain development] GO:0031069[hair follicle morphogenesis] GO:0033089[positive regulation of T cell differentiation in thymus] GO:0035295[tube development] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042995[cell projection] GO:0043565[sequence-specific DNA binding] GO:0045740[positive regulation of DNA replication] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048566[embryonic digestive tract development] GO:0048589[developmental growth] GO:0048666[neuron development] GO:0048754[branching morphogenesis of an epithelial tube] GO:0097542[ciliary tip] GO:0097546[ciliary base] GO:1990787[negative regulation of hh target transcription factor activity] GO:1990788[GLI-SUFU complex] GO:1990837[sequence-specific double-stranded DNA binding] GO:1990841[promoter-specific chromatin binding]
A0A6Q8PH00 [Direct mapping] Zinc finger protein GLI2
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SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0003677[DNA binding] GO:0005634[nucleus] GO:0006357[regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding]
The Human Protein Atlas project is funded
