We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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 Plasma proteins Potential drug targets Transporters
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
4
Cytoband
p16.1
Chromosome location (bp)
6269849 - 6303265
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Participates in the regulation of cellular Ca(2+) homeostasis, at least partly, by modulating the filling state of the endoplasmic reticulum Ca(2+) store 1. Negatively regulates the ER stress response and positively regulates the stability of V-ATPase subunits ATP6V1A and ATP1B1 by preventing their degradation through an unknown proteasome-independent mechanism 2....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]...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.
Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 9TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Endocrine and metabolic diseases Diabetes Nervous system diseases Eye disease Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001822[kidney development] GO:0003091[renal water homeostasis] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0005789[endoplasmic reticulum membrane] GO:0006983[ER overload response] GO:0007601[visual perception] GO:0007605[sensory perception of sound] GO:0016020[membrane] GO:0022417[protein maturation by protein folding] GO:0030133[transport vesicle] GO:0030141[secretory granule] GO:0030425[dendrite] GO:0030433[ubiquitin-dependent ERAD pathway] GO:0030968[endoplasmic reticulum unfolded protein response] GO:0031398[positive regulation of protein ubiquitination] GO:0031410[cytoplasmic vesicle] GO:0031625[ubiquitin protein ligase binding] GO:0032469[endoplasmic reticulum calcium ion homeostasis] GO:0034976[response to endoplasmic reticulum stress] GO:0042593[glucose homeostasis] GO:0043066[negative regulation of apoptotic process] GO:0043069[negative regulation of programmed cell death] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043524[negative regulation of neuron apoptotic process] GO:0045927[positive regulation of growth] GO:0050821[protein stabilization] GO:0050877[nervous system process] GO:0051117[ATPase binding] GO:0051247[positive regulation of protein metabolic process] GO:0051928[positive regulation of calcium ion transport] GO:0055074[calcium ion homeostasis] GO:1903573[negative regulation of response to endoplasmic reticulum stress] GO:1903892[negative regulation of ATF6-mediated unfolded protein response] GO:2000675[negative regulation of type B pancreatic cell apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Nervous system diseases Eye disease Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Nervous system diseases Eye disease Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Nervous system diseases Eye disease Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Nervous system diseases Eye disease Ear disease Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Nervous system diseases Eye disease Ear disease Protein evidence (Ezkurdia et al 2014)
Transporters Accessory Factors Involved in Transport Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 8TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Human disease related genes Endocrine and metabolic diseases Diabetes Nervous system diseases Eye disease Ear disease Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001822[kidney development] GO:0003091[renal water homeostasis] GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0005789[endoplasmic reticulum membrane] GO:0006983[ER overload response] GO:0007601[visual perception] GO:0007605[sensory perception of sound] GO:0016020[membrane] GO:0022417[protein maturation by protein folding] GO:0030133[transport vesicle] GO:0030141[secretory granule] GO:0030425[dendrite] GO:0030433[ubiquitin-dependent ERAD pathway] GO:0030968[endoplasmic reticulum unfolded protein response] GO:0031398[positive regulation of protein ubiquitination] GO:0031410[cytoplasmic vesicle] GO:0031625[ubiquitin protein ligase binding] GO:0032469[endoplasmic reticulum calcium ion homeostasis] GO:0034976[response to endoplasmic reticulum stress] GO:0042593[glucose homeostasis] GO:0043066[negative regulation of apoptotic process] GO:0043069[negative regulation of programmed cell death] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043524[negative regulation of neuron apoptotic process] GO:0045927[positive regulation of growth] GO:0050821[protein stabilization] GO:0050877[nervous system process] GO:0051117[ATPase binding] GO:0051247[positive regulation of protein metabolic process] GO:0051928[positive regulation of calcium ion transport] GO:0055074[calcium ion homeostasis] GO:1903573[negative regulation of response to endoplasmic reticulum stress] GO:1903892[negative regulation of ATF6-mediated unfolded protein response] GO:2000675[negative regulation of type B pancreatic cell apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Endocrine and metabolic diseases Diabetes Nervous system diseases Eye disease Ear disease Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
