Klhdc2 MGI Mouse Gene Detail - MGI:1916804

Symbol

Klhdc2
Name

kelch domain containing 2
Synonyms

2310022K15Rik, D12Ertd522e, HCLP-1

Feature Type

protein coding gene
IDs

MGI:1916804
NCBI Gene: 69554
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr12:69343455-69357461 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 28.77 cM, cytoband C3
Mapping Data

4 experiments

SNPs within 2kb

496 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1916804	protein coding gene	Chr12:69343455-69357461 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019793	protein coding gene	Chr12:68975028-68990194 (+)
A/J	MGP_AJ_G0019751	protein coding gene	Chr12:66414971-66429339 (+)
AKR/J	MGP_AKRJ_G0019727	protein coding gene	Chr12:68398604-68416565 (+)
BALB/cJ	MGP_BALBcJ_G0019731	protein coding gene	Chr12:66876774-66890977 (+)
C3H/HeJ	MGP_C3HHeJ_G0019537	protein coding gene	Chr12:68865943-68881265 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020183	protein coding gene	Chr12:71164767-71180345 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017803	protein coding gene	Chr12:63957959-63973338 (+)
CAST/EiJ	MGP_CASTEiJ_G0019088	protein coding gene	Chr12:63614712-63633305 (+)
CBA/J	MGP_CBAJ_G0019506	protein coding gene	Chr12:73802126-73825078 (+)
DBA/2J	MGP_DBA2J_G0019622	protein coding gene	Chr12:66325634-66339868 (+)
FVB/NJ	MGP_FVBNJ_G0019609	protein coding gene	Chr12:65223892-65246862 (+)
LP/J	MGP_LPJ_G0019694	protein coding gene	Chr12:68934305-68948577 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019648	protein coding gene	Chr12:77142442-77158843 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020218	protein coding gene	Chr12:67874766-67889063 (+)
PWK/PhJ	MGP_PWKPhJ_G0018853	protein coding gene	Chr12:60592485-60604921 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018648	protein coding gene	Chr12:62263990-62277710 (+)
WSB/EiJ	MGP_WSBEiJ_G0019139	protein coding gene	Chr12:68488504-68505713 (+)

Human Ortholog

KLHDC2, kelch domain containing 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KLHDC2, kelch domain containing 2
Synonyms

HCLP-1, HCLP1, LCP
Links

HGNC:20231

NCBI Gene ID: 23588

neXtProt AC: NX_Q9Y2U9

UniProt: Q9Y2U9
Chr Location

14q21.3; chr14:49768130-49786385 (+) GRCh38

MGI Vertebrate Homology

Klhdc2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KLHDC2
Gene Tree

Klhdc2

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Phenotype Summary

12 phenotypes from 2 alleles in 2 genetic backgrounds
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

10
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

2
Targeted

6
Genomic Mutations

1 involving Klhdc2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

26 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

17
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	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

847
Tissues

50
cDNA Data

131
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase klhdc2

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All Sequences

40
RefSeq

2
UniProt

1
CCDS

CCDS25950.1

Ensembl

ENSMUSG00000020978 (Evidence)
NCBI Gene

69554

			Length	Strain/Species	Flank
genomic	69554	NCBI Gene Model \| MGI Sequence Detail	14007	C57BL/6J	± kb
transcript	NM_027117	RefSeq \| MGI Sequence Detail	1946	ZRU/MplStud
polypeptide	Q4G5Y1	UniProt \| EBI \| MGI Sequence Detail	406	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000009370 kelch domain-containing protein 2

(term hierarchy)
InterPro Domains

IPR011043 Galactose oxidase/kelch, beta-propeller

IPR052257 Kelch domain-containing E3 ubiquitin-protein ligase complex component

IPR015915 Kelch-type beta propeller

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All nucleic 135

cDNA 134

Primer pair 1

Microarray probesets 4

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MGI:1261874

Summaries

All 43

Developmental Gene Expression 2

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 Klhdc2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113629	Chr12:69342756-69342766 (+)	-694 bp
Tssr113630	Chr12:69343450-69343572 (+)	56 bp
Tssr113631	Chr12:69343605-69343678 (+)	187 bp
Tssr113632	Chr12:69343702-69343707 (+)	250 bp
Tssr113633	Chr12:69343712-69343717 (+)	260 bp
Tssr113634	Chr12:69343738-69343745 (+)	287 bp
Tssr113635	Chr12:69343746-69343764 (+)	300 bp
Tssr113636	Chr12:69344173-69344220 (+)	742 bp
Tssr113637	Chr12:69349116-69349135 (+)	5,671 bp
Tssr113638	Chr12:69357295-69357300 (+)	13,843 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