MFSD4B

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			6 clinvar	1 clinvar		7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	6	1	0	7

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

SLC-mediated transmembrane transport
Transport of small molecules
Cellular hexose transport

Biological Process

sodium ion transport
glucose transmembrane transport

Molecular Function

glucose transmembrane transporter activity
symporter activity

Cellular Component

integral component of membrane
apical plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000368847
Coding exons: 4
Length: 11820
Individuals with no LoFs: 121228
Homozygous LoFs: 54
Heterozygous LoFs: 4465
Defined: 125747
p: 0.0181

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.291	262	276	0.951	0.0000139	3354
Missense (PolyPhen)		54	55.116	0.97975		665
Synonymous	-0.427	110	104	1.05	0.00000561	1068
Loss of Function	1.21	10	15.1	0.664	8.72e-7	191

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0048	0.0048	notable
Latino/Admixed American	0.013	0.013	notable
Ashkenazi Jewish	0.022	0.022	notable
East Asian	0.00049	0.00049	rare
Finnish	0.012	0.012	notable
European (Non-Finnish)	0.028	0.028	notable
South Asian	0.0070	0.0069	notable
Other	0.022	0.022	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May function as a sodium-dependent glucose transporter. Potential channels for urea in the inner medulla of kidney. {ECO:0000250|UniProtKB:Q80T22}.;

Recessive Scores

pRec: 0.110

Intolerance Scores

RVIS EVS: 0.13
RVIS percentile EVS: 63.49

Essentials

Essential (gene trap): N