PEX16 - peroxisomal biogenesis factor 16 Gene

Also Known as PBD8A; PBD8B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9409

About PEX16

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:45,909,663-45,918,822 (from NCBI)

This gene has 11 transcripts (splice variants), 202 orthologues and is associated with 7 phenotypes. Ubiquitous expression in testis (RPKM 7.9), spleen (RPKM 6.6) and 25 other tissues.

Summary

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 morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]

PEX16 Products (2)

mRNA	Protein	Name
NM_004813.4	NP_004804.2	peroxisomal biogenesis factor 16 isoform 1
NM_057174.3	NP_476515.2	peroxisomal biogenesis factor 16 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12096124	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in ER-dependent peroxisome localization	IDA IDA: Inferred from direct assay	19479899	GOA
involved in ER-dependent peroxisome organization	IDA IDA: Inferred from direct assay	16717127	GOA
involved in peroxisome membrane biogenesis	IMP IMP: Inferred from mutant phenotype	9837814	GOA
involved in peroxisome organization	IMP IMP: Inferred from mutant phenotype	15813749	GOA
acts upstream of or within protein import into peroxisome matrix	IMP IMP: Inferred from mutant phenotype	9922452	GOA
involved in protein import into peroxisome membrane	IMP IMP: Inferred from mutant phenotype	12223482	GOA
involved in protein targeting to peroxisome	IMP IMP: Inferred from mutant phenotype	9837814	GOA
involved in protein to membrane docking	IDA IDA: Inferred from direct assay	19114594	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	19479899	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	16717127	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	12223482	GOA
located in peroxisomal membrane	IMP IMP: Inferred from mutant phenotype	9922452	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9837814	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PEX16 Protein Structure

Pex16

0
100
200
300
336 a.a.

Protein Preferred Names	Protein Names
peroxisomal biogenesis factor 16	peroxin 16

PEX16 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PEX16	Q9Y5Y5	PGRMC2	Homo sapiens	O15173	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	PGRMC2	Homo sapiens	O15173	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	KCNJ6	Homo sapiens	P48051	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	KCNJ6	Homo sapiens	P48051	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	ZDHHC15	Homo sapiens	Q96MV8	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	ZDHHC15	Homo sapiens	Q96MV8	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	GPR152	Homo sapiens	Q8TDT2	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	GPR152	Homo sapiens	Q8TDT2	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	SLC35C2	Homo sapiens	Q9NQQ7-3	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	SLC35C2	Homo sapiens	Q9NQQ7-3	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	SLC18A1	Homo sapiens	P54219-3	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	SLC18A1	Homo sapiens	P54219-3	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	SLC10A6	Homo sapiens	Q3KNW5	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	SLC10A6	Homo sapiens	Q3KNW5	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	FFAR2	Homo sapiens	O15552	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	FFAR2	Homo sapiens	O15552	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	CLEC10A	Homo sapiens	Q8IUN9	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	CLEC10A	Homo sapiens	Q8IUN9	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	MFSD14B	Homo sapiens	Q5SR56	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	MFSD14B	Homo sapiens	Q5SR56	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	SLC10A1	Homo sapiens	Q14973	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	SLC10A1	Homo sapiens	Q14973	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	TNFRSF17	Homo sapiens	Q02223	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	TNFRSF17	Homo sapiens	Q02223	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	PEX19	Homo sapiens	P40855	Peptide Array	20531392
Intra	PEX16	Q9Y5Y5	PEX19	Homo sapiens	P40855	BRET	37398436
Intra	PEX16	Q9Y5Y5	PEX19	Homo sapiens	P40855	Anti Tag CoIP	14709540
Intra	PEX16	Q9Y5Y5	PEX19	Homo sapiens	P40855	MAPPIT	25416956
Intra	PEX16	Q9Y5Y5	PEX19	Homo sapiens	P40855	Y2H	12096124
Intra	PEX16	Q9Y5Y5	PEX3	Homo sapiens	P56589	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	PEX3	Homo sapiens	P56589	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	MMGT1	Homo sapiens	Q8N4V1	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	MMGT1	Homo sapiens	Q8N4V1	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	TMX2	Homo sapiens	Q9Y320	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	TMX2	Homo sapiens	Q9Y320	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	CREB3L1	Homo sapiens	Q96BA8	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	CREB3L1	Homo sapiens	Q96BA8	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	PDZK1IP1	Homo sapiens	Q13113	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	PDZK1IP1	Homo sapiens	Q13113	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	DEXI	Homo sapiens	O95424	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	DEXI	Homo sapiens	O95424	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	OPTN	Homo sapiens	Q96CV9	Validated Y2H	32814053
Intra	PEX16	Q9Y5Y5	OPTN	Homo sapiens	Q96CV9	Y2H Pooling	32814053
Intra	PEX16	Q9Y5Y5	OPTN	Homo sapiens	Q96CV9	Y2H Array	32814053
Intra	PEX16	Q9Y5Y5	LEPROTL1	Homo sapiens	O95214	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	LEPROTL1	Homo sapiens	O95214	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	REEP4	Homo sapiens	Q9H6H4	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	REEP4	Homo sapiens	Q9H6H4	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	ERGIC3	Homo sapiens	Q9Y282	Y2H Prey Pooling	32296183
Intra	PEX16	Q9Y5Y5	ERGIC3	Homo sapiens	Q9Y282	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	EBAG9	Homo sapiens	O00559	Y2H Array	32296183
Intra	PEX16	Q9Y5Y5	EBAG9	Homo sapiens	O00559	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Peroxisome Biogenesis Disorder 8b	PBD8B Peroxisome Biogenesis Disorder, Type 8b
Peroxisome Biogenesis Disorder 8a	PBD8A Peroxisome Biogenesis Disorder Complementation Group 9 PBD-CG9 Cg9 Pbd-Cgd Peroxisome Biogenesis Disorder Complementation Group D Peroxisome Biogenesis Disorder, Type 8a
Peroxisome Biogenesis Disorder 1b	Peroxisome Biogenesis Disorder Infantile Refsum Disease Infantile Phytanic Acid Storage Disease PBD1B Refsum Disease, Infantile Adrenoleukodystrophy, Autosomal Neonatal Ird Mild Pbd-Zsd Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Pbd-Zsd Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Autosomal Neonatal Adrenoleukodystrophy Refsum Disease Infantile Peroxisome Biogenesis Disorders Peroxisome Biogenesis Disorder, Type 1b
Zellweger Spectrum Disorder	Zsd Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum Zellweger Spectrum Cerebrohepatorenal Syndrome Pbd, Zss Pbd-Zsd Zellweger Syndrome Spectrum Zellweger Syndrome
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Neonatal Adrenoleukodystrophy	Nald Adrenoleukodystrophy Autosomal Neonatal Form Intermediate Pbd-Zsd Intermediate Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder Adrenoleukodystrophy, Autosomal, Neonatal Form Adrenoleukodystrophy Neonatal Adrenoleukodystrophy, Neonatal
Rhizomelic Chondrodysplasia Punctata	Chondrodysplasia Punctata, Rhizomelic Rcdp Chondrodysplasia Punctata, Rhizomelic Form Rcp Chondrodysplasia Punctata Rhizomelic
Spastic Paraplegia 46, Autosomal Recessive	SPG46 Hereditary Spastic Paraplegia 46 Autosomal Recessive Spastic Paraplegia Type 46 Autosomal Recessive Spastic Paraplegia 46 Paraplegia, Spastic, Type 46, Autosomal Recessive
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Adrenoleukodystrophy	X-Linked Adrenoleukodystrophy ALD Siemerling-Creutzfeldt Disease X-Ald X-Linked Cerebral Adrenoleukodystrophy Bronze Schilder Disease Melanodermic Leukodystrophy Addison Disease And Cerebral Sclerosis Adrenomyeloneuropathy, Adult Diffuse Sclerosis X-Cald Adrenomyeloneuropathy Encephalitis Periaxialis Concentrica Encephalitis Periaxialis, Schilder'S Sudanophilic Cerebral Sclerosis Ald Childhood Cerebral Form Adrenoleukodystrophy X-Linked Cerebral Form Adrenoleukodystrophy Childhood Cerebral Form Childhood Cerebral Ald Schilder Disease X-Linked Ald Adrenoleukodystrophy, X-Linked Amn Diffuse Cerebral Sclerosis Of Schilder Systemic Scleroderma Balo'S Concentric Sclerosis Ald - [Adrenoleukodystrophy] Addison-Schilder
Frontonasal Dysplasia 2	FND2 Frontonasal Dysplasia With Alopecia And Genital Anomaly Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome Alx4-Related Fndag Craniofrontonasal Dysplasia With Alopecia And Hypogonadism Frontonasal Dysplasia Type 2 Frontonasal Dysplasia With Alopecia And Genital Abnomality Doid:0081046 Dysplasia, Frontonasal, Type 2
Spastic Ataxia 4
Mitochondrial Dna Depletion Syndrome 13	MTDPS13 Fbxl4 Deficiency Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies Fbxl4-Related Early-Onset Mitochondrial Encephalopathy Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type Bxl4-Related Early-Onset Mitochondrial Encephalopathy Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13 Fbxl4-Related Early Onset Mitochondrial Encephalopathy Mitochondrial Dna Depletion Syndrome, Type 13
Mitochondrial Dna Depletion Syndrome 3	Deoxyguanosine Kinase Deficiency Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form MTDPS3 Dguok Deficiency Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Dguok-Related Mitochondrial Dna Depletion Syndrome Hepatocerebral Mitochondrial Dna Depletion Syndrome Mtdna Depletion Syndrome, Hepatocerebral Form Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type Mitochondrial Dna Depletion Syndrome , Type 3
Linear Skin Defects With Multiple Congenital Anomalies 1	Midas Syndrome Mcops7 Mls Syndrome Microphthalmia, Syndromic 7 Microphthalmia With Linear Skin Defects Syndrome Microphthalmia With Linear Skin Defects Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome Syndromic Microphthalmia Type 7 LSDMCA1 Mls Microphthalmia, Dermal Aplasia, And Sclerocornea Microphthalmia With Linear Skin Defect Syndrome Syndromic Microphthalmia 7 Linear Skin Defects With Multiple Congenital Anomalies Microphthalmia, Dermal Aplasia, Sclerocornea Syndrome Microphthalmia Dermal Aplasia And Sclerocornea Syndrome Micropthalmia Syndromic 7 Microphthalmia Syndromic 7 Microphthalmia With Linear Skin Lesions Syndrome Syndromic Microphthalmia-7 Microphthalmia, Dermal Aplasia And Sclerocornea Microphthalmia, Syndromic, 7 Midas
Peroxisomal Disease	Peroxisomal Disorder Peroxisomal Disorders Peroxisomal Defects
Chondrodysplasia Punctata Syndrome	Chondrodysplasia Punctata Chondrodysplasia Punctata Congenita Toriello Higgins Miller Syndrome Chondrodysplasia Punctata, Toriello Type Toriello-Higgins-Miller Syndrome Cdp Chondrodysplasia Punctata, X-Linked Dominant Type Chondrodysplasia Punctata Group Dysplasia Punctata Epiphysis Dysplasia Punctata Dysplasia Epiphysealis Punctata Chondrodystrophy Of Punctata
Refsum Disease, Classic	Refsum Disease Heredopathia Atactica Polyneuritiformis Phytanic Acid Oxidase Deficiency Hmsn Iv Refsum Disease, Adult, 1 Refsum'S Disease Phytanic Acid Storage Disease Hereditary Motor And Sensory Neuropathy Iv Hmsn4 Hmsn Type Iv Hmsn 4 Adult Refsum Disease Classic Refsum Disease Hereditary Motor And Sensory Neuropathy Type Iv Refsum Syndrome Hsmn Iv Disorder Of Cornification 11 Doc 11 Hereditary Sensory And Motor Neuropathy Type 4 Hypertrophic Neuropathy Of Refsum Ard Crd Hereditary Motor And Sensory Neuropathy Type 4 Phytanic-Coa Hydroxylase Deficiency RD
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Ocular Albinism With Sensorineural Deafness OASD Deafness And Ocular Albinism Ocular Albinism With Late-Onset Sensorineural Deafness Albinism, Ocular, With Sensorineural Deafness Autosomal Recessive Waardenburg Syndrome Type 2 With Ocular Albinism Digenic Waardenburg Syndrome/Albinism Digenic Waardenburg Syndrome/Ocular Albinism Ws2-Oa Albinism Ocular Late Onset Sensorineural Deafness Ocular Albinism With Late-Onset Sensorineural Hearing Loss Waardenburg Syndrome/Ocular Albinism, Digenic Waardenburg Syndrome/Albinism, Digenic Ocular Albinism And Sensorineural Deafness
Developmental And Epileptic Encephalopathy 2	Epileptic Encephalopathy, Early Infantile, 2 DEE2 Eiee2 Issx2 Developmental And Epileptic Encephalopathy, 2 Infantile Spasm Syndrome, X-Linked 2 Early Infantile Epileptic Encephalopathy 2 X-Linked Infantile Spasm Syndrome 2 Atypical Rett Syndrome Cdkl5-Related Atypical Rett Syndrome Hanefeld Variant Infantile Spasm Syndrome X-Linked 2 Rett Syndrome Early-Onset Seizure Variant Rett Syndrome Variant With Infantile Spasms Encephalopathy, Epileptic, Early Infantile, Type 2
Parietal Foramina	Enlarged Parietal Foramina Hereditary Cranium Bifidum Symmetric Parietal Foramina Catlin Marks Foramina Parietalia Permagna Caitlin Marks Cranium Bifidum Cranium Bifidum Occultum Fenestrae Parietals Symmetricae Fpp Giant Parietal Foramina Pfm Fenestrae Parietales Symmetricae Foramina, Parietal
Constipation
Spastic Ataxia	Spax Ataxia, Spastic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10346	PEX16 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PEX16	VGNC	VGNC:68795
Macaca mulatta	PEX16	VGNC	VGNC:75950
Bos taurus	PEX16	VGNC	VGNC:32757
Mus musculus	PEX16	MGD	MGI:1338829
Rattus norvegicus	PEX16	RGD	RGD:1311372
Canis familiaris	PEX16	VGNC	VGNC:44431
Others	PEX16	NCBI