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TMEM62 Gene

protein-coding   GIFtS: 43
GCID: GC15P043415

Transmembrane Protein 62

  See related diseases
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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Aliases
Transmembrane Protein 621 2

External Ids:    HGNC: 262691   Entrez Gene: 800212   Ensembl: ENSG000001378427   UniProtKB: Q0P6H93   

Export aliases for TMEM62 gene to outside databases

Previous GC identifers: GC15P041214 GC15P043425 GC15P020273


(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 TMEM62 Gene:
TMEM62 (transmembrane protein 62) is a protein-coding gene. Diseases associated with TMEM62 include congenital dyserythropoietic anemia type i, and congenital dyserythropoietic anemia.


(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_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM62 gene promoter:
         AP-1   Lmo2   POU2F1   Ik-2   FOXJ2 (long isoform)   POU2F1a   STAT3   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM62 promoter sequence
   Search Chromatin IP Primers for TMEM62

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM62


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

Entrez Gene cytogenetic band: 15q15.2   Ensembl cytogenetic band:  15q15.2   HGNC cytogenetic band: 15q15.2

TMEM62 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM62 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P043415:  view genomic region     (about GC identifiers)

Start:
43,415,477 bp from pter      End:
43,477,344 bp from pter
Size:
61,868 bases      Orientation:
plus 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, 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: TMM62_HUMAN, Q0P6H9 (See protein sequence)
Recommended Name: Transmembrane protein 62  
Size: 643 amino acids; 73133 Da
Sequence caution: Sequence=BAB15630.1; Type=Erroneous initiation;
Secondary accessions: Q6I9Y5 Q9H5J6

Explore the universe of human proteins at neXtProt for TMEM62: NX_Q0P6H9

Explore proteomics data for TMEM62 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn180, Asn467, Asn626

  • See TMEM62 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079232.3  
    ENSEMBL proteins: 
     ENSP00000455482   ENSP00000454683   ENSP00000457314   ENSP00000260403   ENSP00000455413  
     ENSP00000456003   ENSP00000457503   ENSP00000456151   ENSP00000458098  

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    Cloud-Clone Corp. CLIAs for TMEM62


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q0P6H9


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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding ----
         
    TMEM62 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    hsa-mir-361-5p (MIRT044055), hsa-mir-26b-5p (MIRT029992)

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    Selected qRT-PCR Assays for microRNAs that regulate TMEM62 (see all 11):
    hsa-miR-579 hsa-miR-222* hsa-miR-199b-3p hsa-miR-199a-3p hsa-miR-3129-5p hsa-miR-551b* hsa-miR-664 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidTMEM62 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM62

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    GenScript: all cDNA clones in your preferred vector: TMEM62 (NM_024956)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM62

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM62


    (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
    TMM62_HUMAN, Q0P6H9: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    TMEM62 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 TMEM62
    Interactions:

        Search GeneGlobe Interaction Network for TMEM62

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    Selected Interacting proteins for TMEM62 (Q0P6H93 ENSP000002604034) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA5P110213, ENSP000003241734I2D: score=3 STRING: ENSP00000324173
    CSE1LP550603, ENSP000002629824I2D: score=4 STRING: ENSP00000262982
    LTA4HP099603I2D: score=4 
    APEHP137983I2D: score=3 
    PTPN6P293503I2D: score=3 
    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 TMEM62 (TMM62)



    (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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    REFSEQ mRNAs for TMEM62 gene: 
    NM_024956.3  

    Unigene Cluster for TMEM62:

    Transmembrane protein 62
    Hs.511175  [show with all ESTs]
    Unigene Representative Sequence: NM_024956
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000564698 ENST00000569535 ENST00000565291 ENST00000260403(uc001zqr.3 uc010bda.3)
    ENST00000569926 ENST00000570109 ENST00000568182 ENST00000567441 ENST00000568197
    ENST00000564494 ENST00000569897 ENST00000566308 ENST00000563859 ENST00000569369
    ENST00000566122
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TMEM62 (see all 11):
    hsa-miR-579 hsa-miR-222* hsa-miR-199b-3p hsa-miR-199a-3p hsa-miR-3129-5p hsa-miR-551b* hsa-miR-664 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidTMEM62 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TMEM62
    Predesigned siRNA for gene silencing in human, mouse, rat TMEM62
    Clone
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    OriGene clones in human, mouse for TMEM62 (see all 8)
    OriGene ORF clones in mouse, rat for TMEM62
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TMEM62 (NM_024956)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM62
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM62
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for TMEM62
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM62
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM62
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM62
      QuantiFast Probe-based Assays in human, mouse, rat TMEM62

    Additional mRNA sequence: 

    AK027028.1 AK225353.1 AK309679.1 BC009981.2 CR457370.1 

    13 DOTS entries:

    DT.95168952  DT.116591  DT.121051476  DT.121051408  DT.91697311  DT.116594  DT.40106984  DT.95168955 
    DT.91697309  DT.95131978  DT.95211127  DT.99984077  DT.75165850 

    Selected AceView cDNA sequences (see all 149):

    AI379988 AI277128 BF513439 AI393993 AI970865 AI281173 BF594527 AI818808 
    BU616786 AI738483 BC009981 AI964047 CR593950 AI566279 AI494068 AI497763 
    BF002264 BE219980 BG413339 BX281492 D20482 BE084819 AI830421 BU626410 

    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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    TMEM62 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAGCACTT
    TMEM62 Expression
    About this image

    TMEM62 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM62 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.511175
        Custom PCR Arrays for TMEM62
    Primer
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    OriGene qPCR primer pairs and template standards for TMEM62
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM62
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM62
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    QuantiFast Probe-based Assays in human, mouse, rat TMEM62
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM62

    (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 eukaryotes.

    Orthologs for TMEM62 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem621 , 5 transmembrane protein 621, 5 85.43(n)1
    83.2(a)1
      2 (60.37 cM)5
    969571  NM_175285.31  NP_780494.11 
     1209770175 
    chicken
    (Gallus gallus)
    Aves TMEM621 transmembrane protein 62 69.34(n)
    65.59(a)
      423243  XM_430033.3  XP_430033.3 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM626
    transmembrane protein 62
    63(a)
    1 ↔ 1
    1(39417156-39445131)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tmem621 transmembrane protein 62 62.67(n)
    60.1(a)
      100490213  XM_002941087.2  XP_002941133.2 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.261902 Transcribed sequences 72.28(n)    CD590032.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0102041 AgaP_AGAP010204 47.85(n)
    41.94(a)
      1279625  XM_319387.4  XP_319387.4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G033051 AT3G03305 43.94(n)
    30.39(a)
      821291  NM_111201.4  NP_566200.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g08940001 Os01g0894000 46.73(n)
    35.19(a)
      4324960  NM_001051601.1  NP_001045066.1 


    ENSEMBL Gene Tree for TMEM62 (if available)
    TreeFam Gene Tree for TMEM62 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 TMEM62 (see all 756)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1419610811,2
    --43423893(+) GGGTGC/TGGTAG 1 -- us2k10--------
    rs64930781,2
    C,A--43424122(+) GATCGC/TGCCAC 1 -- us2k14Minor allele frequency- T:0.12NA WA 8
    rs1869527641,2
    --43424181(+) AAAAAA/GAAAAA 1 -- us2k10--------
    rs71730051,2
    C,F,H--43424193(+) aaaaaT/GaaaaT 1 -- us2k1 tfbs34Minor allele frequency- G:0.01NS EA 406
    rs1427303011,2
    --43424335(+) TTTAGA/TCTGTT 1 -- us2k10--------
    rs1917479511,2
    --43424355(+) TAGGAC/TTTTCT 1 -- us2k10--------
    rs604356961,2
    C--43424365(+) TGAGAG/CAGATA 1 -- us2k12Minor allele frequency- C:0.24CSA WA 120
    rs1473537451,2
    C--43424408(+) TCTCCC/TGGGTC 1 -- us2k10--------
    rs1998360431,2
    C--43424693(+) AAAAA-/ACACAT 1 -- us2k10--------
    rs1830881351,2
    --43424965(+) TAAGGG/TAGGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM62 (43415477 - 43477344 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TMEM62:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678276CNV Deletion23128226
    dgv2368n71CNV Loss21882294
    nsv525461CNV Loss19592680
    nsv94791CNV Loss16902084
    nsv515876CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TMEM62
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM62

    (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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    3 diseases for TMEM62:    About MalaCards
    congenital dyserythropoietic anemia type i    congenital dyserythropoietic anemia    malaria


    TMEM62 for disorders           About GeneDecksing

    Genetic Association Database (GAD): TMEM62

    Export disorders for TMEM62 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 TMEM62 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TMEM62)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (J. Proteome Res. 2009)
    4. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (Cell 2005)
    5. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. (PubMed id 12434312)1 Dgany O.... Tamary H. (Am. J. Hum. Genet. 2002)
    6. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    7. Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. (PubMed id 8125298)1 Maruyama K. and Sugano S. (Gene 1994)

    (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: 80021 HGNC: 26269 AceView: FLJ23375 Ensembl:ENSG00000137842 euGenes: HUgn80021
    ECgene: TMEM62 H-InvDB: TMEM62

    (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 TMEM62 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 TMEM62 gene:
    Search GeneIP for patents involving TMEM62

    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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