2. Gene
  3. PEX12 - peroxisomal biogenesis factor 12 Gene

PEX12 - peroxisomal biogenesis factor 12 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PAF-3; PBD3A

Gene ID: 5193 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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

Pex2_Pex12: Pex2 / Pex12 amino terminal region (26 - 267)

  • 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 Reference
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS10343 PEX12 Human Pre-designed siRNA Set A Pre-designed Sets / 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