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Katnal2 katanin p60 subunit A-like 2 [ Mus musculus (house mouse) ]

Gene ID: 71206, updated on 28-Oct-2024

Summary

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Official Symbol
Katnal2provided by MGI
Official Full Name
katanin p60 subunit A-like 2provided by MGI
Primary source
MGI:MGI:1924234
See related
Ensembl:ENSMUSG00000025420 AllianceGenome:MGI:1924234
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
3110023G01Rik; 4933439B08Rik
Summary
Predicted to enable ATP hydrolysis activity. Predicted to be involved in microtubule severing. Predicted to be located in cytoplasm; microtubule; and spindle pole. Orthologous to human KATNAL2 (katanin catalytic subunit A1 like 2). [provided by Alliance of Genome Resources, Oct 2024]
Expression
Biased expression in testis adult (RPKM 8.9), CNS E11.5 (RPKM 2.5) and 5 other tissues See more
Orthologs
human all
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Genomic context

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See Katnal2 in Genome Data Viewer
Location:
18 E3; 18 52.02 cM
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (77063725..77135007, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (76976029..77047311, complement)

Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_45103 Neighboring gene immediate early response 3 interacting protein 1 Neighboring gene predicted gene, 53183 Neighboring gene haloacid dehalogenase-like hydrolase domain containing 2 Neighboring gene STARR-seq mESC enhancer starr_45107 Neighboring gene STARR-positive B cell enhancer mm9_chr18:77285922-77286223 Neighboring gene RIKEN cDNA 4930520E11 gene Neighboring gene protein inhibitor of activated STAT 2 Neighboring gene STARR-seq mESC enhancer starr_45110 Neighboring gene STARR-seq mESC enhancer starr_45112

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 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. Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice. Kang R, et al. PLoS Biol, 2024 May. PMID 38718086, Free PMC Article
  2. Katanin-like 2 (KATNAL2) functions in multiple aspects of haploid male germ cell development in the mouse. Dunleavy JEM, et al. PLoS Genet, 2017 Nov. PMID 29136647, Free PMC Article
  3. Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia. Wei X, et al. Clin Genet, 2021 Oct. PMID 34096614
  4. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics. DeSpenza T Jr, et al. Proc Natl Acad Sci U S A, 2024 Jul 2. PMID 38916997,
  5. A novel family of katanin-like 2 protein isoforms (KATNAL2), interacting with nucleotide-binding proteins Nubp1 and Nubp2, are key regulators of different MT-based processes in mammalian cells. Ververis A, et al. Cell Mol Life Sci, 2016 Jan. PMID 26153462, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
    Title: Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics.
  2. Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice.
    Title: Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice.
  3. Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.
    Title: Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia.
  4. Authors present data suggesting that depending on context, KATNAL2 can partner with the regulatory protein KATNB1 or act autonomously. Data indicate KATNAL2 may regulate delta- and epsilon-tubulin rather than classical alpha-beta-tubulin microtubule polymers, suggesting the katanin family has a greater diversity of function than previously realised.
    Title: Katanin-like 2 (KATNAL2) functions in multiple aspects of haploid male germ cell development in the mouse.
  5. KATNAL2 isoforms interact with themselves, with each other and with Nubp1 and Nubp2.
    Title: A novel family of katanin-like 2 protein isoforms (KATNAL2), interacting with nucleotide-binding proteins Nubp1 and Nubp2, are key regulators of different MT-based processes in mammalian cells.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables microtubule binding IEA
Inferred from Electronic Annotation
more info
  
enables microtubule severing ATPase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in microtubule severing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in microtubule ISO
Inferred from Sequence Orthology
more info
  
located_in microtubule ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in spindle ISO
Inferred from Sequence Orthology
more info
  
located_in spindle ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in spindle pole ISO
Inferred from Sequence Orthology
more info
  
located_in spindle pole ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
katanin p60 ATPase-containing subunit A-like 2
Names
p60 katanin-like 2
NP_001355584.1
NP_001355585.1
NP_001355586.1
NP_081997.1
XP_036017170.1

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_001368655.1 → NP_001355584.1  katanin p60 ATPase-containing subunit A-like 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC132608
    Consensus CDS
    CCDS89281.1
    UniProtKB/Swiss-Prot
    Q6NSQ2, Q9D3R6
    UniProtKB/TrEMBL
    A0A0E4HEY7
    Related
    ENSMUSP00000122079.2, ENSMUST00000126153.8
    Conserved Domains (2) summary
    smart00667
    Location:25 → 55
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:239 → 523
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  2. NM_001368656.1 → NP_001355585.1  katanin p60 ATPase-containing subunit A-like 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC132608
    UniProtKB/TrEMBL
    A0A0E4D014
    Related
    ENSMUSP00000117495.2, ENSMUST00000137498.8
    Conserved Domains (2) summary
    smart00667
    Location:25 → 55
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:237 → 521
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  3. NM_001368657.1 → NP_001355586.1  katanin p60 ATPase-containing subunit A-like 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC132608
    UniProtKB/TrEMBL
    A0A0E4HEY7
    Conserved Domains (2) summary
    smart00667
    Location:6 → 36
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:220 → 504
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  4. NM_027721.2 → NP_081997.1  katanin p60 ATPase-containing subunit A-like 2 isoform 4

    See identical proteins and their annotated locations for NP_081997.1

    Status: PROVISIONAL

    Source sequence(s)
    AK017114
    Consensus CDS
    CCDS37865.1
    UniProtKB/TrEMBL
    D6RGM7
    Related
    ENSMUSP00000026486.7, ENSMUST00000026486.13
    Conserved Domains (3) summary
    smart00667
    Location:25 → 55
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:239 → 408
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:291 → 406
    AAA; ATPase family associated with various cellular activities (AAA)

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_000084.7 Reference GRCm39 C57BL/6J

    Range
    77063725..77135007 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036161277.1 → XP_036017170.1  katanin p60 ATPase-containing subunit A-like 2 isoform X1

    UniProtKB/TrEMBL
    D3Z0U5
    Related
    ENSMUSP00000118511.2, ENSMUST00000137354.8
    Conserved Domains (2) summary
    pfam17862
    Location:228 → 266
    AAA_lid_3; AAA+ lid domain
    cd19509
    Location:28 → 192
    RecA-like_VPS4-like; ATPase domain of VPS4, ATAD1, K, KTNA1, Spastin, FIGL-1 and similar ATPase domains

RNA

  1. XR_001782393.2 RNA Sequence

    Related
    ENSMUST00000122984.8
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9D3R6.2 GenPept UniProtKB/Swiss-Prot:Q9D3R6

Gene LinkOut

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