AFTPH
protein-codingaftiphilin, the group of MicroRNA protein coding host genes
Gene summary
Enables clathrin binding activity. Predicted to be involved in protein transport. Located in Golgi apparatus and cytosol. Part of AP-1 adaptor complex. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~68.7 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 AFTPH variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_203437.4. 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 | 1 | 1 | ||||
| missense | 132 | 6 | 138 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 137 | 6 | 0 | 143 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_982261.2 | 9 | MANE Select | |
| Ensembl | ENSP00000387071.1 | 9 | MANE Select | |
| RefSeq | NP_001002243.1 | 8 | Standard | |
| RefSeq | NP_001362898.1 | 9 | Standard |
Model Organisms & Knockout Phenotypes
Observed phenotypic effects in mouse and zebrafish models
| Gene / Model | Organism | Observed Phenotype |
|---|---|---|
| aftphb | Danio rerio | Structure: ventricular system Quality: hydrocephalic abnormal |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- protein transport
- intracellular transport
Molecular Function
- protein transporter activity
- clathrin binding
Cellular Component
- nucleus
- cytoplasm
- Golgi apparatus
- cytosol
- AP-1 adaptor complex
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000238855
- Coding exons
- 9
- Length
- 68675
- Individuals with no LoFs
- 125503
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 1
- Defined
- 125504
- p
- 0.00000398
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.692 | 434 | 477 | 0.911 | 0.0000225 | 6215 |
| Missense (PolyPhen) | 72 | 122.12 | 0.5896 | 1657 | ||
| Synonymous | 0.333 | 167 | 173 | 0.968 | 0.00000860 | 1778 |
| Loss of Function | 5.22 | 1 | 33.7 | 0.0297 | 0.00000173 | 444 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0 | 0.0 | absent |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.0000088 | 0.0000088 | rare |
| South Asian | 0 | 0.0 | absent |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in membrane trafficking.;
Recessive Scores
- pRec
- 0.0848
Intolerance Scores
- LoFtool
- 0.265
- RVIS EVS
- 0.18
- RVIS percentile EVS
- 66.24
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.313
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |