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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10300
Gene name	Katanin regulatory subunit B1
Gene symbol	KATNB1
Synonyms (NCBI Gene)	KATLIS6
Chromosome	16
Chromosome location	16q21
Summary	Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs730880257	C>T	Pathogenic	Missense variant, coding sequence variant
rs730880258	T>G	Pathogenic	Missense variant, coding sequence variant
rs730880259	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs879255517	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs879255519	G>A	Pathogenic	Splice donor variant

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051547	hsa-let-7e-5p	CLASH	23622248
MIRT050360	hsa-miR-25-3p	CLASH	23622248
MIRT043768	hsa-miR-328-3p	CLASH	23622248
MIRT1079225	hsa-miR-15a	CLIP-seq
MIRT1079226	hsa-miR-15b	CLIP-seq
MIRT1079227	hsa-miR-16	CLIP-seq
MIRT1079228	hsa-miR-195	CLIP-seq
MIRT1079229	hsa-miR-3120-3p	CLIP-seq
MIRT1079230	hsa-miR-340	CLIP-seq
MIRT1079231	hsa-miR-424	CLIP-seq
MIRT1079232	hsa-miR-4323	CLIP-seq
MIRT1079233	hsa-miR-497	CLIP-seq
MIRT2019726	hsa-miR-137	CLIP-seq
MIRT1079225	hsa-miR-15a	CLIP-seq
MIRT1079226	hsa-miR-15b	CLIP-seq
MIRT1079227	hsa-miR-16	CLIP-seq
MIRT1079228	hsa-miR-195	CLIP-seq
MIRT1079231	hsa-miR-424	CLIP-seq
MIRT1079233	hsa-miR-497	CLIP-seq
MIRT2554910	hsa-miR-1291	CLIP-seq
MIRT2554911	hsa-miR-146b-3p	CLIP-seq
MIRT2554912	hsa-miR-1587	CLIP-seq
MIRT1079225	hsa-miR-15a	CLIP-seq
MIRT1079226	hsa-miR-15b	CLIP-seq
MIRT1079227	hsa-miR-16	CLIP-seq
MIRT2554913	hsa-miR-1909	CLIP-seq
MIRT1079228	hsa-miR-195	CLIP-seq
MIRT2554914	hsa-miR-214	CLIP-seq
MIRT2554915	hsa-miR-2467-3p	CLIP-seq
MIRT2554916	hsa-miR-2467-5p	CLIP-seq
MIRT2554917	hsa-miR-3619-5p	CLIP-seq
MIRT1079231	hsa-miR-424	CLIP-seq
MIRT2554918	hsa-miR-4265	CLIP-seq
MIRT2554919	hsa-miR-4296	CLIP-seq
MIRT2554920	hsa-miR-4322	CLIP-seq
MIRT2554921	hsa-miR-4417	CLIP-seq
MIRT2554922	hsa-miR-4433	CLIP-seq
MIRT2554923	hsa-miR-4436a	CLIP-seq
MIRT2554924	hsa-miR-4447	CLIP-seq
MIRT2554925	hsa-miR-4457	CLIP-seq
MIRT2554926	hsa-miR-4472	CLIP-seq
MIRT2554927	hsa-miR-4481	CLIP-seq
MIRT2554928	hsa-miR-4488	CLIP-seq
MIRT2554929	hsa-miR-4492	CLIP-seq
MIRT2554930	hsa-miR-4498	CLIP-seq
MIRT2554931	hsa-miR-4514	CLIP-seq
MIRT2554932	hsa-miR-4640-5p	CLIP-seq
MIRT2554933	hsa-miR-4645-5p	CLIP-seq
MIRT2554934	hsa-miR-4649-3p	CLIP-seq
MIRT2554935	hsa-miR-4656	CLIP-seq
MIRT2554936	hsa-miR-4673	CLIP-seq
MIRT2554937	hsa-miR-4675	CLIP-seq
MIRT2554938	hsa-miR-4692	CLIP-seq
MIRT2554939	hsa-miR-4697-5p	CLIP-seq
MIRT2554940	hsa-miR-4700-3p	CLIP-seq
MIRT2554941	hsa-miR-4726-5p	CLIP-seq
MIRT2554942	hsa-miR-4741	CLIP-seq
MIRT2554943	hsa-miR-4745-5p	CLIP-seq
MIRT2554944	hsa-miR-4755-3p	CLIP-seq
MIRT1079233	hsa-miR-497	CLIP-seq
MIRT2554945	hsa-miR-761	CLIP-seq
MIRT2554946	hsa-miR-762	CLIP-seq
MIRT2554910	hsa-miR-1291	CLIP-seq
MIRT2554911	hsa-miR-146b-3p	CLIP-seq
MIRT2554912	hsa-miR-1587	CLIP-seq
MIRT1079225	hsa-miR-15a	CLIP-seq
MIRT1079226	hsa-miR-15b	CLIP-seq
MIRT1079227	hsa-miR-16	CLIP-seq
MIRT2554913	hsa-miR-1909	CLIP-seq
MIRT1079228	hsa-miR-195	CLIP-seq
MIRT2554914	hsa-miR-214	CLIP-seq
MIRT2554915	hsa-miR-2467-3p	CLIP-seq
MIRT2554916	hsa-miR-2467-5p	CLIP-seq
MIRT2554917	hsa-miR-3619-5p	CLIP-seq
MIRT1079231	hsa-miR-424	CLIP-seq
MIRT2554918	hsa-miR-4265	CLIP-seq
MIRT2554919	hsa-miR-4296	CLIP-seq
MIRT2554920	hsa-miR-4322	CLIP-seq
MIRT2554921	hsa-miR-4417	CLIP-seq
MIRT2554922	hsa-miR-4433	CLIP-seq
MIRT2554923	hsa-miR-4436a	CLIP-seq
MIRT2554924	hsa-miR-4447	CLIP-seq
MIRT2554925	hsa-miR-4457	CLIP-seq
MIRT2554926	hsa-miR-4472	CLIP-seq
MIRT2554927	hsa-miR-4481	CLIP-seq
MIRT2554928	hsa-miR-4488	CLIP-seq
MIRT2554929	hsa-miR-4492	CLIP-seq
MIRT2554930	hsa-miR-4498	CLIP-seq
MIRT2554931	hsa-miR-4514	CLIP-seq
MIRT2554932	hsa-miR-4640-5p	CLIP-seq
MIRT2554933	hsa-miR-4645-5p	CLIP-seq
MIRT2554934	hsa-miR-4649-3p	CLIP-seq
MIRT2554935	hsa-miR-4656	CLIP-seq
MIRT2554936	hsa-miR-4673	CLIP-seq
MIRT2554937	hsa-miR-4675	CLIP-seq
MIRT2554938	hsa-miR-4692	CLIP-seq
MIRT2554939	hsa-miR-4697-5p	CLIP-seq
MIRT2554940	hsa-miR-4700-3p	CLIP-seq
MIRT2554941	hsa-miR-4726-5p	CLIP-seq
MIRT2554942	hsa-miR-4741	CLIP-seq
MIRT2554943	hsa-miR-4745-5p	CLIP-seq
MIRT2554944	hsa-miR-4755-3p	CLIP-seq
MIRT1079233	hsa-miR-497	CLIP-seq
MIRT2554945	hsa-miR-761	CLIP-seq
MIRT2554946	hsa-miR-762	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000922	Component	Spindle pole	IDA	10751153, 26929214
GO:0000922	Component	Spindle pole	IEA
GO:0005515	Function	Protein binding	IPI	24486153, 26496610, 26929214, 28514442, 32814053, 33961781
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IDA	10751153, 26929214
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005819	Component	Spindle	IDA	26929214
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	26929214
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0006605	Process	Protein targeting	NAS	10751153
GO:0007019	Process	Microtubule depolymerization	IBA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IMP	10751153
GO:0007079	Process	Mitotic chromosome movement towards spindle pole	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	NAS	10751153
GO:0008352	Component	Katanin complex	IBA
GO:0008352	Component	Katanin complex	IDA	9568719
GO:0008352	Component	Katanin complex	IEA
GO:0008352	Component	Katanin complex	IPI	26929214
GO:0008352	Component	Katanin complex	ISS
GO:0008352	Component	Katanin complex	TAS	10751153
GO:0010976	Process	Positive regulation of neuron projection development	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	NAS	28436967
GO:0016020	Component	Membrane	HDA	19946888
GO:0030424	Component	Axon	IEA
GO:0030426	Component	Growth cone	IEA
GO:0030496	Component	Midbody	IEA
GO:0031117	Process	Positive regulation of microtubule depolymerization	IEA
GO:0031117	Process	Positive regulation of microtubule depolymerization	IMP	10751153
GO:0031122	Process	Cytoplasmic microtubule organization	NAS	28436967
GO:0043025	Component	Neuronal cell body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	10751153
GO:0051013	Process	Microtubule severing	IEA
GO:0051301	Process	Cell division	IEA
GO:0060590	Function	ATPase regulator activity	IDA	10751153
GO:0070840	Function	Dynein complex binding	IEA

MIM	HGNC	e!Ensembl
602703	6217	ENSG00000140854

Q9BVA0

Protein name

Katanin p80 WD40 repeat-containing subunit B1 (Katanin p80 subunit B1) (p80 katanin)

Protein function

Participates in a complex which severs microtubules in an ATP-dependent manner. May act to target the enzymatic subunit of this complex to sites of action such as the centrosome. Microtubule severing may promote rapid reorganization of cellular

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	10 → 49	WD domain, G-beta repeat	Repeat
PF00400	WD40	53 → 91	WD domain, G-beta repeat	Repeat
PF00400	WD40	95 → 133	WD domain, G-beta repeat	Repeat
PF00400	WD40	137 → 175	WD domain, G-beta repeat	Repeat
PF00400	WD40	179 → 217	WD domain, G-beta repeat	Repeat
PF13925	Katanin_con80	493 → 651	con80 domain of Katanin	Domain

Sequence

MATPVVTKTAWKLQEIVAHASNVSSLVLGKASGRLLATGGDDCRVNLWSINKPNCIMSLT
GHTSPVESVRLNTPEELIVAGSQSGSIRVWDLEAAKILRTLMGHKANICSLDFHPYGEFV
ASGSQDTNIKLWDIRRKGCVFRYRGHSQAVRCLRFSPDGKWLASAADDHTVKLWDLTAGK
MMSEFPGHTGPVNVVEFHPNEYLLASGSSDRTIRFWDLEKFQVVSCIEGEPGPVRSVLFN
PDGCCLYSGCQDSLRVYGWEPERCFDVVLVNWGKVADLAICNDQLIGVAFSQSNVSSYVV
DLTRVTRTGTVARDPVQDHRPLAQPLPNPSAPLRRIYERPSTTCSKPQRVKQNSESERRS
PSSEDDRDERESRAEIQNAEDYNEIFQPKNSISRTPPRRSEPFPAPPEDDAATAKEAAKP
SPAMDVQFPVPNLEVLPRPPVVASTPAPKAEPAIIPATRNEPIGLKASDFLPAVKIPQQA
ELVDEDAMSQIRKGHDTMCVVLTSRHKNLDTVRAVWTMGDIKTSVDSAVAINDLSVVVDL
LNIVNQKASLWKLDLCTTVLPQIEKLLQSKYESYVQTGCTSLKLILQRFLPLITDMLAAP
PSVGVDISREERLHKCRLCYKQLKSISGLVKSKSGLSGRHGSTFRELHLLMASLD

Sequence length

655

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 Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Likely pathogenic	rs376558334	RCV005922464	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KATNB1-related disorder	Likely pathogenic	rs376558334, rs2506910748	RCV003401713 RCV003393185	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly 6 with microcephaly	Likely pathogenic; Pathogenic	rs376558334, rs730880257, rs730880258, rs879255517, rs879255518, rs730880259, rs879255519	RCV001782327 RCV000157597 RCV000157598 RCV000157599 RCV000157600 RCV000157601 RCV000157602 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

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	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROLISSENCEPHALY	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	23894477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	19825993, 9177396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26767057	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	9177396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29632619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	26640080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28791777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital microcephaly	Congenital Microcephaly	BEFREE	26640080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Cerebral Sclerosis of Schilder	Schilder disease	Pubtator	31484711	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	26640080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	9177396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	BEFREE	25521379		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	27485472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	28079116		★★★★★ ★☆☆☆☆ Found in Text Mining only
LISSENCEPHALY 6 WITH MICROCEPHALY	Lissencephaly with microcephaly	GENOMICS_ENGLAND_DG	25521378, 26640080		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LISSENCEPHALY 6 WITH MICROCEPHALY	Lissencephaly with microcephaly	UNIPROT_DG	25521378, 25521379		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LISSENCEPHALY 6 WITH MICROCEPHALY	Lissencephaly with microcephaly	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LISSENCEPHALY 6 WITH MICROCEPHALY	Lissencephaly with microcephaly	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung Diseases	Lung disease	Pubtator	36934373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36934373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	25521378		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12817473, 17351128, 27528742		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29632619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25521378, 26640080, 28079116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	34202629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microlissencephaly	Microlissencephaly	ORPHANET_DG	25521378, 25521379		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microlissencephaly	Microlissencephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	17351128		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	25280067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	23894477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Partial Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PITUITARY DWARFISM I	Pituitary dwarfism	BEFREE	26640080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	30940904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	9177396		★★★★★ ★☆☆☆☆ Found in Text Mining only

KATNB1 (katanin regulatory subunit B1)