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

Gene ID: 23141, updated on 11-Sep-2019

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
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

Genomic context

See ANKLE2 in Genome Data Viewer
Location:
12q24.33
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (132725503..132761832, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (133302254..133338451, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes 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 golgin A3 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

Description
Genome-wide association study of antibody response to smallpox vaccine.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Initiation of Nuclear Envelope Reformation, organism-specific biosystem (from REACTOME)
    Initiation of Nuclear Envelope Reformation, organism-specific biosystemReassembly of the nuclear envelope is initiated at late anaphase/early telophase when BANF1 (BAF) accumulates on the decondensing chromosome mass close to the spindle ('core' region), together with E...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Nuclear Envelope Reassembly, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Reassembly, organism-specific biosystemThe reassembly of the nuclear envelope (NE) around separated sister chromatids begins in late anaphase and is completed in telophase. Nuclear pore complexes (NPCs) reassemble and insert into the refo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22280, FLJ36132, KIAA0692

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase 2A binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphatase 2A binding IDA
Inferred from Direct Assay
more info
PubMed 
protein phosphatase regulator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell division IEA
Inferred from Electronic Annotation
more info
 
central nervous system development IDA
Inferred from Direct Assay
more info
PubMed 
mitotic nuclear envelope reassembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic nuclear envelope reassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic nuclear envelope reassembly TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of protein dephosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of catalytic activity TAS
Traceable Author Statement
more info
PubMed 
regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_015114.3NP_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
    Q86XL3
    Related
    ENSP00000350686.5, ENST00000357997.10
    Conserved Domains (5) summary
    cd00204
    Location:334464
    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:71113
    LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
    pfam01693
    Location:218249
    Cauli_VI; Caulimovirus viroplasmin
    pfam12796
    Location:356435
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:410443
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (5) summary
    cd00204
    Location:334464
    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:71113
    LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
    pfam01693
    Location:218249
    Cauli_VI; Caulimovirus viroplasmin
    pfam12796
    Location:356435
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:410443
    ANK; ANK repeat [structural motif]
  2. XM_005266159.3XP_005266216.1  ankyrin repeat and LEM domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005266216.1

    Conserved Domains (5) summary
    cd00204
    Location:272402
    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:951
    LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
    pfam01693
    Location:156187
    Cauli_VI; Caulimovirus viroplasmin
    pfam12796
    Location:294373
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:348381
    ANK; ANK repeat [structural motif]
  3. XM_005266160.2XP_005266217.1  ankyrin repeat and LEM domain-containing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005266217.1

    Conserved Domains (5) summary
    cd00204
    Location:272402
    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:951
    LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
    pfam01693
    Location:156187
    Cauli_VI; Caulimovirus viroplasmin
    pfam12796
    Location:294373
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:348381
    ANK; ANK repeat [structural motif]
  4. XM_024448899.1XP_024304667.1  ankyrin repeat and LEM domain-containing protein 2 isoform X4

  5. XM_011534787.3XP_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:334464
    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:71113
    LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
    pfam01693
    Location:218249
    Cauli_VI; Caulimovirus viroplasmin
    pfam12796
    Location:356435
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:410443
    ANK; ANK repeat [structural motif]
  6. XM_011534788.1XP_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:334464
    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:71113
    LEM_ANKL2; LEM (Lap2/Emerin/Man1) domain found in ankyrin repeat and LEM domain-containing protein 2 (ANKL2)
    pfam01693
    Location:218249
    Cauli_VI; Caulimovirus viroplasmin
    pfam12796
    Location:356435
    Ank_2; Ankyrin repeats (3 copies)
    sd00045
    Location:410443
    ANK; ANK repeat [structural motif]

RNA

  1. XR_001748638.1 RNA Sequence

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