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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	390594
Gene name	Kelch repeat and BTB domain containing 13
Gene symbol	KBTBD13
Synonyms (NCBI Gene)	HCG1645727NEM6
Chromosome	15
Chromosome location	15q22.31
Summary	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

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

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Nemaline myopathy 6	Likely pathogenic; Pathogenic	rs1364598710, rs387907090	RCV002288402 RCV000024055 RCV000024056	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

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.
Actin accumulation myopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET NEMALINE MYOPATHY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KBTBD13-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPATHIES, NEMALINE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nemaline Myopathy, Dominant	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood-onset nemaline myopathy	Nemaline myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	31904591, 33742414, 39240645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	21109227, 22542517, 30990797, 31828823		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	39240645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nemaline myopathy 6	Nemaline myopathy	GENOMICS_ENGLAND_DG	12805120, 21109227		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline myopathy 6	Nemaline myopathy	UNIPROT_DG	21109227		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline myopathy 6	Nemaline myopathy	Pubtator	39240645	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline myopathy 6	Nemaline myopathy	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline myopathy 6	Nemaline myopathy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nemaline Myopathy, Childhood Onset	Nemaline myopathy	ORPHANET_DG	21104864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular dysphagia	Neuromuscular dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	34070492	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	39240645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KBTBD13 (kelch repeat and BTB domain containing 13)