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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	390594
Gene name Gene Name - the full gene name approved by the HGNC.	Kelch repeat and BTB domain containing 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KBTBD13
Synonyms (NCBI Gene) Gene synonyms aliases	HCG1645727, NEM6
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q22.31
Summary Summary of gene provided in NCBI Entrez Gene.	The gene belongs to a family of genes encoding proteins containing a BTB domain and several kelch repeats. The BTB domain functions as a protein-protein interaction module, which includes an ability to self-associate or to interact with non-BTB domain-con

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miRTarBase ID	miRNA	Experiments	Reference
MIRT709033	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT709032	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT709031	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT709030	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT709029	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT709028	hsa-miR-8064	HITS-CLIP	19536157
MIRT709027	hsa-miR-1299	HITS-CLIP	19536157
MIRT709026	hsa-miR-516b-5p	HITS-CLIP	19536157
MIRT709025	hsa-miR-4782-5p	HITS-CLIP	19536157
MIRT709024	hsa-miR-5706	HITS-CLIP	19536157
MIRT709023	hsa-miR-507	HITS-CLIP	19536157
MIRT709022	hsa-miR-557	HITS-CLIP	19536157
MIRT709033	hsa-miR-4639-3p	HITS-CLIP	19536157
MIRT709032	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT709031	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT709030	hsa-miR-4778-3p	HITS-CLIP	19536157
MIRT709029	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT709028	hsa-miR-8064	HITS-CLIP	19536157
MIRT709027	hsa-miR-1299	HITS-CLIP	19536157
MIRT709026	hsa-miR-516b-5p	HITS-CLIP	19536157
MIRT709025	hsa-miR-4782-5p	HITS-CLIP	19536157
MIRT709024	hsa-miR-5706	HITS-CLIP	19536157
MIRT709023	hsa-miR-507	HITS-CLIP	19536157
MIRT709022	hsa-miR-557	HITS-CLIP	19536157
MIRT1079500	hsa-miR-101	CLIP-seq
MIRT1079501	hsa-miR-125a-5p	CLIP-seq
MIRT1079502	hsa-miR-125b	CLIP-seq
MIRT1079503	hsa-miR-144	CLIP-seq
MIRT1079504	hsa-miR-3157-5p	CLIP-seq
MIRT1079505	hsa-miR-342-3p	CLIP-seq
MIRT1079506	hsa-miR-377	CLIP-seq
MIRT1079507	hsa-miR-4319	CLIP-seq
MIRT1079508	hsa-miR-4635	CLIP-seq
MIRT1079509	hsa-miR-4691-3p	CLIP-seq
MIRT1079510	hsa-miR-4732-3p	CLIP-seq
MIRT1079511	hsa-miR-4753-5p	CLIP-seq
MIRT1079512	hsa-miR-512-5p	CLIP-seq
MIRT1079513	hsa-miR-526b	CLIP-seq
MIRT1079514	hsa-miR-603	CLIP-seq
MIRT1079515	hsa-miR-670	CLIP-seq
MIRT2019801	hsa-miR-185	CLIP-seq
MIRT2019802	hsa-miR-24	CLIP-seq
MIRT2019803	hsa-miR-3155	CLIP-seq
MIRT2019804	hsa-miR-3155b	CLIP-seq
MIRT1079504	hsa-miR-3157-5p	CLIP-seq
MIRT1079505	hsa-miR-342-3p	CLIP-seq
MIRT1079506	hsa-miR-377	CLIP-seq
MIRT2019805	hsa-miR-4264	CLIP-seq
MIRT2019806	hsa-miR-4306	CLIP-seq
MIRT2019807	hsa-miR-4528	CLIP-seq
MIRT2019808	hsa-miR-4644	CLIP-seq
MIRT2019809	hsa-miR-4645-5p	CLIP-seq
MIRT2019810	hsa-miR-4673	CLIP-seq
MIRT1079509	hsa-miR-4691-3p	CLIP-seq
MIRT2019811	hsa-miR-4704-3p	CLIP-seq
MIRT1079511	hsa-miR-4753-5p	CLIP-seq
MIRT2019812	hsa-miR-483-3p	CLIP-seq
MIRT2019813	hsa-miR-484	CLIP-seq
MIRT2019814	hsa-miR-508-5p	CLIP-seq
MIRT1079512	hsa-miR-512-5p	CLIP-seq
MIRT1079514	hsa-miR-603	CLIP-seq
MIRT1079500	hsa-miR-101	CLIP-seq
MIRT1079501	hsa-miR-125a-5p	CLIP-seq
MIRT1079502	hsa-miR-125b	CLIP-seq
MIRT1079503	hsa-miR-144	CLIP-seq
MIRT1079504	hsa-miR-3157-5p	CLIP-seq
MIRT1079505	hsa-miR-342-3p	CLIP-seq
MIRT1079506	hsa-miR-377	CLIP-seq
MIRT2251665	hsa-miR-3922-5p	CLIP-seq
MIRT2251666	hsa-miR-3945	CLIP-seq
MIRT1079507	hsa-miR-4319	CLIP-seq
MIRT1079509	hsa-miR-4691-3p	CLIP-seq
MIRT1079510	hsa-miR-4732-3p	CLIP-seq
MIRT1079511	hsa-miR-4753-5p	CLIP-seq
MIRT1079512	hsa-miR-512-5p	CLIP-seq
MIRT1079514	hsa-miR-603	CLIP-seq
MIRT1079515	hsa-miR-670	CLIP-seq
MIRT2452139	hsa-miR-1827	CLIP-seq
MIRT2452140	hsa-miR-3915	CLIP-seq
MIRT2452141	hsa-miR-3928	CLIP-seq
MIRT2452142	hsa-miR-940	CLIP-seq

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	22542517, 30190310
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007015	Process	Actin filament organization	IEA
GO:0014728	Process	Regulation of the force of skeletal muscle contraction	IBA
GO:0014728	Process	Regulation of the force of skeletal muscle contraction	IEA
GO:0014728	Process	Regulation of the force of skeletal muscle contraction	IMP	31671076
GO:0016567	Process	Protein ubiquitination	IEA
GO:0051015	Function	Actin filament binding	IEA
GO:0090076	Process	Relaxation of skeletal muscle	IBA
GO:0090076	Process	Relaxation of skeletal muscle	IEA
GO:0090076	Process	Relaxation of skeletal muscle	IMP	31671076

MIM	HGNC	e!Ensembl
613727	37227	ENSG00000234438

Protein

UniProt ID

C9JR72

Protein name

Kelch repeat and BTB domain-containing protein 13

Protein function

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	6 → 105	BTB/POZ domain	Domain
PF01344	Kelch_1	198 → 245	Kelch motif	Repeat
PF01344	Kelch_1	247 → 292	Kelch motif	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in skeletal muscle. {ECO:0000269|PubMed:21109227}.

Sequence

MARGPQTLVQVWVGGQLFQADRALLVEHCGFFRGLFRSGMRETRAAEVRLGVLSAGGFRA
TLQVLRGDRPALAAEDELLQAVECAAFLQAPALARFLEHNLTSDNCALLCDAAAAFGLRD
VFHSAALFICDGERELAAELALPEARAYVAALRPSSYAAVSTHTPAPGFLEDASRTLCYL
DEEEDAWRTLAALPLEASTLLAGVATLGNKLYIVGGVRGASKEVVELGFCYDPDGGTWHE
FPSPHQPRYDTALAGFDGRLYAIGGEFQRTPISSVERYDPAAGCWSFVADLPQPAAGVPC
AQACGRLFVCLWRPADTTAVVEYAVRTDAWLPVAELRRPQSYGHCMVAHRDSLYVVRNGP
SDDFLHCAIDCLNLATGQWTALPGQFVNSKGALFTAVVRGDTVYTVNRMFTLLYAIEGGT
WRLLREKAGFPRPGSLQTFLLRLPPGAPGPVTSTTAEL

Sequence length

458

Interactions

View interactions

	Reactome
			Neddylation Antigen processing: Ubiquitination & Proteasome degradation

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Nemaline myopathy	nemaline myopathy 6	rs1364598710, rs387907090	N/A

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Charcot Marie Tooth disease X linked recessive 2	Associate	31167812
Muscle Weakness	Associate	39240645
Myopathies Nemaline	Associate	31904591, 33742414, 39240645
Myotonia Congenita	Associate	39240645
Nemaline myopathy 6	Associate	39240645
Retinitis Pigmentosa	Associate	34070492
Spinocerebellar Ataxias	Associate	39240645

KBTBD13 (kelch repeat and BTB domain containing 13)