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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
18
Cytoband
q11.2
Chromosome location (bp)
22169589 - 22202528
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional activator 1,2,3,4. Regulates SEMA3C and PLXNA2 5. Involved in gene regulation specifically in the gastric epithelium 6. May regulate genes that protect epithelial cells from bacterial infection 7. Involved in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (By similarity). Binds to BMP response element (BMPRE) DNA sequences within cardiac activating regions (By similarity). In human skin, controls several physiological processes contributing to homeostasis of the upper pilosebaceous unit. Triggers ductal and sebaceous differentiation as well as limits cell proliferation and lipid production to prevent hyperseborrhoea. Mediates the effects of retinoic acid on sebocyte proliferation, differentiation and lipid production. Also contributes to immune regulation of sebocytes and antimicrobial responses by modulating the expression of anti-inflammatory genes such as IL10 and pro-inflammatory genes such as IL6, TLR2, TLR4, and IFNG. Activates TGFB1 signaling which controls the interfollicular epidermis fate 8....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding
Biological process (UniProt)i
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 is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]...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 Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Other congenital malformations 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:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0000987[cis-regulatory region sequence-specific DNA binding] GO:0001223[transcription coactivator binding] GO:0001701[in utero embryonic development] GO:0001889[liver development] GO:0001949[sebaceous gland cell differentiation] GO:0002759[regulation of antimicrobial humoral response] GO:0003148[outflow tract septum morphogenesis] GO:0003162[atrioventricular node development] GO:0003163[sinoatrial node development] GO:0003309[type B pancreatic cell differentiation] GO:0003310[pancreatic A cell differentiation] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003690[double-stranded DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein 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:0006644[phospholipid metabolic process] GO:0007493[endodermal cell fate determination] GO:0008270[zinc ion binding] GO:0008584[male gonad development] GO:0009410[response to xenobiotic stimulus] GO:0009636[response to toxic substance] GO:0009653[anatomical structure morphogenesis] GO:0010467[gene expression] GO:0010468[regulation of gene expression] GO:0010666[positive regulation of cardiac muscle cell apoptotic process] GO:0014898[cardiac muscle hypertrophy in response to stress] GO:0019901[protein kinase binding] GO:0030154[cell differentiation] GO:0030513[positive regulation of BMP signaling pathway] GO:0030855[epithelial cell differentiation] GO:0031016[pancreas development] GO:0031965[nuclear membrane] GO:0032526[response to retinoic acid] GO:0032911[negative regulation of transforming growth factor beta1 production] GO:0032912[negative regulation of transforming growth factor beta2 production] GO:0035239[tube morphogenesis] GO:0035987[endodermal cell differentiation] GO:0036302[atrioventricular canal development] GO:0042475[odontogenesis of dentin-containing tooth] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0043627[response to estrogen] GO:0045165[cell fate commitment] GO:0045766[positive regulation of angiogenesis] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048645[animal organ formation] GO:0048731[system development] GO:0048738[cardiac muscle tissue development] GO:0048863[stem cell differentiation] GO:0051145[smooth muscle cell differentiation] GO:0051525[NFAT protein binding] GO:0051591[response to cAMP] GO:0055007[cardiac muscle cell differentiation] GO:0060038[cardiac muscle cell proliferation] GO:0060045[positive regulation of cardiac muscle cell proliferation] GO:0060047[heart contraction] GO:0060430[lung saccule development] GO:0060486[club cell differentiation] GO:0060510[type II pneumocyte differentiation] GO:0060575[intestinal epithelial cell differentiation] GO:0060947[cardiac vascular smooth muscle cell differentiation] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0070315[G1 to G0 transition involved in cell differentiation] GO:0070848[response to growth factor] GO:0071371[cellular response to gonadotropin stimulus] GO:0071456[cellular response to hypoxia] GO:0071773[cellular response to BMP stimulus] GO:0098773[skin epidermis development] GO:0110024[positive regulation of cardiac muscle myoblast proliferation] GO:0140297[DNA-binding transcription factor binding] GO:1901390[positive regulation of transforming growth factor beta activation] GO:1902894[negative regulation of miRNA transcription] GO:1904003[negative regulation of sebum secreting cell proliferation] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Cardiovascular diseases Cardiac diseases Congenital malformations Congenital malformations of the circulatory system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001223[transcription coactivator binding] GO:0001949[sebaceous gland cell differentiation] GO:0002759[regulation of antimicrobial humoral response] GO:0003148[outflow tract septum morphogenesis] GO:0003162[atrioventricular node development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008270[zinc ion binding] GO:0008584[male gonad development] GO:0009410[response to xenobiotic stimulus] GO:0009653[anatomical structure morphogenesis] GO:0019901[protein kinase binding] GO:0030154[cell differentiation] GO:0030855[epithelial cell differentiation] GO:0031965[nuclear membrane] GO:0032526[response to retinoic acid] GO:0032911[negative regulation of transforming growth factor beta1 production] GO:0032912[negative regulation of transforming growth factor beta2 production] GO:0036302[atrioventricular canal development] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045165[cell fate commitment] GO:0045766[positive regulation of angiogenesis] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048731[system development] GO:0051145[smooth muscle cell differentiation] GO:0051525[NFAT protein binding] GO:0060575[intestinal epithelial cell differentiation] GO:0060947[cardiac vascular smooth muscle cell differentiation] GO:0070315[G1 to G0 transition involved in cell differentiation] GO:0070848[response to growth factor] GO:0071456[cellular response to hypoxia] GO:0098773[skin epidermis development] GO:0110024[positive regulation of cardiac muscle myoblast proliferation] GO:0140297[DNA-binding transcription factor binding] GO:1901390[positive regulation of transforming growth factor beta activation] GO:1904003[negative regulation of sebum secreting cell proliferation] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
