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.	9409
Gene name Gene Name - the full gene name approved by the HGNC.	Peroxisomal biogenesis factor 16
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PEX16
Synonyms (NCBI Gene) Gene synonyms aliases	PBD8A, PBD8B
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p11.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product

Show/Hide all(12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61752117	G>A	Pathogenic	Coding sequence variant, stop gained
rs144063598	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144897515	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, synonymous variant, intron variant
rs146657010	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs149348130	C>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267608185	A>G	Pathogenic	Splice donor variant
rs397514472	T>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs567165324	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs754790425	GGC>-	Likely-pathogenic	Intron variant, inframe deletion, coding sequence variant
rs797045062	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant, intron variant
rs1064794320	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1590793006	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

Show/Hide all(58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022948	hsa-miR-124-3p	Microarray	18668037
MIRT713415	hsa-miR-4286	HITS-CLIP	19536157
MIRT713414	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT713413	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT713412	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT713411	hsa-miR-1913	HITS-CLIP	19536157
MIRT713410	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT713409	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT713408	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT713407	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT713406	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT713415	hsa-miR-4286	HITS-CLIP	19536157
MIRT713414	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT713413	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT713412	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT713411	hsa-miR-1913	HITS-CLIP	19536157
MIRT713410	hsa-miR-324-3p	HITS-CLIP	19536157
MIRT713409	hsa-miR-5699-5p	HITS-CLIP	19536157
MIRT713408	hsa-miR-4758-3p	HITS-CLIP	19536157
MIRT713407	hsa-miR-3189-5p	HITS-CLIP	19536157
MIRT713406	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT1225696	hsa-miR-1226	CLIP-seq
MIRT1225697	hsa-miR-1285	CLIP-seq
MIRT1225698	hsa-miR-2278	CLIP-seq
MIRT1225699	hsa-miR-3157-5p	CLIP-seq
MIRT1225700	hsa-miR-3187-5p	CLIP-seq
MIRT1225701	hsa-miR-4640-5p	CLIP-seq
MIRT1225702	hsa-miR-4691-3p	CLIP-seq
MIRT1225703	hsa-miR-4726-5p	CLIP-seq
MIRT1225704	hsa-miR-4733-3p	CLIP-seq
MIRT1225705	hsa-miR-612	CLIP-seq
MIRT1225706	hsa-miR-885-3p	CLIP-seq
MIRT2065890	hsa-miR-135a	CLIP-seq
MIRT2065891	hsa-miR-135b	CLIP-seq
MIRT2065892	hsa-miR-3160-5p	CLIP-seq
MIRT2065893	hsa-miR-4315	CLIP-seq
MIRT2065894	hsa-miR-4648	CLIP-seq
MIRT2065895	hsa-miR-4652-3p	CLIP-seq
MIRT2065896	hsa-miR-4654	CLIP-seq
MIRT2065897	hsa-miR-4769-5p	CLIP-seq
MIRT2065898	hsa-miR-604	CLIP-seq
MIRT2065899	hsa-miR-646	CLIP-seq
MIRT2065900	hsa-miR-647	CLIP-seq
MIRT2293618	hsa-miR-106a	CLIP-seq
MIRT2293619	hsa-miR-106b	CLIP-seq
MIRT2293620	hsa-miR-17	CLIP-seq
MIRT2293621	hsa-miR-1909	CLIP-seq
MIRT2293622	hsa-miR-20a	CLIP-seq
MIRT2293623	hsa-miR-20b	CLIP-seq
MIRT2293624	hsa-miR-3158-3p	CLIP-seq
MIRT2293625	hsa-miR-3605-5p	CLIP-seq
MIRT2293626	hsa-miR-3609	CLIP-seq
MIRT2293627	hsa-miR-4796-3p	CLIP-seq
MIRT2293628	hsa-miR-513a-5p	CLIP-seq
MIRT2293629	hsa-miR-519d	CLIP-seq
MIRT2293630	hsa-miR-548ah	CLIP-seq
MIRT2293631	hsa-miR-760	CLIP-seq
MIRT2293632	hsa-miR-93	CLIP-seq

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12096124, 14709540, 15713480, 16280322, 19114594, 20531392, 25416956, 29997244, 31467278, 32296183, 32814053, 33961781, 37398436, 38225382
GO:0005777	Component	Peroxisome	IDA	9837814, 15813749, 21768384
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	12223482
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	IMP	9922452
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	19479899, 21768384
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16717127
GO:0005829	Component	Cytosol	TAS
GO:0006625	Process	Protein targeting to peroxisome	IMP	9837814
GO:0007031	Process	Peroxisome organization	IBA
GO:0007031	Process	Peroxisome organization	IEA
GO:0007031	Process	Peroxisome organization	IMP	15813749, 19479899
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016557	Process	Peroxisome membrane biogenesis	IMP	9837814, 12223482
GO:0016558	Process	Protein import into peroxisome matrix	IMP	9922452
GO:0022615	Process	Protein to membrane docking	IDA	19114594
GO:0032581	Process	ER-dependent peroxisome organization	IDA	16717127
GO:0045046	Process	Protein import into peroxisome membrane	IMP	12223482
GO:0106101	Process	ER-dependent peroxisome localization	IDA	19479899

MIM	HGNC	e!Ensembl
603360	8857	ENSG00000121680

Protein

UniProt ID

Q9Y5Y5

Protein name

Peroxisomal membrane protein PEX16 (Peroxin-16) (Peroxisomal biogenesis factor 16)

Protein function

Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08610	Pex16	9 → 329	Peroxisomal membrane protein (Pex16)	Family

Sequence

MEKLRLLGLRYQEYVTRHPAATAQLETAVRGFSYLLAGRFADSHELSELVYSASNLLVLL
NDGILRKELRKKLPVSLSQQKLLTWLSVLECVEVFMEMGAAKVWGEVGRWLVIALVQLAK
AVLRMLLLLWFKAGLQTSPPIVPLDRETQAQPPDGDHSPGNHEQSYVGKRSNRVVRTLQN
TPSLHSRHWGAPQQREGRQQQHHEELSATPTPLGLQETIAEFLYIARPLLHLLSLGLWGQ
RSWKPWLLAGVVDVTSLSLLSDRKGLTRRERRELRRRTILLLYYLLRSPFYDRFSEARIL
FLLQLLADHVPGVGLVTRPLMDYLPTWQKIYFYSWG

Sequence length

336

Interactions

View interactions

	KEGG		Reactome
	Peroxisome		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, peroxisome biogenesis disorder 8a (zellweger), peroxisome biogenesis disorder 8b	rs769772100, rs61752117, rs267608185, rs1590793006, rs397514472, rs797045062, rs1064794320	N/A

Show/Hide Unknown Diseases (2)

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.
Insomnia	Insomnia	N/A	N/A	GWAS
Microcephaly	microcephaly	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Colorectal Neoplasms	Associate	29703930
Depressive Disorder	Associate	29280852
Fatigue Syndrome Chronic	Associate	16049284
Papilloma Choroid Plexus	Associate	29703930
Peroxisomal Disorders	Associate	20647552
Peroxisome biogenesis disorders	Associate	20647552, 27679996
Spastic Paraplegia Hereditary	Associate	27679996
Zellweger Syndrome	Associate	20647552

PEX16 (peroxisomal biogenesis factor 16)