Srd5a2 MGI Mouse Gene Detail - MGI:2150380 - steroid 5 alpha-reductase 2

Symbol

Srd5a2
Name

steroid 5 alpha-reductase 2
Synonyms

5ART2

Feature Type

protein coding gene
IDs

MGI:2150380
NCBI Gene: 94224
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

Chr17:74323950-74354911 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 45.39 cM, cytoband E2
Mapping Data

1 experiment

SNPs within 2kb

918 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2150380	protein coding gene	Chr17:74321886-74354911 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024023	protein coding gene	Chr17:76608655-76640363 (-)
A/J	MGP_AJ_G0023981	protein coding gene	Chr17:74279170-74309895 (-)
AKR/J	MGP_AKRJ_G0023950	protein coding gene	Chr17:75336550-75366301 (-)
BALB/cJ	MGP_BALBcJ_G0023982	protein coding gene	Chr17:74183087-74215168 (-)
C3H/HeJ	MGP_C3HHeJ_G0023746	protein coding gene	Chr17:76272222-76305613 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0024428	protein coding gene	Chr17:79383528-79415780 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021872	protein coding gene	Chr17:69946387-69975043 (-)
CAST/EiJ	MGP_CASTEiJ_G0023227	protein coding gene	Chr17:76751030-76783605 (-)
CBA/J	MGP_CBAJ_G0023721	protein coding gene	Chr17:82674633-82710424 (-)
DBA/2J	MGP_DBA2J_G0023850	protein coding gene	Chr17:72884215-72913816 (-)
FVB/NJ	MGP_FVBNJ_G0023816	protein coding gene	Chr17:72380702-72410312 (-)
LP/J	MGP_LPJ_G0023932	protein coding gene	Chr17:77373175-77404871 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023844	protein coding gene	Chr17:82477096-82509457 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024472	protein coding gene	Chr17:75829815-75859476 (-)
PWK/PhJ	MGP_PWKPhJ_G0022973	protein coding gene	Chr17:72247929-72277657 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022784	protein coding gene	Chr17:72503251-72538842 (-)
WSB/EiJ	MGP_WSBEiJ_G0023294	protein coding gene	Chr17:76683850-76714732 (-)

Human Ortholog

SRD5A2, steroid 5 alpha-reductase 2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SRD5A2, steroid 5 alpha-reductase 2
Links

HGNC:11285

NCBI Gene ID: 6716

neXtProt AC: NX_P31213

UniProt: P31213
Chr Location

2p23.1; chr2:31522480-31663009 (-) GRCh38

MGI Vertebrate Homology

Srd5a2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SRD5A2
Protein SuperFamily

5_alpha-SR2
Gene Tree

Srd5a2

Diseases

2 with human SRD5A2 associations

				Human Disease	Mouse Models
				hypospadias IDs hypospadias DOID:10892 ICD10CM:Q54 MESH:D007021 NCI:C40341 OMIM:146450 OMIM:300633 OMIM:300758 OMIM:300856 ORDO:440 UMLS_CUI:C0848558
				prostate cancer IDs prostate cancer DOID:10283 DOID:514 ICD10CM:C61 ICD9CM:185 KEGG:05215 MESH:D011471 NCI:C3343 NCI:C7378 OMIM:176807 OMIM:300147 OMIM:300704 OMIM:601518 OMIM:602759 OMIM:608656 OMIM:608658 OMIM:609299 OMIM:609558 OMIM:610321 OMIM:610997 OMIM:611100 OMIM:611868 OMIM:611928 OMIM:611955 OMIM:611958 OMIM:611959 ORDO:1331 UMLS_CUI:C0033578 UMLS_CUI:C0376358

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

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Phenotype Summary

8 phenotypes from 2 alleles in 2 genetic backgrounds
5 phenotypes from multigenic genotypes
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

4
Endonuclease-mediated

1
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mutant males are fertile, but have small prostates and seminal vesicles, elevated testosterone in reproductive tissue and decreased androgen-dependent gene expression. Mutant females exhibit no detectable abnormality.

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All GO Annotations

50
GO References

12

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	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

1136
Tissues

322
cDNA Data

7
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase srd5a2

ZFIN srd5a2a, srd5a2b

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All Sequences

28
RefSeq

2
UniProt

1
CCDS

CCDS28968.1

Ensembl

ENSMUSG00000038541 (Evidence)
NCBI Gene

94224

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038541	Ensembl Gene Model \| MGI Sequence Detail	30962	C57BL/6J	± kb
transcript	ENSMUST00000043458	Ensembl \| MGI Sequence Detail	1605	Not Applicable
polypeptide	ENSMUSP00000048862	Ensembl \| MGI Sequence Detail	254	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000015608 3-oxo-5-alpha-steroid 4-dehydrogenase 2

(term hierarchy)
EC

1.3.1.22
InterPro Domains

IPR016636 3-oxo-5-alpha-steroid 4-dehydrogenase

IPR001104 3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal

IPR039357 3-oxo-5-alpha-steroid 4-dehydrogenase/very-long-chain enoyl-CoA reductase

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All nucleic 10

cDNA 7

Primer pair 3

Microarray probesets 2

Summaries

All 42

Developmental Gene Expression 6

Gene Ontology 12

Phenotypes 10
Earliest

J:72807 Mahendroo MS, et al., Unexpected virilization in male mice lacking steroid 5alpha-reductase enzymes. Endocrinology. 2001 Nov;142(11):4652-62
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Srd5a2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr149345	Chr17:74354845-74354862 (-)	57 bp
Tssr149344	Chr17:74328454-74328477 (-)	26,445 bp
Tssr149343	Chr17:74324456-74324466 (-)	30,450 bp
Tssr149342	Chr17:74324350-74324356 (-)	30,558 bp
Tssr149341	Chr17:74324194-74324203 (-)	30,712 bp
Tssr149340	Chr17:74324138-74324145 (-)	30,769 bp
Tssr149339	Chr17:74324096-74324105 (-)	30,810 bp
Tssr149338	Chr17:74324065-74324072 (-)	30,842 bp
Tssr149337	Chr17:74324035-74324036 (-)	30,875 bp
Tssr149336	Chr17:74323993-74324001 (-)	30,914 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 10/22/2024 MGI 6.24