1. Gene
  2. PEX16 - peroxisomal biogenesis factor 16 Gene

PEX16 - peroxisomal biogenesis factor 16 Gene

Homo sapiens

Also known as PBD8A; PBD8B

Gene ID: 9409 | Gene type: protein coding

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 Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
12096124 GOA
Biological Process GO Annotation Evidence Reference 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 Reference 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

Pex16: Peroxisomal membrane protein (Pex16) (10 - 330)

  • 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 Reference
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

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