MELTF

melanotransferrin, the group of Transferrins|CD molecules

Basic information

Region (hg38): 3:196980590-197029835

Previous symbols: [ "MFI2" ]

Links

ENSG00000163975 ∙ NCBI:4241 ∙ OMIM:155750 ∙ HGNC:7037 ∙ Uniprot:P08582 ∙ 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 MELTF gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MELTF 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			12		1	13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	1

Variants in MELTF

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

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

Position	Type	Phenotype	Significance	ClinVar
3-197003380-C-T		not specified	Uncertain significance (Aug 23, 2021)
3-197008872-T-C		not specified	Uncertain significance (Oct 12, 2021)
3-197009702-C-A		not specified	Uncertain significance (Aug 30, 2021)
3-197015406-C-G		not specified	Uncertain significance (Aug 02, 2021)
3-197015508-G-A		not specified	Uncertain significance (Nov 12, 2021)
3-197017179-C-T		not specified	Uncertain significance (Aug 23, 2021)
3-197022958-G-A		not specified	Uncertain significance (Oct 05, 2021)
3-197023009-C-T		not specified	Uncertain significance (Aug 04, 2021)
3-197023111-C-G		not specified	Uncertain significance (Aug 17, 2021)
3-197024386-T-C		not specified	Uncertain significance (Aug 02, 2021)
3-197024395-G-A		not specified	Uncertain significance (Aug 17, 2021)
3-197027797-C-T			Benign (Mar 29, 2018)
3-197027874-G-A		not specified	Uncertain significance (Jul 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MELTF	protein_coding	protein_coding	ENST00000296350	16	41196

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.18e-16	0.0740	125476	0	272	125748	0.00108

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0140	469	468	1.00	0.0000314	4725
Missense in Polyphen		154	158.56	0.97127		1675
Synonymous	-0.798	231	216	1.07	0.0000170	1515
Loss of Function	0.941	28	33.9	0.826	0.00000163	383

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00330	0.00316
Ashkenazi Jewish	0.0000998	0.0000992
East Asian	0.000561	0.000544
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.00156	0.00151
Middle Eastern	0.000561	0.000544
South Asian	0.000839	0.000817
Other	0.000834	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in iron cellular uptake. Seems to be internalized and then recycled back to the cell membrane. Binds a single atom of iron per subunit. Could also bind zinc. {ECO:0000269|PubMed:7556058}.
• Pathway: Post-translational protein phosphorylation;Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) (Consensus)

Recessive Scores

• pRec: 0.163

Intolerance Scores

• rvis_EVS: -0.09
• rvis_percentile_EVS: 46.5

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.251
• ghis: 0.484

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Meltf

Gene ontology

• Biological process: regulation of cell growth;iron ion transport;positive regulation of plasminogen activation;regulation of cell population proliferation;post-translational protein modification;cellular protein metabolic process;iron ion homeostasis;positive regulation of extracellular matrix disassembly;negative regulation of substrate adhesion-dependent cell spreading
• Cellular component: extracellular region;endoplasmic reticulum lumen;plasma membrane;cell surface;anchored component of plasma membrane;extracellular exosome
• Molecular function: iron ion binding;protein binding