Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23539
Gene name	Solute carrier family 16 member 8
Gene symbol	SLC16A8
Synonyms (NCBI Gene)	MCT3REMP
Chromosome	22
Chromosome location	22q13.1
Summary	SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010]

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10493836
GO:0008028	Function	Monocarboxylic acid transmembrane transporter activity	IBA
GO:0008028	Function	Monocarboxylic acid transmembrane transporter activity	IEA
GO:0015129	Function	Lactate transmembrane transporter activity	TAS	10493836
GO:0015293	Function	Symporter activity	IEA
GO:0015718	Process	Monocarboxylic acid transport	IEA
GO:0015727	Process	Lactate transport	IEA
GO:0015727	Process	Lactate transport	TAS	10493836
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10493836
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	21199217, 31791063
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IMP	21199217
GO:0016324	Component	Apical plasma membrane	IDA	31791063
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035873	Process	Lactate transmembrane transport	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0055085	Process	Transmembrane transport	IEA

MIM	HGNC	e!Ensembl
610409	16270	ENSG00000100156

O95907

Protein name

Monocarboxylate transporter 3 (MCT 3) (Solute carrier family 16 member 8)

Protein function

Probable retinal pigment epithelium (RPE)-specific proton-coupled L-lactate transporter (By similarity). May facilitate transport of lactate and H(+) out of the retina and could therefore play a role in pH and ion homeostasis of the outer retina

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	20 → 329	Major Facilitator Superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: Retinal pigment epithelium. {ECO:0000269|PubMed:10493836}.

Sequence

MGAGGPRRGEGPPDGGWGWVVLGACFVVTGFAYGFPKAVSVFFRALMRDFDAGYSDTAWV
SSIMLAMLYGTGPVSSILVTRFGCRPVMLAGGLLASAGMILASFATRLLELYLTAGVLTG
LGLALNFQPSLIMLGLYFERRRPLANGLAAAGSPVFLSALSPLGQQLLERFGWRGGFLLL
GGLLLHCCACGAVMRPPPGPGPRPRRDSAGDRAGDAPGEAEADGAGLQLREASPRVRPRR
RLLDLAVCTDRAFAVYAVTKFLMALGLFVPAILLVNYAKDAGVPDTDAAFLLSIVGFVDI
VARPACGALAGLARLRPHVPYLFSLALLANGLTDLSSARARSYGALVAFCVAFGLSYGMV
GALQFEVLMAAVGAPRFPSALGLVLLVEAAAVLIGPPSAGRLVDVLKNYEIIFYLAGSEV
ALAGVFMAVATNCCLRCAKAAPSGPGTEGGASDTEDAEAEGDSEPLPVVAEEPGNLEALE
VLSARGEPTEPEIEARPRLAAESV

Sequence length

504

Interactions

View interactions

	Reactome
			Basigin interactions Proton-coupled monocarboxylate transport Pyruvate metabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATROPHIC MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MACULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	30535121	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	35456426	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	36160034	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30535121	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Associate	23455636, 30535121, 30934838, 32717343, 33477551, 34061866, 36036675, 37862026	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Associate	30535121	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	30535121, 35456426	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Associate	30535121	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	30535121	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	30535121	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC16A8 (solute carrier family 16 member 8)