Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	83473
Gene name	Katanin catalytic subunit A1 like 2
Gene symbol	KATNAL2
Synonyms (NCBI Gene)	-
Chromosome	18
Chromosome location	18q21.1

Show/Hide all (36)

miRTarBase ID	miRNA	Experiments
MIRT1079191	hsa-miR-1206	CLIP-seq
MIRT1079192	hsa-miR-1207-3p	CLIP-seq
MIRT1079193	hsa-miR-1276	CLIP-seq
MIRT1079194	hsa-miR-1285	CLIP-seq
MIRT1079195	hsa-miR-1289	CLIP-seq
MIRT1079196	hsa-miR-203	CLIP-seq
MIRT1079197	hsa-miR-3154	CLIP-seq
MIRT1079198	hsa-miR-3187-5p	CLIP-seq
MIRT1079199	hsa-miR-3198	CLIP-seq
MIRT1079200	hsa-miR-34a	CLIP-seq
MIRT1079201	hsa-miR-34c-5p	CLIP-seq
MIRT1079202	hsa-miR-3647-3p	CLIP-seq
MIRT1079203	hsa-miR-3688-3p	CLIP-seq
MIRT1079204	hsa-miR-3978	CLIP-seq
MIRT1079205	hsa-miR-4282	CLIP-seq
MIRT1079206	hsa-miR-4294	CLIP-seq
MIRT1079207	hsa-miR-4309	CLIP-seq
MIRT1079208	hsa-miR-4311	CLIP-seq
MIRT1079209	hsa-miR-4435	CLIP-seq
MIRT1079210	hsa-miR-4436b-3p	CLIP-seq
MIRT1079211	hsa-miR-4474-3p	CLIP-seq
MIRT1079212	hsa-miR-449a	CLIP-seq
MIRT1079213	hsa-miR-449b	CLIP-seq
MIRT1079214	hsa-miR-4735-5p	CLIP-seq
MIRT1079215	hsa-miR-4802-5p	CLIP-seq
MIRT1079216	hsa-miR-515-3p	CLIP-seq
MIRT1079217	hsa-miR-519e	CLIP-seq
MIRT1079218	hsa-miR-548c-3p	CLIP-seq
MIRT1079219	hsa-miR-550a	CLIP-seq
MIRT1079220	hsa-miR-583	CLIP-seq
MIRT1079221	hsa-miR-587	CLIP-seq
MIRT1079222	hsa-miR-590-3p	CLIP-seq
MIRT1079223	hsa-miR-612	CLIP-seq
MIRT1079224	hsa-miR-663b	CLIP-seq
MIRT2251638	hsa-miR-4775	CLIP-seq
MIRT1079222	hsa-miR-590-3p	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000212	Process	Meiotic spindle organization	IBA
GO:0000922	Component	Spindle pole	IDA	26929214
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	25910212, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	26929214
GO:0005737	Component	Cytoplasm	IEA
GO:0005819	Component	Spindle	IBA
GO:0005819	Component	Spindle	IDA	26929214
GO:0005819	Component	Spindle	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	26929214
GO:0005874	Component	Microtubule	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0008352	Component	Katanin complex	ISS
GO:0008568	Function	Microtubule severing ATPase activity	IEA
GO:0015630	Component	Microtubule cytoskeleton	NAS	28436967
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0031122	Process	Cytoplasmic microtubule organization	NAS	28436967
GO:0051013	Process	Microtubule severing	IBA
GO:0051013	Process	Microtubule severing	IEA

MIM	HGNC	e!Ensembl
614697	25387	ENSG00000167216

Q8IYT4

Protein name

Katanin p60 ATPase-containing subunit A-like 2 (Katanin p60 subunit A-like 2) (EC 5.6.1.1) (p60 katanin-like 2)

Protein function

Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08513	LisH	27 → 53	LisH	Domain
PF00004	AAA	290 → 422	ATPase family associated with various cellular activities (AAA)	Domain
PF17862	AAA_lid_3	450 → 497	AAA+ lid domain	Domain

Sequence

MELSYQTLKFTHQAREACEMRTEARRKNLLILISHYLTQEGYIDTANALEQETKLGLRRF
EVCDNIDLETILMEYESYYFVKFQKYPKIVKKSSDTAENNLPQRSRGKTRRMMNDSCQNL
PKINQQRPRSKTTAGKTGDTKSLNKEHPNQEVVDNTRLESANFGLHISRIRKDSGEENAH
PRRGQIIDFQGLLTDAIKGATSELALNTFDHNPDPSERLLKPLSAFIGMNSEMRELAAVV
SRDIYLHNPNIKWNDIIGLDAAKQLVKEAVVYPIRYPQLFTGILSPWKGLLLYGPPGTGK
TLLAKAVATECKTTFFNISASTIVSKWRGDSEKLVRVLFELARYHAPSTIFLDELESVMS
QRGTASGGEHEGSLRMKTELLVQMDGLARSEDLVFVLAASNLPWELDCAMLRRLEKRILV
DLPSREARQAMIYHWLPPVSKSRALELHTELEYSVLSQETEGYSGSDIKLVCREAAMRPV
RKIFDALENHQSESSDLPRIQLDIVTTADFLDVLTHTKPSAKNLAQRYSDWQREFESV

Sequence length

538

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KATNAL2-related autism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KATNAL2-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autism Spectrum Disorder	Autism	Pubtator	22495311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30096282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22495311, 30096282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22495311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23018867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33482905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	23018867	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	28191889		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	22929029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

KATNAL2 (katanin catalytic subunit A1 like 2)