PEX12 - peroxisomal biogenesis factor 12 Gene

Also Known as PAF-3; PBD3A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5193

About PEX12

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:35,574,795-35,578,571 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues and is associated with 7 phenotypes. Ubiquitous expression in brain (RPKM 5.6), testis (RPKM 5.4) and 25 other tissues.

Summary

This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

PEX12 Products (1)

mRNA	Protein	Name
NM_000286.3	NP_000277.1	peroxisome assembly protein 12

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10562279	GOA
enables ubiquitin ligase activator activity	IDA IDA: Inferred from direct assay	24662292	GOA
NOT enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	24662292	GOA
enables zinc ion binding	IMP IMP: Inferred from mutant phenotype	10562279	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cellular response to reactive oxygen species	IDA IDA: Inferred from direct assay	26344566	GOA
involved in peroxisome organization	IDA IDA: Inferred from direct assay	9354782	GOA
involved in peroxisome organization	IMP IMP: Inferred from mutant phenotype	17534573	GOA
involved in protein import into peroxisome matrix	IMP IMP: Inferred from mutant phenotype	9090384	GOA
involved in protein import into peroxisome matrix, receptor recycling	IDA IDA: Inferred from direct assay	24662292	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	24662292	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in peroxisomal membrane	IDA IDA: Inferred from direct assay	9922452	GOA
located in peroxisomal membrane	IDA IDA: Inferred from direct assay	9090384	GOA
located in peroxisome	IDA IDA: Inferred from direct assay	9922452	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

PEX12 Protein Structure

Pex2_Pex12

0
100
200
300
359 a.a.

Protein Preferred Names	Protein Names
peroxisome assembly protein 12	peroxin 12

PEX12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PEX12	O00623	TTPA	Homo sapiens	P49638	Validated Y2H	32296183
Intra	PEX12	O00623	COL8A2	Homo sapiens	Q4VAQ0	Validated Y2H	32296183
Intra	PEX12	O00623	NRM	Homo sapiens	Q8IXM6	Validated Y2H	32296183
Intra	PEX12	O00623	MARCHF2	Homo sapiens	Q9P0N8	Validated Y2H	32296183
Intra	PEX12	O00623	ADIPOQ	Homo sapiens	Q15848	Validated Y2H	32296183
Intra	PEX12	O00623	ERMP1	Homo sapiens	Q7Z2K6	Validated Y2H	32296183
Intra	PEX12	O00623	FA2H	Homo sapiens	Q7L5A8	Validated Y2H	32296183
Intra	PEX12	O00623	C5orf46	Homo sapiens	Q6UWT4	Validated Y2H	32296183
Intra	PEX12	O00623	CLDN10	Homo sapiens	P78369	Validated Y2H	32296183
Intra	PEX12	O00623	TREX1	Homo sapiens	Q9NSU2-1	Validated Y2H	32296183
Intra	PEX12	O00623	CYBC1	Homo sapiens	Q9BQA9	Validated Y2H	32296183
Intra	PEX12	O00623	ACSL5	Homo sapiens	Q9ULC5	Validated Y2H	32296183
Intra	PEX12	O00623	RBFA	Homo sapiens	Q8N0V3	Validated Y2H	32296183
Intra	PEX12	O00623	TMEM222	Homo sapiens	Q9H0R3	Validated Y2H	32296183
Intra	PEX12	O00623	GJB2	Homo sapiens	P29033	Validated Y2H	32296183
Intra	PEX12	O00623	NKG7	Homo sapiens	Q16617	Validated Y2H	32296183
Intra	PEX12	O00623	SEC61G	Homo sapiens	P60059	Validated Y2H	32296183
Intra	PEX12	O00623	PEX19	Homo sapiens	P40855	Far-WB	10704444
Intra	PEX12	O00623	PEX5	Homo sapiens	P50542	Filter Binding	10562279
Intra	PEX12	O00623	PEX5	Homo sapiens	P50542	Y2H	10562279
Intra	PEX12	O00623	PEX5	Homo sapiens	P50542	Y2H	12096124
Intra	PEX12	O00623	FXYD6	Homo sapiens	Q9H0Q3	Validated Y2H	32296183
Intra	PEX12	O00623	TMEM11	Homo sapiens	P17152	Validated Y2H	32296183
Intra	PEX12	O00623	FKBP8	Homo sapiens	Q14318	Validated Y2H	32296183
Intra	PEX12	O00623	IER3IP1	Homo sapiens	Q9Y5U9	Validated Y2H	32296183
Intra	PEX12	O00623	STX8	Homo sapiens	Q9UNK0	Validated Y2H	32296183
Intra	PEX12	O00623	PTPN9	Homo sapiens	P43378	Validated Y2H	32296183
Intra	PEX12	O00623	SRGN	Homo sapiens	P10124	Validated Y2H	32296183
Intra	PEX12	O00623	BNIP2	Homo sapiens	Q12982	Validated Y2H	32296183
Intra	PEX12	O00623	DNAJC30	Homo sapiens	Q96LL9	Validated Y2H	32296183
Intra	PEX12	O00623	SMCO4	Homo sapiens	Q9NRQ5	Validated Y2H	32296183
Intra	PEX12	O00623	BTN2A2	Homo sapiens	Q8WVV5	Validated Y2H	32296183
Intra	PEX12	O00623	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183
Intra	PEX12	O00623	PNLIPRP1	Homo sapiens	P54315	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Peroxisome Biogenesis Disorder 3b	PBD3B Peroxisome Biogenesis Disorder Type 3b Peroxisome Biogenesis Disorder, Type 3b
Peroxisome Biogenesis Disorder 3a	PBD3A Peroxisome Biogenesis Disorder Complementation Group 3 PBD-CG3 Cg3 Peroxisome Biogenesis Disorder, Type 3a
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
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
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
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelic Chondrodysplasia Punctata Type 1 RCDP1 Peroxisome Biogenesis Disorder 9 Pbd9 Chondrodysplasia Punctata, Rhizomelic Form Cdpr Chondrodystrophia Calcificans Punctata Rhizomelic Chondrodysplasia Punctata 1 Chondrodysplasia Punctata, Rhizomelic, Type 1 Chondrodysplasia Punctata, Rhizomelic
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
Skin Creases, Congenital Symmetric Circumferential, 1	Michelin Tire Baby Syndrome CSCSC1 Skin Creases, Multiple Benign Ring-Shaped, Of Limbs Circumferential Skin Creases, Kunze Type Congenital Symmetric Circumferential Skin Creases 1 Circumferential Skin Creases Kunze Type Symmetric Circumferential Skin Creases, Congenital, 1 Csc-Kt Multiple Benign Ring-Shaped Skin Creases Of Limbs Michelin-Tire Baby
Skin Creases, Congenital Symmetric Circumferential, 2	CSCSC2 Symmetric Circumferential Skin Creases, Congenital, 2 Congenital Symmetric Circumferential Skin Creases 2
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Cornelia De Lange Syndrome 1	De Lange Syndrome CDLS1 Cdl Cdls Typus Degenerativus Amstelodamensis Brachmann-De Lange Syndrome Bdls Amstelodamensis Typus Degenerativus Cornelia De Lange Syndrome, Type 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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-RS10343	PEX12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PEX12	MGD	MGI:2144177
Bos taurus	PEX12	VGNC	VGNC:32754
Rattus norvegicus	PEX12	RGD	RGD:620757
Canis familiaris	PEX12	VGNC	VGNC:44429
Macaca mulatta	PEX12	VGNC	VGNC:75948
Felis catus	PEX12	VGNC	VGNC:68794
Others	PEX12	NCBI