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    MROH8 maestro heat like repeat family member 8 [ Homo sapiens (human) ]

    Gene ID: 140699, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MROH8provided by HGNC
    Official Full Name
    maestro heat like repeat family member 8provided by HGNC
    Primary source
    HGNC:HGNC:16125
    See related
    Ensembl:ENSG00000101353 AllianceGenome:HGNC:16125
    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
    C20orf131; C20orf132
    Summary
    The protein encoded by this gene belongs to the maestro heat-like repeat family. The exact function of this gene is not known, however, in a genome-wide association study using hippocampal atrophy as a quantitative trait, this gene has been associated with Alzheimer's disease (PMID:19668339). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Broad expression in testis (RPKM 12.2), kidney (RPKM 1.8) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q11.23
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37101167..37179548, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38825517..38903925, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35729572..35807951, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RB transcriptional corepressor like 1 Neighboring gene RPS3A pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17826 Neighboring gene RPS27A pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17827 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35724092-35724768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17829 Neighboring gene ribosomal protein L13 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35807291-35807850 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35807851-35808408 Neighboring gene Sharpr-MPRA regulatory region 9458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35821940-35822774 Neighboring gene ribophorin II Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35858877-35859417 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:35886402-35886635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12886 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12887 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35896280-35896826 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35896827-35897374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17832 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12888 Neighboring gene growth hormone releasing hormone Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17833 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:35918028-35918932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35943167-35944074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:35944075-35944984 Neighboring gene mannosidase beta like

    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. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. Potkin SG, et al. PLoS One, 2009 Aug 7. PMID 19668339, Free PMC Article
    2. FOXA1 Directs H3K4 Monomethylation at Enhancers via Recruitment of the Methyltransferase MLL3. Jozwik KM, et al. Cell Rep, 2016 Dec 6. PMID 27926873, Free PMC Article
    3. Nucleolar proteome dynamics. Andersen JS, et al. Nature, 2005 Jan 6. PMID 15635413
    4. The DNA sequence and comparative analysis of human chromosome 20. Deloukas P, et al. Nature, 2001 Dec 20-27. PMID 11780052
    5. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article

    See all (16) 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
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    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

    Clone Names

    • FLJ36113, dJ621N11.3, dJ621N11.4, DKFZp434N0426

    General protein information

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    Preferred Names
    protein MROH8
    Names
    maestro heat-like repeat-containing protein family member 8

    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_033795.2 RefSeqGene

      Range
      5001..83411
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152503.8 → NP_689716.4  protein MROH8 isoform 1

      See identical proteins and their annotated locations for NP_689716.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      ABBA01006615, AL031659, AL136172
      UniProtKB/TrEMBL
      A0A8V8TLY2
      Related
      ENSP00000513568.1, ENST00000343811.10

    2. NM_213631.3 → NP_998796.1  protein MROH8 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs at the 3' end compared to variant 1. The encoded isoform (2) is shorter with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK093432, AL136172, BC030006, BC057767
      UniProtKB/TrEMBL
      Q6PF12
      Related
      ENSP00000513569.1, ENST00000400440.7

    3. NM_213632.3 → NP_998797.2  protein MROH8 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame coding exon and differs at the 3' end compared to variant 1. The encoded isoform (3) is shorter lacking an internal protein segment and with a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AK093432, AL136172, BC057767
      UniProtKB/TrEMBL
      A0A8V8TLF2
      Related
      ENSP00000513570.1, ENST00000421643.2

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      37101167..37179548 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791812.1 Reference GRCh38.p14 PATCHES

      Range
      10640..89050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      38825517..38903925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H579.2 GenPept UniProtKB/Swiss-Prot:Q9H579

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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