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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 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
17
Cytoband
q12
Chromosome location (bp)
36936785 - 36944612
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis....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.
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 member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor important for the development of the renal and urogenital systems. This gene is a candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder characterized by anomalies in the female genital tract. [provided by RefSeq, Dec 2010]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes Candidate cancer biomarkers Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000785[chromatin] GO:0000977[RNA polymerase II transcription 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:0001655[urogenital system development] GO:0001656[metanephros development] GO:0001657[ureteric bud development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001702[gastrulation with mouth forming second] GO:0001705[ectoderm formation] GO:0001706[endoderm formation] GO:0001822[kidney development] GO:0001823[mesonephros development] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005667[transcription regulator complex] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006366[transcription by RNA polymerase II] GO:0007267[cell-cell signaling] GO:0007389[pattern specification process] GO:0007399[nervous system development] GO:0007492[endoderm development] GO:0008045[motor neuron axon guidance] GO:0009653[anatomical structure morphogenesis] GO:0009791[post-embryonic development] GO:0009880[embryonic pattern specification] GO:0009887[animal organ morphogenesis] GO:0009948[anterior/posterior axis specification] GO:0009952[anterior/posterior pattern specification] GO:0009953[dorsal/ventral pattern formation] GO:0010468[regulation of gene expression] GO:0010842[retina layer formation] GO:0021510[spinal cord development] GO:0021517[ventral spinal cord development] GO:0021527[spinal cord association neuron differentiation] GO:0021537[telencephalon development] GO:0021549[cerebellum development] GO:0021702[cerebellar Purkinje cell differentiation] GO:0021871[forebrain regionalization] GO:0021937[cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation] GO:0030154[cell differentiation] GO:0030182[neuron differentiation] GO:0032525[somite rostral/caudal axis specification] GO:0032991[protein-containing complex] GO:0035502[metanephric part of ureteric bud development] GO:0035846[oviduct epithelium development] GO:0035847[uterine epithelium development] GO:0035849[nephric duct elongation] GO:0040019[positive regulation of embryonic development] GO:0043565[sequence-specific DNA binding] GO:0044344[cellular response to fibroblast growth factor stimulus] GO:0045892[negative regulation of DNA-templated transcription] GO:0045893[positive regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0048382[mesendoderm development] GO:0048646[anatomical structure formation involved in morphogenesis] GO:0048703[embryonic viscerocranium morphogenesis] GO:0048793[pronephros development] GO:0060041[retina development in camera-type eye] GO:0060059[embryonic retina morphogenesis in camera-type eye] GO:0060065[uterus development] GO:0060066[oviduct development] GO:0060067[cervix development] GO:0060068[vagina development] GO:0060322[head development] GO:0060429[epithelium development] GO:0061205[paramesonephric duct development] GO:0072049[comma-shaped body morphogenesis] GO:0072050[S-shaped body morphogenesis] GO:0072077[renal vesicle morphogenesis] GO:0072164[mesonephric tubule development] GO:0072177[mesonephric duct development] GO:0072178[nephric duct morphogenesis] GO:0072197[ureter morphogenesis] GO:0072224[metanephric glomerulus development] GO:0072278[metanephric comma-shaped body morphogenesis] GO:0072283[metanephric renal vesicle morphogenesis] GO:0072284[metanephric S-shaped body morphogenesis] GO:0090009[primitive streak formation] GO:0090190[positive regulation of branching involved in ureteric bud morphogenesis] GO:0097379[dorsal spinal cord interneuron posterior axon guidance] GO:0097477[lateral motor column neuron migration] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000543[positive regulation of gastrulation] GO:2000744[positive regulation of anterior head development] GO:2000768[positive regulation of nephron tubule epithelial cell differentiation]