This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) bindin... See more...

Aliases for PABPN1 Gene

Aliases for PABPN1 Gene

  • Poly(A) Binding Protein Nuclear 1 2 3 5
  • Polyadenylate-Binding Protein 2 3 4
  • PABP-2 3 4
  • PABP2 3 4
  • PABII 3 4
  • PAB2 3 4
  • Polyadenylate-Binding Nuclear Protein 1 4
  • Poly(A)-Binding Protein, Nuclear 1 2
  • Poly(A) Binding Protein, Nuclear 1 2
  • Nuclear Poly(A)-Binding Protein 1 4
  • Poly(A) Binding Protein II 3
  • Poly(A)-Binding Protein II 4
  • Poly(A) Binding Protein 2 3
  • Poly(A)-Binding Protein 2 4
  • OPMD 3

External Ids for PABPN1 Gene

Previous HGNC Symbols for PABPN1 Gene

  • OPMD
  • PABP2

Previous GeneCards Identifiers for PABPN1 Gene

  • GC14U990066
  • GC14P017576
  • GC14P021779
  • GC14P022859
  • GC14P023789
  • GC14P003905
  • GC14P023466
  • GC14P023643
  • GC14P024552
  • GC14P024684
  • GC14P024810
  • GC14P023678
  • GC14P023801
  • GC14P023890
  • GC14P023949
  • GC14P024062
  • GC14P024180
  • GC14P024291
  • GC14P024437

Summaries for PABPN1 Gene

Entrez Gene Summary for PABPN1 Gene

  • This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for PABPN1 Gene

PABPN1 (Poly(A) Binding Protein Nuclear 1) is a Protein Coding gene. Diseases associated with PABPN1 include Oculopharyngeal Muscular Dystrophy and Muscular Dystrophy. Among its related pathways are Gene Expression and Processing of Capped Intronless Pre-mRNA. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is BCL2L2-PABPN1.

UniProtKB/Swiss-Prot Summary for PABPN1 Gene

  • Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes (PubMed:11371506). Binds to poly(A) and to poly(G) with high affinity (By similarity). May protect the poly(A) tail from degradation (By similarity). Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484).

Gene Wiki entry for PABPN1 Gene

Additional gene information for PABPN1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PABPN1 Gene

Genomics for PABPN1 Gene

GeneHancer (GH) Regulatory Elements for PABPN1 Gene

Promoters and enhancers for PABPN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J023319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 526.8 +1.6 1596 3.6 EP300 FOXK2 ZBTB40 ZNF217 SIN3A NRF1 TCF12 POLR2G USF1 SP1 PABPN1 ACIN1 NGDN RNA5SP383 RBM23 ENSG00000259321 PRMT5 RNF31 LOC102724814 TM9SF1
GH14J023323 Promoter 0.6 EPDnew 500.7 +3.8 3758 0.1 SRF POLR2A RBFOX2 PABPN1 piR-31199-099 BCL2L2-PABPN1 NONHSAG014490.2
GH14J023324 Promoter 0.5 EPDnew 500.7 +4.6 4591 0.1 WT1 RBM39 PABPN1 piR-31199-099 BCL2L2-PABPN1 NONHSAG014490.2
GH14J023326 Promoter 0.4 EPDnew 500.4 +5.0 5043 0.1 ZNF362 PABPN1 piR-31199-099 BCL2L2-PABPN1 NONHSAG014490.2
GH14J023325 Promoter 0.3 EPDnew 500.7 +4.8 4776 0.1 PABPN1 piR-31199-099 BCL2L2-PABPN1 NONHSAG014490.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PABPN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PABPN1

Top Transcription factor binding sites by QIAGEN in the PABPN1 gene promoter:
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • MyoD
  • Sp1
  • STAT1

Genomic Locations for PABPN1 Gene

Genomic Locations for PABPN1 Gene
chr14:23,320,188-23,326,185
(GRCh38/hg38)
Size:
5,998 bases
Orientation:
Plus strand
chr14:23,789,397-23,795,394
(GRCh37/hg19)
Size:
5,998 bases
Orientation:
Plus strand

Genomic View for PABPN1 Gene

Genes around PABPN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PABPN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PABPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PABPN1 Gene

Proteins for PABPN1 Gene

  • Protein details for PABPN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86U42-PABP2_HUMAN
    Recommended name:
    Polyadenylate-binding protein 2
    Protein Accession:
    Q86U42
    Secondary Accessions:
    • D3DS49
    • O43484

    Protein attributes for PABPN1 Gene

    Size:
    306 amino acids
    Molecular mass:
    32749 Da
    Quaternary structure:
    • May interact with SETX (PubMed:21700224). Monomer and homooligomer. Binds RNA as a monomer and oligomerizes when bound to poly(A). Interacts with PAPOLA, but only in presence of oligo(A) RNA. Interacts with transportin. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Association in a ternary complex with CPSF4 and influenza A virus NS1 blocks pre-mRNAs processing, thereby preventing nuclear export of host cell mRNAs. Associates in a single complex with SKIP and MYOD1 and interacts with SKIP in differentiated myocytes. Interacts with NUDT21/CPSF5. Interacts (via RRM domain and C-terminal arginine-rich region) with ZFP36 (via hypophosphorylated form); this interaction occurs in the nucleus in a RNA-independent manner, decreases in presence of single-stranded poly(A) RNA-oligomer and in a p38-dependent-manner and may down-regulated RNA poly(A) polymerase activity (By similarity). Component of the poly(A) tail exosome targeting (PAXT) complex made of accessory factors, such as PABPN1, ZFC3H1 and MTREX (PubMed:27871484). Interacts with ZFC3H1 in a RNase-insensitive manner (PubMed:27871484).
    Miscellaneous:
    • The association of the expanded polyalanine mutations together with the capability to oligomerize may induce intranuclear inclusions and cell death. Expanded polyalanine mutations may either result from unequal crossing over during germ cell homologous recombination or from DNA slippage. The pathogenic mechanisms mediated by polyalanine expansion mutations may be either a general disruption of cellular RNA metabolism due to the trapping by the inclusions of PABPN1, mRNAs and/or nuclear proteins, resulting in the induction of cell death; or may change the normal muscle cell differentiation.
    • [Isoform 2]: May be due to a competing donor splice site.
    SequenceCaution:
    • Sequence=CAD62310.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PABPN1 Gene

    Alternative splice isoforms for PABPN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PABPN1 Gene

Post-translational modifications for PABPN1 Gene

  • Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA binding properties (By similarity).
  • Ubiquitination at Lys123
  • Modification sites at PhosphoSitePlus

Other Protein References for PABPN1 Gene

No data available for DME Specific Peptides for PABPN1 Gene

Domains & Families for PABPN1 Gene

Gene Families for PABPN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PABPN1 Gene

Suggested Antigen Peptide Sequences for PABPN1 Gene

GenScript: Design optimal peptide antigens:
  • Polyadenylate-binding nuclear protein 1 (PABP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86U42

UniProtKB/Swiss-Prot:

PABP2_HUMAN :
  • The RRM domain is essential for specific adenine bases recognition in the poly(A) tail but not sufficient for poly(A) binding.
Domain:
  • The RRM domain is essential for specific adenine bases recognition in the poly(A) tail but not sufficient for poly(A) binding.
genes like me logo Genes that share domains with PABPN1: view

Function for PABPN1 Gene

Molecular function for PABPN1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of 200-250 nt to the upstream cleavage product (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription through MYOD1 and may regulate the expression of muscle-specific genes (PubMed:11371506). Binds to poly(A) and to poly(G) with high affinity (By similarity). May protect the poly(A) tail from degradation (By similarity). Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484).
GENATLAS Biochemistry:
poly (A) binding protein,nuclear 1,with a 5' polymorphic,unstable GCG (alanine) repeat,amplified in oculopharyngeal muscular dystrophy (OPMD)

Phenotypes From GWAS Catalog for PABPN1 Gene

Gene Ontology (GO) - Molecular Function for PABPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,IEA 22658674
GO:0005515 protein binding IPI 11371506
GO:0070063 RNA polymerase binding ISS --
genes like me logo Genes that share ontologies with PABPN1: view
genes like me logo Genes that share phenotypes with PABPN1: view

Human Phenotype Ontology for PABPN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PABPN1 Gene

MGI Knock Outs for PABPN1:

Animal Model Products

CRISPR Products

miRNA for PABPN1 Gene

miRTarBase miRNAs that target PABPN1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PABPN1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PABPN1 Gene

Localization for PABPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PABPN1 Gene

Nucleus. Cytoplasm. Nucleus speckle. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles between the nucleus and the cytoplasm but predominantly found in the nucleus (PubMed:10688363). Its nuclear import may involve the nucleocytoplasmic transport receptor transportin and a RAN-GTP-sensitive import mechanism (By similarity). Is exported to the cytoplasm by a carrier-mediated pathway that is independent of mRNA traffic. Colocalizes with SKIP and poly(A) RNA in nuclear speckles (By similarity). Intranuclear filamentous inclusions or 'aggregates' are detected in the myocytes of patients; these inclusions contain PABPN1, ubiquitin, subunits of the proteasome and poly(A) RNA. {ECO:0000250 UniProtKB:Q28165, ECO:0000269 PubMed:10688363, ECO:0000269 PubMed:11001936, ECO:0000269 PubMed:11371506, ECO:0000269 PubMed:14663186, ECO:0000269 PubMed:17289661, ECO:0000269 PubMed:27209344}.

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 PABPN1 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
mitochondrion 2
plasma membrane 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PABPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 19364924
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck IEA --
GO:0042405 nuclear inclusion body IDA 27209344
genes like me logo Genes that share ontologies with PABPN1: view

Pathways & Interactions for PABPN1 Gene

genes like me logo Genes that share pathways with PABPN1: view

Pathways by source for PABPN1 Gene

2 KEGG pathways for PABPN1 Gene
1 Cell Signaling Technology pathway for PABPN1 Gene

Gene Ontology (GO) - Biological Process for PABPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade ISS --
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006396 RNA processing TAS 9462747
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with PABPN1: view

No data available for SIGNOR curated interactions for PABPN1 Gene

Drugs & Compounds for PABPN1 Gene

(5) Drugs for PABPN1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for PABPN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PABPN1: view

Transcripts for PABPN1 Gene

mRNA/cDNA for PABPN1 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PABPN1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PABPN1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2:

Relevant External Links for PABPN1 Gene

GeneLoc Exon Structure for
PABPN1

Expression for PABPN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PABPN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PABPN1 Gene

This gene is overexpressed in NK cells (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PABPN1 Gene



Protein tissue co-expression partners for PABPN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PABPN1

SOURCE GeneReport for Unigene cluster for PABPN1 Gene:

Hs.707712

mRNA Expression by UniProt/SwissProt for PABPN1 Gene:

Q86U42-PABP2_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PABPN1 Gene

  • Nervous system(4.8)
  • Liver(4.4)
  • Skin(4.3)
  • Muscle(3.2)
  • Eye(2.4)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PABPN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • mouth
  • neck
  • pharynx
Thorax:
  • esophagus
Abdomen:
  • stomach
Limb:
  • arm
  • forearm
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PABPN1: view

No data available for mRNA differential expression in normal tissues for PABPN1 Gene

Orthologs for PABPN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PABPN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PABPN1 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PABPN1 31 30
  • 97.93 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 97 (a)
OneToMany
cow
(Bos Taurus)
Mammalia PABPN1 31 30
  • 96.73 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 96 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pabpn1 17 31 30
  • 93.52 (n)
rat
(Rattus norvegicus)
Mammalia Pabpn1 30
  • 92.73 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8918 30
zebrafish
(Danio rerio)
Actinopterygii pabpn1 31
  • 61 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005117 30
  • 63.92 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pabp2 31 32 30
  • 62.68 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C17E4.5 32
  • 60 (a)
pabp-2 31 30
  • 56.76 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGN1 31
  • 21 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G10350 30
  • 57.55 (n)
rice
(Oryza sativa)
Liliopsida Os06g0219600 30
  • 56.98 (n)
corn
(Zea mays)
Liliopsida Zm.928 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1647 31
  • 67 (a)
OneToMany
Species where no ortholog for PABPN1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PABPN1 Gene

ENSEMBL:
Gene Tree for PABPN1 (if available)
TreeFam:
Gene Tree for PABPN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PABPN1: view image

Paralogs for PABPN1 Gene

Paralogs for PABPN1 Gene

(3) SIMAP similar genes for PABPN1 Gene using alignment to 4 proteins:

  • PABP2_HUMAN
  • B4DEH8_HUMAN
  • G3V4T2_HUMAN
  • H0YJH9_HUMAN

Pseudogenes.org Pseudogenes for PABPN1 Gene

genes like me logo Genes that share paralogs with PABPN1: view

Variants for PABPN1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PABPN1 Gene

PABP2_HUMAN-Q86U42
The poly-Ala region of PABPN1 is polymorphic (6-7 repeats) in the population and is expanded to 8-13 repeats in OPMD patients. Compound heterozygotes for (GCG)9 mutation and a (GCG)7 allele result in earlier onset and more severe clinical manifestations of the disease.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PABPN1 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
7366 Pathogenic: Oculopharyngeal muscular dystrophy 23,321,473(+) GCGGCGGCGGCGGCGG
803008 Pathogenic: Oculopharyngeal muscular dystrophy 23,321,481(+) G/GGCGGCGGCGGCA INFRAME_INSERTION,INTRON_VARIANT
rs104894466 Pathogenic: Oculopharyngeal muscular dystrophy 23,321,504(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
rs188436762 Benign: not specified 23,321,655(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs193922941 Pathogenic: not provided. Pathogenic: Oculopharyngeal muscular dystrophy; not provided 23,321,471(+) T/TGGCGGCT/TGGCGGCGGCGGC INITIATIOR_CODON_VARIANT,INFRAME_INSERTION,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PABPN1 Gene

Variation tolerance for PABPN1 Gene

Residual Variation Intolerance Score: 49.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PABPN1 Gene

Human Gene Mutation Database (HGMD)
PABPN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PABPN1

No data available for Structural Variations from Database of Genomic Variants (DGV) for PABPN1 Gene

Disorders for PABPN1 Gene

MalaCards: The human disease database

(27) MalaCards diseases for PABPN1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
oculopharyngeal muscular dystrophy
  • opmd
muscular dystrophy
  • muscular dystrophies
myopathy of extraocular muscle
  • myopathy of extraocular muscles
dysphagia
  • deglutition disorders
ptosis
  • blepharoptosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PABP2_HUMAN
  • Oculopharyngeal muscular dystrophy (OPMD) [MIM:164300]: A form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. {ECO:0000269 PubMed:12673802}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PABPN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PABPN1: view

No data available for Genatlas for PABPN1 Gene

Publications for PABPN1 Gene

  1. Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. (PMID: 12673802) van der Sluijs BM … Hoefsloot LH (Human mutation 2003) 3 4 23 54
  2. The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. (PMID: 11371506) Kim YJ … Arahata K (Human molecular genetics 2001) 3 4 23 54
  3. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. (PMID: 11689481) Fan X … Rouleau GA (Human molecular genetics 2001) 3 4 23 54
  4. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. (PMID: 11222452) Hill ME … Hammans SR (Brain : a journal of neurology 2001) 3 23 41 54
  5. Deciphering the cellular pathway for transport of poly(A)-binding protein II. (PMID: 10688363) Calado A … Carmo-Fonseca M (RNA (New York, N.Y.) 2000) 3 4 23 54

Products for PABPN1 Gene

Sources for PABPN1 Gene