MELTF
protein-codingmelanotransferrin, the group of Transferrins|CD molecules
Gene summary
The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily. The importance of the iron binding function has not yet been identified. This gene resides in the same region of chromosome 3 as members of the transferrin superfamily. Alternative splicing results in two transcript variants. [provided by RefSeq, Jul 2008]
- MFI2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~49.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to MELTF variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_005929.6. Only rare variants are included.
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 | 4 | 4 | ||||
| missense | 21 | 1 | 22 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 6 | 6 | ||||
| Total | 0 | 0 | 31 | 0 | 1 | 32 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_005920.2 | 16 | MANE Select | |
| Ensembl | ENSP00000296350.5 | 16 | MANE Select | |
| RefSeq | NP_201573.1 | 7 | Standard | |
| Ensembl | ENSP00000296351.4 | 7 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- 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)
Biological Process
- regulation of cell growth
- iron ion transport
- positive regulation of plasminogen activation
- regulation of cell population proliferation
- post-translational protein modification
Molecular Function
- iron ion binding
- protein binding
Cellular Component
- extracellular region
- endoplasmic reticulum lumen
- plasma membrane
- cell surface
- anchored component of plasma membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000296350
- Coding exons
- 16
- Length
- 41196
- Individuals with no LoFs
- 125476
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 272
- Defined
- 125748
- p
- 0.00108
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0140 | 469 | 468 | 1.00 | 0.0000314 | 4725 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0029 | 0.0028 | notable |
| Latino/Admixed American | 0.00038 | 0.00038 | rare |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0.00056 | 0.00054 | rare |
| Finnish | 0.000047 | 0.000046 | rare |
| European (Non-Finnish) | 0.0016 | 0.0015 | notable |
| South Asian | 0.00084 | 0.00082 | rare |
| Other | 0.00083 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.163
Intolerance Scores
- RVIS EVS
- -0.09
- RVIS percentile EVS
- 46.5
Essentials
- Essential (gene trap)
- N