Kbtbd4 Gene Detail

Summary

• Symbol
  Kbtbd4
• Name
  kelch repeat and BTB (POZ) domain containing 4
• Synonyms
  2510026C23Rik

• Feature Type
  protein coding gene
• IDs
  MGI:1914386
  NCBI Gene: 67136
• Alliance
  gene page
• Transcription Start Sites
  6 TSS

Location &
Maps

• Sequence Map
  Chr2:90735084-90740905 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 2, 50.44 cM, cytoband E1
• Mapping Data
  3 experiments

Strain
Comparison

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

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914386	protein coding gene	Chr2:90735084-90741970 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026136	protein coding gene	Chr2:92191666-92198516 (+)
A/J	MGP_AJ_G0026097	protein coding gene	Chr2:88511162-88518054 (+)
AKR/J	MGP_AKRJ_G0026078	protein coding gene	Chr2:90960929-90967790 (+)
BALB/cJ	MGP_BALBcJ_G0026106	protein coding gene	Chr2:88673632-88680507 (+)
C3H/HeJ	MGP_C3HHeJ_G0025857	protein coding gene	Chr2:91236865-91243707 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026557	protein coding gene	Chr2:95452070-95460353 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023948	protein coding gene	Chr2:85029452-85036145 (+)
CAST/EiJ	MGP_CASTEiJ_G0025322	protein coding gene	Chr2:91756560-91763421 (+)
CBA/J	MGP_CBAJ_G0025835	protein coding gene	Chr2:98688495-98695372 (+)
DBA/2J	MGP_DBA2J_G0025971	protein coding gene	Chr2:88109097-88115944 (+)
FVB/NJ	MGP_FVBNJ_G0025934	protein coding gene	Chr2:87215884-87222755 (+)
LP/J	MGP_LPJ_G0026075	protein coding gene	Chr2:92406140-92412939 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025960	protein coding gene	Chr2:101739359-101746291 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026611	protein coding gene	Chr2:91013974-91022022 (+)
PWK/PhJ	MGP_PWKPhJ_G0025057	protein coding gene	Chr2:87832979-87839899 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0024858	protein coding gene	Chr2:90595811-90602637 (+)
WSB/EiJ	MGP_WSBEiJ_G0025389	protein coding gene	Chr2:91603893-91611854 (+)

Homology

• Human Ortholog
  KBTBD4, kelch repeat and BTB domain containing 4

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  KBTBD4, kelch repeat and BTB domain containing 4
  
• Synonyms
  BKLHD4, HSPC252
• Links
  HGNC:23761

  NCBI Gene ID: 55709

  neXtProt AC: NX_Q9NVX7

  UniProt: Q9NVX7

  
  
• Chr Location
  11p11.2; chr11:47572197-47579015 (-)  GRCh38.p7

---

• Alliance of Genome Resources
  Kbtbd4 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: KBTBD4
• Protein SuperFamily
  Kelch-like_protein_gigaxonin
• Gene Tree
  Kbtbd4
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  9 phenotype references
  

• All Mutations and Alleles
  9
• Chemically induced (other)
  1
• Gene trapped
  3
• Radiation induced
  1
• Targeted
  4
• Genomic Mutations
  4 involving Kbtbd4
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  8 strains or lines available

Expression

• Assay Results
  847
• Tissues
  64
• cDNA Data
  65
• Literature Summary
  4

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase kbtbd4
  ZFIN kbtbd4

Interactions

• Kbtbd4 interacts with 120 markers (Mir1a-1, Mir1a-2, Mir15a, ...) View All

Sequences &
Gene Models

• All Sequences
  42
• RefSeq
  6
• UniProt
  1
• CCDS
  CCDS16419.1, CCDS79820.1

• Ensembl
  ENSMUSG00000005505 (Evidence)
• NCBI Gene
  67136

Representative Sequences			Length	Strain/Species
genomic	67136	NCBI Gene Model | MGI Sequence Detail	5822	C57BL/6J
transcript	NM_025991	RefSeq | MGI Sequence Detail	2411	C57BL/6
polypeptide	Q8R179	UniProt | EBI | MGI Sequence Detail	534	Not Applicable

Protein
Information

• UniProt
  1 Sequence
• Protein Ontology
  PR:000032715 kelch repeat and BTB domain-containing protein 4
  (term hierarchy)
• InterPro Domains
  IPR011705 BTB/Kelch-associated
  IPR017096 BTB-kelch protein
  IPR000210 BTB/POZ domain
  IPR042950 KBTBD4, BACK domain
  IPR042949 KBTBD4, BTB/POZ domain
  IPR042884 Kelch repeat and BTB domain-containing protein 4
  IPR015915 Kelch-type beta propeller
  IPR011333 SKP1/BTB/POZ domain superfamily

Molecular
Reagents

• All nucleic 65

  cDNA 65

  
  

  Microarray probesets 3

References

• Summaries
  All 32

  Developmental Gene Expression 4

  Phenotypes 9
• Earliest
  J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
• Latest
  J:269738 Guerreiro I, et al., Reorganisation of Hoxd regulatory landscapes during the evolution of a snake-like body plan. Elife. 2016 Aug 1;5:e16087

TSS for Kbtbd4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr18797	Chr2:90735077-90735091 (+)	0 bp
Tssr18798	Chr2:90735100-90735122 (+)	27 bp
Tssr18799	Chr2:90735133-90735142 (+)	54 bp
Tssr18800	Chr2:90735387-90735402 (+)	311 bp
Tssr18801	Chr2:90735404-90735419 (+)	328 bp
Tssr18802	Chr2:90739530-90739542 (+)	4,452 bp