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	200942
Gene name	Kelch domain containing 8B
Gene symbol	KLHDC8B
Synonyms (NCBI Gene)	CHL
Chromosome	3
Chromosome location	3p21.31
Summary	This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906223	C>T	Pathogenic	5 prime UTR variant

179

Show/Hide all (179)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019701	hsa-miR-375	Microarray	20215506
MIRT474507	hsa-miR-196a-5p	PAR-CLIP	23592263
MIRT474506	hsa-miR-196b-5p	PAR-CLIP	23592263
MIRT474505	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT474504	hsa-miR-4500	PAR-CLIP	23592263
MIRT474503	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT474502	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT474501	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT474500	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT474499	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT474498	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT474497	hsa-miR-4458	PAR-CLIP	23592263
MIRT474496	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT474495	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT474494	hsa-miR-6856-3p	PAR-CLIP	23592263
MIRT474492	hsa-miR-6779-3p	PAR-CLIP	23592263
MIRT474493	hsa-miR-4476	PAR-CLIP	23592263
MIRT474491	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT474490	hsa-miR-6841-5p	PAR-CLIP	23592263
MIRT474489	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT474488	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT474487	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT474486	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT474485	hsa-miR-202-3p	PAR-CLIP	23592263
MIRT474484	hsa-miR-146b-3p	PAR-CLIP	23592263
MIRT474483	hsa-miR-8065	PAR-CLIP	23592263
MIRT474481	hsa-miR-4316	PAR-CLIP	23592263
MIRT474482	hsa-miR-1294	PAR-CLIP	23592263
MIRT474507	hsa-miR-196a-5p	PAR-CLIP	23592263
MIRT474506	hsa-miR-196b-5p	PAR-CLIP	23592263
MIRT474505	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT474504	hsa-miR-4500	PAR-CLIP	23592263
MIRT474503	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT474502	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT474501	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT474500	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT474499	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT474498	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT474497	hsa-miR-4458	PAR-CLIP	23592263
MIRT474496	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT474495	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT474494	hsa-miR-6856-3p	PAR-CLIP	23592263
MIRT474492	hsa-miR-6779-3p	PAR-CLIP	23592263
MIRT474493	hsa-miR-4476	PAR-CLIP	23592263
MIRT474491	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT474490	hsa-miR-6841-5p	PAR-CLIP	23592263
MIRT474489	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT474488	hsa-miR-3927-3p	PAR-CLIP	23592263
MIRT474487	hsa-miR-6831-5p	PAR-CLIP	23592263
MIRT474486	hsa-miR-4677-3p	PAR-CLIP	23592263
MIRT474485	hsa-miR-202-3p	PAR-CLIP	23592263
MIRT474484	hsa-miR-146b-3p	PAR-CLIP	23592263
MIRT474483	hsa-miR-8065	PAR-CLIP	23592263
MIRT474481	hsa-miR-4316	PAR-CLIP	23592263
MIRT474482	hsa-miR-1294	PAR-CLIP	23592263
MIRT1097434	hsa-let-7a	CLIP-seq
MIRT1097435	hsa-let-7b	CLIP-seq
MIRT1097436	hsa-let-7c	CLIP-seq
MIRT1097437	hsa-let-7d	CLIP-seq
MIRT1097438	hsa-let-7e	CLIP-seq
MIRT1097439	hsa-let-7f	CLIP-seq
MIRT1097440	hsa-let-7g	CLIP-seq
MIRT1097441	hsa-let-7i	CLIP-seq
MIRT1097442	hsa-miR-15a	CLIP-seq
MIRT1097443	hsa-miR-15b	CLIP-seq
MIRT1097444	hsa-miR-16	CLIP-seq
MIRT1097445	hsa-miR-195	CLIP-seq
MIRT1097446	hsa-miR-196a	CLIP-seq
MIRT1097447	hsa-miR-196b	CLIP-seq
MIRT1097448	hsa-miR-202	CLIP-seq
MIRT1097449	hsa-miR-3164	CLIP-seq
MIRT1097450	hsa-miR-3616-5p	CLIP-seq
MIRT1097451	hsa-miR-3647-5p	CLIP-seq
MIRT1097452	hsa-miR-3682-5p	CLIP-seq
MIRT1097453	hsa-miR-3692	CLIP-seq
MIRT1097454	hsa-miR-3927	CLIP-seq
MIRT1097455	hsa-miR-424	CLIP-seq
MIRT1097456	hsa-miR-4464	CLIP-seq
MIRT1097457	hsa-miR-4524	CLIP-seq
MIRT1097458	hsa-miR-4748	CLIP-seq
MIRT1097459	hsa-miR-4795-5p	CLIP-seq
MIRT1097460	hsa-miR-497	CLIP-seq
MIRT1097461	hsa-miR-503	CLIP-seq
MIRT1097462	hsa-miR-573	CLIP-seq
MIRT1097463	hsa-miR-646	CLIP-seq
MIRT1097464	hsa-miR-98	CLIP-seq
MIRT1097442	hsa-miR-15a	CLIP-seq
MIRT1097443	hsa-miR-15b	CLIP-seq
MIRT1097444	hsa-miR-16	CLIP-seq
MIRT1097445	hsa-miR-195	CLIP-seq
MIRT1097452	hsa-miR-3682-5p	CLIP-seq
MIRT1097453	hsa-miR-3692	CLIP-seq
MIRT1097455	hsa-miR-424	CLIP-seq
MIRT1097457	hsa-miR-4524	CLIP-seq
MIRT1097460	hsa-miR-497	CLIP-seq
MIRT1097461	hsa-miR-503	CLIP-seq
MIRT1097463	hsa-miR-646	CLIP-seq
MIRT1097442	hsa-miR-15a	CLIP-seq
MIRT1097443	hsa-miR-15b	CLIP-seq
MIRT1097444	hsa-miR-16	CLIP-seq
MIRT2257540	hsa-miR-1827	CLIP-seq
MIRT1097445	hsa-miR-195	CLIP-seq
MIRT1097449	hsa-miR-3164	CLIP-seq
MIRT1097450	hsa-miR-3616-5p	CLIP-seq
MIRT1097451	hsa-miR-3647-5p	CLIP-seq
MIRT1097452	hsa-miR-3682-5p	CLIP-seq
MIRT2257541	hsa-miR-3974	CLIP-seq
MIRT1097455	hsa-miR-424	CLIP-seq
MIRT2257542	hsa-miR-4280	CLIP-seq
MIRT1097456	hsa-miR-4464	CLIP-seq
MIRT2257543	hsa-miR-4519	CLIP-seq
MIRT1097457	hsa-miR-4524	CLIP-seq
MIRT2257544	hsa-miR-4530	CLIP-seq
MIRT1097458	hsa-miR-4748	CLIP-seq
MIRT1097459	hsa-miR-4795-5p	CLIP-seq
MIRT2257545	hsa-miR-485-3p	CLIP-seq
MIRT1097460	hsa-miR-497	CLIP-seq
MIRT1097461	hsa-miR-503	CLIP-seq
MIRT1097462	hsa-miR-573	CLIP-seq
MIRT2257546	hsa-miR-634	CLIP-seq
MIRT1097463	hsa-miR-646	CLIP-seq
MIRT1097434	hsa-let-7a	CLIP-seq
MIRT1097435	hsa-let-7b	CLIP-seq
MIRT1097436	hsa-let-7c	CLIP-seq
MIRT1097437	hsa-let-7d	CLIP-seq
MIRT1097438	hsa-let-7e	CLIP-seq
MIRT1097439	hsa-let-7f	CLIP-seq
MIRT1097440	hsa-let-7g	CLIP-seq
MIRT1097441	hsa-let-7i	CLIP-seq
MIRT1097446	hsa-miR-196a	CLIP-seq
MIRT1097447	hsa-miR-196b	CLIP-seq
MIRT1097448	hsa-miR-202	CLIP-seq
MIRT1097453	hsa-miR-3692	CLIP-seq
MIRT2438240	hsa-miR-3919	CLIP-seq
MIRT1097454	hsa-miR-3927	CLIP-seq
MIRT2438241	hsa-miR-3942-3p	CLIP-seq
MIRT2438242	hsa-miR-4292	CLIP-seq
MIRT2438243	hsa-miR-4308	CLIP-seq
MIRT2438244	hsa-miR-4729	CLIP-seq
MIRT2438245	hsa-miR-4756-3p	CLIP-seq
MIRT1097464	hsa-miR-98	CLIP-seq
MIRT2558667	hsa-miR-1193	CLIP-seq
MIRT2558668	hsa-miR-1915	CLIP-seq
MIRT2558669	hsa-miR-2392	CLIP-seq
MIRT2558670	hsa-miR-3202	CLIP-seq
MIRT2558671	hsa-miR-325	CLIP-seq
MIRT2558672	hsa-miR-3977	CLIP-seq
MIRT2558673	hsa-miR-433	CLIP-seq
MIRT2558674	hsa-miR-4493	CLIP-seq
MIRT2558675	hsa-miR-4533	CLIP-seq
MIRT2558676	hsa-miR-4534	CLIP-seq
MIRT2558677	hsa-miR-4633-3p	CLIP-seq
MIRT2558678	hsa-miR-4685-5p	CLIP-seq
MIRT2558679	hsa-miR-4709-3p	CLIP-seq
MIRT2558680	hsa-miR-4713-5p	CLIP-seq
MIRT2558681	hsa-miR-4725-5p	CLIP-seq
MIRT2558682	hsa-miR-4726-3p	CLIP-seq
MIRT2558683	hsa-miR-4790-3p	CLIP-seq
MIRT2558684	hsa-miR-504	CLIP-seq
MIRT2558685	hsa-miR-548m	CLIP-seq
MIRT2558667	hsa-miR-1193	CLIP-seq
MIRT2558668	hsa-miR-1915	CLIP-seq
MIRT2558669	hsa-miR-2392	CLIP-seq
MIRT2558670	hsa-miR-3202	CLIP-seq
MIRT2558671	hsa-miR-325	CLIP-seq
MIRT2558672	hsa-miR-3977	CLIP-seq
MIRT2558673	hsa-miR-433	CLIP-seq
MIRT2558674	hsa-miR-4493	CLIP-seq
MIRT2558675	hsa-miR-4533	CLIP-seq
MIRT2558676	hsa-miR-4534	CLIP-seq
MIRT2558677	hsa-miR-4633-3p	CLIP-seq
MIRT2558678	hsa-miR-4685-5p	CLIP-seq
MIRT2558679	hsa-miR-4709-3p	CLIP-seq
MIRT2558680	hsa-miR-4713-5p	CLIP-seq
MIRT2558681	hsa-miR-4725-5p	CLIP-seq
MIRT2558682	hsa-miR-4726-3p	CLIP-seq
MIRT2558683	hsa-miR-4790-3p	CLIP-seq
MIRT2558684	hsa-miR-504	CLIP-seq
MIRT2558685	hsa-miR-548m	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IDA	20107318
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IDA	20107318
GO:0030496	Component	Midbody	IEA
GO:0045171	Component	Intercellular bridge	IBA
GO:0045171	Component	Intercellular bridge	IDA	20107318
GO:0051301	Process	Cell division	IEA
GO:0098813	Process	Nuclear chromosome segregation	IBA
GO:0098813	Process	Nuclear chromosome segregation	IMP	22988245, 23713010
GO:0110070	Component	Cellularization cleavage furrow	IBA
GO:0110070	Component	Cellularization cleavage furrow	IDA	20107318
GO:0140014	Process	Mitotic nuclear division	IBA
GO:0140014	Process	Mitotic nuclear division	IMP	20107318, 22988245, 23713010
GO:1902410	Process	Mitotic cytokinetic process	IBA
GO:1902410	Process	Mitotic cytokinetic process	IMP	20107318, 22988245, 23713010

MIM	HGNC	e!Ensembl
613169	28557	ENSG00000185909

Q8IXV7

Protein name

Kelch domain-containing protein 8B

Protein function

Involved in pinching off the separated nuclei at the cleavage furrow and in cytokinesis (PubMed:20107318). Required for mitotic integrity and maintenance of chromosomal stability. Protects cells against mitotic errors, centrosomal amplification,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01344	Kelch_1	20 → 66	Kelch motif	Repeat
PF01344	Kelch_1	68 → 114	Kelch motif	Repeat
PF01344	Kelch_1	164 → 209	Kelch motif	Repeat
PF01344	Kelch_1	270 → 316	Kelch motif	Repeat

Sequence

MSAGGGRAFAWQVFPPMPTCRVYGTVAHQDGHLLVLGGCGRAGLPLDTAETLDMASHTWL
ALAPLPTARAGAAAVVLGKQVLVVGGVDEVQSPVAAVEAFLMDEGRWERRATLPQAAMGV
ATVERDGMVYALGGMGPDTAPQAQVRVYEPRRDCWLSLPSMPTPCYGASTFLHGNKIYVL
GGRQGKLPVTAFEAFDLEARTWTRHPSLPSRRAFAGCAMAEGSVFSLGGLQQPGPHNFYS
RPHFVNTVEMFDLEHGSWTKLPRSLRMRDKRADFVVGSLGGHIVAIGGLGNQPCPLGSVE
SFSLARRRWEALPAMPTARCSCSSLQAGPRLFVIGGVAQGPSQAVEALCLRDGV

Sequence length

354

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 (13)

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.
BEHCET'S SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classic Hodgkin lymphoma	Likely benign	ClinVar ClinVar, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CLASSIC HODGKIN LYMPHOMA, NODULAR SCLEROSIS TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKIN DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLHDC8B-related disorder	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	28380678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	29380399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	22988245	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Classic Hodgkin lymphoma, nodular sclerosis type	Hodgkin Lymphoma	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	BEFREE	27951416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	28380678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	18641027, 20107318, 22988245, 35977101	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin Disease	BEFREE	29380399		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin Disease	Hodgkin Disease	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hodgkin lymphoma, lymphocyte depletion	Hodgkin Lymphoma, Lymphocyte Depletion	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	27951416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphocyte Rich Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	19706467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	28380678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31808475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19706467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	29402844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mixed Cellularity Hodgkin Lymphoma	Classical Hodgkin lymphoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29380399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Classical Hodgkin lymphoma	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	ORPHANET_DG	19706467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31808475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	28167003		★★★★★ ★☆☆☆☆ Found in Text Mining only

KLHDC8B (kelch domain containing 8B)