Tissue expression of PDE6C - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	PDE6C
Gene description	Phosphodiesterase 6C, cGMP-specific, cone, alpha prime
Protein class	Disease related genes Enzymes Potential drug targets Predicted intracellular proteins
Predicted localization	Intracellular
Number of transcripts	1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Not detected
GTEx:	Mixed
FANTOM5:	Tissue enriched (retina)

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

Caudate

N/A

Cerebellum

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

Bronchus

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

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

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

Skin

N/A

Skin

N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Not detected
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (retina)

GENE INFORMATION
Gene name	PDE6C (HGNC Symbol)
Synonyms	ACHM5, COD4, PDEA2
Description	Phosphodiesterase 6C, cGMP-specific, cone, alpha prime (HGNC Symbol)
Entrez gene summary	This gene encodes the alpha-prime subunit of cone phosphodiesterase, which is composed of a homodimer of two alpha-prime subunits and 3 smaller proteins of 11, 13, and 15 kDa. Mutations in this gene are associated with cone dystrophy type 4 (COD4). [provided by RefSeq, Mar 2010]
Chromosome	10
Cytoband	q23.33
Chromosome location (bp)	93612588 - 93666010
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000095464 (version 83.38)
Entrez gene	5146
UniProt	P51160 (UniProt - Evidence at protein level)
neXtProt	NX_P51160
Antibodypedia	PDE6C antibodies

PROTEIN BROWSER

PDE6C-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PDE6C-001 ENSP00000360502 ENST00000371447	P51160 [Direct mapping] Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' Show all	Enzymes ENZYME proteins Hydrolases Phobius predicted membrane proteins Predicted intracellular proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0004114 [3',5'-cyclic-nucleotide phosphodiesterase activity] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0007165 [signal transduction] GO:0007601 [visual perception] GO:0007603 [phototransduction, visible light] GO:0008081 [phosphoric diester hydrolase activity] GO:0008152 [metabolic process] GO:0030553 [cGMP binding] GO:0046549 [retinal cone cell development] GO:0046872 [metal ion binding] GO:0047555 [3',5'-cyclic-GMP phosphodiesterase activity] GO:0050953 [sensory perception of light stimulus] Show all	858 aa 99.1 kDa	No	0