KBTBD13 - kelch repeat and BTB domain containing 13 Gene

Also Known as NEM6; HCG1645727

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 390594

About KBTBD13

Cytogenetic location: 15q22.31 Genomic coordinates (GRCh38): 15:65,076,746-65,079,948 (from NCBI)

This gene has 1 transcript (splice variant), 238 orthologues, 54 paralogues and is associated with 3 phenotypes.

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-containing proteins. The kelch motif typically occurs in groups of five to seven repeats, and has been found in proteins with diverse functions. Known functions of these family members include transcription regulation, ion channel tetramerization and gating, protein ubiquitination or degradation, and Cytoskeleton regulation. The exact function of this family member has yet to be determined. [provided by RefSeq, Jun 2010]

KBTBD13 Products (1)

mRNA	Protein	Name
NM_001101362.3	NP_001094832.1	kelch repeat and BTB domain-containing protein 13

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within regulation of the force of skeletal muscle contraction	IMP IMP: Inferred from mutant phenotype	31671076	GOA
acts upstream of or within relaxation of skeletal muscle	IMP IMP: Inferred from mutant phenotype	31671076	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KBTBD13 Protein Structure

BTB

Kelch_1

0
100
200
300
400
458 a.a.

Protein Preferred Names	Protein Names
kelch repeat and BTB domain-containing protein 13	kelch repeat and BTB (POZ) domain containing 13

Related Diseases

Diseases	Alias
Nemaline Myopathy 6	NEM6 Nemaline Myopathy 6, Autosomal Dominant Myopathy, Nemaline, Type 6
Childhood-Onset Nemaline Myopathy	Mild Nemaline Myopathy Nemaline Myopathy, Childhood Onset
Congenital Structural Myopathy
Rhabdomyolysis-Myalgia Syndrome
Myopathy	Muscular Diseases Myopathies
Cardiomyopathy, Dilated, 2a	Dilated Cardiomyopathy 2a CMD2A Cardiomyopathy, Dilated, Autosomal Recessive Cardiomyopathy, Congestive, Autosomal Recessive Cardiomyopathy, Dilated 2a Cardiomyopathy, Dilated, Type 2a Autosomal Recessive Dilated Cardiomyopathy
Nemaline Myopathy 8	NEM8 Nemaline Myopathy 8, Autosomal Recessive Myopathy, Nemaline, Type 8
Cardiomyopathy, Dilated, 1ff	Dilated Cardiomyopathy 1ff CMD1FF Cardiomyopathy, Dilated 1ff Cardiomyopathy, Dilated, Type 1ff
Nemaline Myopathy 10	NEM10 Myopathy, Nemaline, Type 10
Nemaline Myopathy 2	NEM2 Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy, Type 2 Neb-Related Nemaline Myopathy Myopathy, Nemaline, Type 2
Nemaline Myopathy 5	Amish Nemaline Myopathy NEM5 Anm Nemaline Myopathy, Amish Type Nemaline Myopathy 5, Amish Type Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene Nemaline Myopathy, Type 5 Nemaline Myopathy Amish Type Tnnt1-Related Nemaline Myopathy Myopathy, Nemaline, Type 5
Congenital Muscular Dystrophy-Dystroglycanopathy Type A10	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A10 Mddga10 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Tmem5-Related
Nemaline Myopathy 9	NEM9 Myopathy, Nemaline, Type 9
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Atrophic Muscular Disease	Muscular Disorders, Atrophic
Congenital Muscular Dystrophy-Dystroglycanopathy A14	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A14 Mddga14 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Gmppb-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 14
Brody Disease	Brody Myopathy BROD Sarcoplasmic Reticulum -Ca2+Atpase Deficiency Myopathy, Brody
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
King-Denborough Syndrome	King Denborough Syndrome King Syndrome Kousseff Nichols Syndrome KDS Noonan Like Contracture Myopathy Hyperpyrexia Anesthetic-Induced Malignant Hyperpyrexia In Children Koussef-Nichols Syndrome
Central Core Disease Of Muscle	Central Core Disease Central Core Myopathy CCD Cco Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber Myopathy, Central Core Shy-Magee Syndrome Muscle Core Disease Muscular Central Core Disease Myopathy, Central Fibrillar Shy'S Disease Moderate Multiminicore Disease With Hand Involvement
Myopathy, Distal, 1	Laing Distal Myopathy Laing Early-Onset Distal Myopathy MPD1 Distal Myopathy 1 Myopathy, Distal, Early-Onset, Autosomal Dominant Distal Myopathy Type 1 Gowers Disease Myopathy, Late Distal Hereditary Myopathy Distal, Type 1 Myopathy Distal Early-Onset Autosomal Dominant Myopathy Late Distal Hereditary Myopathy, Distal, Type 1 Welander Distal Myopathy
X-Linked Cerebellar Ataxia
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Jacobs Syndrome Arthropathy-Camptodactyly Syndrome Pericarditis-Arthropathy-Camptodactyly Syndrome Xyy Syndrome Pac Syndrome Cacp Syndrome CACP Fibrosing Serositis, Familial Camptodactyly-Arthropathy-Pericarditis Syndrome Cap Syndrome 47, Xyy Syndrome 47,Xyy Syndrome Double Y Syndrome Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome Hypertrophic Synovitis, Congenital Familial Congenital Familial Hypertrophic Synovitis Xyy Karyotype Y Disomy Yy Syndrome Familial Fibrosing Serositis Disomy Y Double Y Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Arthropathy Camptodactyly Syndrome Camptodactyly Arthropathy Pericarditis Syndrome Pericarditis Arthropathy Camptodactyly Syndrome Jacob'S Syndrome 47,Xyy Cdags Syndrome
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07092	KBTBD13 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	KBTBD13	VGNC	VGNC:73953
Felis catus	KBTBD13	VGNC	VGNC:63031
Rattus norvegicus	KBTBD13	RGD	RGD:1311093
Bos taurus	KBTBD13	VGNC	VGNC:30414
Mus musculus	KBTBD13	MGD	MGI:1921742
Others	KBTBD13	NCBI