Dhcr24 MGI Mouse Gene Detail - MGI:1922004 - 24-dehydrocholesterol reductase

Symbol

Dhcr24
Name

24-dehydrocholesterol reductase
Synonyms

2310076D10Rik, 3-beta-hydroxysterol delta-24 reductase, 5830417J06Rik, mKIAA0018, seladin-1

Feature Type

protein coding gene
IDs

MGI:1922004
NCBI Gene: 74754
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

Chr4:106418235-106446310 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 49.67 cM, cytoband C7
Mapping Data

2 experiments

SNPs within 2kb

120 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1922004	protein coding gene	Chr4:106418235-106446310 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0028520	protein coding gene	Chr4:107186104-107217307 (+)
A/J	MGP_AJ_G0028483	protein coding gene	Chr4:103365094-103393864 (+)
AKR/J	MGP_AKRJ_G0028430	protein coding gene	Chr4:105877168-105905449 (+)
BALB/cJ	MGP_BALBcJ_G0028502	protein coding gene	Chr4:103552550-103580899 (+)
C3H/HeJ	MGP_C3HHeJ_G0028216	protein coding gene	Chr4:106630651-106660365 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028942	protein coding gene	Chr4:111058498-111090420 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026233	protein coding gene	Chr4:98640493-98668239 (+)
CAST/EiJ	MGP_CASTEiJ_G0027652	protein coding gene	Chr4:104423881-104463566 (+)
CBA/J	MGP_CBAJ_G0028185	protein coding gene	Chr4:114644846-114672832 (+)
DBA/2J	MGP_DBA2J_G0028333	protein coding gene	Chr4:102981382-103010199 (+)
FVB/NJ	MGP_FVBNJ_G0028301	protein coding gene	Chr4:101839117-101867151 (+)
LP/J	MGP_LPJ_G0028434	protein coding gene	Chr4:107384751-107418150 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028327	protein coding gene	Chr4:119974546-120007624 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028978	protein coding gene	Chr4:106124643-106154070 (+)
PWK/PhJ	MGP_PWKPhJ_G0027378	protein coding gene	Chr4:101215435-101253879 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0027202	protein coding gene	Chr4:103503023-103533187 (+)
WSB/EiJ	MGP_WSBEiJ_G0027733	protein coding gene	Chr4:106299017-106328056 (+)

Human Ortholog

DHCR24, 24-dehydrocholesterol reductase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DHCR24, 24-dehydrocholesterol reductase
Synonyms

DCE, Nbla03646, seladin-1, SELADIN1
Links

HGNC:2859

NCBI Gene ID: 1718

neXtProt AC: NX_Q15392

UniProt: Q15392
Chr Location

1p32.3; chr1:54849627-54887248 (-) GRCh38.p7

Alliance of Genome Resources

Dhcr24 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DHCR24
Gene Tree

Dhcr24

Diseases

1 with human DHCR24 associations

				Human Disease	Mouse Models
				lipid metabolism disorder IDs lipid metabolism disorder DOID:3146 MESH:D008052 UMLS_CUI:C0023772

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

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Phenotype Summary

19 phenotypes from 3 alleles in 5 genetic backgrounds
24 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

21
Chemically induced (other)

2
Endonuclease-mediated

2
Gene trapped

11
Radiation induced

1
Targeted

5
Genomic Mutations

4 involving Dhcr24
Incidental Mutations

APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

In spite of having almost no plasma or tissue cholesterol, homozygous mutant mice are largely viable and display a mild growth phenotype. Inactivation did impair prenatal viability as well as infertility.

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All GO Annotations

44
GO References

11

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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

1107
Tissues

173
cDNA Data

147
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dhcr24

ZFIN dhcr24

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Dhcr24 interacts with 235 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

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All Sequences

34
RefSeq

2
UniProt

1
CCDS

CCDS18420.1

Ensembl

ENSMUSG00000034926 (Evidence)
NCBI Gene

74754

			Length	Strain/Species	Flank
genomic	74754	NCBI Gene Model \| MGI Sequence Detail	28076	C57BL/6J	± kb
transcript	NM_053272	RefSeq \| MGI Sequence Detail	4028	Not Specified
polypeptide	Q8VCH6	UniProt \| EBI \| MGI Sequence Detail	516	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000006453 Delta(24)-sterol reductase

(term hierarchy)
EC

1.3.1.72
InterPro Domains

IPR040165 Delta(24)-sterol reductase

IPR016166 FAD-binding domain, PCMH-type

IPR036318 FAD-binding, type PCMH-like superfamily

IPR016169 FAD-binding, type PCMH, subdomain 2

IPR006094 FAD linked oxidase, N-terminal

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All nucleic 151

cDNA 148

Primer pair 3

Microarray probesets 4

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MGI:1922840

Summaries

All 61

Developmental Gene Expression 9

Gene Ontology 11

Phenotypes 24
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:304449 Kanuri B, et al., Generation and validation of a conditional knockout mouse model for desmosterolosis. J Lipid Res. 2021 Jan 30;62:100028

TSS for Dhcr24:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr38176	Chr4:106418224-106418235 (+)	-5 bp
Tssr38177	Chr4:106418242-106418262 (+)	17 bp
Tssr38178	Chr4:106418271-106418296 (+)	49 bp
Tssr38179	Chr4:106435456-106435470 (+)	17,228 bp
Tssr38180	Chr4:106438986-106438998 (+)	20,757 bp
Tssr38181	Chr4:106444469-106444493 (+)	26,246 bp
Tssr38182	Chr4:106444659-106444679 (+)	26,434 bp
Tssr38183	Chr4:106446165-106446174 (+)	27,935 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 & Copyright Notice Send questions and comments to User Support.	last database update 08/09/2022 MGI 6.21