Pex6 MGI Mouse Gene Detail - MGI:2385054 - peroxisomal biogenesis factor 6

Symbol

Pex6
Name

peroxisomal biogenesis factor 6
Synonyms

D130055I09Rik, MGC:6455

Feature Type

protein coding gene
IDs

MGI:2385054
NCBI Gene: 224824
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr17:47022402-47036469 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 22.90 cM
Mapping Data

3 experiments

SNPs within 2kb

444 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2385054	protein coding gene	Chr17:47022389-47036469 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023829	protein coding gene	Chr17:47797028-47813154 (+)
A/J	MGP_AJ_G0023787	protein coding gene	Chr17:46644848-46659099 (+)
AKR/J	MGP_AKRJ_G0023758	protein coding gene	Chr17:46992705-47006704 (+)
BALB/cJ	MGP_BALBcJ_G0023791	protein coding gene	Chr17:46545278-46559307 (+)
C3H/HeJ	MGP_C3HHeJ_G0023554	protein coding gene	Chr17:47737644-47751704 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024234	protein coding gene	Chr17:49847363-49861403 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021684	protein coding gene	Chr17:43427076-43440666 (+)
CAST/EiJ	MGP_CASTEiJ_G0023036	protein coding gene	Chr17:47825821-47841489 (+)
CBA/J	MGP_CBAJ_G0023531	protein coding gene	Chr17:51642918-51659841 (+)
DBA/2J	MGP_DBA2J_G0023657	protein coding gene	Chr17:45414724-45428925 (+)
FVB/NJ	MGP_FVBNJ_G0023624	protein coding gene	Chr17:45037172-45058600 (+)
LP/J	MGP_LPJ_G0023738	protein coding gene	Chr17:48475119-48489239 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023653	protein coding gene	Chr17:51181045-51195137 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024279	protein coding gene	Chr17:47343513-47358445 (+)
PWK/PhJ	MGP_PWKPhJ_G0022780	protein coding gene	Chr17:44755399-44770290 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022596	protein coding gene	Chr17:44227115-44242940 (+)
WSB/EiJ	MGP_WSBEiJ_G0023101	protein coding gene	Chr17:47899965-47916478 (+)

Human Ortholog

PEX6, peroxisomal biogenesis factor 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PEX6, peroxisomal biogenesis factor 6
Synonyms

HMLR2, PAF-2, PAF2, PBD4A, PDB4B, PXAAA1
Links

HGNC:8859

NCBI Gene ID: 5190

neXtProt AC: NX_Q13608

UniProt: Q13608
Chr Location

6p21.1; chr6:42963865-42979181 (-) GRCh38

MGI Vertebrate Homology

Pex6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PEX6
Gene Tree

Pex6

Diseases

3 with human PEX6 associations

				Human Disease	Mouse Models
				Heimler syndrome 2 IDs Heimler syndrome 2 DOID:0080624 OMIM:616617
				peroxisome biogenesis disorder 4A IDs peroxisome biogenesis disorder 4A DOID:0080479 OMIM:614862
				Peroxisome biogenesis disorder 4B IDs Peroxisome biogenesis disorder 4B DOID:0081433 OMIM:614863

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

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Phenotype Summary

7 phenotypes from 2 alleles in 2 genetic backgrounds
7 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

5
Endonuclease-mediated

3
Targeted

2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

38
GO References

8

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

713
Tissues

7
cDNA Data

10
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pex6

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All Sequences

59
RefSeq

3
UniProt

3
CCDS

CCDS28837.1

Ensembl

ENSMUSG00000002763 (Evidence)
NCBI Gene

224824

			Length	Strain/Species	Flank
genomic	224824	NCBI Gene Model \| MGI Sequence Detail	14068	C57BL/6J	± kb
transcript	NR_157369	RefSeq \| MGI Sequence Detail	3372	C57BL/6
polypeptide	Q99LC9	UniProt \| EBI \| MGI Sequence Detail	981	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000012567 peroxisomal ATPase PEX6

(term hierarchy)
EC

3.6.4.-
InterPro Domains

IPR003593 AAA+ ATPase domain

IPR050168 AAA ATPase domain-containing protein

IPR003960 ATPase, AAA-type, conserved site

IPR003959 ATPase, AAA-type, core

IPR047533 Peroxisomal biogenesis factor 6, second ATPase domain

IPR027417 P-loop containing nucleoside triphosphate hydrolase

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All nucleic 11

cDNA 10

Primer pair 1

Microarray probesets 8

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MGI:2146801, MGI:2445130

Summaries

All 37

Developmental Gene Expression 2

Gene Ontology 8

Phenotypes 7
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

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

TSS for Pex6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr144877	Chr17:47022385-47022423 (+)	2 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 11/12/2024 MGI 6.24