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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, Generalized, With Febrile Seizures Plus, Type 5. An important paralog of this gene is TMEM14C.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM14A Gene

Genomics for TMEM14A Gene

Regulatory Elements for TMEM14A Gene

Enhancers for TMEM14A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G052723 1.6 FANTOM5 Ensembl ENCODE 17.9 +54.1 54135 3.6 PKNOX1 FOXA2 MLX WRNIP1 ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 TMEM14A LOC730101 GSTA3 PIR31960 GSTA7P
GH06G052663 1.1 ENCODE 7.1 -6.7 -6692 2.5 PKNOX1 AGO1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 ZNF143 LOC730101 EFHC1 TRAM2-AS1 TRAM2 ICK TMEM14A GC06P052657
GH06G052412 0.5 dbSUPER 10.7 -257.7 -257663 2.0 PAF1 POLR2A ZSCAN4 ATF2 MCM3 PAQR8 TRAM2 TRAM2-AS1 TMEM14A ICK PIR61259 PIR35463
GH06G052670 1.1 ENCODE 0.7 +0.2 234 1.8 HDGF MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS LOC730101 TMEM14A ENSG00000271227
GH06G052672 0.8 ENCODE 0.7 +1.6 1562 0.2 JUN MAX KLF17 FOSL1 GATA2 POLR2A EED SMARCC2 RCOR1 FOSL2 EFHC1 ICK TMEM14A ENSG00000271227
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TMEM14A on UCSC Golden Path with GeneCards custom track

Promoters for TMEM14A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000197939 214 601 HDGF MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 KLF13

Genomic Location for TMEM14A Gene

Chromosome:
6
Start:
52,671,086 bp from pter
End:
52,686,588 bp from pter
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 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

  • 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

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

No data available for Gene Families for TMEM14A Gene

Function 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

Phenotypes for TMEM14A Gene

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

Animal Model Products

CRISPR Products

miRNA for TMEM14A Gene

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

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

Gene Ontology (GO) - Cellular Components for TMEM14A Gene

GO ID Qualified GO term Evidence PubMed IDs
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

None

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:

CRISPR Products

Inhibitory RNA Products

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

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

Primer Products

No data available for 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 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 34 35
  • 99.66 (n)
cow
(Bos Taurus)
Mammalia TMEM14A 34 35
  • 93.1 (n)
dog
(Canis familiaris)
Mammalia TMEM14A 34 35
  • 91.19 (n)
mouse
(Mus musculus)
Mammalia Tmem14a 34 16 35
  • 89.66 (n)
rat
(Rattus norvegicus)
Mammalia Tmem14a 34
  • 89.27 (n)
oppossum
(Monodelphis domestica)
Mammalia TMEM14A 35
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TMEM14A 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMEM14A 34 35
  • 66.67 (n)
lizard
(Anolis carolinensis)
Reptilia TMEM14A 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496530 34
  • 67.43 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:163080 34
  • 57.47 (n)
TMEM14A 35
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5532 35
  • 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 Sequence Context AA Info Type
rs1000104917 -- 52,671,846(+) CGTGT(G/T)ATGTG intron-variant
rs1000273540 -- 52,669,767(+) GCTAT(C/T)ACTTT upstream-variant-2KB
rs1000281278 -- 52,678,687(+) CAACA(C/T)CTGGG intron-variant
rs1000287029 -- 52,682,530(+) GGTCG(C/T)GTATG intron-variant
rs1000580535 -- 52,676,138(+) CTGAG(A/G/T)GTATG intron-variant

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)

Relevant External Links 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 and GeneCards

Disorder Aliases PubMed IDs
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for TMEM14A

Genetic Association Database (GAD)
TMEM14A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  2. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  3. Knockdown of TMEM14A expression by RNAi inhibits the proliferation and invasion of human ovarian cancer cells. (PMID: 26896463) Zhang Q. … Chen J. (Biosci. Rep. 2016) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosis. (PMID: 23142642) Passantino R. … Guarneri P. (Biochim. Biophys. Acta 2013) 3 64

Products for TMEM14A Gene

Sources for TMEM14A Gene

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