Tissue expression of DFNB59 - Summary - The Human Protein Atlas

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DFNB59

TISSUE

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CELL

CANCER

TISSUE ATLAS

GENE/PROTEIN

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	DFNB59
Gene description	Deafness, autosomal recessive 59
Protein class	Disease related genes Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	3
	SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (testis)
GTEx:	Expressed in all
FANTOM5:	Tissue enhanced (testis)

Protein evidence

Evidence at protein level

DATA RELIABILITY
Reliability score	Pending normal tissue annotation.

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

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (testis)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Expressed in all
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (testis)

GENE INFORMATION
Gene name	DFNB59 (HGNC Symbol)
Synonyms	pejvakin
Description	Deafness, autosomal recessive 59 (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
Chromosome	2
Cytoband	q31.2
Chromosome location (bp)	178451436 - 178461390
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000204311 (version 83.38)
Entrez gene	494513
UniProt	Q0ZLH3 (UniProt - Evidence at protein level)
neXtProt	NX_Q0ZLH3
Antibodypedia	DFNB59 antibodies

PROTEIN BROWSER

DFNB59-001	DFNB59-003	DFNB59-005

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
DFNB59-001 ENSP00000386647 ENST00000409117	Q0ZLH3 [Direct mapping] Pejvakin Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Show all	GO:0007605 [sensory perception of sound] GO:0043025 [neuronal cell body] Show all	352 aa 39.9 kDa	No	0
DFNB59-003 ENSP00000364271 ENST00000375129	Q0ZLH3 [Direct mapping] Pejvakin Show all	SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Disease related genes Show all		352 aa 39.9 kDa	No	0
DFNB59-005 ENSP00000410776 ENST00000442710	H7C3A9 [Direct mapping] Pejvakin Show all	Predicted intracellular proteins Show all		156 aa 17.2 kDa	No	0

Contact

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The Project

The Human Protein Atlas

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