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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	388931
Gene name	MFSD2 lysolipid transporter B, sphingolipid
Gene symbol	MFSD2B
Synonyms (NCBI Gene)	SLC59A2
Chromosome	2
Chromosome location	2p23.3

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003376	Process	Sphingosine-1-phosphate receptor signaling pathway	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	29563527
GO:0005886	Component	Plasma membrane	IDA	29045386
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IBA
GO:0006869	Process	Lipid transport	IDA	29045386
GO:0006869	Process	Lipid transport	IEA
GO:0008643	Process	Carbohydrate transport	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0046624	Function	Sphingolipid transporter activity	IBA
GO:0046624	Function	Sphingolipid transporter activity	IDA	29045386
GO:0046624	Function	Sphingolipid transporter activity	IEA
GO:0046624	Function	Sphingolipid transporter activity	TAS
GO:0055085	Process	Transmembrane transport	IBA
GO:1901731	Process	Positive regulation of platelet aggregation	ISS

MIM	HGNC	e!Ensembl
617845	37207	ENSG00000205639

A6NFX1

Protein name

Sphingosine-1-phosphate transporter MFSD2B (Major facilitator superfamily domain-containing protein 2B) (hMfsd2b)

Protein function

Lipid transporter that specifically mediates export of sphingosine-1-phosphate in red blood cells and platelets (PubMed:29045386). Sphingosine-1-phosphate is a signaling sphingolipid and its export from red blood cells into in the plasma is requ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13347	MFS_2	46 → 480		Family

Sequence

MAAPPAPAAKGSPQPEPHAPEPGPGSAKRGREDSRAGRLSFCTKVCYGIGGVPNQIASSA
TAFYLQLFLLDIAQIPAAQVSLVLFGGKVSGAAADPVAGFFINRSQRTGSGRLMPWVLGC
TPFIALAYFFLWFLPPFTSLRGLWYTTFYCLFQALATFFQVPYTALTMLLTPCPRERDSA
TAYRMTVEMAGTLMGATVHGLIVSGAHRPHRCEATATPGPVTVSPNAAHLYCIAAAVVVV
TYPVCISLLCLGVKERPDPSAPASGPGLSFLAGLSLTTRHPPYLKLVISFLFISAAVQVE
QSYLVLFCTHASQLHDHVQGLVLTVLVSAVLSTPLWEWVLQRFGKKTSAFGIFAMVPFAI
LLAAVPTAPVAYVVAFVSGVSIAVSLLLPWSMLPDVVDDFQLQHRHGPGLETIFYSSYVF
FTKLSGACALGISTLSLEFSGYKAGVCKQAEEVVVTLKVLIGAVPTCMILAGLCILMVGS
TPKTPSRDASSRLSLRRRTSYSLA

Sequence length

504

Interactions

View interactions

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 (3)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET ALZHEIMERS DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Schizophrenia	Schizophrenia	Pubtator	35301265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MFSD2B (MFSD2 lysolipid transporter B, sphingolipid)