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Aliases for PRX Gene

Aliases for PRX Gene

  • Periaxin 2 3 3 5
  • KIAA1620 4
  • CMT4F 3

External Ids for PRX Gene

Previous GeneCards Identifiers for PRX Gene

  • GC19M041539
  • GC19M041291
  • GC19M045575
  • GC19M045591
  • GC19M040899
  • GC19M037335

Summaries for PRX Gene

Entrez Gene Summary for PRX Gene

  • This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRX Gene

PRX (Periaxin) is a Protein Coding gene. Diseases associated with PRX include Charcot-Marie-Tooth Disease, Type 4F and Dejerine-Sottas Disease. An important paralog of this gene is AHNAK2.

UniProtKB/Swiss-Prot for PRX Gene

  • Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.

Gene Wiki entry for PRX Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRX Gene

Genomics for PRX Gene

Regulatory Elements for PRX Gene

Enhancers for PRX Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G040415 2 FANTOM5 Ensembl ENCODE dbSUPER 13.5 -2.4 -2374 2.8 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 SNRPA SERTAD3 FBL PRX CCDC97 ITPKC ENSG00000269843 EID2B PSMC4 NUMBL
GH19G040277 1.7 Ensembl ENCODE dbSUPER 12.5 +132.1 132141 10.4 AGO1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SP3 NFYC TBX21 MEF2D MAP3K10 ENSG00000205041 PRX NUMBL C19orf47 ENSG00000269843 SNRPA EID2B ENSG00000269069 PSMC4
GH19G040392 1.1 Ensembl ENCODE 15 +21.6 21644 1.8 ARID4B ZNF48 ZBTB40 RAD21 EGR1 RCOR1 EGR2 ZNF174 HCFC1 YY2 PRX SERTAD3 EID2B NUMBL SUPT5H CLC HIPK4 PIR49336
GH19G040347 1.2 ENCODE 12.7 +66.1 66134 2.2 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ENSG00000205041 SNRPA ENSG00000269843 ENSG00000269069 NUMBL FBL EID2B PLD3 PRX RN7SL566P
GH19G040413 1.2 Ensembl ENCODE 12.5 +1.1 1146 0.9 ATF1 PTBP1 ZNF133 ZNF155 ZNF121 ZNF23 ZNF138 CBX5 ZNF350 ZNF416 ENSG00000269843 PRX SNRPA EID2B NUMBL SUPT5H CCDC97 COQ8B PIR52826
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRX on UCSC Golden Path with GeneCards custom track

Genomic Location for PRX Gene

Chromosome:
19
Start:
40,393,764 bp from pter
End:
40,414,718 bp from pter
Size:
20,955 bases
Orientation:
Minus strand

Genomic View for PRX Gene

Genes around PRX on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRX Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRX Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRX Gene

Proteins for PRX Gene

  • Protein details for PRX Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXM0-PRAX_HUMAN
    Recommended name:
    Periaxin
    Protein Accession:
    Q9BXM0
    Secondary Accessions:
    • Q9BXL9
    • Q9HCF2

    Protein attributes for PRX Gene

    Size:
    1461 amino acids
    Molecular mass:
    154905 Da
    Quaternary structure:
    • Homodimer (via PDZ domain) (PubMed:24675079). Interacts with SCN10A. Found in a complex with SCN10A (By similarity). Interacts with DRP2. Identified in a dystroglycan complex that contains at least PRX, DRP2, UTRN, DMD and DAG1 (By similarity). Detected in a complex composed of at least EZR, AHNAK, PPL and PRX (By similarity). Identified in a complex with EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, VIM and spectrin (By similarity).
    SequenceCaution:
    • Sequence=BAB13446.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAB13446.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PRX Gene

    Alternative splice isoforms for PRX Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRX Gene

Post-translational modifications for PRX Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRX Gene

No data available for DME Specific Peptides for PRX Gene

Domains & Families for PRX Gene

Gene Families for PRX Gene

Protein Domains for PRX Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PRX Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BXM0

UniProtKB/Swiss-Prot:

PRAX_HUMAN :
  • Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may separate two functional basic and acidic domains.
  • Belongs to the periaxin family.
Domain:
  • Has a remarkable domain of repetitive pentameric units sometimes followed by a tripeptide spacer, it may separate two functional basic and acidic domains.
  • The Arg/Lys-rich basic domain functions as a tripartite nuclear localization signal.
  • The PDZ domain contains the signal for export from the nucleus (PubMed:24633211). The N-terminal region including the PDZ domain is required for the formation of Cajal bands on myelinated nerves.
Family:
  • Belongs to the periaxin family.
genes like me logo Genes that share domains with PRX: view

Function for PRX Gene

Molecular function for PRX Gene

UniProtKB/Swiss-Prot Function:
Scaffolding protein that functions as part of a dystroglycan complex in Schwann cells, and as part of EZR and AHNAK-containing complexes in eye lens fiber cells. Required for the maintenance of the peripheral myelin sheath that is essential for normal transmission of nerve impulses and normal perception of sensory stimuli. Required for normal transport of MBP mRNA from the perinuclear to the paranodal regions. Required for normal remyelination after nerve injury. Required for normal elongation of Schwann cells and normal length of the internodes between the nodes of Ranvier. The demyelinated nodes of Ranvier permit saltatory transmission of nerve impulses; shorter internodes cause slower transmission of nerve impulses. Required for the formation of appositions between the abaxonal surface of the myelin sheath and the Schwann cell plasma membrane; the Schwann cell cytoplasm is restricted to regions between these appositions. Required for the formation of Cajal bands and of Schmidt-Lanterman incisures that correspond to short, cytoplasm-filled regions on myelinated nerves. Recruits DRP2 to the Schwann cell plasma membrane. Required for normal protein composition of the eye lens fiber cell plasma membrane and normal eye lens fiber cell morphology.

Gene Ontology (GO) - Molecular Function for PRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 17474147
genes like me logo Genes that share ontologies with PRX: view
genes like me logo Genes that share phenotypes with PRX: view

Human Phenotype Ontology for PRX Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRX Gene

MGI Knock Outs for PRX:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRX Gene

Localization for PRX Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRX Gene

Isoform 1: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Cytoplasm. Note=Detected in the Schwann cell nucleus prior to the onset of myelination. Detected in Schwann cells at periaxonal myelin membranes. Associated with the cell membrane during myelination. {ECO:0000250 UniProtKB:O55103}.
Isoform 2: Cytoplasm.
Cell membrane. Cell junction. Note=Colocalizes with ACTB at tricellular junctions between eye lens fiber cells. {ECO:0000250 UniProtKB:O55103}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRX gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytoskeleton 2
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 24633211
GO:0005737 cytoplasm IDA,IEA 24633211
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with PRX: view

Pathways & Interactions for PRX Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRX Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008366 axon ensheathment NAS 11133365
genes like me logo Genes that share ontologies with PRX: view

No data available for Pathways by source and SIGNOR curated interactions for PRX Gene

Drugs & Compounds for PRX Gene

No Compound Related Data Available

Transcripts for PRX Gene

Unigene Clusters for PRX Gene

Periaxin:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRX Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2: - -
SP3:
SP4:

Relevant External Links for PRX Gene

GeneLoc Exon Structure for
PRX
ECgene alternative splicing isoforms for
PRX

Expression for PRX Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRX Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRX Gene

This gene is overexpressed in Nerve - Tibial (x32.8).

Protein differential expression in normal tissues from HIPED for PRX Gene

This gene is overexpressed in Spinal cord (63.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PRX Gene



NURSA nuclear receptor signaling pathways regulating expression of PRX Gene:

PRX

SOURCE GeneReport for Unigene cluster for PRX Gene:

Hs.205457

mRNA Expression by UniProt/SwissProt for PRX Gene:

Q9BXM0-PRAX_HUMAN
Tissue specificity: Detected in spinal cord (PubMed:11133365). Isoform 1 and isoform 2 are found in sciatic nerve and Schwann cells (PubMed:11157804).

Evidence on tissue expression from TISSUES for PRX Gene

  • Heart(5)
  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRX Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • head
  • meninges
  • neck
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • toe
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PRX: view

Primer Products

No data available for Protein tissue co-expression partners for PRX Gene

Orthologs for PRX Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRX Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRX 34 35
  • 98.47 (n)
dog
(Canis familiaris)
Mammalia PRX 34 35
  • 84.49 (n)
cow
(Bos Taurus)
Mammalia PRX 34 35
  • 84.28 (n)
mouse
(Mus musculus)
Mammalia Prx 34 16 35
  • 81.14 (n)
rat
(Rattus norvegicus)
Mammalia Prx 34
  • 80.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia PRX 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRX 35
  • 35 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ahnak 35
  • 5 (a)
OneToMany
Species where no ortholog for PRX was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRX Gene

ENSEMBL:
Gene Tree for PRX (if available)
TreeFam:
Gene Tree for PRX (if available)

Paralogs for PRX Gene

Paralogs for PRX Gene

genes like me logo Genes that share paralogs with PRX: view

Variants for PRX Gene

Sequence variations from dbSNP and Humsavar for PRX Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs3814290 Pathogenic, Charcot-Marie-Tooth disease 4F (CMT4F) [MIM:614895] 40,396,401(-) TGCCC(A/G)ATGTG reference, missense, utr-variant-3-prime
rs104894706 Pathogenic 40,397,766(-) GTGTA(A/C/T)GAGAA reference, synonymous-codon, utr-variant-3-prime
rs104894707 Pathogenic 40,396,207(-) GTCTG(A/T)GAAAT reference, utr-variant-3-prime, stop-gained
rs104894708 Pathogenic 40,395,144(-) TGGCT(C/T)GAGGG reference, utr-variant-3-prime, stop-gained
rs104894714 Pathogenic 40,395,495(-) CTGGG(C/T)GAGCT reference, utr-variant-3-prime, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for PRX Gene

Variant ID Type Subtype PubMed ID
esv2718564 CNV deletion 23290073
esv3556393 CNV deletion 23714750
nsv833831 CNV loss 17160897
nsv953575 CNV deletion 24416366

Variation tolerance for PRX Gene

Residual Variation Intolerance Score: 82.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.69; 73.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRX Gene

Human Gene Mutation Database (HGMD)
PRX
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRX

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRX Gene

Disorders for PRX Gene

MalaCards: The human disease database

(14) MalaCards diseases for PRX Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4f
  • dejerine-sottas disease
dejerine-sottas disease
  • hypertrophic neuropathy of dejerine-sottas
charcot-marie-tooth neuropathy type 4f
  • dejerine-sottas disease
neuropathy, congenital hypomyelinating
  • dejerine-sottas disease
hereditary neuropathies
  • neuropathy - hereditary
- elite association - COSMIC cancer census association via MalaCards
Search PRX in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRAX_HUMAN
  • Charcot-Marie-Tooth disease 4F (CMT4F) [MIM:614895]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4F is characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome. {ECO:0000269 PubMed:22847150}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dejerine-Sottas syndrome (DSS) [MIM:145900]: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. {ECO:0000269 PubMed:11133365}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRX

Genetic Association Database (GAD)
PRX
Human Genome Epidemiology (HuGE) Navigator
PRX
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRX
genes like me logo Genes that share disorders with PRX: view

No data available for Genatlas for PRX Gene

Publications for PRX Gene

  1. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel C.F. … Lupski J.R. (Ann. Neurol. 2002) 3 22 46 64
  2. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. (PMID: 11133365) Boerkoel C.F. … Lupski J.R. (Am. J. Hum. Genet. 2001) 3 4 22 64
  3. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. (PMID: 11157804) Guilbot A. … Claustres M. (Hum. Mol. Genet. 2001) 3 4 22 64
  4. Nuclear export of L-periaxin, mediated by its nuclear export signal in the PDZ domain. (PMID: 24633211) Shi Y. … Yang T. (PLoS ONE 2014) 3 4 64
  5. Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. (PMID: 22847150) Tokunaga S. … Takashima H. (Neurogenetics 2012) 3 4 64

Products for PRX Gene

Sources for PRX Gene

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