AFM
protein-codingafamin
Gene summary
This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~22.3 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 AFM variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001133.2. 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 | 0 | |||||
| missense | 99 | 3 | 102 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 99 | 3 | 0 | 102 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001124.1 | 14 | MANE Select | |
| Ensembl | ENSP00000226355.3 | 14 | MANE Select | |
| Ensembl | ENSP00000523659.1 | 14 | Standard | |
| Ensembl | ENSP00000523660.1 | 14 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- protein stabilization
- vitamin transport
- protein transport within extracellular region
Molecular Function
- protein binding
- vitamin E binding
Cellular Component
- extracellular region
- extracellular space
- extracellular exosome
- blood microparticle
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000226355
- Coding exons
- 14
- Length
- 22292
- Individuals with no LoFs
- 125452
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 294
- Defined
- 125746
- p
- 0.00117
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.578 | 338 | 309 | 1.09 | 0.0000150 | 4007 |
| Missense (PolyPhen) | 110 | 95.835 | 1.1478 | 1340 | ||
| Synonymous | -0.652 | 117 | 108 | 1.08 | 0.00000549 | 1041 |
| Loss of Function | 0.221 | 29 | 30.3 | 0.957 | 0.00000143 | 418 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00093 | 0.00092 | rare |
| Latino/Admixed American | 0.00047 | 0.00046 | rare |
| Ashkenazi Jewish | 0.0046 | 0.0046 | notable |
| East Asian | 0.0054 | 0.0055 | notable |
| Finnish | 0.0018 | 0.0018 | notable |
| European (Non-Finnish) | 0.00051 | 0.00050 | rare |
| South Asian | 0.00055 | 0.00052 | rare |
| Other | 0.00082 | 0.00081 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Functions as carrier for hydrophobic molecules in body fluids (Probable). Essential for the solubility and activity of lipidated Wnt family members, including WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B (PubMed:26902720). Binds vitamin E (PubMed:15952736, PubMed:12463752). May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient (PubMed:15952736). May be involved in the transport of vitamin E across the blood-brain barrier (PubMed:19046407). {ECO:0000269|PubMed:12463752, ECO:0000269|PubMed:15952736, ECO:0000269|PubMed:19046407, ECO:0000269|PubMed:26902720, ECO:0000305}.;
Recessive Scores
- pRec
- 0.127
Intolerance Scores
- LoFtool
- 0.863
- RVIS EVS
- 0.49
- RVIS percentile EVS
- 79.46
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0327
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |