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

2014-11-01  

Identity

HGNC
BHLHA9
LOCATION
17p13.3
LOCUSID
727857
ALIAS
BHLHF42,CCSPD

Other Information

Locus ID:

NCBI: 727857
MIM: 615416
HGNC: 35126
Ensembl: ENSG00000205899

Variants:

dbSNP: 727857
ClinVar: 727857
TCGA: ENSG00000205899
COSMIC: BHLHA9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205899ENST00000391429Q7RTU4

Expression (GTEx)

0
1
2
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
230359712012Identification of a rare 17p13.3 duplication including the BHLHA9 and YWHAE genes in a family with developmental delay and behavioural problems.11
221478892012Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.0
237901882014Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families.0
253512912014Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.0
254662842014Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type.0
263334112015Femoral-tibial-digital malformations in a boy with the Japanese founder triplication of BHLHA9.0
301072442019A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.0
311529182019A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly.0
312006552019Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.0

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)