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Aliases for TMEM8A Gene

Aliases for TMEM8A Gene

  • Transmembrane Protein 8A 2 3 4 5
  • Transmembrane Protein 6 2 3 4
  • Post-Glycosylphosphatidylinositol Attachment To Proteins 6 2 3
  • Transmembrane Protein 8 (Five Membrane-Spanning Domains) 2 3
  • GPI Processing Phospholipase A2 3 4
  • GPI-PLA2 3 4
  • TMEM6 3 4
  • TMEM8 3 4
  • PGAP6 3 4
  • Post-GPI Attachment To Proteins Factor 6 3
  • Five-Span Transmembrane Protein M83 3
  • Transmembrane Protein 8 4
  • Protein M83 4
  • EC 3.1.1.4 4
  • M83 3

External Ids for TMEM8A Gene

Previous HGNC Symbols for TMEM8A Gene

  • TMEM6
  • TMEM8

Summaries for TMEM8A Gene

GeneCards Summary for TMEM8A Gene

TMEM8A (Transmembrane Protein 8A) is a Protein Coding gene. An important paralog of this gene is TMEM8B.

UniProtKB/Swiss-Prot for TMEM8A Gene

  • Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP TDGF1, but not CFC1, at the cell surface. Shedding of TDGF1 modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells (PubMed:27881714). Also indirectly involved in the translocation of RAC1 from the cytosol to the plasma membrane by maintaining the steady state amount of CAV1-enriched plasma membrane subdomains, stabilizing RAC1 at the plasma membrane (PubMed:27835684). In contrast to myomaker (TMEM8C), has no fusogenic activity (PubMed:26858401).

Additional gene information for TMEM8A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM8A Gene

Genomics for TMEM8A Gene

GeneHancer (GH) Regulatory Elements for TMEM8A Gene

Promoters and enhancers for TMEM8A 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
GH16I000378 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 592.4 +5.4 5374 6.1 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 ETS1 SLC30A9 GLIS2 FOS TMEM8A LOC100134368 MRPL28 ENSG00000228779 LOC105371036
GH16I000386 Enhancer 1.3 Ensembl ENCODE dbSUPER 559.9 -0.9 -850 3.6 HDAC1 PKNOX1 ATF1 ZBTB40 TCF12 EGR1 ATF7 KDM4B ZNF362 PHF21A TMEM8A LOC105371036 RPL23AP5 GC16P000483 AXIN1 WASH4P ENSG00000261505 RHOT2 PIGQ NHLRC4
GH16I000369 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 45.8 +16.6 16599 2.3 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A NCOA2 ETS1 GLIS2 E2F8 MRPL28 TMEM8A WDR90 WDR24 AXIN1
GH16I000351 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 25.4 +33.2 33208 5.8 ARID4B SIN3A DMAP1 ZBTB7B TCF12 GLIS2 ZNF143 KLF13 SP3 SP5 AXIN1 TMEM8A MRPL28 ARHGDIG NME4 HBZ PIR38678
GH16I000358 Enhancer 1.4 Ensembl ENCODE dbSUPER 35.6 +25.1 25066 6.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF48 ZNF143 AXIN1 TMEM8A MRPL28 ARHGDIG
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM8A on UCSC Golden Path with GeneCards custom track

Genomic Locations for TMEM8A Gene

Genomic Locations for TMEM8A Gene
chr16:370,773-387,113
(GRCh38/hg38)
Size:
16,341 bases
Orientation:
Minus strand
chr16:420,773-437,113
(GRCh37/hg19)

Genomic View for TMEM8A Gene

Genes around TMEM8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM8A Gene

Proteins for TMEM8A Gene

  • Protein details for TMEM8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCN3-TMM8A_HUMAN
    Recommended name:
    Post-GPI attachment to proteins factor 6
    Protein Accession:
    Q9HCN3
    Secondary Accessions:
    • D3DU49
    • Q4TT35
    • Q8WU24
    • Q96S25
    • Q9BR03
    • Q9BT97
    • Q9H7B9

    Protein attributes for TMEM8A Gene

    Size:
    771 amino acids
    Molecular mass:
    84761 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14975.1; Type=Erroneous termination; Positions=750; Note=Translated as Ser.; Evidence={ECO:0000305};

neXtProt entry for TMEM8A Gene

Post-translational modifications for TMEM8A Gene

  • Glycosylated.
  • Glycosylation at isoforms=144, isoforms=232, isoforms=407, isoforms=431, and posLast=535535

Other Protein References for TMEM8A Gene

No data available for DME Specific Peptides for TMEM8A Gene

Domains & Families for TMEM8A Gene

Gene Families for TMEM8A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for TMEM8A Gene

Graphical View of Domain Structure for InterPro Entry

Q9HCN3

UniProtKB/Swiss-Prot:

TMM8A_HUMAN :
  • Belongs to the TMEM8 family.
Family:
  • Belongs to the TMEM8 family.
genes like me logo Genes that share domains with TMEM8A: view

Function for TMEM8A Gene

Molecular function for TMEM8A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Phosphatidylcholine + H(2)O = 1-acylglycerophosphocholine + a carboxylate.
UniProtKB/Swiss-Prot Function:
Involved in the lipid remodeling steps of GPI-anchor maturation. Lipid remodeling steps consist in the generation of 2 saturated fatty chains at the sn-2 position of GPI-anchor proteins (GPI-AP). Has phospholipase A2 activity that removes an acyl-chain at the sn-2 position of GPI-anchors during the remodeling of GPI. Required for the shedding of the GPI-AP TDGF1, but not CFC1, at the cell surface. Shedding of TDGF1 modulates Nodal signaling by allowing soluble TDGF1 to act as a Nodal coreceptor on other cells (PubMed:27881714). Also indirectly involved in the translocation of RAC1 from the cytosol to the plasma membrane by maintaining the steady state amount of CAV1-enriched plasma membrane subdomains, stabilizing RAC1 at the plasma membrane (PubMed:27835684). In contrast to myomaker (TMEM8C), has no fusogenic activity (PubMed:26858401).
UniProtKB/Swiss-Prot Induction:
Repressed during activation of CD4+ and CD8+ T-lymphocytes.

Enzyme Numbers (IUBMB) for TMEM8A Gene

Phenotypes From GWAS Catalog for TMEM8A Gene

Gene Ontology (GO) - Molecular Function for TMEM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004623 phospholipase A2 activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0016787 hydrolase activity IEA --
GO:0102567 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) IEA --
genes like me logo Genes that share ontologies with TMEM8A: view
genes like me logo Genes that share phenotypes with TMEM8A: view

Animal Model Products

miRNA for TMEM8A Gene

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM8A Gene

Localization for TMEM8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM8A Gene

Cell membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

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 TMEM8A gene
Compartment Confidence
plasma membrane 5
extracellular 5
lysosome 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytokinetic bridge (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane HDA,IEA 17897319
GO:0005886 plasma membrane IBA --
GO:0005887 integral component of plasma membrane NAS 11006113
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TMEM8A: view

Pathways & Interactions for TMEM8A Gene

SuperPathways for TMEM8A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with TMEM8A: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM8A Gene

Drugs & Compounds for TMEM8A Gene

No Compound Related Data Available

Transcripts for TMEM8A Gene

Unigene Clusters for TMEM8A Gene

Transmembrane protein 8A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM8A Gene

No ASD Table

Relevant External Links for TMEM8A Gene

GeneLoc Exon Structure for
TMEM8A
ECgene alternative splicing isoforms for
TMEM8A

Expression for TMEM8A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM8A Gene

mRNA differential expression in normal tissues according to GTEx for TMEM8A Gene

This gene is overexpressed in Whole Blood (x6.3).

Protein differential expression in normal tissues from HIPED for TMEM8A Gene

This gene is overexpressed in Placenta (37.5), Testis (23.3), and Spleen (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TMEM8A Gene



Protein tissue co-expression partners for TMEM8A Gene

NURSA nuclear receptor signaling pathways regulating expression of TMEM8A Gene:

TMEM8A

SOURCE GeneReport for Unigene cluster for TMEM8A Gene:

Hs.288940

mRNA Expression by UniProt/SwissProt for TMEM8A Gene:

Q9HCN3-TMM8A_HUMAN
Tissue specificity: Expressed in pancreas, placenta, spleen, liver, kidney, bone marrow, peripheral blood leukocytes and tonsil.

Evidence on tissue expression from TISSUES for TMEM8A Gene

  • Pancreas(4.3)
  • Skin(4.1)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with TMEM8A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM8A Gene

Orthologs for TMEM8A Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM8A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM8A 33 34
  • 98.96 (n)
cow
(Bos Taurus)
Mammalia TMEM8A 33
  • 81.88 (n)
TMEM8 34
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM8A 33 34
  • 81.3 (n)
mouse
(Mus musculus)
Mammalia Tmem8 33 16 34
  • 79.89 (n)
rat
(Rattus norvegicus)
Mammalia Tmem8a 33
  • 79.71 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM8A 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 56 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 55 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TMEM8A 34
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii tmem8a 34
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG13654 34
  • 17 (a)
OneToMany
Species where no ortholog for TMEM8A 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)
  • 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)
  • 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 (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)

Evolution for TMEM8A Gene

ENSEMBL:
Gene Tree for TMEM8A (if available)
TreeFam:
Gene Tree for TMEM8A (if available)

Paralogs for TMEM8A Gene

Paralogs for TMEM8A Gene

(2) SIMAP similar genes for TMEM8A Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TMEM8A: view

Variants for TMEM8A Gene

Sequence variations from dbSNP and Humsavar for TMEM8A Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000029973 -- 380,988(-) G/T intron_variant
rs1000215874 -- 377,320(-) G/A intron_variant
rs1000242285 -- 380,240(-) G/A intron_variant
rs1000817892 -- 376,614(-) C/A coding_sequence_variant, synonymous_variant
rs1001168499 -- 381,741(-) G/C coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM8A Gene

Variant ID Type Subtype PubMed ID
nsv952897 CNV deletion 24416366
nsv827478 CNV gain 20364138
nsv570956 CNV gain 21841781
nsv570954 CNV loss 21841781
nsv517471 CNV loss 19592680
esv3637570 CNV gain 21293372
esv3637569 CNV loss 21293372
esv3637563 CNV gain 21293372
esv33562 CNV loss 17666407
esv2422427 CNV duplication 17116639
dgv4810n54 CNV loss 21841781
dgv4809n54 CNV loss 21841781
dgv32n68 CNV loss 17160897

Variation tolerance for TMEM8A Gene

Residual Variation Intolerance Score: 83.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.11; 69.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM8A Gene

Human Gene Mutation Database (HGMD)
TMEM8A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM8A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM8A Gene

Disorders for TMEM8A Gene

Additional Disease Information for TMEM8A

No disorders were found for TMEM8A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMEM8A Gene

Publications for TMEM8A Gene

  1. Molecular cloning and chromosomal mapping of a novel five-span transmembrane protein gene, M83. (PMID: 11006113) Motohashi T … Nakauchi H (Biochemical and biophysical research communications 2000) 2 3 4 22 58
  2. A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTO. (PMID: 27881714) Lee GH … Kinoshita T (The Journal of cell biology 2016) 3 4 58
  3. Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. (PMID: 21752829) Palmieri M … Ballabio A (Human molecular genetics 2011) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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

Products for TMEM8A Gene

Sources for TMEM8A Gene

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