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    MROH2A maestro heat like repeat family member 2A [ Homo sapiens (human) ]

    Gene ID: 339766, updated on 6-Jun-2024

    Summary

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    Official Symbol
    MROH2Aprovided by HGNC
    Official Full Name
    maestro heat like repeat family member 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:27936
    See related
    Ensembl:ENSG00000185038 AllianceGenome:HGNC:27936
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HEATR7B1
    Summary
    This gene encodes a HEAT-domain-containing protein. The function of the encoded protein has not been characterized. [provided by RefSeq, Aug 2016]
    Expression
    Biased expression in thyroid (RPKM 1.0), testis (RPKM 1.0) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MROH2A in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233775724..233833418)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234264353..234322184)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234684370..234742064)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UDP glucuronosyltransferase family 1 member A complex locus Neighboring gene UDP glucuronosyltransferase family 1 member A8 Neighboring gene UDP glucuronosyltransferase family 1 member A10 Neighboring gene UDP glucuronosyltransferase family 1 member A9 Neighboring gene UDP glucuronosyltransferase family 1 member A7 Neighboring gene UDP glucuronosyltransferase family 1 member A6 Neighboring gene UDP glucuronosyltransferase family 1 member A5 Neighboring gene UDP glucuronosyltransferase family 1 member A4 Neighboring gene UDP glucuronosyltransferase family 1 member A3 Neighboring gene DnaJ heat shock protein family (Hsp40) member B3 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:234668353-234668527 Neighboring gene UDP glucuronosyltransferase family 1 member A1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234731477-234731977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234759038-234759538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:234763063-234764055 Neighboring gene Holliday junction recognition protein Neighboring gene MSL complex subunit 3B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels. Bielinski SJ, et al. Mayo Clin Proc, 2011 Jul. PMID 21646302, Free PMC Article
    2. Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Denoeud F, et al. Genome Res, 2007 Jun. PMID 17567994, Free PMC Article
    3. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, Free PMC Article
    4. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    maestro heat-like repeat-containing protein family member 2A
    Names
    HEAT repeat containing 7B1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051337.1 RefSeqGene

      Range
      7669..62757
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001367507.1 → NP_001354436.1  maestro heat-like repeat-containing protein family member 2A isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC005538, AC006985
      UniProtKB/TrEMBL
      A0A087WT58
      Related
      ENSP00000477597.1, ENST00000610772.4

    2. NM_001394639.1 → NP_001381568.1  maestro heat-like repeat-containing protein family member 2A isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005538, AC006985
      Consensus CDS
      CCDS92974.1
      UniProtKB/Swiss-Prot
      A6NES4, F8VUA0
      UniProtKB/TrEMBL
      A0A087WT58
      Related
      ENSP00000374408.3, ENST00000389758.4

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      233775724..233833418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024452842.2 → XP_024308610.1  maestro heat-like repeat-containing protein family member 2A isoform X5

      UniProtKB/TrEMBL
      A0A087WT58

    2. XM_011511076.3 → XP_011509378.1  maestro heat-like repeat-containing protein family member 2A isoform X1

      UniProtKB/TrEMBL
      A0A087WT58

    3. XM_024452844.2 → XP_024308612.1  maestro heat-like repeat-containing protein family member 2A isoform X7

      UniProtKB/TrEMBL
      A0A087WT58

    4. XM_024452839.2 → XP_024308607.1  maestro heat-like repeat-containing protein family member 2A isoform X2

      UniProtKB/TrEMBL
      A0A087WT58

    5. XM_024452843.2 → XP_024308611.1  maestro heat-like repeat-containing protein family member 2A isoform X6

      UniProtKB/TrEMBL
      A0A087WT58

    6. XM_011511086.3 → XP_011509388.1  maestro heat-like repeat-containing protein family member 2A isoform X12

    7. XM_024452841.2 → XP_024308609.1  maestro heat-like repeat-containing protein family member 2A isoform X4

      UniProtKB/TrEMBL
      A0A087WT58

    8. XM_024452846.2 → XP_024308614.1  maestro heat-like repeat-containing protein family member 2A isoform X9

      UniProtKB/TrEMBL
      A0A087WT58

    9. XM_024452840.2 → XP_024308608.1  maestro heat-like repeat-containing protein family member 2A isoform X3

      UniProtKB/TrEMBL
      A0A087WT58

    10. XM_024452845.1 → XP_024308613.1  maestro heat-like repeat-containing protein family member 2A isoform X8

      UniProtKB/TrEMBL
      A0A087WT58

    11. XM_024452847.2 → XP_024308615.1  maestro heat-like repeat-containing protein family member 2A isoform X10

      UniProtKB/TrEMBL
      A0A087WT58

    12. XM_024452849.2 → XP_024308617.1  maestro heat-like repeat-containing protein family member 2A isoform X11

      UniProtKB/TrEMBL
      A0A087WT58

    13. XM_024452848.2 → XP_024308616.1  maestro heat-like repeat-containing protein family member 2A isoform X10

      UniProtKB/TrEMBL
      A0A087WT58

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      234264353..234322184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341704.1 → XP_054197679.1  maestro heat-like repeat-containing protein family member 2A isoform X5

      UniProtKB/TrEMBL
      A0A087WT58

    2. XM_054341700.1 → XP_054197675.1  maestro heat-like repeat-containing protein family member 2A isoform X1

      UniProtKB/TrEMBL
      A0A087WT58

    3. XM_054341706.1 → XP_054197681.1  maestro heat-like repeat-containing protein family member 2A isoform X7

      UniProtKB/TrEMBL
      A0A087WT58

    4. XM_054341701.1 → XP_054197676.1  maestro heat-like repeat-containing protein family member 2A isoform X2

      UniProtKB/TrEMBL
      A0A087WT58

    5. XM_054341705.1 → XP_054197680.1  maestro heat-like repeat-containing protein family member 2A isoform X6

      UniProtKB/TrEMBL
      A0A087WT58

    6. XM_054341712.1 → XP_054197687.1  maestro heat-like repeat-containing protein family member 2A isoform X12

    7. XM_054341703.1 → XP_054197678.1  maestro heat-like repeat-containing protein family member 2A isoform X4

      UniProtKB/TrEMBL
      A0A087WT58

    8. XM_054341708.1 → XP_054197683.1  maestro heat-like repeat-containing protein family member 2A isoform X9

      UniProtKB/TrEMBL
      A0A087WT58

    9. XM_054341702.1 → XP_054197677.1  maestro heat-like repeat-containing protein family member 2A isoform X3

      UniProtKB/TrEMBL
      A0A087WT58

    10. XM_054341707.1 → XP_054197682.1  maestro heat-like repeat-containing protein family member 2A isoform X8

      UniProtKB/TrEMBL
      A0A087WT58

    11. XM_054341709.1 → XP_054197684.1  maestro heat-like repeat-containing protein family member 2A isoform X10

      UniProtKB/TrEMBL
      A0A087WT58

    12. XM_054341711.1 → XP_054197686.1  maestro heat-like repeat-containing protein family member 2A isoform X11

      UniProtKB/TrEMBL
      A0A087WT58

    13. XM_054341710.1 → XP_054197685.1  maestro heat-like repeat-containing protein family member 2A isoform X10

      UniProtKB/TrEMBL
      A0A087WT58

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001287395.1: Suppressed sequence

      Description
      NM_001287395.1: This RefSeq has been removed because currently there is insufficient support for the transcript and protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NES4.4 GenPept UniProtKB/Swiss-Prot:A6NES4

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