Entity Details

Primary name BHLHA9
Entity type gene
Source Source Link

Details

PrimaryID727857
RefseqGeneNG_042055
SymbolBHLHA9
Namebasic helix-loop-helix family member a9
Chromosome17
Location17p13.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2006-07-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsBHA09_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007275 multicellular organism development
GO:0032502 developmental process
GO:0046982 protein heterodimerization activity

Diseases

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Disease IDSourceNameDescription
609432 OMIMSyndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD)An autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes. The disease is caused by variants affecting the gene represented in this entry.
607539 OMIMCamptosynpolydactyly, complex (CCSPD)An autosomal recessive disorder characterized by hand and foot deformities consisting of polydactyly with digits arising from the dorsum of hands, syn- and camptodactyly of some fingers, soft tissue syndactyly of first and second toes, and dysplastic nails. The disease may be caused by variants affecting the gene represented in this entry.
612576 OMIMSplit-hand/foot malformation with long bone deficiency 3 (SHFLD3)A disease characterized by the association of split-hand/foot malformation with long bone deficiency involving the tibia and fibula. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod. Phenotypic expression is extremely variable between and within families, and even between limbs of a single patient, ranging from syndactyly and oligodactyly to the most severe monodactyly with only a single phalanx. Limb features include median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Disease susceptibility may be associated with variants affecting the gene represented in this entry. A copy number variation (CNV) resulting in BHLHA9 duplications is a necessary but not sufficient susceptibility factor for Split-hand/foot malformation with long bone deficiency, a highly variable phenotype with reduced penetrance, particularly in females (PubMed:22147889).

Interactions

12 interactions

InteractorPartnerSourcesPublicationsLink
BHLHA9PPP1R12CBioGRID, IntAct32296183 details
BHLHA9TFIP11BioGRID, IntAct32296183 details
BHLHA9MCRS1BioGRID, IntAct32296183 details
BHLHA9KIAA0753BioGRID, IntAct32296183 details
BHLHA9GOLGA6L9BioGRID, IntAct32296183 details
BHLHA9KRT31BioGRID, IntAct32296183 details
BHLHA9NECAB1BioGRID, IntAct32296183 details
BHLHA9BCL2L2BioGRID, IntAct32296183 details
BHLHA9SAT1BioGRID, IntAct32296183 details
BHLHA9POMCBioGRID, IntAct32296183 details
BHLHA9STK16BioGRID, IntAct32296183 details
BHLHA9RNF125BioGRID32296183 details