Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 727857
MIM: 615416
HGNC: 35126
Ensembl: ENSG00000205899
Variants:
dbSNP: 727857
ClinVar: 727857
TCGA: ENSG00000205899
COSMIC: BHLHA9
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000205899 | ENST00000391429 | Q7RTU4 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36028842 | 2022 | SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably. | 0 |
| 36028842 | 2022 | SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably. | 0 |
| 34272776 | 2021 | Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly. | 1 |
| 34272776 | 2021 | Whole exome sequencing identified a novel frameshift variant in the BHLHA9 in an Iranian family with mesoaxial synostotic syndactyly. | 1 |
| 30107244 | 2019 | A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. | 2 |
| 31152918 | 2019 | A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly. | 0 |
| 31200655 | 2019 | Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. | 6 |
| 30107244 | 2019 | A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction. | 2 |
| 31152918 | 2019 | A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly. | 0 |
| 31200655 | 2019 | Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. | 6 |
| 26333411 | 2015 | Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9. | 4 |
| 26333411 | 2015 | Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9. | 4 |
| 23790188 | 2014 | Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. | 13 |
| 25351291 | 2014 | Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. | 13 |
| 25466284 | 2014 | Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. | 14 |
Citation
Dessen P
BHLHA9 (basic helix-loop-helix family member a9)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/60749/bhlha9-(basic-helix-loop-helix-family-member-a9)
