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KATNAL2 katanin catalytic subunit A1 like 2 [ Homo sapiens (human) ]

Gene ID: 83473, updated on 11-Apr-2024

Summary

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Official Symbol
KATNAL2provided by HGNC
Official Full Name
katanin catalytic subunit A1 like 2provided by HGNC
Primary source
HGNC:HGNC:25387
See related
Ensembl:ENSG00000167216 MIM:614697; AllianceGenome:HGNC:25387
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable microtubule-severing ATPase activity. Predicted to be involved in cytoplasmic microtubule organization. Located in cytoplasm; microtubule; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 2.3), thyroid (RPKM 1.9) and 23 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
18q21.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (46917594..47102243)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (47108258..47292540)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (44497557..44628614)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene protein inhibitor of activated STAT 2 Neighboring gene ubiquitin specific peptidase 4 (proto-oncogene) pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13282 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:44447848-44449047 Neighboring gene uncharacterized LOC124904294 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:44479065-44479890 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44490867-44491368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44491369-44491868 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr18:44496866-44497619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44499127-44499879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44546997-44547496 Neighboring gene elongin A3 family member D, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44553169-44553932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44552405-44553168 Neighboring gene MPRA-validated peak3137 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44554945-44555448 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44555449-44555951 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:44555952-44556454 Neighboring gene elongin A3 family member B, pseudogene Neighboring gene elongin A2 Neighboring gene uncharacterized LOC105372098 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:44626710-44626922 Neighboring gene small ubiquitin-related modifier 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:44665671-44666170 Neighboring gene haloacid dehalogenase like hydrolase domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13285 Neighboring gene immediate early response 3 interacting protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. Ropers HH, et al. Eur J Med Genet, 2015 Dec. PMID 26506440
  2. Biallelic mutations in KATNAL2 cause male infertility due to oligo-astheno-teratozoospermia. Wei X, et al. Clin Genet, 2021 Oct. PMID 34096614
  3. A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated Phenotype Discovery in Developing Neurons. Williams MR, et al. Sci Rep, 2016 May 10. PMID 27161796, Free PMC Article
  4. Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia. Lendvai Á, et al. Epigenetics, 2012 Nov. PMID 23018867, Free PMC Article
  5. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Neale BM, et al. Nature, 2012 Apr 4. PMID 22495311, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. KATNAL2 methylation correlates with severity of cervical intraepithelial neoplasia
    Title: Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia.
  3. results from de novo events and a large parallel case-control study provide strong evidence in favour of CHD8 and KATNAL2 as genuine autism risk factors
    Title: Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2018-11-28)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2018-11-28)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Meta-analysis of genome-wide association studies for personality.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Clone Names

  • MGC33211, DKFZp667C165

Gene Ontology Provided by GOA

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
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cytoplasmic microtubule organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in microtubule severing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of katanin complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in microtubule cytoskeleton NAS
Non-traceable Author Statement
more info
 PubMed 
located_in spindle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in spindle pole IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
katanin p60 ATPase-containing subunit A-like 2
Names
katanin catalytic subunit A like 2
katanin p60 subunit A like 2
p60 katanin-like 2
NP_001340828.1
NP_001340829.1
NP_001340830.1
NP_001340831.1
NP_001340832.1
NP_001340833.1
NP_001340834.1
NP_001340835.1
NP_001340836.1
NP_001340837.1
NP_001340838.1
NP_001354550.1
NP_001374619.1
NP_112593.2
XP_005258418.1
XP_011524521.1
XP_011524522.1
XP_011524523.1
XP_011524525.1
XP_016881520.1
XP_047293833.1
XP_047293834.1
XP_047293835.1
XP_047293836.1
XP_054175218.1
XP_054175219.1
XP_054175220.1
XP_054175221.1
XP_054175222.1
XP_054175223.1
XP_054175224.1
XP_054175225.1
XP_054175226.1
XP_054175227.1

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_001353899.1 → NP_001340828.1  katanin p60 ATPase-containing subunit A-like 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373, CA311572
    Conserved Domains (2) summary
    smart00667
    Location:51 → 81
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:264 → 559
    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_001353900.1 → NP_001340829.1  katanin p60 ATPase-containing subunit A-like 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373, CA311572
    Conserved Domains (2) summary
    smart00667
    Location:51 → 81
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:263 → 558
    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_001353901.1 → NP_001340830.1  katanin p60 ATPase-containing subunit A-like 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373
    UniProtKB/TrEMBL
    A0A8I5QL41
    Conserved Domains (2) summary
    smart00667
    Location:25 → 55
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:238 → 426
    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_001353902.1 → NP_001340831.1  katanin p60 ATPase-containing subunit A-like 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373
    UniProtKB/TrEMBL
    A0A8I5QL41
    Related
    ENSP00000510745.1, ENST00000686215.1
    Conserved Domains (2) summary
    smart00667
    Location:51 → 81
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:152 → 419
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  5. NM_001353903.1 → NP_001340832.1  katanin p60 ATPase-containing subunit A-like 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373, CA311572
    Consensus CDS
    CCDS92457.1
    UniProtKB/TrEMBL
    K7EIJ8
    Conserved Domains (1) summary
    COG0464
    Location:127 → 422
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  6. NM_001353904.1 → NP_001340833.1  katanin p60 ATPase-containing subunit A-like 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373, CA311572
    Conserved Domains (1) summary
    COG0464
    Location:15 → 389
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  7. NM_001353905.1 → NP_001340834.1  katanin p60 ATPase-containing subunit A-like 2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373
    Conserved Domains (1) summary
    COG0464
    Location:127 → 315
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  8. NM_001353906.1 → NP_001340835.1  katanin p60 ATPase-containing subunit A-like 2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373
    Conserved Domains (1) summary
    COG0464
    Location:127 → 315
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  9. NM_001353907.1 → NP_001340836.1  katanin p60 ATPase-containing subunit A-like 2 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373
    UniProtKB/TrEMBL
    A0A8I5KR90
    Related
    ENSP00000509033.1, ENST00000687291.1
    Conserved Domains (1) summary
    COG0464
    Location:127 → 293
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  10. NM_001353908.1 → NP_001340837.1  katanin p60 ATPase-containing subunit A-like 2 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373
    Consensus CDS
    CCDS92458.1
    UniProtKB/TrEMBL
    K7EPQ6
    Related
    ENSP00000467488.2, ENST00000591522.2
    Conserved Domains (1) summary
    COG0464
    Location:15 → 282
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  11. NM_001353909.1 → NP_001340838.1  katanin p60 ATPase-containing subunit A-like 2 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373
    Conserved Domains (1) summary
    COG0464
    Location:15 → 259
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  12. NM_001367621.1 → NP_001354550.1  katanin p60 ATPase-containing subunit A-like 2 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373
    Consensus CDS
    CCDS92456.1
    UniProtKB/Swiss-Prot
    Q8IYT4
    Related
    ENSP00000348478.6, ENST00000356157.12
    Conserved Domains (3) summary
    smart00667
    Location:25 → 55
    LisH; Lissencephaly type-1-like homology motif
    pfam17862
    Location:450 → 494
    AAA_lid_3; AAA+ lid domain
    cd19509
    Location:256 → 420
    RecA-like_VPS4-like; ATPase domain of VPS4, ATAD1, K, KTNA1, Spastin, FIGL-1 and similar ATPase domains

  13. NM_001387690.1 → NP_001374619.1  katanin p60 ATPase-containing subunit A-like 2 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373
    Consensus CDS
    CCDS92456.1
    UniProtKB/Swiss-Prot
    Q8IYT4
    Related
    ENSP00000508137.1, ENST00000683218.1
    Conserved Domains (3) summary
    smart00667
    Location:25 → 55
    LisH; Lissencephaly type-1-like homology motif
    pfam17862
    Location:450 → 494
    AAA_lid_3; AAA+ lid domain
    cd19509
    Location:256 → 420
    RecA-like_VPS4-like; ATPase domain of VPS4, ATAD1, K, KTNA1, Spastin, FIGL-1 and similar ATPase domains

  14. NM_031303.3 → NP_112593.2  katanin p60 ATPase-containing subunit A-like 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC012254, BC034999, BI561067, CA311572, CN303333
    Consensus CDS
    CCDS32828.1
    UniProtKB/Swiss-Prot
    Q8IYT4
    Related
    ENSP00000245121.4, ENST00000245121.10
    Conserved Domains (2) summary
    cd19509
    Location:184 → 348
    RecA-like_VPS4-like; ATPase domain of VPS4, ATAD1, K, KTNA1, Spastin, FIGL-1 and similar ATPase domains
    pfam17862
    Location:378 → 422
    AAA_lid_3; AAA+ lid domain

RNA

  1. NR_148563.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC012254, AC090373, CA311572

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    46917594..47102243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437879.1 → XP_047293835.1  katanin p60 ATPase-containing subunit A-like 2 isoform X5

  2. XM_011526220.3 → XP_011524522.1  katanin p60 ATPase-containing subunit A-like 2 isoform X3

    UniProtKB/TrEMBL
    A0A8I5QL41
    Conserved Domains (3) summary
    smart00667
    Location:51 → 81
    LisH; Lissencephaly type-1-like homology motif
    smart00382
    Location:312 → 448
    AAA; ATPases associated with a variety of cellular activities
    pfam00004
    Location:316 → 429
    AAA; ATPase family associated with various cellular activities (AAA)

  3. XM_047437880.1 → XP_047293836.1  katanin p60 ATPase-containing subunit A-like 2 isoform X6

  4. XM_047437878.1 → XP_047293834.1  katanin p60 ATPase-containing subunit A-like 2 isoform X4

  5. XM_011526221.4 → XP_011524523.1  katanin p60 ATPase-containing subunit A-like 2 isoform X7

    UniProtKB/TrEMBL
    A0A8I5QL41
    Conserved Domains (3) summary
    smart00667
    Location:51 → 81
    LisH; Lissencephaly type-1-like homology motif
    smart00382
    Location:312 → 441
    AAA; ATPases associated with a variety of cellular activities
    pfam00004
    Location:316 → 431
    AAA; ATPase family associated with various cellular activities (AAA)

  6. XM_011526223.4 → XP_011524525.1  katanin p60 ATPase-containing subunit A-like 2 isoform X8

    UniProtKB/TrEMBL
    A0A8I5QL41
    Conserved Domains (3) summary
    smart00667
    Location:51 → 81
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:264 → 429
    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:316 → 429
    AAA; ATPase family associated with various cellular activities (AAA)

  7. XM_011526219.4 → XP_011524521.1  katanin p60 ATPase-containing subunit A-like 2 isoform X1

    Conserved Domains (3) summary
    smart00667
    Location:51 → 81
    LisH; Lissencephaly type-1-like homology motif
    COG0464
    Location:264 → 429
    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:316 → 429
    AAA; ATPase family associated with various cellular activities (AAA)

  8. XM_047437877.1 → XP_047293833.1  katanin p60 ATPase-containing subunit A-like 2 isoform X2

  9. XM_017026031.2 → XP_016881520.1  katanin p60 ATPase-containing subunit A-like 2 isoform X9

    UniProtKB/TrEMBL
    K7EIJ8
    Conserved Domains (1) summary
    COG0464
    Location:127 → 422
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

  10. XM_005258361.4 → XP_005258418.1  katanin p60 ATPase-containing subunit A-like 2 isoform X9

    UniProtKB/TrEMBL
    K7EIJ8
    Related
    ENSP00000464779.2, ENST00000588433.6
    Conserved Domains (1) summary
    COG0464
    Location:127 → 422
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    47108258..47292540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054319247.1 → XP_054175222.1  katanin p60 ATPase-containing subunit A-like 2 isoform X5

  2. XM_054319245.1 → XP_054175220.1  katanin p60 ATPase-containing subunit A-like 2 isoform X3

  3. XM_054319248.1 → XP_054175223.1  katanin p60 ATPase-containing subunit A-like 2 isoform X6

  4. XM_054319246.1 → XP_054175221.1  katanin p60 ATPase-containing subunit A-like 2 isoform X4

  5. XM_054319249.1 → XP_054175224.1  katanin p60 ATPase-containing subunit A-like 2 isoform X7

  6. XM_054319250.1 → XP_054175225.1  katanin p60 ATPase-containing subunit A-like 2 isoform X8

  7. XM_054319243.1 → XP_054175218.1  katanin p60 ATPase-containing subunit A-like 2 isoform X1

  8. XM_054319244.1 → XP_054175219.1  katanin p60 ATPase-containing subunit A-like 2 isoform X2

  9. XM_054319252.1 → XP_054175227.1  katanin p60 ATPase-containing subunit A-like 2 isoform X9

    UniProtKB/TrEMBL
    K7EIJ8

  10. XM_054319251.1 → XP_054175226.1  katanin p60 ATPase-containing subunit A-like 2 isoform X9

    UniProtKB/TrEMBL
    K7EIJ8
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYT4.3 GenPept UniProtKB/Swiss-Prot:Q8IYT4

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