Kbtbd8 MGI Mouse Gene Detail - MGI:2661430 - kelch repeat and BTB (POZ) domain containing 8

Symbol

Kbtbd8
Name

kelch repeat and BTB (POZ) domain containing 8
Synonyms

mKIAA1842, SSEC 51, SSEC-51, SSEC51, Takrp

Feature Type

protein coding gene
IDs

MGI:2661430
NCBI Gene: 243574
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr6:95094861-95106774 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 44.32 cM
Mapping Data

1 experiment

SNPs within 2kb

267 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2661430	protein coding gene	Chr6:95094221-95106774 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0031066	protein coding gene	Chr6:96913667-96923326 (+)
A/J	MGP_AJ_G0031035	protein coding gene	Chr6:93223312-93233007 (+)
AKR/J	MGP_AKRJ_G0030966	protein coding gene	Chr6:95789591-95799249 (+)
BALB/cJ	MGP_BALBcJ_G0031046	protein coding gene	Chr6:93174582-93184277 (+)
C3H/HeJ	MGP_C3HHeJ_G0030662	protein coding gene	Chr6:88611174-88626173 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031505	protein coding gene	Chr6:99327448-99338560 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028671	protein coding gene	Chr6:91176394-91188756 (+)
CAST/EiJ	MGP_CASTEiJ_G0030153	protein coding gene	Chr6:95992845-96008121 (+)
CBA/J	MGP_CBAJ_G0030732	protein coding gene	Chr6:103132315-103142025 (+)
DBA/2J	MGP_DBA2J_G0030885	protein coding gene	Chr6:92370662-92380357 (+)
FVB/NJ	MGP_FVBNJ_G0030839	protein coding gene	Chr6:91581093-91593508 (+)
LP/J	MGP_LPJ_G0030965	protein coding gene	Chr6:96892494-96902208 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030873	protein coding gene	Chr6:107064879-107074546 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031532	protein coding gene	Chr6:95664652-95678341 (+)
PWK/PhJ	MGP_PWKPhJ_G0029869	protein coding gene	Chr6:91393275-91403147 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0029698	protein coding gene	Chr6:94602203-94614366 (+)
WSB/EiJ	MGP_WSBEiJ_G0030237	protein coding gene	Chr6:96125766-96141348 (+)

Human Ortholog

KBTBD8, kelch repeat and BTB domain containing 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KBTBD8, kelch repeat and BTB domain containing 8
Synonyms

TA-KRP, TAKRP
Links

HGNC:30691

NCBI Gene ID: 84541

neXtProt AC: NX_Q8NFY9

UniProt: Q8NFY9
Chr Location

3p14.1; chr3:66998307-67011210 (+) GRCh38

MGI Vertebrate Homology

Kbtbd8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KBTBD8
Protein SuperFamily

Kelch-like_protein_gigaxonin
Gene Tree

Kbtbd8

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Phenotype Summary

10 phenotypes from 1 allele in 1 genetic background
12 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

5
Endonuclease-mediated

2
Gene trapped

1
Spontaneous

1
Targeted

1
Genomic Mutations

1 involving Kbtbd8
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

44 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

15
GO References

5

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	non-membrane-bounded 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

764
Tissues

36
cDNA Data

68
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kbtbd8

ZFIN kbtbd8

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All Sequences

47
RefSeq

4
UniProt

2
CCDS

CCDS51856.1, CCDS51857.1

Ensembl

ENSMUSG00000030031 (Evidence)
NCBI Gene

243574

			Length	Strain/Species	Flank
genomic	243574	NCBI Gene Model \| MGI Sequence Detail	11914	C57BL/6J	± kb
transcript	NM_001008785	RefSeq \| MGI Sequence Detail	4732	C57BL/6
polypeptide	Q3UQV5	UniProt \| EBI \| MGI Sequence Detail	599	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000031544 kelch repeat and BTB domain-containing protein 8

(term hierarchy)
InterPro Domains

IPR011705 BTB/Kelch-associated

IPR017096 BTB-kelch protein

IPR000210 BTB/POZ domain

IPR028764 Kelch repeat and BTB domain-containing protein 8, 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 68

cDNA 68

Microarray probesets 6

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MGI:2141580

Summaries

All 40

Developmental Gene Expression 4

Gene Ontology 5

Phenotypes 12
Earliest

J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
Latest

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

TSS for Kbtbd8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr57821	Chr6:95094882-95094941 (+)	51 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 10/29/2024 MGI 6.24