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Aliases for PNMA8A Gene

Aliases for PNMA8A Gene

  • PNMA Family Member 8A 2 3 5
  • Paraneoplastic Ma Antigen Family Member 8A 2 3
  • Paraneoplastic Ma Antigen Family Like 1 2 3
  • PNMA-Like Protein 1 3 4
  • PNMAL1 3 4
  • Paraneoplastic Antigen-Like Protein 8A 3
  • PNMA-Like 1 2

External Ids for PNMA8A Gene

Previous HGNC Symbols for PNMA8A Gene

  • PNMAL1

Summaries for PNMA8A Gene

GeneCards Summary for PNMA8A Gene

PNMA8A (PNMA Family Member 8A) is a Protein Coding gene. An important paralog of this gene is PNMA8B.

Gene Wiki entry for PNMA8A Gene

Additional gene information for PNMA8A 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 PNMA8A Gene

Genomics for PNMA8A Gene

GeneHancer (GH) Regulatory Elements for PNMA8A Gene

Promoters and enhancers for PNMA8A 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
GH19J046470 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 721.5 +0.1 137 2.4 HDAC1 ATF1 RB1 BMI1 POLR2B EGR1 ATF7 CREM ZNF263 SMAD5 PNMA8A PIR53449 ZC3H4 CCDC61 ENSG00000268810 QPCTL SYMPK FBXO46 PIR53221 GC19M046472
GH19J046472 Enhancer 0.6 ENCODE dbSUPER 650.7 -1.3 -1311 0.3 RFX1 SP7 PNMA8A PIR53449 GC19P046479 GC19M046472
GH19J047225 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 24.6 -757.8 -757818 8.2 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 BBC3 BICRA ENSG00000268810 NOP53-AS1 CCDC9 NOP53 ENSG00000269321 SNORD23 PPP5D1 INAFM1
GH19J046465 Enhancer 1 Ensembl ENCODE dbSUPER 54.1 +4.7 4662 2.3 JUNB EBF1 BATF IRF4 JUND FOS FOSL2 CREM RUNX3 PIR53221 PNMA8A GC19P046447 PIR47325
GH19J046487 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 27.8 -16.4 -16418 1.2 RB1 SIN3A ZNF2 RAD21 ZNF335 ZNF213 ARID2 ZNF143 ZFP91 RUNX3 PNMA8A DM1-AS ENSG00000259605 ENSG00000204850 GC19P046479 PNMA8B GC19M046472 PPP5D1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PNMA8A on UCSC Golden Path with GeneCards custom track

Genomic Locations for PNMA8A Gene

Genomic Locations for PNMA8A Gene
chr19:46,466,491-46,471,563
(GRCh38/hg38)
Size:
5,073 bases
Orientation:
Minus strand
chr19:46,969,748-46,974,820
(GRCh37/hg19)
Size:
5,073 bases
Orientation:
Minus strand

Genomic View for PNMA8A Gene

Genes around PNMA8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PNMA8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PNMA8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PNMA8A Gene

Proteins for PNMA8A Gene

  • Protein details for PNMA8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86V59-PNM8A_HUMAN
    Recommended name:
    Paraneoplastic antigen-like protein 8A
    Protein Accession:
    Q86V59
    Secondary Accessions:
    • A8K2F3
    • Q5U638
    • Q8N3H4
    • Q9NVE8

    Protein attributes for PNMA8A Gene

    Size:
    439 amino acids
    Molecular mass:
    48161 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA91804.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAF82907.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence={ECO:0000305}; Sequence=BAF82907.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=EAW57420.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PNMA8A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PNMA8A Gene

Post-translational modifications for PNMA8A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PNMA8A Gene

No data available for DME Specific Peptides for PNMA8A Gene

Domains & Families for PNMA8A Gene

Gene Families for PNMA8A Gene

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

Protein Domains for PNMA8A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PNMA8A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86V59

UniProtKB/Swiss-Prot:

PNM8A_HUMAN :
  • Belongs to the PNMA family.
Family:
  • Belongs to the PNMA family.
genes like me logo Genes that share domains with PNMA8A: view

Function for PNMA8A Gene

Phenotypes From GWAS Catalog for PNMA8A Gene

genes like me logo Genes that share phenotypes with PNMA8A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNMA8A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PNMA8A Gene

Localization for PNMA8A 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 PNMA8A gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PNMA8A Gene

Pathways & Interactions for PNMA8A Gene

SuperPathways for PNMA8A Gene

No Data Available

Interacting Proteins for PNMA8A Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000318131%0d%0a9606.ENSP00000318914%0d%0a
Selected Interacting proteins: Q86V59-PNM8A_HUMAN ENSP00000318131 for PNMA8A Gene via IID STRING

Gene Ontology (GO) - Biological Process for PNMA8A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PNMA8A Gene

Drugs & Compounds for PNMA8A Gene

No Compound Related Data Available

Transcripts for PNMA8A Gene

mRNA/cDNA for PNMA8A Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PNMA8A

Alternative Splicing Database (ASD) splice patterns (SP) for PNMA8A Gene

No ASD Table

Relevant External Links for PNMA8A Gene

GeneLoc Exon Structure for
PNMA8A
ECgene alternative splicing isoforms for
PNMA8A

Expression for PNMA8A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of PNMA8A Gene:

PNMA8A

Evidence on tissue expression from TISSUES for PNMA8A Gene

  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with PNMA8A: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PNMA8A Gene

Orthologs for PNMA8A Gene

This gene was present in the common ancestor of mammals.

Orthologs for PNMA8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PNMAL1 34 33
  • 99.16 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC102151906 33
  • 81.25 (n)
PNMAL1 34
  • 65 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PNMAL1 34 33
  • 77.88 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pnmal1 33
  • 73.36 (n)
mouse
(Mus musculus)
Mammalia Pnmal1 16 34 33
  • 72.37 (n)
Species where no ortholog for PNMA8A 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PNMA8A Gene

ENSEMBL:
Gene Tree for PNMA8A (if available)
TreeFam:
Gene Tree for PNMA8A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PNMA8A: view image

Paralogs for PNMA8A Gene

genes like me logo Genes that share paralogs with PNMA8A: view

Variants for PNMA8A Gene

Sequence variations from dbSNP and Humsavar for PNMA8A Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000414505 -- 46,468,419(-) C/T 3_prime_UTR_variant
rs1001792755 -- 46,472,943(-) T/A upstream_transcript_variant
rs1001874990 -- 46,469,329(-) T/C intron_variant
rs1001927521 -- 46,469,024(-) T/C intron_variant
rs1002576586 -- 46,472,025(-) G/A upstream_transcript_variant

Variation tolerance for PNMA8A Gene

Residual Variation Intolerance Score: 67.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.07; 68.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PNMA8A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PNMA8A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PNMA8A Gene

Disorders for PNMA8A Gene

No disorders were found for PNMA8A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PNMA8A Gene

Publications for PNMA8A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Genome-wide diet-gene interaction analyses for risk of colorectal cancer. (PMID: 24743840) Figueiredo JC … GECCO (PLoS genetics 2014) 3 58

Products for PNMA8A Gene

Sources for PNMA8A Gene

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