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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
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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

    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

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