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Aliases for TMEM14A Gene

Aliases for TMEM14A Gene

  • Transmembrane Protein 14A 2 3 5
  • C6orf73 3 4
  • PTD011 3

External Ids for TMEM14A Gene

Previous GeneCards Identifiers for TMEM14A Gene

  • GC06P052538
  • GC06P052582
  • GC06P052643
  • GC06P052535
  • GC06P052367

Summaries for TMEM14A Gene

GeneCards Summary for TMEM14A Gene

TMEM14A (Transmembrane Protein 14A) is a Protein Coding gene. Diseases associated with TMEM14A include Epilepsy, Idiopathic Generalized 10. An important paralog of this gene is TMEM14C.

UniProtKB/Swiss-Prot for TMEM14A Gene

  • Inhibits apoptosis via negative regulation of the mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway.

Additional gene information for TMEM14A 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 TMEM14A Gene

Genomics for TMEM14A Gene

GeneHancer (GH) Regulatory Elements for TMEM14A Gene

Promoters and enhancers for TMEM14A 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
GH06I052670 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 234 1.8 HDGF SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 TMEM14A LOC730101 MCM3 TRAM2 ENSG00000271227
GH06I052672 Enhancer 0.7 ENCODE 550.8 +1.6 1562 0.2 JUN MAX KLF17 FOSL1 SMARCC2 RCOR1 FOSL2 FOS PRDM10 SMARCE1 TMEM14A EFHC1 ICK ENSG00000271227
GH06I052673 Enhancer 0.4 ENCODE 550.8 +1.2 1243 0.1 SMARCC1 SMARCC2 FOSL2 TMEM14A ENSG00000271227
GH06I052723 Enhancer 1.4 FANTOM5 Ensembl ENCODE 17.9 +54.1 54135 3.6 PKNOX1 FOXA2 MLX ZFP64 ARID4B DMAP1 IRF4 YY1 ZNF143 FOS TMEM14A LOC730101 GSTA3 PIR31960 GSTA7P
GH06I052663 Promoter/Enhancer 1.5 Ensembl ENCODE 7.1 -6.7 -6692 2.5 PKNOX1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 POLR2B E2F8 ZNF207 LOC730101 MCM3 EFHC1 TRAM2 TRAM2-AS1 ICK TMEM14A GC06P052657
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TMEM14A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM14A gene promoter:

Genomic Locations for TMEM14A Gene

Genomic Locations for TMEM14A Gene
chr6:52,671,086-52,686,588
(GRCh38/hg38)
Size:
15,503 bases
Orientation:
Plus strand
chr6:52,535,884-52,551,386
(GRCh37/hg19)

Genomic View for TMEM14A Gene

Genes around TMEM14A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM14A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM14A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM14A Gene

Proteins for TMEM14A Gene

  • Protein details for TMEM14A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y6G1-TM14A_HUMAN
    Recommended name:
    Transmembrane protein 14A
    Protein Accession:
    Q9Y6G1
    Secondary Accessions:
    • B2R552

    Protein attributes for TMEM14A Gene

    Size:
    99 amino acids
    Molecular mass:
    10712 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TMEM14A Gene

neXtProt entry for TMEM14A Gene

Post-translational modifications for TMEM14A Gene

No Post-translational modifications

Other Protein References for TMEM14A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM14A Gene

Domains & Families for TMEM14A Gene

Gene Families for TMEM14A Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for TMEM14A Gene

Suggested Antigen Peptide Sequences for TMEM14A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6G1

UniProtKB/Swiss-Prot:

TM14A_HUMAN :
  • Belongs to the TMEM14 family.
Family:
  • Belongs to the TMEM14 family.
genes like me logo Genes that share domains with TMEM14A: view

Function for TMEM14A Gene

Molecular function for TMEM14A Gene

UniProtKB/Swiss-Prot Function:
Inhibits apoptosis via negative regulation of the mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway.

Gene Ontology (GO) - Molecular Function for TMEM14A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with TMEM14A: view

Phenotypes for TMEM14A Gene

genes like me logo Genes that share phenotypes with TMEM14A: view

Animal Model Products

miRNA for TMEM14A Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM14A Gene

Localization for TMEM14A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM14A Gene

Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane.

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 TMEM14A gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
plasma membrane 3
extracellular 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TMEM14A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA,IEA 21723035
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM14A: view

Pathways & Interactions for TMEM14A Gene

SuperPathways for TMEM14A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM14A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0043066 negative regulation of apoptotic process IMP 21723035
GO:1901029 negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway IMP 21723035
genes like me logo Genes that share ontologies with TMEM14A: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM14A Gene

Drugs & Compounds for TMEM14A Gene

No Compound Related Data Available

Transcripts for TMEM14A Gene

mRNA/cDNA for TMEM14A Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(160) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TMEM14A Gene

Transmembrane protein 14A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM14A Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - - - - -
SP5:
SP6: - -

Relevant External Links for TMEM14A Gene

GeneLoc Exon Structure for
TMEM14A
ECgene alternative splicing isoforms for
TMEM14A

Expression for TMEM14A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM14A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of TMEM14A Gene:

TMEM14A

SOURCE GeneReport for Unigene cluster for TMEM14A Gene:

Hs.94896

mRNA Expression by UniProt/SwissProt for TMEM14A Gene:

Q9Y6G1-TM14A_HUMAN
Tissue specificity: Expressed at significantly higher levels in ovarian cancer tissues than in normal tissues (at protein level).

Evidence on tissue expression from TISSUES for TMEM14A Gene

  • Nervous system(4.8)
  • Lung(4.2)
genes like me logo Genes that share expression patterns with TMEM14A: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM14A Gene

Orthologs for TMEM14A Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM14A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM14A 33 34
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia TMEM14A 33 34
  • 93.1 (n)
dog
(Canis familiaris)
Mammalia TMEM14A 33 34
  • 91.19 (n)
mouse
(Mus musculus)
Mammalia Tmem14a 33 16 34
  • 89.66 (n)
rat
(Rattus norvegicus)
Mammalia Tmem14a 33
  • 89.27 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM14A 34
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM14A 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM14A 33 34
  • 66.67 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM14A 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496530 33
  • 67.43 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:163080 33
  • 57.47 (n)
TMEM14A 34
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5532 34
  • 39 (a)
OneToMany
Species where no ortholog for TMEM14A 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM14A Gene

ENSEMBL:
Gene Tree for TMEM14A (if available)
TreeFam:
Gene Tree for TMEM14A (if available)

Paralogs for TMEM14A Gene

Paralogs for TMEM14A Gene

(3) SIMAP similar genes for TMEM14A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TMEM14A: view

Variants for TMEM14A Gene

Sequence variations from dbSNP and Humsavar for TMEM14A Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000104917 -- 52,671,846(+) G/T intron_variant
rs1000273540 -- 52,669,767(+) C/T upstream_transcript_variant
rs1000281278 -- 52,678,687(+) T/C intron_variant
rs1000287029 -- 52,682,530(+) T/C intron_variant
rs1000580535 -- 52,676,138(+) A/G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM14A Gene

Variant ID Type Subtype PubMed ID
nsv830663 CNV loss 17160897
nsv603106 CNV loss 21841781
nsv470818 CNV loss 18288195
nsv462945 CNV loss 19166990
esv3441429 CNV insertion 20981092
esv3363465 CNV insertion 20981092
esv3305402 CNV mobile element insertion 20981092

Variation tolerance for TMEM14A Gene

Residual Variation Intolerance Score: 80.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM14A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM14A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM14A Gene

Disorders for TMEM14A Gene

MalaCards: The human disease database

(1) MalaCards diseases for TMEM14A Gene - From: DISEASES

Disorder Aliases PubMed IDs
epilepsy, idiopathic generalized 10
  • epilepsy, idiopathic generalized, susceptibility to, 10
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM14A

genes like me logo Genes that share disorders with TMEM14A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TMEM14A Gene

Publications for TMEM14A Gene

  1. Knockdown of TMEM14A expression by RNAi inhibits the proliferation and invasion of human ovarian cancer cells. (PMID: 26896463) Zhang Q … Chen J (Bioscience reports 2016) 3 4 58
  2. TMEM14A inhibits N-(4-hydroxyphenyl)retinamide-induced apoptosis through the stabilization of mitochondrial membrane potential. (PMID: 21723035) Woo IS … Seo HG (Cancer letters 2011) 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. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for TMEM14A Gene

Sources for TMEM14A Gene

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