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MFSD2B major facilitator superfamily domain containing 2B [ Homo sapiens (human) ]

Gene ID: 388931, updated on 18-Nov-2018

Summary

Official Symbol
MFSD2Bprovided by HGNC
Official Full Name
major facilitator superfamily domain containing 2Bprovided by HGNC
Primary source
HGNC:HGNC:37207
See related
Ensembl:ENSG00000205639 MIM:617845; Vega:OTTHUMG00000090819
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Biased expression in bone marrow (RPKM 2.9), placenta (RPKM 0.3) and 1 other tissue See more
Orthologs

Genomic context

See MFSD2B in Genome Data Viewer
Location:
2p23.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (24009022..24026775)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (24232953..24248698)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene UBX domain protein 2A Neighboring gene succinate dehydrogenase complex subunit C pseudogene 3 Neighboring gene RNA, 7SL, cytoplasmic 610, pseudogene Neighboring gene FKBP prolyl isomerase 1B Neighboring gene WD repeat and coiled coil containing Neighboring gene RNA, U6 small nuclear 370, pseudogene Neighboring gene splicing factor 3b subunit 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
NHGRI GWA Catalog

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
sphingolipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sphingolipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
carbohydrate transport IEA
Inferred from Electronic Annotation
more info
 
lipid transport IDA
Inferred from Direct Assay
more info
PubMed 
organic substance transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
major facilitator superfamily domain-containing protein 2B
Names
hMfsd2b

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001346880.1NP_001333809.1  major facilitator superfamily domain-containing protein 2B

    Status: VALIDATED

    Source sequence(s)
    AC104665, BX357394, BX369190, BX647146, CX751215, DR007952, DR731151
    Consensus CDS
    CCDS86824.1
    UniProtKB/Swiss-Prot
    A6NFX1
    Related
    ENSP00000342501.4, ENST00000338315.5
    Conserved Domains (1) summary
    pfam13347
    Location:46477
    MFS_2; MFS/sugar transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    24009022..24026775
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004063.2XP_016859552.1  major facilitator superfamily domain-containing protein 2B isoform X1

  2. XM_017004064.2XP_016859553.1  major facilitator superfamily domain-containing protein 2B isoform X2

  3. XM_017004065.2XP_016859554.1  major facilitator superfamily domain-containing protein 2B isoform X3

  4. XM_017004066.1XP_016859555.1  major facilitator superfamily domain-containing protein 2B isoform X4

  5. XM_017004067.1XP_016859556.1  major facilitator superfamily domain-containing protein 2B isoform X5

  6. XM_017004068.1XP_016859557.1  major facilitator superfamily domain-containing protein 2B isoform X6

  7. XM_017004070.2XP_016859559.1  major facilitator superfamily domain-containing protein 2B isoform X8

  8. XM_017004069.1XP_016859558.1  major facilitator superfamily domain-containing protein 2B isoform X7

RNA

  1. XR_001738742.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001080473.1: Suppressed sequence

    Description
    NM_001080473.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
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