BHLHA9

Protein identityUniProt · HPA

UniProt accession

Q7RTU4

Gene

BHLHA9

Ensembl

ENSG00000205899

Chromosome

17

Canonical length

235 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

OverviewNCBI 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 variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]

Canonical amino-acid sequenceUniProt

235 residues, UniProt reviewed canonical sequence.

>Q7RTU4|BHLHA9
     1  MLRGAPGLGL TARKGAEDSA EDLGGPCPEP GGDSGVLGAN GASCSRGEAE EPAGRRRARP
    61  VRSKARRMAA NVRERKRILD YNEAFNALRR ALRHDLGGKR LSKIATLRRA IHRIAALSLV
   121  LRASPAPRGP CGHLECHGPA ARGDTGDTGA SPPPPAGPSL ARPDAARPSV PSAPRCASCP
   181  PHAPLARPSA VAEGPGLAQA SGGSWRRCPG ASSAGPPPWP RGYLRSAPGM GHPRS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BHLHA9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

1.3 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BHLHA9.

Disease | AllUniProt

Conditions BHLHA9 is implicated in, by any mechanism.

• Split-hand/foot malformation with long bone deficiency 3 (SHFLD3) MIM:612576
• Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) MIM:609432
• Camptosynpolydactyly, complex (CCSPD) MIM:607539

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 95 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Mesoaxial synostotic syndactyly with phalangeal reduction
• Camptosynpolydactyly, complex

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.89

gnomAD pLI

0.3

gnomAD missense Z

0.02

DepMap mean gene effect

0.1

DepMap dependency class

none

OntologyGO

Biological processes

• developmental process
• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein heterodimerization activity
• RNA polymerase II transcription regulatory region sequence-specific DNA binding

Cellular components

• chromatin
• cytoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Myc-type, basic helix-loop-helix (bHLH) domain
• Helix-loop-helix DNA-binding domain superfamily
• E-box Binding Transcriptional Regulators
• Helix-loop-helix DNA-binding domain

KeywordsUniProt

• Cytoplasm
• Developmental protein
• DNA-binding
• Nucleus
• Transcription
• Transcription regulation

InteractionsUniProt · HPA

Protein binding partners of BHLHA9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TCF3
• TCF4
• TCF12