BHLHA9 (basic helix-loop-helix family member a9)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
727857
Gene name Gene Name - the full gene name approved by the HGNC.
Basic helix-loop-helix family member a9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BHLHA9
Synonyms (NCBI Gene) Gene synonyms aliases
BHLHF42, CCSPD
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CCSPD
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs672601337 A>G Pathogenic Coding sequence variant, missense variant
rs672601338 G>C Pathogenic Coding sequence variant, missense variant
rs672601339 G>T Pathogenic Coding sequence variant, missense variant
rs886037856 GA>TT Likely-pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005515 Function Protein binding IPI 25466284, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615416 35126 ENSG00000205899
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q7RTU4
Protein name Class A basic helix-loop-helix protein 9 (bHLHa9) (Class F basic helix-loop-helix factor 42) (bHLHf42)
Protein function Transcription factor, which play a role in limb development. Is an essential player in the regulatory network governing transcription of genes implicated in limb morphogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 66 → 118 Helix-loop-helix DNA-binding domain Domain
Sequence 
MLRGAPGLGLTARKGAEDSAEDLGGPCPEPGGDSGVLGANGASCSRGEAEEPAGRRRARP
VRSKARRMAANVRERKRILDYNEAFNALRRALRHDLGGKRLSKIATLRRAIHRIAALSLV
LRASPAPRGPCGHLECHGPAARGDTGDTGASPPPPAGPSLARPDAARPSVPSAPRCASCP
PHAPLARPSAVAEGPGLAQASGGSWRRCPGASSAGPPPWPRGYLRSAPGMGHPRS
Sequence length 235
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Camptosynpolydactyly Camptosynpolydactyly, Complex rs886037856 27041388
Ectrodactyly Ectrodactyly rs1850314485
Polydactyly Polydactyly, Polydactyly preaxial type 1 rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474
View all (3 more)		 22147889
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Syndactyly mesoaxial synostotic syndactyly with phalangeal reduction GenCC
Tibial Aplasia-Ectrodactyly Syndrome tibial aplasia-ectrodactyly syndrome GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining
Disease Name Relationship Type References
Adamantinoma Associate 25351291
Alcohol Related Disorders Associate 23035971
Alcoholism Associate 23035971
Autistic Disorder Associate 23035971
Bipolar Disorder Associate 23035971
Developmental Disabilities Associate 23035971
Ectrodactyly Associate 25351291
Femur bifid with monodactylous ectrodactyly Associate 25351291
Split hand foot malformation with long bone deficiency Associate 23813913, 25351291
Split Hand Foot Malformation With Long Bone Deficiency 3 Stimulate 36028842