Kbtbd2 MGI Mouse Gene Detail - MGI:2384811 - kelch repeat and BTB (POZ) domain containing 2

Symbol

Kbtbd2
Name

kelch repeat and BTB (POZ) domain containing 2
Synonyms

Bklhd1, MGC:36672, mKIAA1489

Feature Type

protein coding gene
IDs

MGI:2384811
NCBI Gene: 210973
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr6:56754510-56774798 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 27.73 cM
Mapping Data

1 experiment

SNPs within 2kb

470 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2384811	protein coding gene	Chr6:56754509-56774798 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0030781	protein coding gene	Chr6:56235777-56256079 (-)
A/J	MGP_AJ_G0030750	protein coding gene	Chr6:53631019-53651308 (-)
AKR/J	MGP_AKRJ_G0030677	protein coding gene	Chr6:55430477-55450760 (-)
BALB/cJ	MGP_BALBcJ_G0030762	protein coding gene	Chr6:54015525-54036153 (-)
C3H/HeJ	MGP_C3HHeJ_G0030475	protein coding gene	Chr6:55489005-55509870 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031217	protein coding gene	Chr6:57509499-57529788 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028423	protein coding gene	Chr6:51194057-51216875 (-)
CAST/EiJ	MGP_CASTEiJ_G0029878	protein coding gene	Chr6:55322545-55343629 (-)
CBA/J	MGP_CBAJ_G0030449	protein coding gene	Chr6:59878486-59898776 (-)
DBA/2J	MGP_DBA2J_G0030599	protein coding gene	Chr6:53518831-53539176 (-)
FVB/NJ	MGP_FVBNJ_G0030551	protein coding gene	Chr6:53108294-53128618 (-)
LP/J	MGP_LPJ_G0030684	protein coding gene	Chr6:56158144-56178458 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030585	protein coding gene	Chr6:62316790-62338869 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031247	protein coding gene	Chr6:55400004-55420261 (-)
PWK/PhJ	MGP_PWKPhJ_G0029591	protein coding gene	Chr6:53197787-53218486 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0029425	protein coding gene	Chr6:54812625-54832941 (-)
WSB/EiJ	MGP_WSBEiJ_G0029955	protein coding gene	Chr6:55464629-55485153 (-)

Human Ortholog

KBTBD2, kelch repeat and BTB domain containing 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KBTBD2, kelch repeat and BTB domain containing 2
Synonyms

BKLHD1
Links

HGNC:21751

NCBI Gene ID: 25948

neXtProt AC: NX_Q8IY47

UniProt: Q8IY47
Chr Location

7p14.3; chr7:32868172-32894131 (-) GRCh38

MGI Vertebrate Homology

Kbtbd2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KBTBD2
Protein SuperFamily

Kelch-like_protein_gigaxonin
Gene Tree

Kbtbd2

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Phenotype Summary

22 phenotypes from 3 alleles in 3 genetic backgrounds
5 phenotypes from multigenic genotypes
14 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

45
Chemically induced (ENU)

2
Endonuclease-mediated

4
Gene trapped

37
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

50 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele or mutation exhibit diabetes, lipodystrophy, and hepatic steatosis.

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All GO Annotations

18
GO References

4

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

706
cDNA Data

4

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kbtbd2

ZFIN kbtbd2

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All Sequences

50
RefSeq

12
UniProt

4
CCDS

CCDS51790.1

Ensembl

ENSMUSG00000059486 (Evidence)
NCBI Gene

210973

			Length	Strain/Species	Flank
genomic	210973	NCBI Gene Model \| MGI Sequence Detail	20289	C57BL/6J	± kb
transcript	NM_001362209	RefSeq \| MGI Sequence Detail	4168	C57BL/6
polypeptide	G3X9X1	UniProt \| EBI \| MGI Sequence Detail	623	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000030822 kelch repeat and BTB domain-containing protein 2

(term hierarchy)
InterPro Domains

IPR011705 BTB/Kelch-associated

IPR017096 BTB-kelch protein

IPR000210 BTB/POZ domain

IPR047074 Kelch repeat and BTB domain-containing protein 2, BACK domain

IPR030586 Kelch repeat and BTB domain-containing protein 2, 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 4

cDNA 4

Microarray probesets 3

Summaries

All 35

Gene Ontology 4

Phenotypes 14
Earliest

J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Kbtbd2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr61144	Chr6:56774746-56774771 (-)	39 bp
Tssr61143	Chr6:56774622-56774742 (-)	116 bp
Tssr61142	Chr6:56774480-56774538 (-)	289 bp
Tssr61141	Chr6:56773706-56773736 (-)	1,077 bp
Tssr61140	Chr6:56761408-56761411 (-)	13,388 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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