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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMEM14C Gene

protein-coding   GIFtS: 46
GCID: GC06P010723

transmembrane protein 14C

(Previous name: chromosome 6 open reading frame 53 )
(Previous symbol: C6orf53)
  Search for TMEM14C
in our new
 Human Malady Compendium 
Biological research products
for TMEM14C
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane Protein 14C1 2     HSPC1941
C6orf531 2 3     Chromosome 6 Open Reading Frame 531
NET261 2     MSTP0732
BA421M1.61     

External Ids:    HGNC: 209521   Entrez Gene: 515222   Ensembl: ENSG000001118437   UniProtKB: Q9P0S93   

Export aliases for TMEM14C gene to outside databases

Previous GC identifers: GC06P010832 GC06P010833 GC06P010598


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TM14C_HUMAN, Q9P0S9
Function: Required for normal heme biosynthesis (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TMEM14C gene promoter:
         STAT1   Tal-1   Pax-6   MyoD   LUN-1   CUTL1   GATA-1   E47   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM14C promoter sequence
   Search SABiosciences Chromatin IP Primers for TMEM14C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM14C


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p24.2   Ensembl cytogenetic band:  6p24.2   HGNC cytogenetic band: 6p24.1

TMEM14C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM14C gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P010723:  view genomic region     (about GC identifiers)

Start:
10,723,148 bp from pter      End:
10,731,362 bp from pter
Size:
8,215 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TM14C_HUMAN, Q9P0S9 (See protein sequence)
Recommended Name: Transmembrane protein 14C  
Size: 112 amino acids; 11565 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein (By similarity)
1 PDB 3D structure from and Proteopedia for TMEM14C:
2LOS (3D)    
Secondary accessions: Q5T4I6

Explore the universe of human proteins at neXtProt for TMEM14C: NX_Q9P0S9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9P0S9

  • TMEM14C Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001158730.1  NP_057546.1  

    ENSEMBL proteins: 
     ENSP00000229563   ENSP00000444561  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TMEM14C

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--
    GO:0031966mitochondrial membrane IEA--


    TMEM14C for ontologies           About GeneDecksing



    TMEM14C Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TMEM14C for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005349 UPF0136_TM

    Graphical View of Domain Structure for InterPro Entry Q9P0S9

    ProtoNet protein and cluster: Q9P0S9

    1 Blocks protein family: IPB005349 Protein of unknown function UPF0136

    UniProtKB/Swiss-Prot: TM14C_HUMAN, Q9P0S9
    Similarity: Belongs to the UPF0136 (TMEM14) family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: TM14C_HUMAN, Q9P0S9
    Function: Required for normal heme biosynthesis (By similarity)

    miRNA
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    hsa-miR-3143 hsa-miR-3145-3p
    SwitchGear 3'UTR luciferase reporter plasmidTMEM14C 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM14C

    5 GenomeRNAi human phenotypes for TMEM14C:
     Cell cycle / mitosis defect  Decreased POU5F1-GFP protein e  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 
     Increased gamma-H2AX phosphory 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM14C

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    4 Interacting proteins for TMEM14C (Q9P0S93 ENSP000002295634) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC34P494273, ENSP000002155744I2D: score=1 STRING: ENSP00000215574
    CREB3O438893I2D: score=1 
    RCHY1ENSP000003212394STRING: ENSP00000321239
    RSG1ENSP000003647494STRING: ENSP00000364749
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006783heme biosynthetic process IEA--


    TMEM14C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMEM14C
    Search CenterWatch for drugs/clinical trials and news about TMEM14C / TM14C 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TMEM14C gene (2 alternative transcripts): 
    NM_001165258.1  NM_016462.3  

    Unigene Cluster for TMEM14C:

    Transmembrane protein 14C
    Hs.519557  [show with all ESTs]
    Unigene Representative Sequence: BE908369
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000229563 ENST00000466421 ENST00000467415 ENST00000495549 ENST00000541412(uc010joq.2 uc003mzh.3 uc021ylj.1)


    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate TMEM14C:
    hsa-miR-3143 hsa-miR-3145-3p
    SwitchGear 3'UTR luciferase reporter plasmidTMEM14C 3' UTR sequence
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM14C (see all 7)
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    Clone
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    Additional cDNA sequence: 

    AF151028.1 AF164962.1 AK223462.1 AK309591.1 AK310191.1 BC002496.2 BC010086.2 

    16 DOTS entries:

    DT.419950  DT.100827185  DT.100827189  DT.100827181  DT.40132990  DT.92452631  DT.95262803  DT.97854830 
    DT.121397360  DT.121397469  DT.91950006  DT.92452623  DT.92452638  DT.99960630  DT.121397502  DT.87017216 

    24/663 AceView cDNA sequences (see all 663):

    AI873685 CR625322 BU948060 CR623943 BI762652 AA326688 CA944770 CR621789 
    AI631124 BU633040 BM764385 AW261898 BM888344 BI755167 BM781841 AA830816 
    BU688113 AI142474 AI423011 AI493197 AA570008 AI887408 CB528523 BM661517 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM14C (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g · 7h ·
    SP1:                                      -     -                       -                 -                                                                     
    SP2:                                                                    -                 -                                                                     
    SP3:                                      -                             -                 -                                                                     
    SP4:                                      -     -                       -                 -                                                                     
    SP5:                                      -     -                       -                 -                 -                                                   

    ExUns: 7i
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for TMEM14C

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMEM14C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTACAAACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    TMEM14C expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainCerebral CortexBrain
    EyeRetinaEye
    Neural TubeTelencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TMEM14C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM14C

    SOURCE GeneReport for Unigene cluster: Hs.519557
        SABiosciences Custom PCR Arrays for TMEM14C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM14C

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TMEM14C gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves TMEM14C1 transmembrane protein 14C 75.58(n)
    75.25(a)
      420851  XM_418940.3  XP_418940.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    68(a)
    1 → many
    GL343209.1(2583459-2588647)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ068667.12   -- 75.08(n)    BJ068667.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ285704.12   -- 74.77(n)    BQ285704.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG55321 CG5532 50.65(n)
    51.96(a)
      37761  NM_137982.3  NP_611826.1 


    ENSEMBL Gene Tree for TMEM14C (if available)
    TreeFam Gene Tree for TMEM14C (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMEM14C gene
    TMEM14E2  TMEM14B2  TMEM14A2  
    4 SIMAP similar genes for TMEM14C using alignment to 1 protein entry:     TM14C_HUMAN:
    TMEM14D    TMEM14B    TMEM14A    TMEM14E

    TMEM14C for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for TMEM14C
    PGOHUM00000236899 PGOHUM00000247539


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/371 NCBI SNPs in TMEM14C are shown (see all 371    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs44016591,2
    C,F,H,--10721169(+) cacagC/Ggccca 2 -- us2k13Minor allele frequency- G:0.40NA WA CSA 5
    rs45606381,2
    C,F,H,--10721182(+) cccatC/Taacca 2 -- us2k13Minor allele frequency- T:0.50NA WA CSA 6
    rs1879160661,2
    --10721224(+) CAGGAC/TTGGAA 2 -- us2k10--------
    rs1509372421,2
    --10721232(+) GAAGGC/TAGCTC 2 -- us2k10--------
    rs1420277831,2
    --10721238(+) AGCTCC/TACCTG 2 -- us2k10--------
    rs1926958711,2
    --10721241(+) TCCACC/TTGCAG 2 -- us2k10--------
    rs2017014551,2
    --10721241(+) CCACC-/ATGCAG 2 -- us2k10--------
    rs1459001541,2
    --10721265(+) TCCACC/TGGGTG 2 -- us2k10--------
    rs1822546791,2
    --10721277(+) AGCCAA/GCTGGG 2 -- us2k10--------
    rs1135091891,2
    --10721285(+) GGGTTG/AAGTCT 2 -- us2k11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for TMEM14C (10723148 - 10731362 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TMEM14C: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM14C
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM14C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TMEM14C for disorders           About MalaCards

    TMEM14C for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: TMEM14C (1 document)

    Export disorders for TMEM14C gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TMEM14C gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with TMEM14C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2, 3 Zhang Q.-H.... Chen Z. (2000)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Nuclear membrane proteins with potential disease links found by subtractive proteomics. (PubMed id 12958361)1, 3 Schirmer E.C....Gerace L. (2003)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Biochemical and computational analysis of LNX1 interac ting proteins. (PubMed id 22087225)1 Wolting C.D....McGlade C.J. (2011)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    8. Discovery of genes essential for heme biosynthesis th rough large-scale gene expression analysis. (PubMed id 19656490)1 Nilsson R....Mootha V.K. (2009)
    9. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)2 Mungall A.J.... Beck S. (2003)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51522 HGNC: 20952 AceView: TMEM14CandTMEM14B Ensembl:ENSG00000111843 euGenes: HUgn51522
    ECgene: TMEM14C H-InvDB: TMEM14C

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TMEM14C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TMEM14C gene:
    Search GeneIP for patents involving TMEM14C

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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