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TMEM30C Gene

protein-coding   GIFtS: 32
GCID: GC03P099904

Transmembrane Protein 30C

  Search for TMEM30C
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transmembrane Protein 30C1 2 3
CDC50C2 3 5

External Ids:    HGNC: 304431   Entrez Gene: 6444442   Ensembl: ENSG000002351567   OMIM: 6110305   UniProtKB: A0ZSE63   
ORGUL members:         

Export aliases for TMEM30C gene to outside databases

Previous GC identifers: GC03U900581 GC03P101389 GC03P097272


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TMEM30C Gene:
TMEM30C (transmembrane protein 30C) is a protein-coding gene. An important paralog of this gene is TMEM30B.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM30C gene promoter:
         HFH-3   Pbx1a   Brachyury   CUTL1   FOXI1   MEF-2A   POU2F1   POU2F1a   aMEF-2   TGIF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TMEM30C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM30C


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

Entrez Gene cytogenetic band: 3q12.1   Ensembl cytogenetic band:  3q12.1   HGNC cytogenetic band: 3q12.1

TMEM30C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM30C gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P099904:  view genomic region     (about GC identifiers)

Start:
99,904,531 bp from pter      End:
99,913,035 bp from pter
Size:
8,505 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TMEM30C

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CC50C_HUMAN, A0ZSE6 (See protein sequence)
Recommended Name: Cell cycle control protein 50C  
Size: 113 amino acids; 13039 Da
Caution: According to PubMed:17258408, the major transcript has no stop-codon and is probably non protein-coding.
A minor transcript is also expressed and encodes the displayed protein which misses C-terminal part compared to
other mammalian orthologs

Explore the universe of human proteins at neXtProt for TMEM30C: NX_A0ZSE6

Explore proteomics data for TMEM30C at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn66

  • See TMEM30C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000419663   ENSP00000402698  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR005045 DUF284_TM_euk

    Graphical View of Domain Structure for InterPro Entry A0ZSE6

    ProtoNet protein and cluster: A0ZSE6

    UniProtKB/Swiss-Prot: CC50C_HUMAN, A0ZSE6
    Similarity: Belongs to the CDC50/LEM3 family


    TMEM30C for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM30C
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMEM30C

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CC50C_HUMAN, A0ZSE6: Membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytosol2
    cytoskeleton1
    endoplasmic reticulum1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--

    TMEM30C for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM30C
    Interactions:

        Search GeneGlobe Interaction Network for TMEM30C

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for TMEM30C (ENSP000004026984) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNAJC3ENSP000003659914STRING: ENSP00000365991
    ENSG00000206286ENSP000003726974STRING: ENSP00000372697
    ENSG00000224455ENSP000004040164STRING: ENSP00000404016
    ENSG00000225590ENSP000003911974STRING: ENSP00000391197
    ENSG00000228425ENSP000003908314STRING: ENSP00000390831
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM30C (CC50C)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    Unigene Cluster for TMEM30C:

    Transmembrane protein 30C
    Hs.652353
    Unigene Representative Sequence: AB249666
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476804 ENST00000489487(uc003dtr.2) ENST00000429523
    miRNA
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    Additional mRNA sequence: 

    AB249666.1 AB250297.1 NR_028357.1 NR_028358.1 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TMEM30C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATGCTTTC
    TMEM30C Expression
    About this image

    TMEM30C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM30C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.652353

    UniProtKB/Swiss-Prot: CC50C_HUMAN, A0ZSE6
    Tissue specificity: Specifically expressed in testis

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    In Situ
    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TMEM30C gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem30c5 transmembrane protein 30C   --   16 (34.22 cM) 57266139 
    chicken
    (Gallus gallus)
    Aves TMEM30C6
    transmembrane protein 30C
    13(a)
    1 ↔ 1
    1(83989237-83996981)
    zebrafish
    (Danio rerio)
    Actinopterygii tmem30c6
    transmembrane protein 30C
    11(a)
    1 ↔ 1
    9(31027747-31040785) ENSDARG00000009430
    fruit fly
    (Drosophila melanogaster)
    Insecta CG99476
    --
    9(a)
    1 → many
    X(16333180-16335313)
    worm
    (Caenorhabditis elegans)
    Secernentea F20C5.46
    Protein F20C5.4 (F20C5.4) mRNA, complete cds
    7(a)
    many ↔ many
    IV(8764880-8767450) WBGene00008969
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CDC506
    --
    (see all 3)
    Endosomal protein that interacts with phospholipid...
    Protein that interacts specifically in vivo with p...
    (see all 3)
    6(a)
    6(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    III(286762-287937) YCR094W
    XIV(711630-712811) YNR048W


    ENSEMBL Gene Tree for TMEM30C (if available)
    TreeFam Gene Tree for TMEM30C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM30C gene
    TMEM30B2  TMEM30A2  
    1 SIMAP similar gene for TMEM30C using alignment to 2 protein entries:     CC50C_HUMAN (see all proteins):
    TMEM30A

    TMEM30C for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TMEM30C (see all 217)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1499945241,2
    C--99902687(+) TGATGG/TTATAT 2 -- us2k10--------
    rs1442337391,2
    --99902688(+) GATGGC/TATATT 2 -- us2k10--------
    rs1902522701,2
    --99902721(+) GGGTAC/GACCTG 2 -- us2k10--------
    rs1406420631,2
    C--99902747(+) CCTTCA/GTAATG 2 -- us2k10--------
    rs1821352981,2
    --99902788(+) CTCAAC/TAGAAC 2 -- us2k10--------
    rs1868255051,2
    --99903088(+) GTTGTC/TTTATA 2 -- us2k10--------
    rs1505540981,2
    C--99903121(+) TCATT-/GGTTTT 2 -- us2k10--------
    rs1908600711,2
    --99903260(+) AATCTC/TATAGC 2 -- us2k10--------
    rs1839280271,2
    --99903262(+) TCTCAC/TAGCCT 2 -- us2k10--------
    rs121074081,2
    C,F,H--99903390(+) CCGTAC/GTAGTT 2 -- us2k16Minor allele frequency- G:0.08NS EA CSA WA 538

    HapMap Linkage Disequilibrium report for TMEM30C (99904531 - 99913035 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TMEM30C:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523836CNV Gain19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM30C
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM30C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611030    OMIM disorders: --


    TMEM30C for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMEM30C

    Export disorders for TMEM30C 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)
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    PubMed articles for TMEM30C gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM30C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of CDC50A, CDC50B and CDC50C genes in silico. (PubMed id 15375526)1, 2, 3 Katoh Y. and Katoh M. (Oncol. Rep. 2004)
    2. Aberrant termination of reproduction-related TMEM30C transcripts in the hominoids. (PubMed id 17258408)1, 2 Osada N.... Kusuda J. (Gene 2007)
    3. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (BMC Med. Genet. 2007)
    4. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 644444 HGNC: 30443 Ensembl:ENSG00000235156 euGenes: HUgn644444 ECgene: TMEM30C
    H-InvDB: TMEM30C

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TMEM30C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TMEM30C gene:
    Search GeneIP for patents involving TMEM30C

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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