Kbtbd3 Gene Detail

Summary

• Symbol
  Kbtbd3
• Name
  kelch repeat and BTB (POZ) domain containing 3
• Synonyms
  2200003A07Rik, Bklhd3

• Feature Type
  protein coding gene
• IDs
  MGI:1916399
  NCBI Gene: 69149
• Alliance
  gene page
• Transcription Start Sites
  6 TSS

Location &
Maps

• Sequence Map
  Chr9:4309833-4331732 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 9, 2.46 cM, cytoband A1
• Mapping Data
  2 experiments

Strain
Comparison

• SNPs within 2kb
  90 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916399	protein coding gene	Chr9:4309743-4331829 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0034309	protein coding gene	Chr9:1023001-1044893 (+)
A/J	MGP_AJ_G0034286	protein coding gene	Chr9:1185464-1207361 (+)
AKR/J	MGP_AKRJ_G0034216	protein coding gene	Chr9:1042084-1064034 (+)
BALB/cJ	MGP_BALBcJ_G0034280	protein coding gene	Chr9:982804-1004778 (+)
C3H/HeJ	MGP_C3HHeJ_G0033992	protein coding gene	Chr9:1204435-1226726 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0034802	protein coding gene	Chr9:1147026-1170012 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0031740	protein coding gene	Chr9:803895-824656 (+)
CAST/EiJ	MGP_CASTEiJ_G0033319	protein coding gene	Chr9:1270044-1295444 (+)
CBA/J	MGP_CBAJ_G0033964	protein coding gene	Chr9:1082647-1104550 (+)
DBA/2J	MGP_DBA2J_G0034121	protein coding gene	Chr9:1143558-1165551 (+)
FVB/NJ	MGP_FVBNJ_G0034066	protein coding gene	Chr9:985851-1008145 (+)
LP/J	MGP_LPJ_G0034208	protein coding gene	Chr9:1068561-1090580 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0034110	protein coding gene	Chr9:1436753-1460085 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0034821	protein coding gene	Chr9:1021427-1043332 (+)
PWK/PhJ	MGP_PWKPhJ_G0033023	protein coding gene	Chr9:1283207-1305337 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032860	protein coding gene	Chr9:1305577-1327340 (+)
WSB/EiJ	MGP_WSBEiJ_G0033435	protein coding gene	Chr9:1054977-1083206 (+)

Homology

• Human Ortholog
  KBTBD3, kelch repeat and BTB domain containing 3

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  KBTBD3, kelch repeat and BTB domain containing 3
  
• Synonyms
  BKLHD3
• Links
  HGNC:22934

  NCBI Gene ID: 143879

  neXtProt AC: NX_Q8NAB2

  UniProt: Q8NAB2

  
  
• Chr Location
  11q22.3; chr11:106046801-106077765 (-)  GRCh38.p7

---

• Alliance of Genome Resources
  Kbtbd3 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: KBTBD3
• Protein SuperFamily
  Kelch-like_protein_gigaxonin
• Gene Tree
  Kbtbd3
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  5 phenotype references
  

• All Mutations and Alleles
  13
• Endonuclease-mediated
  3
• Gene trapped
  10
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  27 strains or lines available

Expression

• Assay Results
  784
• Tissues
  57
• cDNA Data
  16
• Literature Summary
  4

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase kbtbd3

Interactions

• Kbtbd3 interacts with 107 markers (Mir7-1, Mir20a, Mir30a, ...) View All

Sequences &
Gene Models

• All Sequences
  54
• RefSeq
  14
• UniProt
  4
• CCDS
  CCDS22795.1

• Ensembl
  ENSMUSG00000025893 (Evidence)
• NCBI Gene
  69149

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000025893	Ensembl Gene Model | MGI Sequence Detail	21900	C57BL/6J
transcript	ENSMUST00000049648	Ensembl | MGI Sequence Detail	2231	Not Applicable
polypeptide	ENSMUSP00000050183	Ensembl | MGI Sequence Detail	607	Not Applicable

Protein
Information

• UniProt
  4 Sequences
• Protein Ontology
  PR:000032112 kelch repeat and BTB domain-containing protein 3
  (term hierarchy)
• InterPro Domains
  IPR011705 BTB/Kelch-associated
  IPR017096 BTB-kelch protein
  IPR000210 BTB/POZ domain
  IPR030589 Kelch repeat and BTB domain-containing protein 3, BTB/POZ domain
  IPR006652 Kelch repeat type 1
  IPR015915 Kelch-type beta propeller
  IPR011333 SKP1/BTB/POZ domain superfamily

Molecular
Reagents

• All nucleic 17

  cDNA 16

  Primer pair 1

  
  

  Microarray probesets 4

References

• Summaries
  All 28

  Developmental Gene Expression 4

  Phenotypes 5
• Earliest
  J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
• Latest
  J:182258 Taher L, et al., Global gene expression analysis of murine limb development. PLoS One. 2011;6(12):e28358

TSS for Kbtbd3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr83623	Chr9:4309719-4309748 (+)	-99 bp
Tssr83624	Chr9:4309760-4309779 (+)	-63 bp
Tssr83625	Chr9:4309799-4309825 (+)	-21 bp
Tssr83626	Chr9:4309827-4309842 (+)	2 bp
Tssr83627	Chr9:4309878-4309933 (+)	73 bp
Tssr83628	Chr9:4313101-4313105 (+)	3,270 bp