BHLHA9 Gene
protein-coding GIFtS: 29
GCID: GC17P001175
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basic helix-loop-helix family, member a9
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Aliases
for BHLHA9 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Basic Helix-Loop-Helix Family, Member A91 2 | | Class A Basic Helix-Loop-Helix Protein 92 | | BHLHF421 2 3 | | Class II Basic Helix-Loop-Helix Protein2 | | BHLHa91 | | BHLHf421 | | Class F Basic Helix-Loop-Helix Factor 422 3 | | |
Export aliases for BHLHA9 gene to outside databasesPrevious GC identifers: GC17P001121 GC17P001174 GC17P001076 |
Summaries
for BHLHA9 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: BHA09_HUMAN, Q7RTU4Function: Putative transcription factor (By similarity)
|
Genomic Views
for BHLHA9 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010718.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BHLHA9 gene promoter:
AhR RFX1 CUTL1 GATA-1 C/EBPalpha PPAR-alpha CREB PPAR-gamma1 deltaCREB PPAR-gamma2
Other transcription factors
Search SABiosciences Chromatin IP Primers for BHLHA9
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BHLHA9 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17p13.3 Ensembl cytogenetic band: 17p13.3 HGNC cytogenetic band: 17p13.3BHLHA9 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17P001175: view genomic region
(about GC identifiers)
Start:
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1,173,853 bp from pter |
End:
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1,174,754 bp from pter |
Size:
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902 bases |
Orientation:
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plus strand |
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Proteins
for BHLHA9 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BHA09_HUMAN, Q7RTU4 (See
protein sequence)Recommended Name: Class A basic helix-loop-helix protein 9 Size: 235 amino acids; 24132 Da
Subcellular location: Nucleus (By similarity)
Sequence caution: Sequence=DAA00302.1; Type=Erroneous initiation;
Secondary accessions: A8MSH6Explore the universe of human proteins at neXtProt for BHLHA9: NX_Q7RTU4
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q7RTU4
BHLHA9 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_001157877.1
ENSEMBL proteins: ENSP00000375248
Human Recombinant Protein Products for BHLHA9:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
IEA | -- |
BHLHA9 for ontologies About GeneDecksing
BHLHA9 Antibody Products:
Assay Products for BHLHA9: |
Protein
Domains /
Families
for BHLHA9 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BHLHA9 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q7RTU4ProtoNet protein and cluster: Q7RTU4 1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH
UniProtKB/Swiss-Prot: BHA09_HUMAN, Q7RTU4Similarity: Contains 1 bHLH (basic helix-loop-helix) domain |
Function
for BHLHA9 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: BHA09_HUMAN, Q7RTU4Function: Putative transcription factor (By similarity) Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003677 | DNA binding |
IEA | -- | | GO:0046983 | protein dimerization activity |
IEA | -- |
BHLHA9 for ontologies About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BHLHA9 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BHLHA9
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: BHLHA9 (NM_001164405) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BHLHA9 | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BHLHA9 |
|
Pathways & Interactions
for BHLHA9 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BHLHA9
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- |
BHLHA9 for ontologies About GeneDecksing
|
Drugs & Compounds
for BHLHA9 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BHLHA9
Search CenterWatch for drugs/clinical trials and news about BHLHA9 / BHA09
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Transcripts
for BHLHA9 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BHLHA9 gene: NM_001164405.1 Unigene Cluster for BHLHA9: Basic helix-loop-helix family, member a9 Hs.723790 Unigene Representative Sequence: NM_0011644051 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000391429(uc021tnd.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BHLHA9 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BHLHA9
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: BHLHA9 (NM_001164405) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for BHLHA9 | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BHLHA9 |
GeneLoc Exon Structure
|
Expression
for BHLHA9 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| BHLHA9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See BHLHA9 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.723790
SABiosciences Custom PCR Arrays for BHLHA9
Primer
Products: | | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat BHLHA9 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BHLHA9 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BHLHA9 |
Orthologs
for BHLHA9 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of human and mouse.
Orthologs for BHLHA9 gene from 1/6 species (see all 6) About this table
ENSEMBL Gene Tree for BHLHA9 (if available)
TreeFam Gene Tree for BHLHA9 (if available) |
Paralogs
for BHLHA9 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for BHLHA9 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 17 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BHLHA9 (1173853 - 1174754 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for BHLHA9: --
Human Gene Mutation Database (HGMD): BHLHA9
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BHLHA9 |
|
Disorders
/ Diseases
for BHLHA9 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 BHLHA9 for disorders About MalaCards
BHLHA9 for disorders About GeneDecksing
Export disorders for BHLHA9 gene to outside databases
|
Publications
for BHLHA9 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for BHLHA9 gene integrated from 9 sources:
(articles sorted by number of sources associating them with BHLHA9) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PubMed id 14516699)1, 2, 3 McLellan A.S.... Kealey T. (2002)
- Phylogenetic and expression analysis of the basic helix-loop-helix transcription factor gene family: genomic approach to cellular differentiation. (PubMed id 18557763)1, 3 Stevens J.D....Skinner M.K. (2008)
- Duplications of BHLHA9 are associated with ectrodactyl y and tibia hemimelia inherited in non-Mendelian fashion. (PubMed id 22147889)1 Klopocki E....Mundlos S. (2012)
- Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems. (PubMed id 23035971)1 Capra V....Gimelli G. (2012)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
- Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening. (PubMed id 12617822)1 McLellan A.S.... Kealey T. (2002)
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External Searches for BHLHA9 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing BHLHA9 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BHLHA9 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BHLHA9 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BHLHA9 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for BHLHA9 gene:
Search GeneIP for patents involving BHLHA9
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BHLHA9 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BHLHA9 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BHLHA9 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BHLHA9 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BHLHA9 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BHLHA9 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BHLHA9 |
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 |  |  |  | |
| | | | Search Tocris compounds for BHLHA9 |
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 | | | | |  |  |  |  | | | | Search ThermoFisher Antibodies for BHLHA9 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BHLHA9 |
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