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    ANKLE2 ankyrin repeat and LEM domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 23141, updated on 10-Dec-2024

    Summary

    Official Symbol
    ANKLE2provided by HGNC
    Official Full Name
    ankyrin repeat and LEM domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:29101
    See related
    Ensembl:ENSG00000176915 MIM:616062; AllianceGenome:HGNC:29101
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Lem4; LEMD7; MCPH16; KIAA0692
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 31.1), lymph node (RPKM 13.1) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See ANKLE2 in Genome Data Viewer
    Location:
    12q24.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (132725503..132761832, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (132774758..132812890, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133302089..133338418, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5125 Neighboring gene PGAM family member 5, mitochondrial serine/threonine protein phosphatase Neighboring gene RNA, 5S ribosomal pseudogene 379 Neighboring gene TPD52 like 2 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr12:133334029-133334208 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:133337764-133338632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7389 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26051 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7390 Neighboring gene golgin A3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:133365291-133365792 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26074 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7391 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5128 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5129 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7392 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5130 Neighboring gene ribosomal protein S11 pseudogene 5 Neighboring gene RNA, U6 small nuclear 327, pseudogene Neighboring gene checkpoint with forkhead and ring finger domains

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (828 hits/1284 screens)

    Associated conditions

    Description Tests
    Microcephaly 16, primary, autosomal recessive
    MedGen: C4225249 OMIM: 616681 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genome-wide association study of antibody response to smallpox vaccine.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Clone Names

    • FLJ22280, FLJ36132, KIAA0692

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum  
    located_in endoplasmic reticulum membrane PubMed 
    located_in endoplasmic reticulum membrane  
    located_in membrane PubMed 

    General protein information

    Preferred Names
    ankyrin repeat and LEM domain-containing protein 2
    Names
    LEM domain containing 7
    LEM domain-containing protein 4
    LEM-domain protein 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_034022.1 RefSeqGene

      Range
      5057..41386
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015114.3 → NP_055929.1  ankyrin repeat and LEM domain-containing protein 2

      See identical proteins and their annotated locations for NP_055929.1

      Status: REVIEWED

      Source sequence(s)
      AB014592, AC135586, AK293028, BC043157, BC062373, DB451935, DB453975, R59085
      Consensus CDS
      CCDS41869.1
      UniProtKB/Swiss-Prot
      A8KAG3, B3KN97, B3KSF8, O75176, Q6P6A5, Q86XL3, Q8TAZ9, Q96DH4
      UniProtKB/TrEMBL
      A0A220T1R9
      Related
      ENSP00000350686.5, ENST00000357997.10
      Conserved Domains (5) summary
      cd00204
      Location:334 → 464
      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:71 → 113
      LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
      pfam01693
      Location:218 → 249
      Cauli_VI; Caulimovirus viroplasmin
      pfam12796
      Location:356 → 435
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:410 → 443
      ANK; ANK repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      132725503..132761832 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719735.2 → XP_006719798.1  ankyrin repeat and LEM domain-containing protein 2 isoform X2

      Conserved Domains (5) summary
      cd00204
      Location:334 → 464
      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:71 → 113
      LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
      pfam01693
      Location:218 → 249
      Cauli_VI; Caulimovirus viroplasmin
      pfam12796
      Location:356 → 435
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:410 → 443
      ANK; ANK repeat [structural motif]
    2. XM_005266159.4 → XP_005266216.1  ankyrin repeat and LEM domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005266216.1

      UniProtKB/TrEMBL
      A0A220T1R9
      Conserved Domains (5) summary
      cd00204
      Location:272 → 402
      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:9 → 51
      LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
      pfam01693
      Location:156 → 187
      Cauli_VI; Caulimovirus viroplasmin
      pfam12796
      Location:294 → 373
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:348 → 381
      ANK; ANK repeat [structural motif]
    3. XM_024448899.2 → XP_024304667.1  ankyrin repeat and LEM domain-containing protein 2 isoform X5

    4. XM_011534787.4 → XP_011533089.1  ankyrin repeat and LEM domain-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011533089.1

      UniProtKB/Swiss-Prot
      Q86XL3
      Conserved Domains (5) summary
      cd00204
      Location:334 → 464
      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:71 → 113
      LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
      pfam01693
      Location:218 → 249
      Cauli_VI; Caulimovirus viroplasmin
      pfam12796
      Location:356 → 435
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:410 → 443
      ANK; ANK repeat [structural motif]
    5. XM_011534788.2 → XP_011533090.1  ankyrin repeat and LEM domain-containing protein 2 isoform X3

      See identical proteins and their annotated locations for XP_011533090.1

      UniProtKB/Swiss-Prot
      Q86XL3
      Conserved Domains (5) summary
      cd00204
      Location:334 → 464
      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:71 → 113
      LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
      pfam01693
      Location:218 → 249
      Cauli_VI; Caulimovirus viroplasmin
      pfam12796
      Location:356 → 435
      Ank_2; Ankyrin repeats (3 copies)
      sd00045
      Location:410 → 443
      ANK; ANK repeat [structural motif]
    6. XM_047428585.1 → XP_047284541.1  ankyrin repeat and LEM domain-containing protein 2 isoform X4

    7. XM_047428586.1 → XP_047284542.1  ankyrin repeat and LEM domain-containing protein 2 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      132774758..132812890 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371538.1 → XP_054227513.1  ankyrin repeat and LEM domain-containing protein 2 isoform X2

    2. XM_054371537.1 → XP_054227512.1  ankyrin repeat and LEM domain-containing protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A220T1R9
    3. XM_054371542.1 → XP_054227517.1  ankyrin repeat and LEM domain-containing protein 2 isoform X5

    4. XM_054371540.1 → XP_054227515.1  ankyrin repeat and LEM domain-containing protein 2 isoform X3

    5. XM_054371539.1 → XP_054227514.1  ankyrin repeat and LEM domain-containing protein 2 isoform X3

    6. XM_054371541.1 → XP_054227516.1  ankyrin repeat and LEM domain-containing protein 2 isoform X4

    7. XM_054371543.1 → XP_054227518.1  ankyrin repeat and LEM domain-containing protein 2 isoform X6

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