Kbtbd12 MGI Mouse Gene Detail - MGI:1918481 - kelch repeat and BTB (POZ) domain containing 12

Symbol

Kbtbd12
Name

kelch repeat and BTB (POZ) domain containing 12
Synonyms

4833415F11Rik, 4933428M03Rik, Klhdc6

Feature Type

protein coding gene
IDs

MGI:1918481
NCBI Gene: 74589
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr6:88521931-88604636 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 39.51 cM, cytoband D2
Mapping Data

2 experiments

SNPs within 2kb

2196 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1918481	protein coding gene	Chr6:88521931-88614932 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0031012	protein coding gene	Chr6:89947974-90038593 (-)
A/J	MGP_AJ_G0030978	protein coding gene	Chr6:86490150-86578171 (-)
AKR/J	MGP_AKRJ_G0030909	protein coding gene	Chr6:88977444-89061042 (-)
BALB/cJ	MGP_BALBcJ_G0030991	protein coding gene	Chr6:86486950-86571624 (-)
C3H/HeJ	MGP_C3HHeJ_G0030719	protein coding gene	Chr6:95390090-95479266 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0031448	protein coding gene	Chr6:92379012-92467888 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0028630	protein coding gene	Chr6:84644720-84731833 (-)
CAST/EiJ	MGP_CASTEiJ_G0030100	protein coding gene	Chr6:89070007-89166447 (-)
CBA/J	MGP_CBAJ_G0030675	protein coding gene	Chr6:95921441-96009445 (-)
DBA/2J	MGP_DBA2J_G0030831	protein coding gene	Chr6:85773454-85860611 (-)
FVB/NJ	MGP_FVBNJ_G0030784	protein coding gene	Chr6:84965972-85052138 (-)
LP/J	MGP_LPJ_G0030908	protein coding gene	Chr6:89983413-90070975 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0030817	protein coding gene	Chr6:100024111-100113637 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031475	protein coding gene	Chr6:88835279-88920766 (-)
PWK/PhJ	MGP_PWKPhJ_G0029815	protein coding gene	Chr6:84754912-84841953 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0029643	protein coding gene	Chr6:87647332-87731720 (-)
WSB/EiJ	MGP_WSBEiJ_G0030181	protein coding gene	Chr6:89285049-89375013 (-)

Human Ortholog

KBTBD12, kelch repeat and BTB domain containing 12

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KBTBD12, kelch repeat and BTB domain containing 12
Synonyms

KLHDC6
Links

HGNC:25731

NCBI Gene ID: 166348

neXtProt AC: NX_Q3ZCT8

UniProt: Q3ZCT8
Chr Location

3q21.3; chr3:127915232-127987677 (+) GRCh38

MGI Vertebrate Homology

Kbtbd12 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KBTBD12
Protein SuperFamily

Kelch-like_protein_gigaxonin
Gene Tree

Kbtbd12

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Phenotype Summary

4 phenotypes from 1 allele in 1 genetic background
10 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

6
Endonuclease-mediated

2
Gene trapped

3
Spontaneous

1
Genomic Mutations

1 involving Kbtbd12
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

42 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

709
Tissues

3
cDNA Data

8
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kbtbd12

ZFIN kbtbd12

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All Sequences

45
RefSeq

6
UniProt

4
CCDS

CCDS20337.1, CCDS51842.2

Ensembl

ENSMUSG00000033182 (Evidence)
NCBI Gene

74589

			Length	Strain/Species	Flank
genomic	74589	NCBI Gene Model \| MGI Sequence Detail	82706	C57BL/6J	± kb
transcript	NM_001278671	RefSeq \| MGI Sequence Detail	4628	C57BL/6
polypeptide	Q9D618	UniProt \| EBI \| MGI Sequence Detail	625	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000030824 kelch repeat and BTB domain-containing protein 12

(term hierarchy)
InterPro Domains

IPR011705 BTB/Kelch-associated

IPR017096 BTB-kelch protein

IPR000210 BTB/POZ domain

IPR052392 Kelch repeat and BTB domain-containing protein

IPR006652 Kelch repeat type 1

IPR015915 Kelch-type beta propeller

IPR011333 SKP1/BTB/POZ domain superfamily

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All nucleic 10

cDNA 8

Primer pair 1

Other 1

Microarray probesets 4

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MGI:1921839

Summaries

All 30

Developmental Gene Expression 1

Gene Ontology 1

Phenotypes 10
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 Kbtbd12:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr61985	Chr6:88604404-88604436 (-)	216 bp
Tssr61984	Chr6:88578285-88578290 (-)	26,348 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 12/10/2024 MGI 6.24