SLC16A8 (solute carrier family 16 member 8)

Gene

• Entrez ID: 23539
• Gene name: Solute carrier family 16 member 8
• Gene symbol: SLC16A8
• Synonyms (NCBI Gene): MCT3, REMP
• 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]

Gene ontology (GO)

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

Other IDs

• MIM: 610409
• HGNC: 16270
• e!Ensembl: ENSG00000100156

Protein

• UniProt ID: 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

Pathways

Reactome:

Basigin interactions
Proton-coupled monocarboxylate transport
Pyruvate metabolism

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	23455636, 26691988		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	23455636		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	CTD_human_DG	26691988		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	27966779, 29487693		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	16116050		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	16116050		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35456426	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	28346443		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36160034	Associate	★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	26691988		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	GWASCAT_DG	28346443		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	GWASCAT_DG	28346443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	GWASCAT_DG	28346443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	27966779		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	23455636, 30535121, 30934838, 32717343, 33477551, 34061866, 36036675, 37862026	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21253674		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30535121	Associate	★☆☆☆☆ Found in Text Mining only