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Aliases for MROH2B Gene

Aliases for MROH2B Gene

  • Maestro Heat Like Repeat Family Member 2B 2 3 5
  • HEAT Repeat-Containing Protein 7B2 3 4
  • HEAT Repeat Family Member 7B2 2 3
  • Sperm PKA-Interacting Factor 3 4
  • HEATR7B2 3 4
  • SPIF 3 4
  • Maestro Heat-Like Repeat-Containing Protein Family Member 2B 3
  • Maestro Heat-Like Repeat Family Member 2B 2
  • HEAT Repeat Family Member B2 3

External Ids for MROH2B Gene

Previous HGNC Symbols for MROH2B Gene

  • HEATR7B2

Summaries for MROH2B Gene

GeneCards Summary for MROH2B Gene

MROH2B (Maestro Heat Like Repeat Family Member 2B) is a Protein Coding gene. Diseases associated with MROH2B include Interleukin-7 Receptor Alpha Deficiency. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is MROH2A.

UniProtKB/Swiss-Prot for MROH2B Gene

  • May play a role in the process of sperm capacitation.

Additional gene information for MROH2B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MROH2B Gene

Genomics for MROH2B Gene

GeneHancer (GH) Regulatory Elements for MROH2B Gene

Promoters and enhancers for MROH2B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I041071 Promoter 0.5 EPDnew 550.8 0.0 -15 0.1 LOC105374739 MROH2B
GH05I040990 Enhancer 1.1 Ensembl ENCODE 19.2 +80.0 80030 2 FOXA2 ARID4B YY1 SLC30A9 RXRA MXD4 MIER2 REST PPARG KAT8 MROH2B ENSG00000248120 C7
GH05I041246 Enhancer 0.5 ENCODE 9.8 -175.0 -175041 0.5 JUND POLR2A FOSL2 FOS MROH2B C6 GC05M041225 GC05P041223
GH05I041115 Enhancer 0.3 ENCODE 10.1 -44.3 -44270 1.1 FOS MROH2B LOC105374739 GC05P041223
GH05I040984 Enhancer 0.4 ENCODE 6.6 +86.2 86196 1.4 POLR2A FOS MROH2B ENSG00000248120 C7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MROH2B on UCSC Golden Path with GeneCards custom track

Genomic Locations for MROH2B Gene

Genomic Locations for MROH2B Gene
chr5:40,998,017-41,071,342
(GRCh38/hg38)
Size:
73,326 bases
Orientation:
Minus strand
chr5:40,998,119-41,071,444
(GRCh37/hg19)

Genomic View for MROH2B Gene

Genes around MROH2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MROH2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MROH2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MROH2B Gene

Proteins for MROH2B Gene

  • Protein details for MROH2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z745-MRO2B_HUMAN
    Recommended name:
    Maestro heat-like repeat-containing protein family member 2B
    Protein Accession:
    Q7Z745
    Secondary Accessions:
    • Q68DM1
    • Q7Z4U4
    • Q8N7X3

    Protein attributes for MROH2B Gene

    Size:
    1585 amino acids
    Molecular mass:
    180781 Da
    Quaternary structure:
    • Found in a complex at least composed of MROH2B, PRKACA isoform 2 and TCP11. Interacts with PRKACA. Interacts with TCP11.
    SequenceCaution:
    • Sequence=AAP97306.1; Type=Frameshift; Positions=1063, 1080; Evidence={ECO:0000305}; Sequence=BAC05103.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MROH2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MROH2B Gene

Post-translational modifications for MROH2B Gene

  • Constitutively phosphorylated on serine and threonine residues in acrosomal region of the sperm head, midpiece and flagellar regions of noncapacitated spermatozoa. Phosphorylation on tyrosine residues increases upon sperm capacitation within the acrosomal and tail regions in a protein kinase A (PKA)-dependent signaling pathway.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MROH2B Gene

No data available for DME Specific Peptides for MROH2B Gene

Domains & Families for MROH2B Gene

Gene Families for MROH2B Gene

Protein Domains for MROH2B Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MROH2B Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MROH2B: view

No data available for UniProtKB/Swiss-Prot for MROH2B Gene

Function for MROH2B Gene

Molecular function for MROH2B Gene

UniProtKB/Swiss-Prot Function:
May play a role in the process of sperm capacitation.

Phenotypes From GWAS Catalog for MROH2B Gene

Phenotypes for MROH2B Gene

genes like me logo Genes that share phenotypes with MROH2B: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MROH2B Gene

Localization for MROH2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for MROH2B Gene

Cytoplasm. Cytoplasmic vesicle, secretory vesicle, acrosome. Cell projection, cilium, flagellum. Note=Colocalizes with PRKACA and TCP11 on the acrosome and tail regions in round spermatids and spermatozoa regardless of the capacitation status of the sperm. {ECO:0000250 UniProtKB:Q7M6Y6}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MROH2B gene
Compartment Confidence
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for MROH2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle ISS --
GO:0005737 cytoplasm ISS --
GO:0031410 cytoplasmic vesicle IEA --
GO:0036126 sperm flagellum ISS,IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with MROH2B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MROH2B Gene

Pathways & Interactions for MROH2B Gene

SuperPathways for MROH2B Gene

No Data Available

Interacting Proteins for MROH2B Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000382476%0d%0a9606.ENSP00000338703%0d%0a
Selected Interacting proteins: ENSP00000382476 Q7Z745-MRO2B_HUMAN for MROH2B Gene via STRING IID

Gene Ontology (GO) - Biological Process for MROH2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007283 spermatogenesis IEA --
GO:0010737 protein kinase A signaling ISS,IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with MROH2B: view

No data available for Pathways by source and SIGNOR curated interactions for MROH2B Gene

Drugs & Compounds for MROH2B Gene

No Compound Related Data Available

Transcripts for MROH2B Gene

Unigene Clusters for MROH2B Gene

Maestro heat-like repeat family member 2B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MROH2B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1: - -
SP2:
SP3:
SP4:

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41a · 41b ^ 42 ^ 43
SP1: - -
SP2: -
SP3:
SP4:

Relevant External Links for MROH2B Gene

GeneLoc Exon Structure for
MROH2B
ECgene alternative splicing isoforms for
MROH2B

Expression for MROH2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MROH2B Gene

mRNA differential expression in normal tissues according to GTEx for MROH2B Gene

This gene is overexpressed in Testis (x50.0).

Protein differential expression in normal tissues from HIPED for MROH2B Gene

This gene is overexpressed in Nasopharynx (25.1) and Bone marrow stromal cell (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MROH2B Gene



NURSA nuclear receptor signaling pathways regulating expression of MROH2B Gene:

MROH2B

SOURCE GeneReport for Unigene cluster for MROH2B Gene:

Hs.97714
genes like me logo Genes that share expression patterns with MROH2B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MROH2B Gene

Orthologs for MROH2B Gene

This gene was present in the common ancestor of animals.

Orthologs for MROH2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HEATR7B2 33
  • 99.24 (n)
MROH2B 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MROH2B 33 34
  • 88.39 (n)
cow
(Bos Taurus)
Mammalia MROH2B 33 34
  • 86.52 (n)
rat
(Rattus norvegicus)
Mammalia Mroh2b 33
  • 82.8 (n)
mouse
(Mus musculus)
Mammalia Mroh2b 33 16 34
  • 82.57 (n)
oppossum
(Monodelphis domestica)
Mammalia MROH2B 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MROH2B 34
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101747491 33
  • 50.37 (n)
-- 34
  • 20 (a)
OneToMany
-- 34
  • 19 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 30 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta c11.1 34
  • 16 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hpo-27 34
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
OneToMany
Species where no ortholog for MROH2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MROH2B Gene

ENSEMBL:
Gene Tree for MROH2B (if available)
TreeFam:
Gene Tree for MROH2B (if available)

Paralogs for MROH2B Gene

Paralogs for MROH2B Gene

(4) SIMAP similar genes for MROH2B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MROH2B: view

Variants for MROH2B Gene

Sequence variations from dbSNP and Humsavar for MROH2B Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs70988830 benign, not specified 41,033,830(-) T/TATCTATCTATTT/TATCTATTT/TATCTTATTT/TATTT/TTATTT intron_variant
rs1000089882 -- 41,044,279(-) C/T intron_variant
rs1000133282 -- 41,072,464(-) T/C upstream_transcript_variant
rs1000167219 -- 41,013,817(-) C/T intron_variant
rs1000176124 -- 41,054,012(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MROH2B Gene

Variant ID Type Subtype PubMed ID
esv2658451 CNV deletion 23128226
esv2759341 CNV loss 17122850
esv35077 CNV loss 17911159
esv3604832 CNV loss 21293372
esv3604833 CNV gain 21293372
esv3894179 CNV loss 25118596
nsv526193 CNV loss 19592680
nsv823055 CNV loss 20364138
nsv830268 CNV gain 17160897

Variation tolerance for MROH2B Gene

Residual Variation Intolerance Score: 99.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.69; 98.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MROH2B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MROH2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MROH2B Gene

Disorders for MROH2B Gene

MalaCards: The human disease database

(1) MalaCards diseases for MROH2B Gene - From: DISEASES

Disorder Aliases PubMed IDs
interleukin-7 receptor alpha deficiency
  • il-7r
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MROH2B

genes like me logo Genes that share disorders with MROH2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MROH2B Gene

Publications for MROH2B Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. A census of human soluble protein complexes. (PMID: 22939629) Havugimana PC … Emili A (Cell 2012) 3 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58
  5. Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS. (PMID: 19221116) Kallio SP … Saarela J (Human molecular genetics 2009) 3 58

Products for MROH2B Gene

Sources for MROH2B Gene

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