Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: KBTBD13 (kelch repeat and BTB domain containing 13) Homo sapiens
Symbol: KBTBD13
Name: kelch repeat and BTB domain containing 13
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HCG1645727; kelch repeat and BTB (POZ) domain containing 13; kelch repeat and BTB domain-containing protein 13; NEM6; nemaline myopathy type 6
Mus musculus (house mouse) : Kbtbd13 (kelch repeat and BTB (POZ) domain containing 13)  MGI  Alliance
Rattus norvegicus (Norway rat) : Kbtbd13 (kelch repeat and BTB domain containing 13)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Kbtbd13 (kelch repeat and BTB domain containing 13)
Pan paniscus (bonobo/pygmy chimpanzee) : KBTBD13 (kelch repeat and BTB domain containing 13)
Canis lupus familiaris (dog) : KBTBD13 (kelch repeat and BTB domain containing 13)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Kbtbd13 (kelch repeat and BTB domain containing 13)
Sus scrofa (pig) : KBTBD13 (kelch repeat and BTB domain containing 13)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381565,076,816 - 65,079,938 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371565,369,154 - 65,372,276 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361563,156,207 - 63,157,583 (+)NCBINCBI36hg18NCBI36
Celera1542,247,313 - 42,250,435 (+)NCBI
Cytogenetic Map15q22.31NCBI
HuRef1542,193,792 - 42,196,914 (+)NCBIHuRef
CHM1_11565,488,941 - 65,492,063 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on KBTBD13
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 3130125
Created: 2010-07-04
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.