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Aliases for BHLHB9 Gene

Aliases for BHLHB9 Gene

  • Basic Helix-Loop-Helix Family Member B9 2 3 5
  • Basic Helix-Loop-Helix Domain Containing, Class B, 9 2 3
  • Transcription Regulator Of 60 KDa 3 4
  • P60TRP 3 4
  • P60-Like Protein 3
  • Protein BHLHb9 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 Family Member B9) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and binding. An important paralog of this gene is GPRASP1.

UniProtKB/Swiss-Prot for BHLHB9 Gene

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

Additional gene information for BHLHB9 Gene

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

Genomics for BHLHB9 Gene

GeneHancer (GH) Regulatory Elements for BHLHB9 Gene

Promoters and enhancers for BHLHB9 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ102720 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 650.7 +0.1 113 1.2 HDAC1 CLOCK ATF1 TAF9B SIN3A ZEB1 YY1 ZNF335 RCOR1 FOS GC0XM102718 BHLHB9 MORF4L2-AS1 LINC00630 ARMCX5 ENSG00000239407 TCEAL3-AS1 TCEAL9 BEX4
GH0XJ102711 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 650.4 -7.7 -7684 2.4 PKNOX1 ATF1 ZBTB7B RAD21 ZEB1 YY1 ZNF335 GLIS2 SCRT2 ATF7 GPRASP2 BHLHB9 GC0XM102718 ARMCX5-GPRASP2
GH0XJ102748 Promoter 0.5 EPDnew 650.3 +28.0 28002 0.1 BHLHB9 LINC00630
GH0XJ102658 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE 1.4 -61.2 -61189 2.6 CLOCK ATF1 FOXA2 ARID4B SIN3A YY1 FOS ATF7 MXD4 REST ENSG00000270050 GPRASP1 LINC00630 ARMCX5 ENSG00000239407 TCEAL3-AS1 TCEAL9 BHLHB9 ARMCX5-GPRASP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BHLHB9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BHLHB9 gene promoter:
  • Nkx2-5
  • AREB6
  • Egr-1
  • NF-kappaB1
  • NF-kappaB2
  • NF-kappaB
  • POU3F1
  • AML1a
  • HSF1 (long)

Genomic Locations for BHLHB9 Gene

Genomic Locations for BHLHB9 Gene
32,853 bases
Plus strand
32,853 bases
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:
    Recommended name:
    Protein BHLHb9
    Protein Accession:
    Secondary Accessions:
    • Q9C0G2

    Protein attributes for BHLHB9 Gene

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

neXtProt entry for BHLHB9 Gene

Post-translational modifications for BHLHB9 Gene

  • Ubiquitination at posLast=342342
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BHLHB9 Gene

Domains & Families for BHLHB9 Gene

Gene 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



  • Belongs to the GPRASP 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.

Gene Ontology (GO) - Molecular Function for BHLHB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity ISS --
genes like me logo Genes that share ontologies with BHLHB9: view
genes like me logo Genes that share phenotypes with BHLHB9: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BHLHB9

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 BHLHB9 gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 4
cytoskeleton 3
plasma membrane 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BHLHB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with BHLHB9: view

Pathways & Interactions for BHLHB9 Gene

SuperPathways for BHLHB9 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BHLHB9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007611 learning or memory ISS --
GO:0043524 negative regulation of neuron apoptotic process ISS --
GO:0050769 positive regulation of neurogenesis ISS --
GO:0051965 positive regulation of synapse assembly 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BHLHB9

Clone Products

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: - - -
SP8: -
SP9: -
SP10: - - - - -
SP11: - - - - - -
SP12: - - - - -

Relevant External Links for BHLHB9 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BHLHB9 Gene

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

Protein tissue co-expression partners for BHLHB9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BHLHB9 Gene:


SOURCE GeneReport for Unigene cluster for BHLHB9 Gene:


mRNA Expression by UniProt/SwissProt for BHLHB9 Gene:

Tissue specificity: Highly expressed in brain. Not expressed in lung or liver. Down-regulated in brain from patients suffering from Alzheimer disease.

Evidence on tissue expression from TISSUES for BHLHB9 Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with BHLHB9: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for BHLHB9 Gene

Orthologs for BHLHB9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BHLHB9 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia BHLHB9 34 33
  • 98.78 (n)
(Canis familiaris)
Mammalia BHLHB9 34 33
  • 86.89 (n)
(Bos Taurus)
Mammalia BHLHB9 33
  • 85.15 (n)
(Mus musculus)
Mammalia Bhlhb9 16 34 33
  • 80.45 (n)
(Rattus norvegicus)
Mammalia Bhlhb9 33
  • 80.32 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 26 (a)
(Gallus gallus)
Aves -- 34
  • 21 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 18 (a)
(Danio rerio)
Actinopterygii ARMCX3 34
  • 16 (a)
Species where no ortholog for BHLHB9 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)
  • 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

Gene Tree for BHLHB9 (if available)
Gene Tree for BHLHB9 (if available)
Evolutionary constrained regions (ECRs) for BHLHB9: view image

Paralogs for BHLHB9 Gene

Paralogs for BHLHB9 Gene

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

  • BHLH9_HUMAN 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 Variation AA Info Type
rs1000123838 -- 102,724,803(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000138235 -- 102,746,610(+) C/T intron_variant
rs1000205035 -- 102,734,583(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000464718 -- 102,746,023(+) C/T 5_prime_UTR_variant, intron_variant
rs1000495868 -- 102,724,346(+) G/A genic_upstream_transcript_variant, 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)

Additional Variant Information for BHLHB9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for BHLHB9 Gene

Additional Disease Information for 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 (Journal of cellular biochemistry 2004) 2 3 4 58
  2. 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 58
  3. Mammalian BEX, WEX and GASP genes: coding and non-coding chimaerism sustained by gene conversion events. (PMID: 16221301) Winter EE … Ponting CP (BMC evolutionary biology 2005) 2 3 58
  4. Glutamate E15 and E171 are Hotspots in p60TRP-Related Cancer. (PMID: 26854063) Kutzner A … Heese K (Cancer investigation 2016) 3 58
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58

Products for BHLHB9 Gene

Sources for BHLHB9 Gene

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