Cell atlas - BHLHA9 - The Human Protein Atlas

We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.

BHLHA9

TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

Please wait until image is loaded before changing channels

GENERAL INFORMATION
Gene name	BHLHA9
Gene description	Basic helix-loop-helix family, member a9
Protein class	Disease related genes Predicted intracellular proteins Transcription factors
Predicted localization	Intracellular
Number of transcripts	1
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION
Summary
RNA cell category	Not detected
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Not detected Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

GENE INFORMATION
Gene name	BHLHA9 (HGNC Symbol)
Synonyms	bHLHa9, BHLHF42
Description	Basic helix-loop-helix family, member a9 (HGNC Symbol)
Entrez gene summary	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]
Chromosome	17
Cytoband	p13.3
Chromosome location (bp)	1270559 - 1271460
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000205899 (version 83.38)
Entrez gene	727857
UniProt	Q7RTU4 (UniProt - Evidence at protein level)
neXtProt	NX_Q7RTU4
Antibodypedia	BHLHA9 antibodies

PROTEIN BROWSER

BHLHA9-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
BHLHA9-001 ENSP00000375248 ENST00000391429	Q7RTU4 [Direct mapping] Class A basic helix-loop-helix protein 9 Show all	Predicted intracellular proteins Transcription factors Basic domains Disease related genes Show all	GO:0003677 [DNA binding] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0007275 [multicellular organismal development] GO:0046982 [protein heterodimerization activity] GO:0046983 [protein dimerization activity] Show all	235 aa 24.1 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.