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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.
Cancer-related genes Disease related genes FDA approved drug targets Human disease related genes Nuclear receptors Plasma proteins 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
p25.2
Chromosome location (bp)
12287368 - 12434356
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).
In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl
The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.
At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.
Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).
The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).
If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.
Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
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.
Nuclear receptors Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases 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 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:0001103 [RNA polymerase II repressing transcription factor binding] GO:0001227 [DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001890 [placenta development] GO:0002674 [negative regulation of acute inflammatory response] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003690 [double-stranded DNA binding] GO:0003700 [DNA-binding transcription factor activity] GO:0004879 [nuclear receptor activity] GO:0004955 [prostaglandin receptor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription by RNA polymerase II] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0006629 [lipid metabolic process] GO:0006631 [fatty acid metabolic process] GO:0006919 [activation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0007165 [signal transduction] GO:0007186 [G protein-coupled receptor signaling pathway] GO:0007507 [heart development] GO:0007584 [response to nutrient] GO:0008022 [protein C-terminus binding] GO:0008134 [transcription factor binding] GO:0008217 [regulation of blood pressure] GO:0008270 [zinc ion binding] GO:0008285 [negative regulation of cell population proliferation] GO:0009409 [response to cold] GO:0009612 [response to mechanical stimulus] GO:0009755 [hormone-mediated signaling pathway] GO:0010033 [response to organic substance] GO:0010742 [macrophage derived foam cell differentiation] GO:0010745 [negative regulation of macrophage derived foam cell differentiation] GO:0010887 [negative regulation of cholesterol storage] GO:0010891 [negative regulation of sequestering of triglyceride] GO:0014070 [response to organic cyclic compound] GO:0015909 [long-chain fatty acid transport] GO:0016525 [negative regulation of angiogenesis] GO:0019216 [regulation of lipid metabolic process] GO:0019395 [fatty acid oxidation] GO:0019899 [enzyme binding] GO:0019903 [protein phosphatase binding] GO:0030154 [cell differentiation] GO:0030224 [monocyte differentiation] GO:0030308 [negative regulation of cell growth] GO:0030331 [estrogen receptor binding] GO:0030514 [negative regulation of BMP signaling pathway] GO:0030855 [epithelial cell differentiation] GO:0031000 [response to caffeine] GO:0031100 [animal organ regeneration] GO:0032869 [cellular response to insulin stimulus] GO:0032966 [negative regulation of collagen biosynthetic process] GO:0033189 [response to vitamin A] GO:0033613 [activating transcription factor binding] GO:0033993 [response to lipid] GO:0035357 [peroxisome proliferator activated receptor signaling pathway] GO:0035902 [response to immobilization stress] GO:0042277 [peptide binding] GO:0042493 [response to drug] GO:0042593 [glucose homeostasis] GO:0042594 [response to starvation] GO:0042752 [regulation of circadian rhythm] GO:0042802 [identical protein binding] GO:0042953 [lipoprotein transport] GO:0043065 [positive regulation of apoptotic process] GO:0043231 [intracellular membrane-bounded organelle] GO:0043235 [receptor complex] GO:0043388 [positive regulation of DNA binding] GO:0043537 [negative regulation of blood vessel endothelial cell migration] GO:0043565 [sequence-specific DNA binding] GO:0043621 [protein self-association] GO:0043627 [response to estrogen] GO:0045087 [innate immune response] GO:0045165 [cell fate commitment] GO:0045598 [regulation of fat cell differentiation] GO:0045600 [positive regulation of fat cell differentiation] GO:0045668 [negative regulation of osteoblast differentiation] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045923 [positive regulation of fatty acid metabolic process] GO:0045944 [positive regulation of transcription by RNA polymerase II] GO:0046321 [positive regulation of fatty acid oxidation] GO:0046872 [metal ion binding] GO:0046965 [retinoid X receptor binding] GO:0048384 [retinoic acid receptor signaling pathway] GO:0048469 [cell maturation] GO:0048471 [perinuclear region of cytoplasm] GO:0048511 [rhythmic process] GO:0048662 [negative regulation of smooth muscle cell proliferation] GO:0048714 [positive regulation of oligodendrocyte differentiation] GO:0050544 [arachidonic acid binding] GO:0050692 [DNA binding domain binding] GO:0050693 [LBD domain binding] GO:0050728 [negative regulation of inflammatory response] GO:0050872 [white fat cell differentiation] GO:0051091 [positive regulation of DNA-binding transcription factor activity] GO:0051393 [alpha-actinin binding] GO:0051974 [negative regulation of telomerase activity] GO:0055088 [lipid homeostasis] GO:0060100 [positive regulation of phagocytosis, engulfment] GO:0060336 [negative regulation of interferon-gamma-mediated signaling pathway] GO:0060694 [regulation of cholesterol transporter activity] GO:0060965 [negative regulation of gene silencing by miRNA] GO:0070888 [E-box binding] GO:0071300 [cellular response to retinoic acid] GO:0071306 [cellular response to vitamin E] GO:0071379 [cellular response to prostaglandin stimulus] GO:0071380 [cellular response to prostaglandin E stimulus] GO:0071404 [cellular response to low-density lipoprotein particle stimulus] GO:0071455 [cellular response to hyperoxia] GO:0090575 [RNA polymerase II transcription regulator complex] GO:1901558 [response to metformin] GO:1902895 [positive regulation of pri-miRNA transcription by RNA polymerase II] GO:1904706 [negative regulation of vascular associated smooth muscle cell proliferation] GO:1905461 [positive regulation of vascular associated smooth muscle cell apoptotic process] GO:1905563 [negative regulation of vascular endothelial cell proliferation] GO:1905599 [positive regulation of low-density lipoprotein receptor activity] GO:2000230 [negative regulation of pancreatic stellate cell proliferation] GO:2000272 [negative regulation of signaling receptor activity]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of endocrine organs Congenital disorders of metabolism Other congenital disorders of metabolism Endocrine and metabolic diseases Diabetes Other endocrine and metabolic diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
