Kbtbd3 MGI Mouse Gene Detail - MGI:1916399 - kelch repeat and BTB (POZ) domain containing 3

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

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

SNPs within 2kb

487 from dbSNP Build 142
Strain Annotations

18

For selected strains:

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 (+)

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; chr11:106051098-106077459 (-) GRCh38

MGI Vertebrate Homology

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

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
7 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

13
Endonuclease-mediated

3
Gene trapped

10
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

39 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

4
GO References

1

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

784
Tissues

57
cDNA Data

16
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kbtbd3

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All Sequences

58
RefSeq

18
UniProt

4
CCDS

CCDS22795.1

Ensembl

ENSMUSG00000025893 (Evidence)
NCBI Gene

69149

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

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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

IPR047062 Kelch repeat and BTB domain-containing protein 3, BACK 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

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All nucleic 17

cDNA 16

Primer pair 1

Microarray probesets 4

Summaries

All 31

Developmental Gene Expression 4

Gene Ontology 1

Phenotypes 7
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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