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

Summary

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 ATP hydrolysis activity. Predicted to be involved in microtubule severing. Located in cytoplasm; microtubule; and spindle pole. [provided by Alliance of Genome Resources, Oct 2024]
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

Location:: 18q21.1

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (46917594..47102243)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (47108258..47292540)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (44497557..44628614)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
KATNAL2 methylation correlates with severity of cervical intraepithelial neoplasia
Title: Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57953 (e-PCR)
- UniSTS:16903

SHGC-78100 (e-PCR)
- UniSTS:101673

RH123113 (e-PCR)
- UniSTS:135494

RH103061 (e-PCR)
- UniSTS:97395

D18S1356 (e-PCR)
- UniSTS:12919

RH103411 (e-PCR)
- UniSTS:97736

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 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

EC 5.6.1.1

NP_001340829.1

EC 5.6.1.1

NP_001340830.1

EC 5.6.1.1

NP_001340831.1

EC 5.6.1.1

NP_001340832.1

EC 5.6.1.1

NP_001340833.1

EC 5.6.1.1

NP_001340834.1

EC 5.6.1.1

NP_001340835.1

EC 5.6.1.1

NP_001340836.1

EC 5.6.1.1

NP_001340837.1

EC 5.6.1.1

NP_001340838.1

EC 5.6.1.1

NP_001354550.1

EC 5.6.1.1

NP_001374619.1

EC 5.6.1.1

NP_112593.2

EC 5.6.1.1

XP_005258418.1

EC 5.6.1.1

XP_011524521.1

EC 5.6.1.1

XP_011524522.1

EC 5.6.1.1

XP_011524523.1

EC 5.6.1.1

XP_011524525.1

EC 5.6.1.1

XP_016881520.1

EC 5.6.1.1

XP_047293833.1

EC 5.6.1.1

XP_047293834.1

EC 5.6.1.1

XP_047293835.1

EC 5.6.1.1

XP_047293836.1

EC 5.6.1.1

XP_054175218.1

EC 5.6.1.1

XP_054175219.1

EC 5.6.1.1

XP_054175220.1

EC 5.6.1.1

XP_054175221.1

EC 5.6.1.1

XP_054175222.1

EC 5.6.1.1

XP_054175223.1

EC 5.6.1.1

XP_054175224.1

EC 5.6.1.1

XP_054175225.1

EC 5.6.1.1

XP_054175226.1

EC 5.6.1.1

XP_054175227.1

EC 5.6.1.1

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)

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]
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]
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]
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]
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]
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]
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]
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]
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]
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]
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]
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
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
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

NR_148563.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC012254, AC090373, CA311572

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

NC_000018.10 Reference GRCh38.p14 Primary Assembly

Range

46917594..47102243

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047437879.1 → XP_047293835.1 katanin p60 ATPase-containing subunit A-like 2 isoform X5
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)
XM_047437880.1 → XP_047293836.1 katanin p60 ATPase-containing subunit A-like 2 isoform X6
XM_047437878.1 → XP_047293834.1 katanin p60 ATPase-containing subunit A-like 2 isoform X4
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)
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)
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)
XM_047437877.1 → XP_047293833.1 katanin p60 ATPase-containing subunit A-like 2 isoform X2
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]
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

NC_060942.1 Alternate T2T-CHM13v2.0

Range

47108258..47292540

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054319247.1 → XP_054175222.1 katanin p60 ATPase-containing subunit A-like 2 isoform X5
XM_054319245.1 → XP_054175220.1 katanin p60 ATPase-containing subunit A-like 2 isoform X3
XM_054319248.1 → XP_054175223.1 katanin p60 ATPase-containing subunit A-like 2 isoform X6
XM_054319246.1 → XP_054175221.1 katanin p60 ATPase-containing subunit A-like 2 isoform X4
XM_054319249.1 → XP_054175224.1 katanin p60 ATPase-containing subunit A-like 2 isoform X7
XM_054319250.1 → XP_054175225.1 katanin p60 ATPase-containing subunit A-like 2 isoform X8
XM_054319243.1 → XP_054175218.1 katanin p60 ATPase-containing subunit A-like 2 isoform X1
XM_054319244.1 → XP_054175219.1 katanin p60 ATPase-containing subunit A-like 2 isoform X2
XM_054319252.1 → XP_054175227.1 katanin p60 ATPase-containing subunit A-like 2 isoform X9

UniProtKB/TrEMBL

K7EIJ8
XM_054319251.1 → XP_054175226.1 katanin p60 ATPase-containing subunit A-like 2 isoform X9

UniProtKB/TrEMBL

K7EIJ8