MFSD4B major facilitator superfamily domain containing 4B [Homo sapiens (human)] - Gene

Summary

Official Symbol: MFSD4Bprovided by HGNC
Official Full Name: major facilitator superfamily domain containing 4Bprovided by HGNC
Primary source: HGNC:HGNC:21053
See related: Ensembl:ENSG00000173214 MIM:617331; AllianceGenome:HGNC:21053
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
Also known as: NaGLT1; SLC60A2; KIAA1919
Summary: Predicted to enable glucose transmembrane transporter activity. Predicted to be involved in glucose transmembrane transport and sodium ion transport. Predicted to be located in apical plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in placenta (RPKM 2.0), testis (RPKM 1.6) and 24 other tissues See more
Orthologs: all
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Genomic context

Location:: 6q21

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (111259339..111280005)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (112442435..112463097)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (111580542..111601208)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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 Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D10S275 (e-PCR)
- UniSTS:147992

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

D16S325 (e-PCR)
- UniSTS:147089

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glucose transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in glucose transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: sodium-dependent glucose transporter 1

Names: major facilitator superfamily domain-containing protein 4B

NCBI Reference Sequences (RefSeq)

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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)

NM_153369.4 → NP_699200.2 sodium-dependent glucose transporter 1

See identical proteins and their annotated locations for NP_699200.2

Status: VALIDATED

Source sequence(s)

AB067506, AI096577, AI151460, AK093136, AL080317, BC036115, BG697347, DB024559, DB027926, DB202540

Consensus CDS

CCDS5090.1

UniProtKB/Swiss-Prot

A8K9M0, Q5TF39, Q8IYB6, Q96PW9, Q9P0D6

UniProtKB/TrEMBL

B3KSA1

Related

ENSP00000500934.1, ENST00000671876.2

Conserved Domains (2) summary

cd06174
Location:1 → 405

MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

pfam07690
Location:2 → 370

MFS_1; Major Facilitator Superfamily