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.	5195
Gene name Gene Name - the full gene name approved by the HGNC.	Peroxisomal biogenesis factor 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PEX14
Synonyms (NCBI Gene) Gene synonyms aliases	NAPP2, PBD13A, Pex14p, dJ734G22.2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p36.22
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxiso

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs12068754	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs61752116	C>T	Pathogenic	Stop gained, coding sequence variant
rs112851814	G>A,C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs142285791	A>C,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145899844	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs146359055	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs147043673	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs147210317	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148479162	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149856184	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372630614	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs781098256	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant

Show/Hide all(81)

miRTarBase ID	miRNA	Experiments	Reference
MIRT031741	hsa-miR-16-5p	Proteomics	18668040
MIRT052548	hsa-let-7a-5p	CLASH	23622248
MIRT040066	hsa-miR-615-3p	CLASH	23622248
MIRT529163	hsa-miR-4293	PAR-CLIP	22012620
MIRT529162	hsa-miR-330-3p	PAR-CLIP	22012620
MIRT529161	hsa-miR-3157-5p	PAR-CLIP	22012620
MIRT529163	hsa-miR-4293	PAR-CLIP	22012620
MIRT529162	hsa-miR-330-3p	PAR-CLIP	22012620
MIRT529161	hsa-miR-3157-5p	PAR-CLIP	22012620
MIRT1225664	hsa-miR-1207-5p	CLIP-seq
MIRT1225665	hsa-miR-1266	CLIP-seq
MIRT1225666	hsa-miR-1321	CLIP-seq
MIRT1225667	hsa-miR-1827	CLIP-seq
MIRT1225668	hsa-miR-1915	CLIP-seq
MIRT1225669	hsa-miR-214	CLIP-seq
MIRT1225670	hsa-miR-3127-5p	CLIP-seq
MIRT1225671	hsa-miR-3135b	CLIP-seq
MIRT1225672	hsa-miR-3612	CLIP-seq
MIRT1225673	hsa-miR-3619-5p	CLIP-seq
MIRT1225674	hsa-miR-3652	CLIP-seq
MIRT1225675	hsa-miR-3918	CLIP-seq
MIRT1225676	hsa-miR-4419a	CLIP-seq
MIRT1225677	hsa-miR-4430	CLIP-seq
MIRT1225678	hsa-miR-4443	CLIP-seq
MIRT1225679	hsa-miR-4446-3p	CLIP-seq
MIRT1225680	hsa-miR-4492	CLIP-seq
MIRT1225681	hsa-miR-4498	CLIP-seq
MIRT1225682	hsa-miR-4510	CLIP-seq
MIRT1225683	hsa-miR-4518	CLIP-seq
MIRT1225684	hsa-miR-4640-5p	CLIP-seq
MIRT1225685	hsa-miR-4685-5p	CLIP-seq
MIRT1225686	hsa-miR-4690-5p	CLIP-seq
MIRT1225687	hsa-miR-4726-3p	CLIP-seq
MIRT1225688	hsa-miR-4726-5p	CLIP-seq
MIRT1225689	hsa-miR-4739	CLIP-seq
MIRT1225690	hsa-miR-4756-5p	CLIP-seq
MIRT1225691	hsa-miR-4763-3p	CLIP-seq
MIRT1225692	hsa-miR-650	CLIP-seq
MIRT1225693	hsa-miR-761	CLIP-seq
MIRT1225694	hsa-miR-762	CLIP-seq
MIRT1225695	hsa-miR-940	CLIP-seq
MIRT1552239	hsa-miR-3126-5p	CLIP-seq
MIRT1552240	hsa-miR-4268	CLIP-seq
MIRT1552241	hsa-miR-4660	CLIP-seq
MIRT1552242	hsa-miR-4691-5p	CLIP-seq
MIRT2065885	hsa-miR-3138	CLIP-seq
MIRT2065886	hsa-miR-4505	CLIP-seq
MIRT2065887	hsa-miR-4520a-3p	CLIP-seq
MIRT2065888	hsa-miR-4715-3p	CLIP-seq
MIRT2065889	hsa-miR-4733-3p	CLIP-seq
MIRT1225667	hsa-miR-1827	CLIP-seq
MIRT1225672	hsa-miR-3612	CLIP-seq
MIRT1225675	hsa-miR-3918	CLIP-seq
MIRT1552241	hsa-miR-4660	CLIP-seq
MIRT2065888	hsa-miR-4715-3p	CLIP-seq
MIRT1225692	hsa-miR-650	CLIP-seq
MIRT2439399	hsa-miR-4297	CLIP-seq
MIRT2439400	hsa-miR-639	CLIP-seq
MIRT2439399	hsa-miR-4297	CLIP-seq
MIRT2439400	hsa-miR-639	CLIP-seq
MIRT1552239	hsa-miR-3126-5p	CLIP-seq
MIRT2591628	hsa-miR-3150b-3p	CLIP-seq
MIRT1552240	hsa-miR-4268	CLIP-seq
MIRT1552241	hsa-miR-4660	CLIP-seq
MIRT2591629	hsa-miR-4689	CLIP-seq
MIRT1552242	hsa-miR-4691-5p	CLIP-seq
MIRT2591630	hsa-miR-4784	CLIP-seq
MIRT2591631	hsa-miR-4785	CLIP-seq
MIRT1225667	hsa-miR-1827	CLIP-seq
MIRT2687618	hsa-miR-2682	CLIP-seq
MIRT1552239	hsa-miR-3126-5p	CLIP-seq
MIRT2591628	hsa-miR-3150b-3p	CLIP-seq
MIRT1225672	hsa-miR-3612	CLIP-seq
MIRT1552240	hsa-miR-4268	CLIP-seq
MIRT2687619	hsa-miR-449c	CLIP-seq
MIRT1552241	hsa-miR-4660	CLIP-seq
MIRT2591629	hsa-miR-4689	CLIP-seq
MIRT1552242	hsa-miR-4691-5p	CLIP-seq
MIRT2591630	hsa-miR-4784	CLIP-seq
MIRT2591631	hsa-miR-4785	CLIP-seq
MIRT1225692	hsa-miR-650	CLIP-seq

Show/Hide all(50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001650	Component	Fibrillar center	IDA
GO:0003714	Function	Transcription corepressor activity	IDA	11863372
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IPI	10022913, 21525035
GO:0005515	Function	Protein binding	IPI	9653144, 10562279, 10704444, 11863372, 12096124, 12488033, 19197237, 19584060, 21525035, 21976670, 24235149, 29997244, 31467278, 32296183, 37398436
GO:0005634	Component	Nucleus	NAS	11863372
GO:0005777	Component	Peroxisome	IDA	16449325, 17881773, 19197237, 21375735
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	19197237, 28765278
GO:0005778	Component	Peroxisomal membrane	IDA	10022913, 11669066, 16449325, 18346465
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	ISS
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006513	Process	Protein monoubiquitination	ISS	35768507
GO:0007031	Process	Peroxisome organization	IGI	10022913
GO:0007031	Process	Peroxisome organization	ISS
GO:0008017	Function	Microtubule binding	IDA	21525035
GO:0008320	Function	Protein transmembrane transporter activity	IDA	28765278
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016558	Process	Protein import into peroxisome matrix	IDA	21976670
GO:0016558	Process	Protein import into peroxisome matrix	IMP	15146459
GO:0016560	Process	Protein import into peroxisome matrix, docking	IBA
GO:0016560	Process	Protein import into peroxisome matrix, docking	IDA	11438541, 25538232, 28765278
GO:0016561	Process	Protein import into peroxisome matrix, translocation	IDA	28765278
GO:0016561	Process	Protein import into peroxisome matrix, translocation	IDA	21525035, 28765278
GO:0016562	Process	Protein import into peroxisome matrix, receptor recycling	IDA	16854980, 19208625, 24662292
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	11438541, 24235149, 28765278
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0032091	Process	Negative regulation of protein binding	IDA	21976670
GO:0032991	Component	Protein-containing complex	IDA	19584060
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0034453	Process	Microtubule anchoring	IDA	21525035
GO:0034614	Process	Cellular response to reactive oxygen species	IDA	26344566
GO:0036250	Process	Peroxisome transport along microtubule	IDA	21525035
GO:0042802	Function	Identical protein binding	IPI	12488033
GO:0043335	Process	Protein unfolding	IDA	16854980
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IDA	11863372
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	IDA	21976670
GO:0044721	Process	Protein import into peroxisome matrix, substrate release	ISS	35768507
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	11863372
GO:0048487	Function	Beta-tubulin binding	IPI	21525035
GO:0065003	Process	Protein-containing complex assembly	IDA	21525035
GO:1990429	Component	Peroxisomal importomer complex	IBA

MIM	HGNC	e!Ensembl
601791	8856	ENSG00000142655

Protein

UniProt ID

O75381

Protein name

Peroxisomal membrane protein PEX14 (PTS1 receptor-docking protein) (Peroxin-14) (Peroxisomal membrane anchor protein PEX14)

Protein function

Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:24235149, PubMed:28765278, PubMed:9653144). The PEX13-PEX14 docking complex for

PDB

2W84 , 2W85 , 4BXU , 9GAG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04695	Pex14_N	24 → 69	Pex14 N-terminal domain	Domain

Sequence

MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTD
EEIDMAFQQSGTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIA
FGFHQLYKKYLLPLILGGREDRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQ
QQKIQELAHELAAAKATTSTNWILESQNINELKSEINSLKGLLLNRRQFPPSPSAPKIPS
WQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEGHSPEGSTVTYHLLGPQEEGE
GVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDRRGGDGQINEQ
VEKLRRPEGASNESERD

Sequence length

377

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		E3 ubiquitin ligases ubiquitinate target proteins Peroxisomal protein import Class I peroxisomal membrane protein import

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Zellweger Syndrome	peroxisome biogenesis disorder 13a (zellweger), Peroxisome biogenesis disorder, complementation group K	rs61752116, rs1641167602	N/A

Show/Hide Unknown Diseases (4)

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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Asthma	Asthma	N/A	N/A	GWAS
Breast cancer	Breast cancer (estrogen-receptor negative), Breast cancer	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	24325915, 26472073, 27859137
Colorectal Neoplasms	Associate	33787596
Corneal Dystrophy Crystalline of Schnyder	Associate	16163269
Glioma	Associate	20378009
Neoplasms	Inhibit	15740626
Neoplasms	Associate	20378009
Triple Negative Breast Neoplasms	Associate	24325915
Zellweger Syndrome	Associate	37493040

PEX14 (peroxisomal biogenesis factor 14)