Tissue expression of SLC24A5 - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	SLC24A5
Gene description	Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
Protein class	Disease related genes Potential drug targets Predicted membrane proteins Transporters
Predicted localization	Membrane
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Group enriched (skin, testis)
GTEx:	Tissue enhanced (cerebellum)
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: Group enriched (skin, testis)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebellum)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (retina)

GENE INFORMATION
Gene name	SLC24A5 (HGNC Symbol)
Synonyms	JSX, OCA6
Description	Solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 (HGNC Symbol)
Entrez gene summary	This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]
Chromosome	15
Cytoband	q21.1
Chromosome location (bp)	48120972 - 48142672
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000188467 (version 83.38)
Entrez gene	283652
UniProt	Q71RS6 (UniProt - Evidence at protein level)
neXtProt	NX_Q71RS6
Antibodypedia	SLC24A5 antibodies

PROTEIN BROWSER

SLC24A5-001	SLC24A5-002	SLC24A5-004

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SLC24A5-001 ENSP00000341550 ENST00000341459	Q71RS6 [Direct mapping] Sodium/potassium/calcium exchanger 5 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0005262 [calcium channel activity] GO:0005509 [calcium ion binding] GO:0005802 [trans-Golgi network] GO:0006811 [ion transport] GO:0006813 [potassium ion transport] GO:0006874 [cellular calcium ion homeostasis] GO:0008273 [calcium, potassium:sodium antiporter activity] GO:0015293 [symporter activity] GO:0016021 [integral component of membrane] GO:0030955 [potassium ion binding] GO:0031402 [sodium ion binding] GO:0032588 [trans-Golgi network membrane] GO:0034220 [ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0042470 [melanosome] GO:0048022 [negative regulation of melanin biosynthetic process] GO:0050896 [response to stimulus] GO:0055085 [transmembrane transport] GO:0070588 [calcium ion transmembrane transport] Show all	500 aa 54.9 kDa	Yes	>9
SLC24A5-002 ENSP00000453395 ENST00000482911	H0YLZ0 [Direct mapping] Sodium/potassium/calcium exchanger 5 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005802 [trans-Golgi network] GO:0008273 [calcium, potassium:sodium antiporter activity] GO:0016021 [integral component of membrane] GO:0035725 [sodium ion transmembrane transport] GO:0048021 [regulation of melanin biosynthetic process] Show all	122 aa 13.9 kDa	Yes	1
SLC24A5-004 ENSP00000389966 ENST00000449382	Q71RS6 [Direct mapping] Sodium/potassium/calcium exchanger 5 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 9TM proteins predicted by MDM Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0005262 [calcium channel activity] GO:0005509 [calcium ion binding] GO:0005802 [trans-Golgi network] GO:0006811 [ion transport] GO:0006813 [potassium ion transport] GO:0006874 [cellular calcium ion homeostasis] GO:0008273 [calcium, potassium:sodium antiporter activity] GO:0015293 [symporter activity] GO:0016021 [integral component of membrane] GO:0030955 [potassium ion binding] GO:0031402 [sodium ion binding] GO:0032588 [trans-Golgi network membrane] GO:0034220 [ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0042470 [melanosome] GO:0050896 [response to stimulus] GO:0055085 [transmembrane transport] GO:0070588 [calcium ion transmembrane transport] Show all	440 aa 48 kDa	Yes	9