Tissue expression of SCN8A - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	SCN8A
Gene description	Sodium channel, voltage gated, type VIII alpha subunit
Protein class	Disease related genes Plasma proteins Potential drug targets Predicted intracellular proteins Predicted membrane proteins Transporters Voltage-gated ion channels
Predicted localization	Intracellular,Membrane
Number of transcripts	7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (cerebral cortex)
GTEx:	Tissue enhanced (cerebellum)
FANTOM5:	Group enriched (brain, caudate, cerebellum, hippocampus, pituitary gland)

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: Tissue enriched (cerebral cortex)
GTEx dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (cerebellum)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Group enriched (brain, caudate, cerebellum, hippocampus, pituitary gland)

GENE INFORMATION
Gene name	SCN8A (HGNC Symbol)
Synonyms	CerIII, MED, NaCh6, Nav1.6, PN4
Description	Sodium channel, voltage gated, type VIII alpha subunit (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Chromosome	12
Cytoband	q13.13
Chromosome location (bp)	51590266 - 51812864
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000196876 (version 83.38)
Entrez gene	6334
UniProt	Q9UQD0 (UniProt - Evidence at protein level)
neXtProt	NX_Q9UQD0
Antibodypedia	SCN8A antibodies

PROTEIN BROWSER

SCN8A-001	SCN8A-002	SCN8A-004	SCN8A-005	SCN8A-007	SCN8A-008	SCN8A-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SCN8A-001 ENSP00000346534 ENST00000354534	Q9UQD0 [Direct mapping] Sodium channel protein type 8 subunit alpha Show all	Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels 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 Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0001518 [voltage-gated sodium channel complex] GO:0005216 [ion channel activity] GO:0005248 [voltage-gated sodium channel activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005886 [plasma membrane] GO:0006811 [ion transport] GO:0006814 [sodium ion transport] GO:0007399 [nervous system development] GO:0007422 [peripheral nervous system development] GO:0007517 [muscle organ development] GO:0007605 [sensory perception of sound] GO:0007626 [locomotory behavior] GO:0007628 [adult walking behavior] GO:0008344 [adult locomotory behavior] GO:0009636 [response to toxic substance] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0019228 [neuronal action potential] GO:0019233 [sensory perception of pain] GO:0030018 [Z disc] GO:0030425 [dendrite] GO:0033268 [node of Ranvier] GO:0034706 [sodium channel complex] GO:0034765 [regulation of ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0042552 [myelination] GO:0043025 [neuronal cell body] GO:0043194 [axon initial segment] GO:0050905 [neuromuscular process] GO:0055085 [transmembrane transport] GO:0086010 [membrane depolarization during action potential] Show all	1980 aa 225.3 kDa	No	>9
SCN8A-002 ENSP00000486828 ENST00000546961		Predicted intracellular proteins Show all		1 aa 0.1 kDa	No	0
SCN8A-004 ENSP00000447567 ENST00000551216	F8W0Q0 [Direct mapping] Sodium channel protein type 8 subunit alpha 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 4TM proteins predicted by MDM Show all	GO:0001518 [voltage-gated sodium channel complex] GO:0005216 [ion channel activity] GO:0005248 [voltage-gated sodium channel activity] GO:0005886 [plasma membrane] GO:0006811 [ion transport] GO:0016020 [membrane] GO:0019228 [neuronal action potential] GO:0019233 [sensory perception of pain] GO:0034765 [regulation of ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0055085 [transmembrane transport] GO:0086010 [membrane depolarization during action potential] Show all	542 aa 60.9 kDa	No	4
SCN8A-005 ENSP00000347255 ENST00000355133	Q9UQD0 [Direct mapping] Sodium channel protein type 8 subunit alpha Show all	Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels 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 Plasma proteins Disease related genes Potential drug targets Show all	GO:0001518 [voltage-gated sodium channel complex] GO:0005216 [ion channel activity] GO:0005248 [voltage-gated sodium channel activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005886 [plasma membrane] GO:0006811 [ion transport] GO:0006814 [sodium ion transport] GO:0007399 [nervous system development] GO:0007422 [peripheral nervous system development] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0019228 [neuronal action potential] GO:0019233 [sensory perception of pain] GO:0030018 [Z disc] GO:0033268 [node of Ranvier] GO:0034765 [regulation of ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0042552 [myelination] GO:0043194 [axon initial segment] GO:0055085 [transmembrane transport] GO:0086010 [membrane depolarization during action potential] Show all	1939 aa 220.8 kDa	No	>9
SCN8A-007 ENSP00000476447 ENST00000599343	Q9UQD0 [Direct mapping] Sodium channel protein type 8 subunit alpha Show all	Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels 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 Plasma proteins Disease related genes Potential drug targets Show all	GO:0001518 [voltage-gated sodium channel complex] GO:0005216 [ion channel activity] GO:0005248 [voltage-gated sodium channel activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005886 [plasma membrane] GO:0006811 [ion transport] GO:0006814 [sodium ion transport] GO:0007399 [nervous system development] GO:0007422 [peripheral nervous system development] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0019228 [neuronal action potential] GO:0019233 [sensory perception of pain] GO:0030018 [Z disc] GO:0033268 [node of Ranvier] GO:0034765 [regulation of ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0042552 [myelination] GO:0043194 [axon initial segment] GO:0055085 [transmembrane transport] GO:0086010 [membrane depolarization during action potential] Show all	1991 aa 226.4 kDa	No	>9
SCN8A-008 ENSP00000487583 ENST00000627620	Q9UQD0 [Direct mapping] Sodium channel protein type 8 subunit alpha Show all	Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels 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 Plasma proteins Disease related genes Potential drug targets Show all	GO:0001518 [voltage-gated sodium channel complex] GO:0005216 [ion channel activity] GO:0005248 [voltage-gated sodium channel activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005886 [plasma membrane] GO:0006811 [ion transport] GO:0006814 [sodium ion transport] GO:0007399 [nervous system development] GO:0007422 [peripheral nervous system development] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0019228 [neuronal action potential] GO:0019233 [sensory perception of pain] GO:0030018 [Z disc] GO:0033268 [node of Ranvier] GO:0034765 [regulation of ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0042552 [myelination] GO:0043194 [axon initial segment] GO:0055085 [transmembrane transport] GO:0086010 [membrane depolarization during action potential] Show all	1980 aa 225.3 kDa	No	>9
SCN8A-201 ENSP00000440360 ENST00000545061	Q9UQD0 [Direct mapping] Sodium channel protein type 8 subunit alpha Show all	Transporters Transporter channels and pores Voltage-gated ion channels Voltage-Gated Sodium Channels 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 Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Show all	GO:0001518 [voltage-gated sodium channel complex] GO:0005216 [ion channel activity] GO:0005248 [voltage-gated sodium channel activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005886 [plasma membrane] GO:0006811 [ion transport] GO:0006814 [sodium ion transport] GO:0007399 [nervous system development] GO:0007422 [peripheral nervous system development] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016023 [cytoplasmic membrane-bounded vesicle] GO:0019228 [neuronal action potential] GO:0019233 [sensory perception of pain] GO:0030018 [Z disc] GO:0033268 [node of Ranvier] GO:0034765 [regulation of ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0042552 [myelination] GO:0043194 [axon initial segment] GO:0055085 [transmembrane transport] GO:0086010 [membrane depolarization during action potential] Show all	1939 aa 220.8 kDa	No	>9