MFSD4B

major facilitator superfamily domain containing 4B, the group of Solute carrier family 60

Basic information

Region (hg38): 6:111259326-111445354

Previous symbols: [ "KIAA1919" ]

Links

ENSG00000173214 ∙ NCBI:91749 ∙ OMIM:617331 ∙ HGNC:21053 ∙ Uniprot:Q5TF39 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MFSD4B gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD4B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in MFSD4B

This is a list of pathogenic ClinVar variants found in the MFSD4B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-111263872-C-T		not specified	Uncertain significance (Jun 18, 2021)
6-111263929-T-C		not specified	Uncertain significance (Aug 18, 2021)
6-111265904-G-T		not specified	Uncertain significance (Aug 16, 2021)
6-111266346-A-G		not specified	Uncertain significance (Jan 17, 2024)
6-111266482-C-T		not specified	Uncertain significance (Oct 29, 2021)
6-111266520-A-G		not specified	Likely benign (Aug 10, 2021)
6-111266910-A-G		not specified	Uncertain significance (Aug 13, 2021)
6-111300067-A-C		Inborn genetic diseases	Uncertain significance (Aug 30, 2022)
6-111300067-A-G			Likely benign (Dec 01, 2022)
6-111300131-A-G		Inborn genetic diseases	Uncertain significance (Feb 15, 2023)
6-111307394-C-G		REV3L-related disorder	Benign (Jun 07, 2019)
6-111307396-G-A		Inborn genetic diseases	Uncertain significance (Dec 22, 2023)
6-111307423-C-T		REV3L-related disorder	Benign (Jun 07, 2019)
6-111307491-T-C		Inborn genetic diseases	Uncertain significance (Apr 27, 2022)
6-111307505-A-G		REV3L-related disorder	Benign (Dec 31, 2019)
6-111307507-A-G		Inborn genetic diseases	Uncertain significance (Apr 10, 2023)
6-111307513-A-C			Likely benign (Feb 07, 2018)
6-111307527-C-T			Benign (Mar 29, 2018)
6-111307543-T-A		Inborn genetic diseases	Uncertain significance (Dec 08, 2023)
6-111307547-C-T		REV3L-related disorder	Likely benign (Dec 30, 2019)
6-111307568-G-T		REV3L-related disorder	Benign (Dec 31, 2019)
6-111309957-G-A		REV3L-related disorder	Likely benign (Mar 25, 2019)
6-111310038-T-C		Inborn genetic diseases	Uncertain significance (Jan 24, 2024)
6-111310051-T-C			Likely benign (Aug 07, 2018)
6-111310090-C-T		REV3L-related disorder	Likely benign (Aug 29, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MFSD4B	protein_coding	protein_coding	ENST00000368847	4	11820

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000830	0.770	121228	54	4465	125747	0.0181

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.291	262	276	0.951	0.0000139	3354
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0182	0.0182
Ashkenazi Jewish	0.0220	0.0223
East Asian	0.000490	0.000489
Finnish	0.0123	0.0123
European (Non-Finnish)	0.0281	0.0280
Middle Eastern	0.000490	0.000489
South Asian	0.00699	0.00692
Other	0.0217	0.0216

dbNSFP

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}.
• Pathway: SLC-mediated transmembrane transport;Transport of small molecules;Cellular hexose transport (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.49

Haploinsufficiency Scores

• pHI: 0.0418
• hipred: N
• hipred_score: 0.146
• ghis: 0.661

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mfsd4b5

Gene ontology

• Biological process: sodium ion transport;glucose transmembrane transport
• Cellular component: integral component of membrane;apical plasma membrane
• Molecular function: glucose transmembrane transporter activity;symporter activity