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

Gene ID: 339766, updated on 21-Mar-2023

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
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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_03 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233775724..233833418)
RS_2023_03 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 UDP glucuronosyltransferase family 1 member A1 Neighboring gene Holliday junction recognition protein Neighboring gene MSL complex subunit 3 pseudogene 1

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

See citations in PubMed for homologs of this gene provided by HomoloGene

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
 PubMed 

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
    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
    F8VUA0
    Related
    ENSP00000374408.3, ENST00000389758.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

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

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

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

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

  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

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

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

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

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

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

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

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

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

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

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

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

  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

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

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

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

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

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

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

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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