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BHLHA9

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Tissue enhanced (testis cancer)
HPA (cell line):Not detected
HPA (normal tissue):Not detected

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Estimation of protein expression could not be performed. View primary data.

ANTIBODY IHC RELIABILITY

Data reliability
description

 RNA-based expert annotation gave inconclusive results. No RNA expression data detected and pending external verification.

Reliability score

 Uncertain based on 1 antibody.
HPA062632
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Tissue enhanced (testis cancer)

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA062632

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
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Predicted intracellular proteins
Transcription factors
   Basic domains
Disease related genes
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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]
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 235 aa
24.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

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