Pdia6 MGI Mouse Gene Detail - MGI:1919103 - protein disulfide isomerase associated 6

Symbol

Pdia6
Name

protein disulfide isomerase associated 6
Synonyms

1700015E05Rik, CaBP5, P5, Txndc7

Feature Type

protein coding gene
IDs

MGI:1919103
NCBI Gene: 71853
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr12:17316590-17334786 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 8.06 cM
Mapping Data

3 experiments

SNPs within 2kb

596 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919103	protein coding gene	Chr12:17316546-17334786 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019617	protein coding gene	Chr12:14692926-14711186 (+)
A/J	MGP_AJ_G0019584	protein coding gene	Chr12:14173401-14191603 (+)
AKR/J	MGP_AKRJ_G0019554	protein coding gene	Chr12:14842611-14860858 (+)
BALB/cJ	MGP_BALBcJ_G0019560	protein coding gene	Chr12:14418265-14436479 (+)
C3H/HeJ	MGP_C3HHeJ_G0019365	protein coding gene	Chr12:14742722-14760962 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020008	protein coding gene	Chr12:15174344-15192539 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017634	protein coding gene	Chr12:13667796-13686325 (+)
CAST/EiJ	MGP_CASTEiJ_G0018920	protein coding gene	Chr12:14640017-14659413 (+)
CBA/J	MGP_CBAJ_G0019336	protein coding gene	Chr12:16004334-16022584 (+)
DBA/2J	MGP_DBA2J_G0019449	protein coding gene	Chr12:14086741-14105001 (+)
FVB/NJ	MGP_FVBNJ_G0019440	protein coding gene	Chr12:13971321-13989580 (+)
LP/J	MGP_LPJ_G0019520	protein coding gene	Chr12:14809385-14827828 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019475	protein coding gene	Chr12:15872207-15890486 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020047	protein coding gene	Chr12:14525332-14543592 (+)
PWK/PhJ	MGP_PWKPhJ_G0018686	protein coding gene	Chr12:14126362-14144900 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018476	protein coding gene	Chr12:14721988-14740326 (+)
WSB/EiJ	MGP_WSBEiJ_G0018971	protein coding gene	Chr12:14653373-14671617 (+)

Human Ortholog

PDIA6, protein disulfide isomerase family A member 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PDIA6, protein disulfide isomerase family A member 6
Synonyms

ERP5, P5, TXNDC7
Links

HGNC:30168

NCBI Gene ID: 10130

neXtProt AC: NX_Q15084

UniProt: Q15084
Chr Location

2p25.1; chr2:10783391-10837977 (-) GRCh38

MGI Vertebrate Homology

Pdia6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PDIA6
Gene Tree

Pdia6

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Phenotype Summary

38 phenotypes from 3 alleles in 4 genetic backgrounds
14 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

24
Chemically induced (ENU)

2
Endonuclease-mediated

5
Gene trapped

14
Targeted

3
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit preweaning lethality. Mice homozygous for a hypomorphic allele exhibit reduced body weight and impaired T cell-independent and dependent antibody responses.

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All GO Annotations

19
GO References

7

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

724
Tissues

6
cDNA Data

498
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 pdia6

ZFIN pdia6

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All Sequences

59
RefSeq

2
UniProt

5
CCDS

CCDS25826.1

Ensembl

ENSMUSG00000020571 (Evidence)
NCBI Gene

71853

			Length	Strain/Species	Flank
genomic	71853	NCBI Gene Model \| MGI Sequence Detail	18197	C57BL/6J	± kb
transcript	NM_027959	RefSeq \| MGI Sequence Detail	2146	C57BL/6
polypeptide	Q922R8	UniProt \| EBI \| MGI Sequence Detail	440	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000012501 protein disulfide-isomerase A6

(term hierarchy)
PDB

2DML
EC

5.3.4.1
InterPro Domains

IPR005788 Protein disulfide-isomerase, thioredoxin-like domain

IPR017937 Thioredoxin, conserved site

IPR013766 Thioredoxin domain

IPR036249 Thioredoxin-like superfamily
GlyGen

Q922R8 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 501

cDNA 499

Primer pair 2

Microarray probesets 5

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MGI:2141538, MGI:2145086

Summaries

All 55

Developmental Gene Expression 6

Gene Ontology 7

Phenotypes 14
Earliest

J:54354 Ferrari DM, et al., The protein disulphide-isomerase family: unravelling a string of folds. Biochem J. 1999 Apr 1;339(Pt 1):1-10
Latest

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

TSS for Pdia6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr112875	Chr12:17316572-17316602 (+)	-3 bp
Tssr112876	Chr12:17316610-17316619 (+)	25 bp
Tssr112877	Chr12:17324449-17324466 (+)	7,868 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