Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5191
Gene name Gene Name - the full gene name approved by the HGNC.	Peroxisomal biogenesis factor 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PEX7
Synonyms (NCBI Gene) Gene synonyms aliases	PBD9B, PTS2R, RCDP1, RD
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multipl

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1805137	T>A	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, stop lost, terminator codon variant
rs61753233	A>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs61753236	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs61753237	A>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant
rs61753238	C>A,G,T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs61753245	G>A	Pathogenic-likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs61753248	T>-	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs62636519	->TGCGGTG	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs62653604	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs62653611	A>G	Pathogenic	Coding sequence variant, missense variant
rs63535662	GGGACGCC>-,GGGACGCCGGGACGCC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, upstream transcript variant
rs113268723	A>C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs121909151	C>T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909152	G>A	Pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121909153	C>T	Pathogenic	Intron variant, coding sequence variant, stop gained
rs121909154	T>G	Pathogenic-likely-pathogenic, pathogenic	Intron variant, coding sequence variant, stop gained
rs148591292	G>C	Pathogenic	Splice donor variant
rs191969418	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs199552223	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs199648976	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs267608252	C>T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs267608253	G>A,C,T	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs267608254	G>A,C	Pathogenic	Splice donor variant
rs267608255	A>G	Uncertain-significance, pathogenic, likely-pathogenic	Intron variant
rs267608257	->CAA	Likely-pathogenic	Coding sequence variant, inframe insertion
rs374668045	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs763514968	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs764346452	G>A,C,T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs764924345	C>T	Likely-pathogenic	Intron variant, coding sequence variant, stop gained
rs769137963	G>A,T	Likely-pathogenic	Intron variant, coding sequence variant, stop gained, missense variant
rs774131564	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs778862698	A>G,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs886061118	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs936175997	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs1057516574	->T	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516737	C>G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, stop gained
rs1057516824	GGCCTCTTGCT>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516827	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057516882	C>G	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, stop gained
rs1057516961	ATGCTGCGGACGCCGGGACGCCACGG>-	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs1057516989	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1057517059	T>C	Likely-pathogenic	Splice donor variant
rs1057517257	AGGAGGGTGAAAGTAAGTTTTCATCTTTT>-	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1057517339	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1131691868	G>T	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs1190462422	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1464766327	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554328790	A>G	Likely-pathogenic	Splice acceptor variant
rs1554328952	A>G	Likely-pathogenic	Splice acceptor variant
rs1554331461	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554333636	C>-	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1554333880	T>C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1554335926	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554335937	GGTT>-	Likely-pathogenic	Coding sequence variant, stop gained, frameshift variant
rs1582732852	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582744649	AACCAGAGGTGAACAGCTTGTGGTGTCTGGCTCATGGGATCAAACTGTCAAATTGGTATGTTAGCATTATTGTATTCAAAAACGAATATTCCCTTCTCTAGAGCTTCCACTAAATTTTCTTCTCTTTTTCCAACATACTTCTGTAGCTCTATGATTCGACAGCTGAGCTTTCTTTTAAAAAAAAAATTAAAACACTTATTAGAACTTAAAATTTTCTAATCTTTTGGCTGTGAACTAATAGTTAGCTCAGCATTA	Likely-pathogenic	Intron variant, coding sequence variant, splice acceptor variant, splice donor variant
rs1582757650	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1582760004	->T	Likely-pathogenic	Stop gained, coding sequence variant, intron variant

Show/Hide all(58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT543256	hsa-miR-548n	PAR-CLIP	21572407
MIRT543255	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT543254	hsa-miR-548ab	PAR-CLIP	21572407
MIRT543253	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT543252	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT543251	hsa-miR-548ak	PAR-CLIP	21572407
MIRT543250	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT543249	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT543248	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT543247	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT543246	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT543245	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT543244	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT543243	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT543242	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT543241	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT543240	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT543239	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT543238	hsa-miR-548i	PAR-CLIP	21572407
MIRT543237	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT543236	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT543235	hsa-miR-548w	PAR-CLIP	21572407
MIRT543234	hsa-miR-548y	PAR-CLIP	21572407
MIRT543233	hsa-miR-559	PAR-CLIP	21572407
MIRT543232	hsa-miR-4263	PAR-CLIP	21572407
MIRT543231	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT543256	hsa-miR-548n	PAR-CLIP	21572407
MIRT543255	hsa-miR-548a-5p	PAR-CLIP	21572407
MIRT543254	hsa-miR-548ab	PAR-CLIP	21572407
MIRT543253	hsa-miR-548ad-5p	PAR-CLIP	21572407
MIRT543252	hsa-miR-548ae-5p	PAR-CLIP	21572407
MIRT543251	hsa-miR-548ak	PAR-CLIP	21572407
MIRT543250	hsa-miR-548am-5p	PAR-CLIP	21572407
MIRT543249	hsa-miR-548ap-5p	PAR-CLIP	21572407
MIRT543248	hsa-miR-548aq-5p	PAR-CLIP	21572407
MIRT543247	hsa-miR-548ar-5p	PAR-CLIP	21572407
MIRT543246	hsa-miR-548as-5p	PAR-CLIP	21572407
MIRT543245	hsa-miR-548au-5p	PAR-CLIP	21572407
MIRT543244	hsa-miR-548ay-5p	PAR-CLIP	21572407
MIRT543243	hsa-miR-548b-5p	PAR-CLIP	21572407
MIRT543242	hsa-miR-548bb-5p	PAR-CLIP	21572407
MIRT543241	hsa-miR-548c-5p	PAR-CLIP	21572407
MIRT543240	hsa-miR-548d-5p	PAR-CLIP	21572407
MIRT543239	hsa-miR-548h-5p	PAR-CLIP	21572407
MIRT543238	hsa-miR-548i	PAR-CLIP	21572407
MIRT543237	hsa-miR-548j-5p	PAR-CLIP	21572407
MIRT543236	hsa-miR-548o-5p	PAR-CLIP	21572407
MIRT543235	hsa-miR-548w	PAR-CLIP	21572407
MIRT543234	hsa-miR-548y	PAR-CLIP	21572407
MIRT543233	hsa-miR-559	PAR-CLIP	21572407
MIRT543232	hsa-miR-4263	PAR-CLIP	21572407
MIRT543231	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT1226060	hsa-miR-3074-3p	CLIP-seq
MIRT1226061	hsa-miR-34c-3p	CLIP-seq
MIRT1226062	hsa-miR-3646	CLIP-seq
MIRT1226063	hsa-miR-3662	CLIP-seq
MIRT1226064	hsa-miR-548c-3p	CLIP-seq
MIRT2293724	hsa-miR-3924	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0005053	Function	Peroxisome matrix targeting signal-2 binding	IBA
GO:0005053	Function	Peroxisome matrix targeting signal-2 binding	IDA	9090381, 9090383, 11931631, 22057399, 25538232
GO:0005053	Function	Peroxisome matrix targeting signal-2 binding	IEA
GO:0005515	Function	Protein binding	IPI	11546814, 25538232, 28514442, 30204880, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005777	Component	Peroxisome	IDA	9090382
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005782	Component	Peroxisomal matrix	IBA
GO:0005782	Component	Peroxisomal matrix	IDA	11546814, 25538232
GO:0005782	Component	Peroxisomal matrix	IDA	11931631
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	25538232
GO:0005829	Component	Cytosol	IDA	11931631
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0007031	Process	Peroxisome organization	IMP	10022913
GO:0008611	Process	Ether lipid biosynthetic process	IMP	9090383, 12522768
GO:0015031	Process	Protein transport	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IBA
GO:0016558	Process	Protein import into peroxisome matrix	IDA	9090381
GO:0016558	Process	Protein import into peroxisome matrix	IDA	11546814, 22057399, 25538232
GO:0016558	Process	Protein import into peroxisome matrix	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IEA
GO:0016558	Process	Protein import into peroxisome matrix	IMP	12522768
GO:0019899	Function	Enzyme binding	IPI	11931631
GO:0042803	Function	Protein homodimerization activity	IDA	11931631

MIM	HGNC	e!Ensembl
601757	8860	ENSG00000112357

Protein

UniProt ID

O00628

Protein name

Peroxisomal targeting signal 2 receptor (PTS2 receptor) (Peroxin-7)

Protein function

Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:11931631, PubMed:22057399, PubMed:25538232, PubMed:9090381). Specifically binds to cargo proteins containing a PTS2 p

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	58 → 96	WD domain, G-beta repeat	Repeat
PF00400	WD40	101 → 141	WD domain, G-beta repeat	Repeat
PF00400	WD40	145 → 184	WD domain, G-beta repeat	Repeat
PF00400	WD40	232 → 271	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (PubMed:9090381). Highest expression in pancreas, skeletal muscle and heart (PubMed:9090381). {ECO:0000269|PubMed:9090381}.

Sequence

MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRL
FRSFDWNDGLFDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWS
QTRGEQLVVSGSWDQTVKLWDPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTL
RIWDVKAAGVRIVIPAHQAEILSCDWCKYNENLLVTGAVDCSLRGWDLRNVRQPVFELLG
HTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLETVEHHTEFTCGLDFSLQSPT
QVADCSWDETIKIYDPACLTIPA

Sequence length

323

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		Peroxisomal protein import

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Connective Tissue Disease	Connective tissue disorder	rs763514968	N/A
rhizomelic chondrodysplasia punctata	Rhizomelic chondrodysplasia punctata	rs121909153, rs763514968, rs121909151, rs61753248, rs62636519, rs148591292, rs121909152, rs121909154	N/A
Rhizomelic Chondrodysplasia Punctata	rhizomelic chondrodysplasia punctata type 1	rs1057516574, rs61753238, rs1554335926, rs763514968, rs267608253, rs1057516989, rs1805137, rs1554328952, rs774131564, rs63535662, rs61753233, rs1582732852, rs1057517257, rs121909151, rs61753248 View all (27 more)	N/A
Zellweger Syndrome	Peroxisome biogenesis disorder 9B	rs61753245, rs61753233, rs763514968, rs1582744649, rs1057516989, rs1805137, rs1554328952, rs774131564, rs63535662, rs267608252, rs62636519, rs1057517257, rs121909151, rs61753248, rs148591292 View all (17 more)	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Refsum Disease	adult Refsum disease	N/A	N/A	GenCC
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Astigmatism	Associate	30747064
Ataxia	Associate	12522768
Chondrodysplasia Punctata Rhizomelic	Associate	12522768, 25439727, 34110102, 34229749, 8670791, 9472033
Infections	Associate	34524914
Myopia Degenerative	Associate	30747064
Neoplasms	Associate	37379307
Peroxisomal Disorders	Associate	12522768, 8670791
Polyneuropathies	Associate	12522768
Refsum Disease	Associate	12522768
Rhizomelic chondrodysplasia punctata type 1	Associate	12522768, 25800479

PEX7 (peroxisomal biogenesis factor 7)