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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5191
Gene name	Peroxisomal biogenesis factor 7
Gene symbol	PEX7
Synonyms (NCBI Gene)	PBD9BPTS2RRCDP1RD
Chromosome	6
Chromosome location	6q23.3
Summary	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

Show/Hide all (58)

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

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

873

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic	rs2115131765	RCV001814330
Connective tissue disorder	Likely pathogenic; Pathogenic	rs763514968	RCV002278634
Intermediate form of PEX7 related rhizomelic chondrodysplasia punctata	Likely pathogenic	rs2115216571	RCV001420996
Melanoma	Likely pathogenic	rs780751870	RCV005925481
Nonpapillary renal cell carcinoma	Likely pathogenic	rs778862698	RCV005900634
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs267608256	RCV005931309
Peroxisome biogenesis disorder	Pathogenic	rs1774596232	RCV005637008
Peroxisome biogenesis disorder 9B	Likely pathogenic; Pathogenic	rs2115129048, rs1774102216, rs2115170460, rs2115171634, rs2115273041, rs2115170536, rs1173171051, rs2115122515, rs774676095, rs2115171791, rs2115122957, rs2115216632, rs780751870, rs61753240, rs267608254 View all (67 more)	RCV001379182 RCV001380524 RCV001388002 RCV001389731 RCV001386552 RCV002034680 RCV002012339 RCV001897855 RCV002006105 RCV001943863 RCV002000126 RCV001942269 RCV002003038 RCV001988512 RCV001068245 RCV003474894 RCV001380052 RCV003060086 RCV002602803 RCV002609655 RCV002801828 RCV002846489 RCV002876448 RCV002872659 RCV002982298 RCV003027768 RCV000490306 RCV000380952 RCV000032925 RCV000454287 RCV001064035 RCV000032589 RCV005003344 RCV000008228 RCV000008230 RCV000008233 RCV003476858 RCV003476859 RCV003476860 RCV003476861 RCV003476862 RCV003476863 RCV003476864 RCV003476865 RCV003476866 RCV003476867 RCV003476868 RCV003536386 RCV003536317 RCV003536499 RCV003536403 RCV003536580 RCV003536968 RCV003651128 RCV003651109 RCV003651276 RCV003652601 RCV003652684 RCV004574518 RCV004574519 RCV004574520 RCV004574521 RCV004574522 RCV004574523 RCV000008232 RCV004567883 RCV001387967 RCV003475974 RCV002523861 RCV001861385 RCV000813677 RCV002523862 RCV004566793 RCV003473247 RCV001854116 RCV004568540 RCV000809601 RCV000792527 RCV000816666 RCV002549235 RCV003473545 RCV001234064 RCV001050115 RCV001046459
PEX7-related disorder	Likely pathogenic; Pathogenic	rs1185311207, rs1805137, rs121909151, rs148591292, rs61753238, rs1774594545	RCV004733521 RCV000352824 RCV004732537 RCV000388756 RCV000324320 RCV004723323
Phytanic acid storage disease	Likely pathogenic; Pathogenic	rs267608254, rs1805137, rs121909151, rs61753238, rs763514968, rs267608252	RCV002485052 RCV005394139 RCV002504768 RCV000763558 RCV002502423 RCV000032114
Retinal disorder	Pathogenic	rs1805137	RCV006253453
Rhizomelic chondrodysplasia punctata	Likely pathogenic; Pathogenic	rs2115170536, rs121909151, rs121909152, rs121909153, rs148591292, rs121909154, rs61753238, rs62636519, rs763514968, rs61753248, rs267608254	RCV005606974 RCV001831555 RCV001831556 RCV001826452 RCV001027954 RCV001826453 RCV001826454 RCV001828372 RCV001828373 RCV001275004 RCV005606748
Rhizomelic chondrodysplasia punctata type 1	Pathogenic; Likely pathogenic	rs1456007349, rs2115170536, rs773406384, rs1478244495, rs2548072230, rs2548068762, rs2548095379, rs2548082672, rs2548072023, rs2548095371, rs2548095308, rs2548068920, rs2548072160, rs267608254, rs764346452 View all (43 more)	RCV001822980 RCV001825096 RCV002271879 RCV002306468 RCV002306477 RCV002306550 RCV002309593 RCV002308279 RCV002309495 RCV002306841 RCV002307134 RCV002307294 RCV002310416 RCV000169353 RCV000169000 RCV000169479 RCV004690308 RCV000490306 RCV000008222 RCV000008223 RCV000008224 RCV000008225 RCV000008226 RCV000008227 RCV000411170 RCV000147254 RCV000032117 RCV005036817 RCV005038716 RCV000411594 RCV000409296 RCV000411102 RCV000411754 RCV000409059 RCV000409536 RCV000411360 RCV000409658 RCV000411123 RCV000411178 RCV000411675 RCV000411695 RCV000409579 RCV000409011 RCV000410971 RCV000500982 RCV000499989 RCV000032118 RCV000670509 RCV000671094 RCV000670475 RCV000668712 RCV000664574 RCV000670069 RCV000667366 RCV001004175 RCV001004177 RCV001004178 RCV001004179 RCV001004180 RCV001004181

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1774099296	RCV004557884
Intellectual disability	Uncertain significance	rs200234391	RCV001252341
Malignant lymphoma, large B-cell, diffuse	Benign	rs563675060	RCV005868049
Retinal dystrophy	Uncertain significance; Conflicting classifications of pathogenicity	rs759745913, rs267608255	RCV004815538 RCV004814859
Sarcoma	Likely benign	rs74658757	RCV005906405
Thymoma	Likely benign	rs74658757	RCV005906406
Uterine corpus endometrial carcinoma	Benign	rs563675060	RCV005868050

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)