InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BHLHA9

Summary

InnateDB Protein

IDBP-248047.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BHLHA9

Protein Name

basic helix-loop-helix family, member a9

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000375248

InnateDB Gene

IDBG-14607 (BHLHA9)

Protein Structure

UniProt Annotation

Function

Putative transcription factor, which may play a role in limb development. {ECO:0000269PubMed:22147889}.

Subcellular Localization

Nucleus {ECO:0000255PROSITE- ProRule:PRU00981}.

Disease Associations

Split-hand/foot malformation with long bone deficiency 3 (SHFLD3) [MIM:612576]: 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. {ECO:0000269PubMed:22147889}. Note=Disease susceptibility may be associated with variations 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). {ECO:0000269PubMed:22147889}.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function