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

Gene ID: 140699, updated on 17-Sep-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
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Genomic context

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See MROH8 in Genome Data Viewer
Location:
20q11.23
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37101167..37179548, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (38825517..38903925, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (35729570..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 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, A0AAG2UW59
    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
    A0AAG2UW82, 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, A0AAG2UWF2
    Related
    ENSP00000513570.1, ENST00000421643.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

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