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    Ankle2 ankyrin repeat and LEM domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 71782, updated on 11-Apr-2024

    Summary

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    Official Symbol
    Ankle2provided by MGI
    Official Full Name
    ankyrin repeat and LEM domain containing 2provided by MGI
    Primary source
    MGI:MGI:1261856
    See related
    Ensembl:ENSMUSG00000029501 AllianceGenome:MGI:1261856
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    D5Ertd585e; 1110001J12Rik
    Summary
    Predicted to enable protein phosphatase 2A binding activity. Predicted to be involved in several processes, including mitotic nuclear membrane reassembly; negative regulation of apoptotic process; and regulation of phosphate metabolic process. Predicted to act upstream of or within cell division. Predicted to be integral component of endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. Human ortholog(s) of this gene implicated in primary autosomal recessive microcephaly 16. Orthologous to human ANKLE2 (ankyrin repeat and LEM domain containing 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in bladder adult (RPKM 8.3), CNS E11.5 (RPKM 7.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 F; 5 53.4 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (110378847..110404517)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (110231004..110256651)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene checkpoint with forkhead and ring finger domains Neighboring gene STARR-positive B cell enhancer mm9_chr5:110605377-110605678 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:110605669-110605852 Neighboring gene predicted gene 15787 Neighboring gene golgin A3 Neighboring gene uncharacterized LOC118568795 Neighboring gene STARR-seq mESC enhancer starr_13947 Neighboring gene STARR-seq mESC enhancer starr_13949 Neighboring gene phosphoglycerate mutase family member 5 Neighboring gene STARR-positive B cell enhancer ABC_E6363 Neighboring gene peroxisomal membrane protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Zinc finger protein Zfp335 is required for the formation of the naïve T cell compartment. Han BY, et al. Elife, 2014 Oct 24. PMID 25343476, Free PMC Article
    2. Tagging genes with cassette-exchange sites. Cobellis G, et al. Nucleic Acids Res, 2005 Mar 1. PMID 15741177, Free PMC Article
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Aug 31. PMID 14621295
    4. Neuron-specific protein network mapping of autism risk genes identifies shared biological mechanisms and disease-relevant pathologies. Murtaza N, et al. Cell Rep, 2022 Nov 22. PMID 36417873
    5. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Restoring the expression of one Zfp335 target, Ankle2, partially rescues T cell maturation.
      Title: Zinc finger protein Zfp335 is required for the formation of the naïve T cell compartment.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein phosphatase 2A binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein phosphatase 2A binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in central nervous system development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitotic nuclear membrane reassembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of phosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of protein dephosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein dephosphorylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ankyrin repeat and LEM domain-containing protein 2
    Names
    LEM domain-containing protein 4

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001253814.1 → NP_001240743.1  ankyrin repeat and LEM domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001240743.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC118260, AK132187, BC065071, CD538245
      Consensus CDS
      CCDS57372.1
      UniProtKB/Swiss-Prot
      Q3UQF6, Q3UY52, Q3V1X7, Q6P1H6, Q6ZQ67, Q8BRM7, Q9CTK6
      Related
      ENSMUSP00000143044.2, ENSMUST00000197188.5
      Conserved Domains (4) summary
      cd00204
      Location:342 → 457
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd12944
      Location:73 → 115
      LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
      pfam01693
      Location:225 → 256
      Cauli_VI; Caulimovirus viroplasmin
      sd00045
      Location:418 → 451
      ANK; ANK repeat [structural motif]

    2. NM_027922.2 → NP_082198.1  ankyrin repeat and LEM domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_082198.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AK132187, BC065071, CD538245
      Consensus CDS
      CCDS80360.1
      UniProtKB/Swiss-Prot
      Q6P1H6
      Related
      ENSMUSP00000031474.9, ENSMUST00000031474.11
      Conserved Domains (4) summary
      cd00204
      Location:341 → 456
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd12944
      Location:73 → 115
      LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
      pfam01693
      Location:225 → 256
      Cauli_VI; Caulimovirus viroplasmin
      sd00045
      Location:417 → 450
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      110378847..110404517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_004942566.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1H6.2 GenPept UniProtKB/Swiss-Prot:Q6P1H6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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