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    MROH2B maestro heat like repeat family member 2B [ Homo sapiens (human) ]

    Gene ID: 133558, updated on 27-Nov-2024

    Summary

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    Official Symbol
    MROH2Bprovided by HGNC
    Official Full Name
    maestro heat like repeat family member 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:26857
    See related
    Ensembl:ENSG00000171495 MIM:620930; AllianceGenome:HGNC:26857
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SPIF; HEATR7B2
    Summary
    Predicted to be involved in protein kinase A signaling. Predicted to be located in sperm midpiece. Predicted to be active in acrosomal vesicle. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 23.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See MROH2B in Genome Data Viewer
    Location:
    5p13.1
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (40998020..41071342, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (41254444..41327790, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (40998122..41071444, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr5:40860098-40860299 Neighboring gene MPRA-validated peak5236 silencer Neighboring gene MPRA-validated peak5237 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:40877367-40878566 Neighboring gene caspase recruitment domain family member 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:40895839-40896488 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:40916273-40916808 Neighboring gene RNA, U7 small nuclear 161 pseudogene Neighboring gene complement C7 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:41008527-41009726 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:41064203-41064771 Neighboring gene uncharacterized LOC105374739 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:41122112-41123311 Neighboring gene complement C6 Neighboring gene NANOG hESC enhancer GRCh37_chr5:41230420-41230921 Neighboring gene NANOG hESC enhancer GRCh37_chr5:41252597-41253129 Neighboring gene uncharacterized LOC124900969 Neighboring gene uncharacterized LOC102723740

    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. Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. Kallio SP, et al. Hum Mol Genet, 2009 May 1. PMID 19221116, Free PMC Article
    2. A novel germ cell protein, SPIF (sperm PKA interacting factor), is essential for the formation of a PKA/TCP11 complex that undergoes conformational and phosphorylation changes upon capacitation. Stanger SJ, et al. FASEB J, 2016 Aug. PMID 27105888
    3. DSBSO-Based XL-MS Analysis of Breast Cancer PDX Tissues to Delineate Protein Interaction Network in Clinical Samples. Jiao F, et al. J Proteome Res, 2024 Aug 2. PMID 38334954, Free PMC Article
    4. A census of human soluble protein complexes. Havugimana PC, et al. Cell, 2012 Aug 31. PMID 22939629, Free PMC Article
    5. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article

    See all (10) 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.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40243, DKFZp781F0822

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein kinase A signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in acrosomal vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in acrosomal vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm flagellum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sperm midpiece ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    maestro heat-like repeat-containing protein family member 2B
    Names
    HEAT repeat family member 7B2
    HEAT repeat family member B2
    HEAT repeat-containing protein 7B2
    sperm PKA-interacting factor

    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.

    mRNA and Protein(s)

    1. NM_173489.5 → NP_775760.3  maestro heat-like repeat-containing protein family member 2B

      See identical proteins and their annotated locations for NP_775760.3

      Status: VALIDATED

      Source sequence(s)
      AC114967, AK128183, BC034600, BC044937, BC052962, BF979306, CR749346
      Consensus CDS
      CCDS47202.1
      UniProtKB/Swiss-Prot
      Q68DM1, Q7Z4U4, Q7Z745, Q8N7X3
      Related
      ENSP00000382476.4, ENST00000399564.5
      Conserved Domains (1) summary
      sd00044
      Location:1306 → 1329
      HEAT; HEAT repeat [structural motif]

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      40998020..41071342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513953.2 → XP_011512255.1  maestro heat-like repeat-containing protein family member 2B isoform X2

      Conserved Domains (1) summary
      sd00044
      Location:1244 → 1267
      HEAT; HEAT repeat [structural motif]

    2. XM_011513952.2 → XP_011512254.1  maestro heat-like repeat-containing protein family member 2B isoform X1

      Conserved Domains (1) summary
      sd00044
      Location:1306 → 1329
      HEAT; HEAT repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      41254444..41327790 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351591.1 → XP_054207566.1  maestro heat-like repeat-containing protein family member 2B isoform X2

    2. XM_054351590.1 → XP_054207565.1  maestro heat-like repeat-containing protein family member 2B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z745.3 GenPept UniProtKB/Swiss-Prot:Q7Z745

    Gene LinkOut

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

    Chemical Information
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