This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been ide... See more...

Aliases for PNMA5 Gene

Aliases for PNMA5 Gene

  • PNMA Family Member 5 2 3 5
  • Paraneoplastic Ma Antigen Family Member 5 2 3
  • Paraneoplastic Antigen-Like Protein 5 3 4
  • Tumor Antigen BJ-HCC-25 3 4
  • KIAA1934 2 4
  • Paraneoplastic Antigen Family 5 2
  • Paraneoplastic Antigen Like 5 2
  • PNMA5 5

External Ids for PNMA5 Gene

Previous GeneCards Identifiers for PNMA5 Gene

  • GC0XM146497
  • GC0XM148814
  • GC0XM149905
  • GC0XM150774
  • GC0XM151827
  • GC0XM151908
  • GC0XM152157
  • GC0XM140958

Summaries for PNMA5 Gene

Entrez Gene Summary for PNMA5 Gene

  • This gene encodes a member of the paraneoplastic Ma antigen protein family. These proteins have been implicated in the development of paraneoplastic disorders resulting from an immune response directed against them. Paraneoplastic disorders are the result of an abnormal immune response to a tumor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Oct 2011]

GeneCards Summary for PNMA5 Gene

PNMA5 (PNMA Family Member 5) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is PNMA3.

Additional gene information for PNMA5 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PNMA5 Gene

Genomics for PNMA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PNMA5 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
GH0XJ152992 Promoter 0.6 EPDnew 600.7 +2.3 2257 0.1 RFX1 SCRT2 BMI1 ATF2 SCRT1 RFX5 PNMA5 piR-46847-306 lnc-PNMA5-2 ZNF185
GH0XJ152993 Promoter 0.3 Ensembl 600.7 +1.8 1758 0.2 PNMA5 piR-46847-306 lnc-PNMA5-2 ZNF185
GH0XJ152940 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 10.3 +52.8 52757 2.2 CTCF TEAD4 PRDM10 ZNF692 TARDBP ZHX2 MTA2 ZNF143 RBFOX2 PKNOX1 lnc-PNMA5-4 ZNF185 PNMA5 piR-48507
GH0XJ152988 Promoter/Enhancer 0.8 Ensembl ENCODE 11.3 +5.2 5207 1.4 ZNF513 ATF3 EGR2 SPI1 PNMA5 piR-46847-306 ZNF185
GH0XJ153003 Enhancer 0.3 ENCODE 10.8 -9.8 -9836 1.2 FOXA1 ENSG00000234200 PNMA3 PNMA5 lnc-PNMA5-1 piR-60985-145 lnc-PNMA5-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNMA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PNMA5

Top Transcription factor binding sites by QIAGEN in the PNMA5 gene promoter:
  • AML1a
  • C/EBPbeta
  • COUP-TF
  • COUP-TF1
  • CP2
  • GATA-2
  • HNF-4alpha1
  • HNF-4alpha2
  • Lhx3a
  • LHX3b

Genomic Locations for PNMA5 Gene

Genomic Locations for PNMA5 Gene
chrX:152,988,824-152,994,458
(GRCh38/hg38)
Size:
5,635 bases
Orientation:
Minus strand
chrX:152,157,368-152,162,671
(GRCh37/hg19)
Size:
5,304 bases
Orientation:
Minus strand

Genomic View for PNMA5 Gene

Genes around PNMA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNMA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNMA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNMA5 Gene

Proteins for PNMA5 Gene

  • Protein details for PNMA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PV4-PNMA5_HUMAN
    Recommended name:
    Paraneoplastic antigen-like protein 5
    Protein Accession:
    Q96PV4
    Secondary Accessions:
    • B4DI72
    • B7Z9Y9
    • Q495L5
    • Q8NET3

    Protein attributes for PNMA5 Gene

    Size:
    448 amino acids
    Molecular mass:
    49934 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB67827.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

neXtProt entry for PNMA5 Gene

Post-translational modifications for PNMA5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PNMA5 Gene

Domains & Families for PNMA5 Gene

Gene Families for PNMA5 Gene

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

Protein Domains for PNMA5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PNMA5 Gene

GenScript: Design optimal peptide antigens:
  • Tumor antigen BJ-HCC-25 (PNMA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96PV4

UniProtKB/Swiss-Prot:

PNMA5_HUMAN :
  • Belongs to the PNMA family.
Family:
  • Belongs to the PNMA family.
genes like me logo Genes that share domains with PNMA5: view

Function for PNMA5 Gene

Gene Ontology (GO) - Molecular Function for PNMA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042802 identical protein binding IPI 25416956
genes like me logo Genes that share ontologies with PNMA5: view
genes like me logo Genes that share phenotypes with PNMA5: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNMA5

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PNMA5 Gene

Localization for PNMA5 Gene

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 PNMA5 gene
Compartment Confidence
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for PNMA5 Gene

Pathways & Interactions for PNMA5 Gene

PathCards logo

SuperPathways for PNMA5 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PNMA5 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 PNMA5: view

No data available for Pathways by source and SIGNOR curated interactions for PNMA5 Gene

Drugs & Compounds for PNMA5 Gene

No Compound Related Data Available

Transcripts for PNMA5 Gene

mRNA/cDNA for PNMA5 Gene

4 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 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 PNMA5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PNMA5 Gene

No ASD Table

Relevant External Links for PNMA5 Gene

GeneLoc Exon Structure for
PNMA5

Expression for PNMA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PNMA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for PNMA5 Gene

This gene is overexpressed in Brain - Hypothalamus (x11.9), Brain - Nucleus accumbens (basal ganglia) (x7.2), Brain - Anterior cingulate cortex (BA24) (x5.9), Testis (x5.6), Brain - Amygdala (x5.3), and Brain - Cortex (x4.6).

Protein differential expression in normal tissues from HIPED for PNMA5 Gene

This gene is overexpressed in Bone (37.3) and Testis (25.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PNMA5 Gene



Protein tissue co-expression partners for PNMA5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PNMA5

SOURCE GeneReport for Unigene cluster for PNMA5 Gene:

Hs.573567

mRNA Expression by UniProt/SwissProt for PNMA5 Gene:

Q96PV4-PNMA5_HUMAN
Tissue specificity: Expressed in the brain.

Evidence on tissue expression from TISSUES for PNMA5 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PNMA5: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PNMA5 Gene

Orthologs for PNMA5 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PNMA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PNMA5 30 31
  • 98.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PNMA5 30
  • 73.68 (n)
Rat
(Rattus norvegicus)
Mammalia Pnma5 30
  • 70.81 (n)
Mouse
(Mus musculus)
Mammalia Pnma5 30 17 31
  • 70.62 (n)
OneToOne
Species where no ortholog for PNMA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Dog (Canis familiaris)
  • 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 Vase (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)
  • Zebrafish (Danio rerio)

Evolution for PNMA5 Gene

ENSEMBL:
Gene Tree for PNMA5 (if available)
TreeFam:
Gene Tree for PNMA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNMA5: view image

Paralogs for PNMA5 Gene

(9) SIMAP similar genes for PNMA5 Gene using alignment to 2 proteins:

  • PNMA5_HUMAN
  • C9J4L3_HUMAN
genes like me logo Genes that share paralogs with PNMA5: view

Variants for PNMA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PNMA5 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
720973 Benign: not provided 152,990,699(-) G/A SYNONYMOUS_VARIANT
720974 Benign: not provided 152,990,912(-) G/A SYNONYMOUS_VARIANT
736947 Benign: not provided 152,990,347(-) T/A MISSENSE_VARIANT
756325 Benign: not provided 152,990,660(-) C/A SYNONYMOUS_VARIANT
rs3810654 - p.Arg349Trp

Additional dbSNP identifiers (rs#s) for PNMA5 Gene

Structural Variations from Database of Genomic Variants (DGV) for PNMA5 Gene

Variant ID Type Subtype PubMed ID
esv2678287 CNV deletion 23128226
esv2740625 CNV deletion 23290073
nsv510868 CNV deletion 20534489

Variation tolerance for PNMA5 Gene

Residual Variation Intolerance Score: 63.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNMA5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNMA5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PNMA5 Gene

Disorders for PNMA5 Gene

No disorders were found for PNMA5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PNMA5 Gene

Publications for PNMA5 Gene

  1. The human PNMA family: novel neuronal proteins implicated in paraneoplastic neurological disease. (PMID: 16214224) Schüller M … Voltz R (Journal of neuroimmunology 2005) 2 3
  2. Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins. (PMID: 11572484) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. (PMID: 31515488) Fragoza R … Yu H (Nature communications 2019) 3
  5. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. (PMID: 29892012) Chen S … Yu H (Nature genetics 2018) 3

Products for PNMA5 Gene

  • Signalway Proteins for PNMA5

Sources for PNMA5 Gene