Pdia3 MGI Mouse Gene Detail - MGI:95834 - protein disulfide isomerase associated 3

Symbol

Pdia3
Name

protein disulfide isomerase associated 3
Synonyms

Erp, ERp57, ERp60, ERp61, Grp58, PDI, PDI-Q2, Plca

Feature Type

protein coding gene
IDs

MGI:95834
NCBI Gene: 14827
Alliance

gene page
Transcription Start Sites

17 TSS

Sequence Map

Chr2:121244383-121269168 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 60.38 cM
Mapping Data

2 experiments

SNPs within 2kb

547 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_95834	protein coding gene	Chr2:121244256-121269168 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026391	protein coding gene	Chr2:124311040-124341601 (+)
A/J	MGP_AJ_G0026352	protein coding gene	Chr2:119227355-119256738 (+)
AKR/J	MGP_AKRJ_G0026331	protein coding gene	Chr2:122574937-122602753 (+)
BALB/cJ	MGP_BALBcJ_G0026365	protein coding gene	Chr2:119460650-119486495 (+)
C3H/HeJ	MGP_C3HHeJ_G0026111	protein coding gene	Chr2:123053583-123082529 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026812	protein coding gene	Chr2:128383865-128410784 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024192	protein coding gene	Chr2:114273378-114297348 (+)
CAST/EiJ	MGP_CASTEiJ_G0025573	protein coding gene	Chr2:123380470-123408778 (+)
CBA/J	MGP_CBAJ_G0026087	protein coding gene	Chr2:132848585-132880444 (+)
DBA/2J	MGP_DBA2J_G0026226	protein coding gene	Chr2:118623360-118655331 (+)
FVB/NJ	MGP_FVBNJ_G0026188	protein coding gene	Chr2:117447567-117474773 (+)
LP/J	MGP_LPJ_G0026327	protein coding gene	Chr2:124561460-124588084 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026207	protein coding gene	Chr2:137121798-137158549 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026867	protein coding gene	Chr2:122688829-122713289 (+)
PWK/PhJ	MGP_PWKPhJ_G0025309	protein coding gene	Chr2:118235792-118261736 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025108	protein coding gene	Chr2:121895611-121919949 (+)
WSB/EiJ	MGP_WSBEiJ_G0025642	protein coding gene	Chr2:123514560-123540985 (+)

Human Ortholog

PDIA3, protein disulfide isomerase family A member 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PDIA3, protein disulfide isomerase family A member 3
Synonyms

ER60, ERp57, ERp60, ERp61, GRP57, GRP58, HEL-S-269, HEL-S-93n, HsT17083, P58, PI-PLC
Links

HGNC:4606

NCBI Gene ID: 2923

neXtProt AC: NX_P30101

UniProt: P30101
Chr Location

15q15.3; chr15:43746394-43773279 (+) GRCh38

MGI Vertebrate Homology

Pdia3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PDIA3
Gene Tree

Pdia3

Diseases

1 with human PDIA3 associations

				Human Disease	Mouse Models
				autoimmune hepatitis IDs autoimmune hepatitis DOID:2048 DOID:4745 ICD9CM:571.42 MESH:D019693 NCI:C27778 UMLS_CUI:C0241910 UMLS_CUI:C1332355

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

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Phenotype Summary

11 phenotypes from 5 alleles in 4 genetic backgrounds
31 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

28
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

17
Radiation induced

1
Targeted

5
Genomic Mutations

2 involving Pdia3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele die by E13.5 with minor changes in ER calcium capacity and unfolded protein response in mouse embryonic fibroblasts. Mice homozygous for a gene trap allele die prior to birth while heterozygous mice exhibit abnormalbone volume bone morphology.

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All GO Annotations

45
GO References

18

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

763
Tissues

54
cDNA Data

347
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA PDIA3

Xenbase pdia3

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All Sequences

43
RefSeq

2
UniProt

2
CCDS

CCDS16643.1

Ensembl

ENSMUSG00000027248 (Evidence)
NCBI Gene

14827

			Length	Strain/Species	Flank
genomic	14827	NCBI Gene Model \| MGI Sequence Detail	24786	C57BL/6J	± kb
transcript	NM_007952	RefSeq \| MGI Sequence Detail	2658	ZRU/MplStud
polypeptide	P27773	UniProt \| EBI \| MGI Sequence Detail	505	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000012498 protein disulfide-isomerase A3

(term hierarchy)
EC

5.3.4.1
InterPro Domains

IPR041868 Protein disulfide-isomerase A3, first redox inactive TRX-like domain b

IPR005788 Protein disulfide-isomerase, thioredoxin-like domain

IPR005792 Protein disulphide isomerase

IPR017937 Thioredoxin, conserved site

IPR013766 Thioredoxin domain

IPR036249 Thioredoxin-like superfamily
GlyGen

P27773 1 site, 1 O-linked glycan (1 site)

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All nucleic 350

cDNA 347

Primer pair 3

Microarray probesets 4

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MGD-MRK-10274, MGD-MRK-31042, MGI:104969, MGI:891994

Summaries

All 110

Developmental Gene Expression 13

Gene Ontology 18

Phenotypes 31
Earliest

J:5518 Kirby GC, The genetics of an electrophoretic variant of an erythrocytic protein in the house mouse (Mus musculus). Anim Blood Groups Biochem Genet. 1974;5(3):153-7
Latest

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

TSS for Pdia3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr624	Chr2:121244408-121244411 (+)	27 bp
Tssr19755	Chr2:121244414-121244440 (+)	44 bp
Tssr19756	Chr2:121244446-121244451 (+)	66 bp
Tssr19757	Chr2:121245122-121245132 (+)	744 bp
Tssr19758	Chr2:121252921-121252974 (+)	8,565 bp
Tssr19759	Chr2:121255033-121255061 (+)	10,664 bp
Tssr19760	Chr2:121255063-121255074 (+)	10,686 bp
Tssr19761	Chr2:121259930-121260021 (+)	15,593 bp
Tssr19762	Chr2:121261352-121261354 (+)	16,970 bp
Tssr19763	Chr2:121262129-121262142 (+)	17,753 bp
Tssr19764	Chr2:121262792-121262830 (+)	18,428 bp
Tssr19765	Chr2:121263996-121264018 (+)	19,624 bp
Tssr19766	Chr2:121264456-121264492 (+)	20,091 bp
Tssr19767	Chr2:121266392-121266403 (+)	22,015 bp
Tssr19768	Chr2:121266836-121266845 (+)	22,458 bp
Tssr19769	Chr2:121268088-121268127 (+)	23,725 bp
Tssr19770	Chr2:121268386-121268427 (+)	24,024 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)
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