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Aliases for BHLHB9 Gene

Aliases for BHLHB9 Gene

  • Basic Helix-Loop-Helix Domain Containing, Class B, 9 2 3 5
  • Transcription Regulator Of 60 KDa 3 4
  • P60TRP 3 4
  • P60-Like Protein 3
  • KIAA1701 4
  • BHLHb9 4
  • GASP3 3

External Ids for BHLHB9 Gene

Previous GeneCards Identifiers for BHLHB9 Gene

  • GC0XP101781
  • GC0XP101865
  • GC0XP101975
  • GC0XP091573

Summaries for BHLHB9 Gene

Entrez Gene Summary for BHLHB9 Gene

  • This gene is a member of a gene family which encodes proteins with a basic helix-loop-helix domain. Other members of this gene family encode proteins which function as transcription factors, either enhancing or inhibiting transcription depending on the activity of other DNA binding proteins. The coding region of this gene is located entirely within the terminal exon. The encoded protein may be involved in the survival of neurons (PMID: 15034937). Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

GeneCards Summary for BHLHB9 Gene

BHLHB9 (Basic Helix-Loop-Helix Domain Containing, Class B, 9) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity and binding. An important paralog of this gene is ARMCX6.

UniProtKB/Swiss-Prot for BHLHB9 Gene

  • May play a role in the control of cellular aging and survival.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BHLHB9 Gene

Genomics for BHLHB9 Gene

Regulatory Elements for BHLHB9 Gene

Enhancers for BHLHB9 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BHLHB9 on UCSC Golden Path with GeneCards custom track

Promoters for BHLHB9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BHLHB9 on UCSC Golden Path with GeneCards custom track

Genomic Location for BHLHB9 Gene

Chromosome:
X
Start:
102,720,688 bp from pter
End:
102,753,540 bp from pter
Size:
32,853 bases
Orientation:
Plus strand

Genomic View for BHLHB9 Gene

Genes around BHLHB9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BHLHB9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BHLHB9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BHLHB9 Gene

Proteins for BHLHB9 Gene

  • Protein details for BHLHB9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6PI77-BHLH9_HUMAN
    Recommended name:
    Protein BHLHb9
    Protein Accession:
    Q6PI77
    Secondary Accessions:
    • Q9C0G2

    Protein attributes for BHLHB9 Gene

    Size:
    547 amino acids
    Molecular mass:
    60291 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB21792.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for BHLHB9 Gene

Proteomics data for BHLHB9 Gene at MOPED

Post-translational modifications for BHLHB9 Gene

  • Ubiquitination at Lys 342
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BHLHB9 Gene

Domains & Families for BHLHB9 Gene

Protein Domains for BHLHB9 Gene

Suggested Antigen Peptide Sequences for BHLHB9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6PI77

UniProtKB/Swiss-Prot:

BHLH9_HUMAN :
  • Belongs to the GPRASP family.
Family:
  • Belongs to the GPRASP family.
genes like me logo Genes that share domains with BHLHB9: view

Function for BHLHB9 Gene

Molecular function for BHLHB9 Gene

UniProtKB/Swiss-Prot Function:
May play a role in the control of cellular aging and survival.
UniProtKB/Swiss-Prot Induction:
Down-regulated in colon cancer cells, due to CpG hypermethylation of its promoter.
genes like me logo Genes that share phenotypes with BHLHB9: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BHLHB9 Gene

Localization for BHLHB9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BHLHB9 Gene

Cytoplasm. Nucleus. Note=Mainly cytoplasmic, and nuclear at lower level.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BHLHB9 Gene COMPARTMENTS Subcellular localization image for BHLHB9 gene
Compartment Confidence
extracellular 5
nucleus 4
cytoskeleton 3
cytosol 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for BHLHB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with BHLHB9: view

Pathways & Interactions for BHLHB9 Gene

SuperPathways for BHLHB9 Gene

No Data Available

Interacting Proteins for BHLHB9 Gene

Gene Ontology (GO) - Biological Process for BHLHB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043524 negative regulation of neuron apoptotic process ISS --
GO:0061003 positive regulation of dendritic spine morphogenesis ISS --
genes like me logo Genes that share ontologies with BHLHB9: view

No data available for Pathways by source and SIGNOR curated interactions for BHLHB9 Gene

Drugs & Compounds for BHLHB9 Gene

No Compound Related Data Available

Transcripts for BHLHB9 Gene

Unigene Clusters for BHLHB9 Gene

Basic helix-loop-helix domain containing, class B, 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BHLHB9 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h
SP1: - - - -
SP2: - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - -
SP7:
SP8: -
SP9: -
SP10: - - - - -
SP11: - - - - - -
SP12: - - - - -

Relevant External Links for BHLHB9 Gene

GeneLoc Exon Structure for
BHLHB9
ECgene alternative splicing isoforms for
BHLHB9

Expression for BHLHB9 Gene

mRNA expression in normal human tissues for BHLHB9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BHLHB9 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.1).

Protein differential expression in normal tissues from HIPED for BHLHB9 Gene

This gene is overexpressed in Heart (41.1) and Retina (23.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for BHLHB9 Gene



SOURCE GeneReport for Unigene cluster for BHLHB9 Gene Hs.4276

mRNA Expression by UniProt/SwissProt for BHLHB9 Gene

Q6PI77-BHLH9_HUMAN
Tissue specificity: Highly expressed in brain. Not expressed in lung or liver. Down-regulated in brain from patients suffering from Alzheimer disease.
genes like me logo Genes that share expression patterns with BHLHB9: view

Protein tissue co-expression partners for BHLHB9 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for BHLHB9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BHLHB9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BHLHB9 35
  • 85.15 (n)
  • 77.82 (a)
dog
(Canis familiaris)
Mammalia BHLHB9 35
  • 86.89 (n)
  • 80.71 (a)
BHLHB9 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bhlhb9 35
  • 80.45 (n)
  • 74.67 (a)
Bhlhb9 16
Bhlhb9 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BHLHB9 35
  • 98.78 (n)
  • 98.77 (a)
BHLHB9 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bhlhb9 35
  • 80.32 (n)
  • 74.86 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 26 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 21 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 18 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ARMCX3 36
  • 16 (a)
OneToMany
Species with no ortholog for BHLHB9:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for BHLHB9 Gene

ENSEMBL:
Gene Tree for BHLHB9 (if available)
TreeFam:
Gene Tree for BHLHB9 (if available)

Paralogs for BHLHB9 Gene

Paralogs for BHLHB9 Gene

(1) SIMAP similar genes for BHLHB9 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for BHLHB9 Gene

genes like me logo Genes that share paralogs with BHLHB9: view

Variants for BHLHB9 Gene

Sequence variations from dbSNP and Humsavar for BHLHB9 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs2179675 - 102,749,389(+) GTAAT(A/G)GTTTC reference, missense
rs4514179 - 102,749,947(+) TGGAA(C/T)GCTAT reference, missense
rs747781642 -- 102,742,822(+) TTTCT(C/T)AAGGT intron-variant
rs747805882 -- 102,749,467(+) GGGCC(A/G)ATTGC reference, missense
rs747869711 -- 102,727,760(+) AATTT(A/T)AAAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BHLHB9 Gene

Variant ID Type Subtype PubMed ID
nsv526716 CNV Gain 19592680

Variation tolerance for BHLHB9 Gene

Residual Variation Intolerance Score: 79.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BHLHB9 Gene

HapMap Linkage Disequilibrium report
BHLHB9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BHLHB9 Gene

Disorders for BHLHB9 Gene

Relevant External Links for BHLHB9

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BHLHB9

No disorders were found for BHLHB9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BHLHB9 Gene

Publications for BHLHB9 Gene

  1. Characterizing the new transcription regulator protein p60TRP. (PMID: 15034937) Heese K. … Sawada T. (J. Cell. Biochem. 2004) 2 3 4 67
  2. Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism sustained by gene conversion events. (PMID: 16221301) Winter E.E. … Ponting C.P. (BMC Evol. Biol. 2005) 2 3
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3
  5. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales P.A. … Knepper M.A. (J. Am. Soc. Nephrol. 2009) 3

Products for BHLHB9 Gene

Sources for BHLHB9 Gene

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