Klhl24 MGI Mouse Gene Detail - MGI:1923035

Symbol

Klhl24
Name

kelch-like 24
Synonyms

1110046J11Rik, 4930429H24Rik, 6530402O20Rik

Feature Type

protein coding gene
IDs

MGI:1923035
NCBI Gene: 75785
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr16:19916292-19947971 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 12.36 cM, cytoband B1
Mapping Data

3 experiments

SNPs within 2kb

791 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1923035	protein coding gene	Chr16:19916286-19947976 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022636	protein coding gene	Chr16:17395136-17425871 (+)
A/J	MGP_AJ_G0022598	protein coding gene	Chr16:16570260-16600870 (+)
AKR/J	MGP_AKRJ_G0022573	protein coding gene	Chr16:17204223-17234415 (+)
BALB/cJ	MGP_BALBcJ_G0022602	protein coding gene	Chr16:16717188-16747415 (+)
C3H/HeJ	MGP_C3HHeJ_G0022367	protein coding gene	Chr16:17356892-17393239 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023053	protein coding gene	Chr16:17721490-17758918 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020570	protein coding gene	Chr16:17249723-17280238 (+)
CAST/EiJ	MGP_CASTEiJ_G0021897	protein coding gene	Chr16:17338296-17369816 (+)
CBA/J	MGP_CBAJ_G0022339	protein coding gene	Chr16:18439170-18472841 (+)
DBA/2J	MGP_DBA2J_G0022471	protein coding gene	Chr16:16482266-16528924 (+)
FVB/NJ	MGP_FVBNJ_G0022446	protein coding gene	Chr16:16529870-16560085 (+)
LP/J	MGP_LPJ_G0022538	protein coding gene	Chr16:17144187-17176073 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022466	protein coding gene	Chr16:18159190-18191510 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023064	protein coding gene	Chr16:17152015-17183302 (+)
PWK/PhJ	MGP_PWKPhJ_G0021638	protein coding gene	Chr16:16733592-16764412 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021467	protein coding gene	Chr16:16946606-16977417 (+)
WSB/EiJ	MGP_WSBEiJ_G0021941	protein coding gene	Chr16:17149886-17180211 (+)

Human Ortholog

KLHL24, kelch like family member 24

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KLHL24, kelch like family member 24
Synonyms

CMH29, DRE1, EBS6, EBSSH, KRIP6
Links

HGNC:25947

NCBI Gene ID: 54800

neXtProt AC: NX_Q6TFL4

UniProt: Q6TFL4
Chr Location

3q27.1; chr3:183635610-183684519 (+) GRCh38

MGI Vertebrate Homology

Klhl24 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: KLHL24
Protein SuperFamily

Kelch-like_protein_gigaxonin
Gene Tree

Klhl24

Diseases

2 with human KLHL24 associations

				Human Disease	Mouse Models
				epidermolysis bullosa simplex IDs epidermolysis bullosa simplex DOID:4644 ICD10CM:Q81.0 MESH:D016110 NCI:C84692 OMIM:601001 OMIM:615425 ORDO:304 UMLS_CUI:C0079298
				familial hypertrophic cardiomyopathy IDs familial hypertrophic cardiomyopathy DOID:0080326 MESH:D024741 NCI:C84773 OMIM:PS192600 ORDO:217569 UMLS_CUI:C0949658

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

6 phenotypes from 2 alleles in 2 genetic backgrounds
11 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

8
Endonuclease-mediated

5
Gene trapped

2
Targeted

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

35 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice heterozygous for a single point mutation in the initiation codon exhibit decreased body size and weight, premature hair loss, and a reduction of keratin 14 protein levels in skin but no signs of skin fragility.

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All GO Annotations

20
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

782
Tissues

11
cDNA Data

21
Literature Summary

1

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase klhl24

ZFIN klhl24a, klhl24b

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All Sequences

61
RefSeq

7
UniProt

3
CCDS

CCDS28042.1

Ensembl

ENSMUSG00000062901 (Evidence)
NCBI Gene

75785

			Length	Strain/Species	Flank
genomic	ENSMUSG00000062901	Ensembl Gene Model \| MGI Sequence Detail	31680	C57BL/6J	± kb
transcript	ENSMUST00000023509	Ensembl \| MGI Sequence Detail	8172	Not Applicable
polypeptide	ENSMUSP00000023509	Ensembl \| MGI Sequence Detail	600	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000009386 kelch-like protein 24

(term hierarchy)
InterPro Domains

IPR011705 BTB/Kelch-associated

IPR017096 BTB-kelch protein

IPR000210 BTB/POZ domain

IPR047071 Kelch-like protein 24, BACK domain

IPR030596 Kelch-like protein 24, 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 22

cDNA 22

Microarray probesets 7

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MGI:1916062, MGI:1923466, MGI:2146718

Summaries

All 36

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 11
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 Klhl24:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr137417	Chr16:19916305-19916346 (+)	34 bp
Tssr137418	Chr16:19916353-19916365 (+)	67 bp
Tssr137419	Chr16:19926287-19926310 (+)	10,007 bp
Tssr137420	Chr16:19931254-19931267 (+)	14,969 bp
Tssr137421	Chr16:19942352-19942356 (+)	26,062 bp
Tssr137422	Chr16:19942571-19942588 (+)	26,288 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 11/12/2024 MGI 6.24