TMEM14A Gene (Protein Coding)

Transmembrane Protein 14A

GC06P052671
GIFtS:
33
See more...

Aliases for TMEM14A Gene

Aliases for TMEM14A Gene

  • Transmembrane Protein 14A 2 3 4 5
  • C6orf73 2 3 4
  • PTD011 2 3
  • TMEM14A 5

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 Ovarian Cancer and Neuronal Ceroid Lipofuscinosis. An important paralog of this gene is TMEM14C.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for TMEM14A Gene

Genomics for TMEM14A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH06J052670 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.2 221 1.8 HNRNPL GATAD2A PRDM10 ZNF629 TFE3 NFKBIZ ZNF692 POLR2A RCOR2 BACH1 TMEM14A lnc-GSTA2-3 ENSG00000216775 MCM3 TRAM2 piR-42002-014 GSTA2
GH06J052672 Enhancer 0.7 ENCODE 600.7 +1.5 1549 0.2 PRDM10 IKZF1 JUND PRDM1 SMARCC1 SMARCC2 FOS JUN RCOR1 FOSL1 TMEM14A lnc-GSTA2-3 EFHC1 CILK1 piR-42002-014 GSTA2
GH06J052673 Enhancer 0.4 ENCODE 600.7 +1.2 1230 0.1 SMARCC1 SMARCC2 FOSL2 TMEM14A lnc-GSTA2-3 piR-42002-014 GSTA2
GH06J052723 Enhancer 1.3 FANTOM5 Ensembl ENCODE 17.9 +54.3 54321 4 CEBPG GATAD2A CTCF ATF7 REST TFE3 SOX13 NFKBIZ RCOR2 FOXA1 TMEM14A ENSG00000216775 GSTA3 HSALNG0050629 lnc-GSTA2-1 GSTA7P GSTA2
GH06J052663 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 8.2 -5.8 -5816 4.2 SP1 HNRNPL GATAD2A CTCF ZNF629 REST ZNF512 RFX1 IKZF1 ZNF692 ENSG00000216775 LOC730101 EFHC1 TRAM2 TRAM2-AS1 CILK1 TMEM14A lnc-GSTA2-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM14A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMEM14A

Top Transcription factor binding sites by QIAGEN in the TMEM14A gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • SRY

Genomic Locations for TMEM14A Gene

Genomic Locations for TMEM14A Gene
chr6:52,671,099-52,686,588
(GRCh38/hg38)
Size:
15,490 bases
Orientation:
Plus strand
chr6:52,535,884-52,551,386
(GRCh37/hg19)
Size:
15,503 bases
Orientation:
Plus strand

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 Structure • Gene Density

RefSeq DNA sequence for TMEM14A Gene

Proteins for TMEM14A Gene

Products:

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  • 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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
Blocks:
  • Protein of unknown function UPF0136
ProtoNet:

Suggested Antigen Peptide Sequences for TMEM14A Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 14A (TM14A_HUMAN)

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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.

Phenotypes From GWAS Catalog for TMEM14A Gene

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

Animal Models for TMEM14A Gene

MGI Knock Outs for TMEM14A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM14A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
cytosol 1
lysosome 0

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 IBA,IDA 21723035
GO:0016020 membrane IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TMEM14A: view

Pathways & Interactions for TMEM14A Gene

PathCards logo

SuperPathways for TMEM14A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM14A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006839 mitochondrial transport IBA 21873635
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 IBA,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

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  1. Drug
No Compound Related Data Available

Transcripts for TMEM14A Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for TMEM14A Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 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 TMEM14A

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

Expression for TMEM14A Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for TMEM14A Gene
mRNA expression by GTEx for TMEM14A GenemRNA expression by BioGPS for TMEM14A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 30 31
  • 99.66 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia TMEM14A 30 31
  • 93.1 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia TMEM14A 30 31
  • 91.19 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Tmem14a 30 17 31
  • 89.66 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Tmem14a 30
  • 89.27 (n)
Oppossum
(Monodelphis domestica)
 Mammalia TMEM14A 31
  • 69 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia TMEM14A 31
  • 69 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves TMEM14A 30 31
  • 66.67 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia TMEM14A 31
  • 64 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC100496530 30
  • 67.43 (n)
Zebrafish
(Danio rerio)
 Actinopterygii zgc:163080 30
  • 57.47 (n)
TMEM14A 31
  • 48 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG5532 31
  • 39 (a)
 OneToMany
Species where no ortholog for TMEM14A 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)
  • 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 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TMEM14A Gene

ENSEMBL:
Gene Tree for TMEM14A (if available)
TreeFam:
Gene Tree for TMEM14A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM14A: view image

Paralogs for TMEM14A Gene

Paralogs for TMEM14A Gene

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

  • TM14A_HUMAN
  • L0R8I9_HUMAN
genes like me logo Genes that share paralogs with TMEM14A: view

Variants for TMEM14A Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMEM14A Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs11543266 - p.Cys37Arg

Additional dbSNP identifiers (rs#s) for TMEM14A Gene

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

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

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

(2) MalaCards diseases for TMEM14A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ovarian cancer
  • ovarian cancer, somatic
neuronal ceroid lipofuscinosis
  • batten disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TMEM14A

Genetic Association Database
(GAD)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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
  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
  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
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for TMEM14A gene in Mastermind

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