Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



TMEM30A Gene

protein-coding   GIFtS: 50
GCID: GC06M075962

Transmembrane Protein 30A

(Previous name: chromosome 6 open reading frame 67)
(Previous symbol: C6orf67)
  Try our

disease database 

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Transmembrane Protein 30A1 2 3
C6orf671 2 3
CDC50A2 3 5
Chromosome 6 Open Reading Frame 671
Cell Cycle Control Protein 50A2

External Ids:    HGNC: 166671   Entrez Gene: 557542   Ensembl: ENSG000001126977   OMIM: 6110285   UniProtKB: Q9NV963   

Export aliases for TMEM30A gene to outside databases

Previous GC identifers: GC06M075959 GC06M076019 GC06M073161


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

TryGeneCards Plus

GeneCards Summary for TMEM30A Gene:
TMEM30A (transmembrane protein 30A) is a protein-coding gene. An important paralog of this gene is TMEM30C.


(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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM30A gene promoter:
         GCNF   USF2   Olf-1   HOXA5   GCNF-1   c-Myb   Zic3   GCNF-2   MRF-2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM30A promoter sequence
   Search Chromatin IP Primers for TMEM30A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM30A


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

Entrez Gene cytogenetic band: 6q14.1   Ensembl cytogenetic band:  6q14.1   HGNC cytogenetic band: 6q14.1

TMEM30A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM30A gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M075962:  view genomic region     (about GC identifiers)

Start:
75,962,638 bp from pter      End:
75,994,684 bp from pter
Size:
32,047 bases      Orientation:
minus strand

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: CC50A_HUMAN, Q9NV96 (See protein sequence)
Recommended Name: Cell cycle control protein 50A  
Size: 361 amino acids; 40684 Da
Secondary accessions: A8K9V8 E1P539 Q658Z3 Q96H09 Q9NSL9
Alternative splicing: 3 isoforms:  Q9NV96-1   Q9NV96-2   Q9NV96-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMEM30A: NX_Q9NV96

Explore proteomics data for TMEM30A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys8, Lys24, Lys210, Lys213
  • Glycosylation2 at Asn180, Asn190, Thr285, Asn294
  • Modification sites at PhosphoSitePlus

  • See TMEM30A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001137430.1  NP_060717.1  

    ENSEMBL proteins: 
     ENSP00000230461   ENSP00000359067   ENSP00000431007   ENSP00000430270  

    TMEM30A Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for TMEM30A
    OriGene Protein Over-expression Lysate for TMEM30A
    OriGene MassSpec for TMEM30A
    OriGene Custom Protein Services for TMEM30A
    GenScript Custom Purified and Recombinant Proteins Services for TMEM30A
    Novus Biologicals TMEM30A Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TMEM30A

     
    Search eBioscience for Proteins for TMEM30A 

     
    antibodies-online proteins for TMEM30A (2 products) 

     
    antibodies-online peptides for TMEM30A

    TMEM30A Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for TMEM30A
    Novus Biologicals TMEM30A Antibodies
    Abcam antibodies for TMEM30A
    Cloud-Clone Corp. Antibodies for TMEM30A
    Search ThermoFisher Antibodies for TMEM30A
    antibodies-online antibodies for TMEM30A (3 products) 

    TMEM30A Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TMEM30A
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for TMEM30A
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TMEM30A
    Cloud-Clone Corp. CLIAs for TMEM30A
    Search eBioscience for ELISAs for TMEM30A 
    antibodies-online kits for TMEM30A (8 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    1 InterPro protein domain:
     IPR005045 DUF284_TM_euk

    Graphical View of Domain Structure for InterPro Entry Q9NV96

    ProtoNet protein and cluster: Q9NV96

    1 Blocks protein domain: IPB005045 Eukaryotic protein of unknown function DUF284

    UniProtKB/Swiss-Prot: CC50A_HUMAN, Q9NV96
    Similarity: Belongs to the CDC50/LEM3 family


    Find genes that share domains with TMEM30A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with TMEM30A           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TMEM30A

    miRNA
    Products:
        
    miRTarBase miRNAs that target TMEM30A:
    hsa-mir-27a-3p (MIRT028708), hsa-mir-215-5p (MIRT024298), hsa-mir-192-5p (MIRT026305), hsa-mir-128-3p (MIRT022012), hsa-mir-877-5p (MIRT037266), hsa-mir-26b-5p (MIRT029088)

    Block miRNA regulation of human, mouse, rat TMEM30A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM30A (see all 22):
    hsa-miR-644 hsa-miR-323-3p hsa-miR-3130-5p hsa-miR-4291 hsa-miR-875-3p hsa-miR-193a-3p hsa-miR-4272 hsa-miR-485-3p
    SwitchGear 3'UTR luciferase reporter plasmidTMEM30A 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for TMEM30A
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM30A

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for TMEM30A

    Clone
    Products:
         
    OriGene clones in human, mouse for TMEM30A (see all 11)
    OriGene ORF clones in mouse, rat for TMEM30A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM30A (NM_001143958)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM30A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM30A

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for TMEM30A
    Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM30A 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM30A


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    CC50A_HUMAN, Q9NV96: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TMEM30A           About GenesLikeMe


    (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).
    About This Section

    TryGeneCards Plus



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM30A
    Interactions:

        Search GeneGlobe Interaction Network for TMEM30A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TMEM30A (ENSP000003590674) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    DNAJC3ENSP000003659914STRING: ENSP00000365991
    ATP8A1ENSP000003710844STRING: ENSP00000371084
    ATP8A2ENSP000003710704STRING: ENSP00000371070
    KDSRENSP000003850834STRING: ENSP00000385083
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0036010protein localization to endosome IMP--
    GO:0045332phospholipid translocation IEA--
    GO:0070863positive regulation of protein exit from endoplasmic reticulum IDA--

    Find genes that share ontologies with TMEM30A           About GenesLikeMe



    (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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM30A (CC50A)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for TMEM30A gene (2 alternative transcripts): 
    NM_001143958.1  NM_018247.3  

    Unigene Cluster for TMEM30A:

    Transmembrane protein 30A
    Hs.108530  [show with all ESTs]
    Unigene Representative Sequence: NM_018247
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000230461(uc003phw.2 uc003phx.2) ENST00000370050 ENST00000475111
    ENST00000518161
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat TMEM30A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM30A (see all 22):
    hsa-miR-644 hsa-miR-323-3p hsa-miR-3130-5p hsa-miR-4291 hsa-miR-875-3p hsa-miR-193a-3p hsa-miR-4272 hsa-miR-485-3p
    SwitchGear 3'UTR luciferase reporter plasmidTMEM30A 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for TMEM30A
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM30A
    Clone
    Products:
         
    OriGene clones in human, mouse for TMEM30A (see all 11)
    OriGene ORF clones in mouse, rat for TMEM30A
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): TMEM30A (NM_001143958)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM30A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM30A
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TMEM30A
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM30A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM30A
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM30A
      QuantiFast Probe-based Assays in human, mouse, rat TMEM30A

    Additional mRNA sequence: 

    AJ420517.1 AK001718.1 AK022883.1 AK292823.1 AK293225.1 AK295567.1 AL162046.1 AL832490.1 
    AL832815.1 BC009006.1 

    17 DOTS entries:

    DT.75154392  DT.100823889  DT.121347370  DT.100823883  DT.95158518  DT.100823893  DT.121347388  DT.121347373 
    DT.40205730  DT.121347364  DT.100823891  DT.91968260  DT.91903991  DT.121347357  DT.91665904  DT.92449453 
    DT.95158517 

    Selected AceView cDNA sequences (see all 569):

    T10394 AI719917 AW341734 AI983479 AA488710 AI376719 CA432150 W74238 
    AW189291 AI540380 AI825457 BX105920 AU133305 BF476077 AI687254 AA247765 
    AI304594 CA394447 AL043751 BP350492 AI566640 R63341 BU620151 AI148510 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM30A    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7
    SP1:        -                                 
    SP2:                                          
    SP3:        -     -                           


    ECgene alternative splicing isoforms for TMEM30A

    (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)
    About This Section

    TryGeneCards Plus

    TMEM30A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CACCATTCAG
    TMEM30A Expression
    About this image


    TMEM30A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    TMEM30A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM30A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.108530
        Custom PCR Arrays for TMEM30A
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TMEM30A
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM30A
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM30A
    QuantiTect SYBR Green Assays in human, mouse, rat TMEM30A
    QuantiFast Probe-based Assays in human, mouse, rat TMEM30A
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM30A

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TMEM30A gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem30a1 , 5 transmembrane protein 30A1, 5 88.46(n)1
    89.2(a)1
      9 (43.82 cM)5
    699811  NM_133718.41  NP_598479.11 
     797689435 
    chicken
    (Gallus gallus)
    Aves TMEM30A1 transmembrane protein 30A 78.31(n)
    84.08(a)
      421861  NM_001012879.1  NP_001012897.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM30A6
    transmembrane protein 30A
    76(a)
    1 ↔ 1
    1(201445523-201487392)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC063271.12   -- 80.92(n)    BC063271.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.34492 Danio rerio mRNA similar to hypothetical protein FLJ1 more 76.13(n)    BC044384.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG99471 CG9947 56.17(n)
    58.95(a)
      32615  NM_132900.2  NP_573128.2 
    worm
    (Caenorhabditis elegans)
    Secernentea chat-11 chat-1 55.15(n)
    52.63(a)
      177213  NM_001028161.3  NP_001023332.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YNR048W)4
    YNR048W1
    Protein that interacts specifically in vivo with phospholipid more4
    YNR048W1
    49.11(n)1
    40.06(a)1
      14(711630-712811)4
    8557841, 4  NP_014446.31  NP_014446.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ALIS11 ALIS1 51.4(n)
    44.44(a)
      820456  NM_112110.3  NP_566435.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g06650001 Os06g0665000 52.1(n)
    43.04(a)
      4341775  NM_001064837.1  NP_001058302.1 


    ENSEMBL Gene Tree for TMEM30A (if available)
    TreeFam Gene Tree for TMEM30A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for TMEM30A gene
    TMEM30C2  TMEM30B2  
    2 SIMAP similar genes for TMEM30A using alignment to 2 protein entries:     CC50A_HUMAN (see all proteins):
    TMEM30B    TMEM30C

    Find genes that share paralogs with TMEM30A           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for TMEM30A
    PGOHUM00000238115


    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for TMEM30A (see all 559)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs746685491,2
    C--75962516(+) TCAGGC/TAGGGA 2 -- ds50010--------
    rs4488541,2
    C--75962611(+) ATATAT/CAAAAG 2 -- ds500112Minor allele frequency- C:0.05NA WA CSA EA 374
    rs1419683461,2
    C--75962718(+) AATGGA/TGCATG 2 -- ut310--------
    rs1179553621,2
    F--75962778(+) ATAGAC/TACTTA 2 -- ut311Minor allele frequency- T:0.03EA 120
    rs3970391,2
    C,F,H--75962890(+) AAAAAC/TGTGTC 2 -- ut31 ese334Minor allele frequency- T:0.08NA EA MN NS WA CSA 3220
    rs1910003831,2
    C--75962934(+) ACAGGA/GGAGGT 2 -- ut310--------
    rs412693151,2
    C--75962953(+) GAACCA/C/GCATTC 4 -- ut313NA CSA 123
    rs1823269611,2
    --75963046(+) CTCTCC/TGTTTA 2 -- ut310--------
    rs1473779851,2
    C--75963059(+) GGACAG/TTCCCC 2 -- ut310--------
    rs1175121,2
    C,F,A,H--75963248(+) CTGACC/GCTGTG 2 -- ut31 ese316Minor allele frequency- G:0.07MN NS EA NA WA CSA 838

    HapMap Linkage Disequilibrium report for TMEM30A (75962638 - 75994684 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for TMEM30A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830698CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM30A
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM30A

    (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

    TryGeneCards Plus
    OMIM gene information: 611028    OMIM disorders: --


    Find genes that share disorders with TMEM30A           About GenesLikeMe


    Export disorders for TMEM30A 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

    TryGeneCards Plus

    PubMed articles for TMEM30A gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with TMEM30A)
        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, 9 Katoh Y. and Katoh M. (Oncol. Rep. 2004)
    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. (Genome Res. 2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. Role for phospholipid flippase complex of ATP8A1 and CDC50A proteins in cell migration. (PubMed id 23269685)1 Kato U....Umeda M. (J. Biol. Chem. 2013)
    6. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    7. A yeast two-hybrid screen reveals that osteopontin associates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (Eur. J. Neurosci. 2012)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. Human TMEM30a promotes uptake of antitumor and bioactive choline phospholipids into mammalian cells. (PubMed id 21289302)1 Chen R....McIntyre T.M. (J. Immunol. 2011)
    10. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. (PubMed id 21914794)1 Takatsu H.... Shin H.W. (J. Biol. Chem. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 55754 HGNC: 16667 AceView: TMEM30A Ensembl:ENSG00000112697 euGenes: HUgn55754
    ECgene: TMEM30A H-InvDB: TMEM30A

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for TMEM30A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for TMEM30A gene:
    Search GeneIP for patents involving TMEM30A

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for TMEM30A  
     OriGene qPCR primer pairs and template standards for TMEM30A   OriGene Protein Over-expression Lysate for TMEM30A  
     OriGene MassSpec for TMEM30A   OriGene clones in human, mouse for TMEM30A  
     OriGene qSTAR qPCR primer pairs in human, mouse for TMEM30A   OriGene Purified Protein for TMEM30A  
     OriGene ORF clones in mouse, rat for TMEM30A   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for TMEM30A   OriGene Custom Protein Services for TMEM30A  

     
     
     Block miRNA regulation of human, mouse, rat TMEM30A using miScript Target Protectors SeqTarget long-range PCR primers for resequencing TMEM30A
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM30A Predesigned siRNA for gene silencing in human, mouse, rat TMEM30A
     QuantiFast Probe-based Assays in human, mouse, rat TMEM30A QuantiTect SYBR Green Assays in human, mouse, rat TMEM30A
     Custom PCR Arrays for TMEM30A Search Chromatin IP Primers for TMEM30A
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM30A  Search GeneGlobe Interaction Network for TMEM30A
     Regulatory tfbs in TMEM30A promoter
     GenScript Custom Purified and Recombinant Proteins Services for TMEM30A GenScript cDNA clones with any tag delivered in your preferred vector for TMEM30A
     GenScript Custom Assay Services for TMEM30A GenScript Custom overexpressing Cell Line Services for TMEM30A
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for TMEM30A (CC50A)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     TMEM30A antibodies
     TMEM30A proteins
     Antibodies for TMEM30A
     See all of Abcam's Antibodies, Kits and Proteins for TMEM30A
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for TMEM30A
     Antibodies for TMEM30A
     ELISAs for TMEM30A
     CLIAs for TMEM30A



     Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM30A
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM30A
     SwitchGear 3'UTR luciferase reporter plasmids for TMEM30A
     SwitchGear Promoter luciferase reporter plasmids for TMEM30A
     Search ThermoFisher Antibodies for TMEM30A
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM30A
     Browse compounds at ApexBio
     Search Addgene for plasmids for TMEM30A
      Search eBioscience for proteins for TMEM30A
      Search eBioscience for elisas for TMEM30A
      eBioscience FlowRNA Probe Sets
     genOway: Develop your customized and physiologically relevant rodent model for TMEM30A
     antibodies-online antibodies for TMEM30A (3 products)
     antibodies-online kits for TMEM30A (8 products)
     antibodies-online peptides for TMEM30A
     antibodies-online proteins for TMEM30A (2 products)
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      TMEM30A gene at Home site.
    Version: 3.12.250 16 Nov 2014
    hostname: 356980-web2.xennexinc.com index build: 128 solr: 1.4