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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
12
Cytoband
q24.33
Chromosome location (bp)
132725503 - 132761832
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 mitotic nuclear envelope reassembly by promoting dephosphorylation of BAF/BANF1 during mitotic exit 1. Coordinates the control of BAF/BANF1 dephosphorylation by inhibiting VRK1 kinase and promoting dephosphorylation of BAF/BANF1 by protein phosphatase 2A (PP2A), thereby facilitating nuclear envelope assembly 2. May regulate nuclear localization of VRK1 in non-dividing cells 3. It is unclear whether it acts as a real PP2A regulatory subunit or whether it is involved in recruitment of the PP2A complex 4. Involved in brain development 5....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, Cell division, Mitosis
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]...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.
Q86XL3 [Direct mapping] Ankyrin repeat and LEM domain-containing protein 2
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Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 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 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system 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:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0007049[cell cycle] GO:0007084[mitotic nuclear membrane reassembly] GO:0007417[central nervous system development] GO:0016020[membrane] GO:0019888[protein phosphatase regulator activity] GO:0035307[positive regulation of protein dephosphorylation] GO:0042326[negative regulation of phosphorylation] GO:0043066[negative regulation of apoptotic process] GO:0050790[regulation of catalytic activity] GO:0051301[cell division] GO:0051721[protein phosphatase 2A binding]
F5H1D4 [Direct mapping] Ankyrin repeat and LEM domain-containing protein 2
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
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GO:0035307[positive regulation of protein dephosphorylation] GO:0051721[protein phosphatase 2A binding]
Q86XL3 [Direct mapping] Ankyrin repeat and LEM domain-containing protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0007049[cell cycle] GO:0007084[mitotic nuclear membrane reassembly] GO:0007417[central nervous system development] GO:0016020[membrane] GO:0019888[protein phosphatase regulator activity] GO:0035307[positive regulation of protein dephosphorylation] GO:0042326[negative regulation of phosphorylation] GO:0043066[negative regulation of apoptotic process] GO:0050790[regulation of catalytic activity] GO:0051301[cell division] GO:0051721[protein phosphatase 2A binding]
Q86XL3 [Direct mapping] Ankyrin repeat and LEM domain-containing protein 2
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0007049[cell cycle] GO:0007084[mitotic nuclear membrane reassembly] GO:0007417[central nervous system development] GO:0016020[membrane] GO:0019888[protein phosphatase regulator activity] GO:0035307[positive regulation of protein dephosphorylation] GO:0042326[negative regulation of phosphorylation] GO:0043066[negative regulation of apoptotic process] GO:0050790[regulation of catalytic activity] GO:0051301[cell division] GO:0051721[protein phosphatase 2A binding]
The Human Protein Atlas project is funded
