Tissue expression of BHLHA9 - Summary - The Human Protein Atlas

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BHLHA9

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

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 tissue category

HPA:	Not detected
GTEx:	Tissue enhanced (cerebral cortex)

Protein evidence

Evidence at protein level

Protein expression

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

DATA 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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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

N/A

Cerebral cortex

N/A

Hippocampus

N/A

N/A

Caudate

N/A

N/A

Cerebellum

N/A

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

N/A

Bronchus

N/A

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

N/A

N/A

Skin

N/A

Skin

N/A

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
RNA-based expert annotation could not be performed, due to inconclusive results. View immunohistochemistry primary data.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Not detected
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebral cortex)

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.