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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
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
19
Cytoband
p13.2
Chromosome location (bp)
11164270 - 11197791
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in transcription regulation by sequestering in the cytoplasm nuclear receptor coactivators such as NCOA1, NCOA2 and NCOA3 1. Involved in regulation of caspase-independent apoptosis by sequestering the proapoptotic factor AIFM1 in mitochondria 2. Pro-apoptotic stimuli can induce its proteasomal degradation allowing the translocation of AIFM1 to the nucleus to induce apoptosis 3. Involved in the negative control of vitamin D receptor signaling pathway 4. Involved in actin stress fibers formation through its interaction with ARHGDIA and the regulation of the Rho signaling pathway 5,6. May thereby play a role in cell adhesion and migration, regulating for instance podocytes migration during development of the kidney 7. Through the Rho signaling pathway may also regulate cell proliferation (By similarity)....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]...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.
Q63ZY3 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Urinary system diseases Kidney diseases 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:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0035023[regulation of Rho protein signal transduction] GO:0043069[negative regulation of programmed cell death] GO:0070563[negative regulation of vitamin D receptor signaling pathway] GO:0072073[kidney epithelium development] GO:0090521[podocyte cell migration] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle]
K7EL48 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 2
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DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
K7EIU4 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
Q63ZY3 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Urinary system diseases Kidney diseases 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:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0035023[regulation of Rho protein signal transduction] GO:0043069[negative regulation of programmed cell death] GO:0070563[negative regulation of vitamin D receptor signaling pathway] GO:0072073[kidney epithelium development] GO:0090521[podocyte cell migration] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle]
Q63ZY3 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Urinary system diseases Kidney 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:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0006915[apoptotic process] GO:0008285[negative regulation of cell population proliferation] GO:0033147[negative regulation of intracellular estrogen receptor signaling pathway] GO:0035023[regulation of Rho protein signal transduction] GO:0043069[negative regulation of programmed cell death] GO:0070563[negative regulation of vitamin D receptor signaling pathway] GO:0072073[kidney epithelium development] GO:0090521[podocyte cell migration] GO:2000134[negative regulation of G1/S transition of mitotic cell cycle]
K7ES05 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
K7ERU2 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Urinary system diseases Kidney diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
