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Aliases for PNMA2 Gene

Aliases for PNMA2 Gene

  • PNMA Family Member 2 2 3 5
  • Paraneoplastic Neuronal Antigen MM2 3 4
  • Paraneoplastic Ma Antigen 2 2 3
  • 40 KDa Neuronal Protein 3 4
  • MA2 3 4
  • Retrotransposon Gag Domain Containing 2 3
  • Paraneoplastic Antigen Ma2 3
  • Paraneoplastic Antigen MA2 2
  • Onconeuronal Antigen MA2 3
  • Onconeuronal Antigen Ma2 4
  • KIAA0883 4
  • RGAG2 3
  • MM2 3

External Ids for PNMA2 Gene

Previous GeneCards Identifiers for PNMA2 Gene

  • GC08M026135
  • GC08M026717
  • GC08M026384
  • GC08M026418
  • GC08M024907

Summaries for PNMA2 Gene

GeneCards Summary for PNMA2 Gene

PNMA2 (PNMA Family Member 2) is a Protein Coding gene. Diseases associated with PNMA2 include Limbic Encephalitis and Third Cranial Nerve Disease. An important paralog of this gene is PNMA3.

Gene Wiki entry for PNMA2 Gene

Additional gene information for PNMA2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PNMA2 Gene

Genomics for PNMA2 Gene

GeneHancer (GH) Regulatory Elements for PNMA2 Gene

Promoters and enhancers for PNMA2 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
GH08J026513 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 657.7 +0.1 91 0.4 ZNF473 ZSCAN4 KLF17 KLF14 ZNF2 YY1 ZNF335 GLIS2 ZNF366 KLF7 PNMA2 DPYSL2 LOC105379337
GH08J026518 Promoter/Enhancer 1.2 Ensembl ENCODE 650.7 -0.5 -509 0.4 CTCF MXI1 KLF1 ZNF473 KLF17 SIN3A KLF14 ZNF335 ZFHX2 ZBTB48 DPYSL2 PNMA2 GC08P026534
GH08J026517 Enhancer 0.9 ENCODE 660.9 +1.9 1882 0.2 INSM2 KLF17 MZF1 FEZF1 ZNF2 ZNF335 ZNF213 ZNF366 ZSCAN5C ZNF362 PNMA2 DPYSL2 LOC105379337
GH08J026512 Enhancer 0.8 ENCODE 650.7 +1.5 1534 0.2 KLF17 MZF1 ZNF2 ZNF335 GLIS2 ZNF366 ZNF362 ZBTB11 ZNF398 ZEB2 DPYSL2 PNMA2 LOC105379337
GH08J026519 Enhancer 0.8 ENCODE 650.7 +0.5 472 0.2 ZSCAN4 KLF14 ZNF2 YY1 ZNF335 ZNF280D SP3 ZBTB11 ZNF398 TSHZ1 DPYSL2 PNMA2 LOC105379337
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNMA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PNMA2 gene promoter:
  • Lmo2
  • FOXL1
  • Egr-4
  • MyoD
  • Pax-5
  • GATA-1
  • AP-4
  • HEN1
  • AML1a

Genomic Locations for PNMA2 Gene

Genomic Locations for PNMA2 Gene
chr8:26,504,679-26,514,092
(GRCh38/hg38)
Size:
9,414 bases
Orientation:
Minus strand
chr8:26,362,196-26,371,608
(GRCh37/hg19)
Size:
9,413 bases
Orientation:
Minus strand

Genomic View for PNMA2 Gene

Genes around PNMA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNMA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNMA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNMA2 Gene

Proteins for PNMA2 Gene

  • Protein details for PNMA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UL42-PNMA2_HUMAN
    Recommended name:
    Paraneoplastic antigen Ma2
    Protein Accession:
    Q9UL42
    Secondary Accessions:
    • B3KNY9
    • O94959
    • O95145
    • Q49A18
    • Q9UL43

    Protein attributes for PNMA2 Gene

    Size:
    364 amino acids
    Molecular mass:
    41509 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Antibodies against PNMA2 are present in sera from patients suffering of paraneoplastic neurological disorders.
    SequenceCaution:
    • Sequence=BAA74906.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PNMA2 Gene

Post-translational modifications for PNMA2 Gene

  • Ubiquitination at posLast=329329, posLast=256256, Lys112, and posLast=5454
  • Modification sites at PhosphoSitePlus

Other Protein References for PNMA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PNMA2
  • Boster Bio Antibodies for PNMA2
  • Santa Cruz Biotechnology (SCBT) Antibodies for PNMA2

No data available for DME Specific Peptides for PNMA2 Gene

Domains & Families for PNMA2 Gene

Gene Families for PNMA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PNMA2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PNMA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UL42

UniProtKB/Swiss-Prot:

PNMA2_HUMAN :
  • Belongs to the PNMA family.
Family:
  • Belongs to the PNMA family.
genes like me logo Genes that share domains with PNMA2: view

Function for PNMA2 Gene

Phenotypes From GWAS Catalog for PNMA2 Gene

Gene Ontology (GO) - Molecular Function for PNMA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
genes like me logo Genes that share ontologies with PNMA2: view
genes like me logo Genes that share phenotypes with PNMA2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNMA2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PNMA2 Gene

Localization for PNMA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PNMA2 Gene

Nucleus, nucleolus.

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 PNMA2 gene
Compartment Confidence
nucleus 4
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PNMA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with PNMA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PNMA2 Gene

Pathways & Interactions for PNMA2 Gene

SuperPathways for PNMA2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PNMA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043065 positive regulation of apoptotic process ISS --
genes like me logo Genes that share ontologies with PNMA2: view

No data available for Pathways by source and SIGNOR curated interactions for PNMA2 Gene

Drugs & Compounds for PNMA2 Gene

No Compound Related Data Available

Transcripts for PNMA2 Gene

mRNA/cDNA for PNMA2 Gene

Unigene Clusters for PNMA2 Gene

Paraneoplastic Ma antigen 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNMA2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNMA2 Gene

No ASD Table

Relevant External Links for PNMA2 Gene

GeneLoc Exon Structure for
PNMA2
ECgene alternative splicing isoforms for
PNMA2

Expression for PNMA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PNMA2 Gene

mRNA differential expression in normal tissues according to GTEx for PNMA2 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x8.8), Brain - Anterior cingulate cortex (BA24) (x6.8), Brain - Hypothalamus (x5.9), and Brain - Nucleus accumbens (basal ganglia) (x5.4).

Protein differential expression in normal tissues from HIPED for PNMA2 Gene

This gene is overexpressed in Liver (7.8), Serum (7.3), and Adrenal (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PNMA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of PNMA2 Gene:

PNMA2

SOURCE GeneReport for Unigene cluster for PNMA2 Gene:

Hs.591838

mRNA Expression by UniProt/SwissProt for PNMA2 Gene:

Q9UL42-PNMA2_HUMAN
Tissue specificity: Brain-specific. In some cancer patients, specifically expressed by testicular tumor cells.

Evidence on tissue expression from TISSUES for PNMA2 Gene

  • Nervous system(5)
  • Muscle(2.3)
  • Blood(2)
  • Heart(2)
genes like me logo Genes that share expression patterns with PNMA2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PNMA2 Gene

Orthologs for PNMA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PNMA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNMA2 34 33
  • 99.45 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PNMA2 34 33
  • 87.18 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PNMA2 34 33
  • 83.7 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnma2 33
  • 79.03 (n)
mouse
(Mus musculus)
Mammalia Pnma2 16 34 33
  • 77.11 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731379 33
  • 51.41 (n)
Species where no ortholog for PNMA2 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PNMA2 Gene

ENSEMBL:
Gene Tree for PNMA2 (if available)
TreeFam:
Gene Tree for PNMA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNMA2: view image

Paralogs for PNMA2 Gene

(9) SIMAP similar genes for PNMA2 Gene using alignment to 2 proteins:

  • PNMA2_HUMAN
  • Q5U5Z3_HUMAN
genes like me logo Genes that share paralogs with PNMA2: view

Variants for PNMA2 Gene

Sequence variations from dbSNP and Humsavar for PNMA2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000312413 -- 26,509,640(-) G/T 5_prime_UTR_variant
rs1000427036 -- 26,509,300(-) A/C intron_variant
rs1000619883 -- 26,515,013(-) C/T upstream_transcript_variant
rs1000702926 -- 26,509,222(-) C/T 5_prime_UTR_variant
rs1001064340 -- 26,515,004(-) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PNMA2 Gene

Variant ID Type Subtype PubMed ID
esv3616666 OTHER inversion 21293372
nsv1019057 CNV gain 25217958
nsv831273 CNV loss 17160897

Variation tolerance for PNMA2 Gene

Residual Variation Intolerance Score: 48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.68; 78.54% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNMA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNMA2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNMA2 Gene

Disorders for PNMA2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PNMA2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
limbic encephalitis
third cranial nerve disease
  • oculomotor nerve paralysis
oculomotor nerve paralysis
  • iii nerve palsy
agraphia
lateral medullary syndrome
  • posterior inferior cerebellar artery syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PNMA2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PNMA2

genes like me logo Genes that share disorders with PNMA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PNMA2 Gene

Publications for PNMA2 Gene

  1. A serologic marker of paraneoplastic limbic and brain-stem encephalitis in patients with testicular cancer. (PMID: 10362822) Voltz R … Dalmau J (The New England journal of medicine 1999) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Molecular and clinical diversity in paraneoplastic immunity to Ma proteins. (PMID: 11558790) Rosenfeld MR … Dalmau J (Annals of neurology 2001) 3 4 58
  5. Ma1, a novel neuron- and testis-specific protein, is recognized by the serum of patients with paraneoplastic neurological disorders. (PMID: 10050892) Dalmau J … Rosenfeld MR (Brain : a journal of neurology 1999) 3 4 58

Products for PNMA2 Gene

Sources for PNMA2 Gene

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