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Aliases for PNMA2 Gene

Aliases for PNMA2 Gene

  • Paraneoplastic Ma Antigen 2 2 3
  • Paraneoplastic Neuronal Antigen MM2 3 4
  • 40 KDa Neuronal Protein 3 4
  • MA2 3 4
  • Retrotransposon Gag Domain Containing 2 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 (Paraneoplastic Ma Antigen 2) is a Protein Coding gene. Diseases associated with PNMA2 include third cranial nerve disease and oculomotor nerve paralysis. An important paralog of this gene is ZCCHC12.

Gene Wiki entry for PNMA2 Gene

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

Genomics for PNMA2 Gene

Regulatory Elements for PNMA2 Gene

Genomic Location for PNMA2 Gene

Chromosome:
8
Start:
26,504,679 bp from pter
End:
26,514,092 bp from pter
Size:
9,414 bases
Orientation:
Minus strand

Genomic View for PNMA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for PNMA2 Gene at MOPED

Post-translational modifications for PNMA2 Gene

  • Ubiquitination at Lys 54, Lys 112, Lys 256, and Lys 329
  • Modification sites at PhosphoSitePlus

Other Protein References for PNMA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PNMA2 Gene

Domains & Families for PNMA2 Gene

Gene Families for PNMA2 Gene

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

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

Phenotypes for PNMA2 Gene

GenomeRNAi human phenotypes for PNMA2:
genes like me logo Genes that share phenotypes with PNMA2: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for PNMA2 Gene COMPARTMENTS Subcellular localization image for PNMA2 gene
Compartment Confidence
nucleus 3
extracellular 2
plasma membrane 2
cytoskeleton 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for PNMA2 Gene

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

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

Unigene Clusters for PNMA2 Gene

Paraneoplastic Ma antigen 2:
Representative Sequences:

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 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, PaxDb, MOPED, and MaxQB for PNMA2 Gene



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.
genes like me logo Genes that share expression patterns with PNMA2: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia PNMA2 35
  • 83.7 (n)
  • 86.81 (a)
PNMA2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PNMA2 35
  • 87.18 (n)
  • 89.84 (a)
PNMA2 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pnma2 35
  • 77.11 (n)
  • 76.37 (a)
Pnma2 16
Pnma2 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PNMA2 35
  • 99.45 (n)
  • 99.18 (a)
PNMA2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnma2 35
  • 79.03 (n)
  • 79.4 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731379 35
  • 51.41 (n)
  • 37.29 (a)
Species with no ortholog for PNMA2:
  • 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)

Paralogs for PNMA2 Gene

Paralogs for PNMA2 Gene

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

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 Sequence Context AA Info Type MAF
rs138708461 -- 26,506,096(+) TCATC(A/G)TGATG utr-variant-3-prime
rs139161754 -- 26,508,233(+) TGGGG(A/C/G)TGGGA missense, reference
rs139489073 -- 26,508,217(+) CAAAG(C/G)ACTCT reference, missense
rs139556086 -- 26,505,028(+) TCACA(A/C)ATATA utr-variant-3-prime
rs140055082 -- 26,509,231(+) GCAGG(A/G)CGGCT utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv831273 CNV Loss 17160897
dgv7764n71 CNV Loss 21882294

Variation tolerance for PNMA2 Gene

Residual Variation Intolerance Score: 48.92% 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)

Relevant External Links for PNMA2 Gene

HapMap Linkage Disequilibrium report
PNMA2

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

Disorders for PNMA2 Gene

MalaCards: The human disease database

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

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

Relevant External Links for PNMA2

Genetic Association Database (GAD)
PNMA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (N. Engl. J. Med. 1999) 2 23 67
  2. Novel markers for enterochromaffin cells and gastrointestinal neuroendocrine carcinomas. (PMID: 18953328) Leja J. … Giandomenico V. (Mod. Pathol. 2009) 23 67
  3. Potassium channel antibodies in two patients with reversible limbic encephalitis. (PMID: 11456313) Buckley C. … Vincent A. (Ann. Neurol. 2001) 23 67
  4. Limbic encephalitis and antibodies to Ma2: a paraneoplastic presentation of breast cancer. (PMID: 10896708) Sutton I. … Dalmau J. (J. Neurol. Neurosurg. Psychiatr. 2000) 23 67
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67

Products for PNMA2 Gene

Sources for PNMA2 Gene

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