AFDN Gene Summary [Human]
This gene encodes a multi-domain protein involved in signaling and organization of cell junctions during embryogenesis. It has also been identified as the fusion partner of acute lymphoblastic leukemia (ALL-1) gene, involved in acute myeloid leukemias with t(6;11)(q27;q23) translocation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, however, not all have been fully characterized.[provided by RefSeq, May 2011]
Details
| Type | Protein Coding |
| Official Symbol | AFDN |
| Official Name | afadin, adherens junction formation factor [Source:HGNC Symbol;Acc:HGNC:7137] |
| Ensembl ID | ENSG00000130396 |
| Bio databases IDs | |
| Aliases | afadin, adherens junction formation factor |
| Synonyms | 5033403D15, 5033403D15Rik, AF-6, AFADIN, Afadin-6, afadin, adherens junction formation factor, Gm314, I-afadin, l-afadin, LOC100505818, LOC730031, MLL-AF6, MLLT4, S-AFADIN |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AFDN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Arginine and glutamate-rich 1
- Myosin v-like domain
- UDM1_RNF168_RNF169-like
- cell adhesion molecule binding
- Forkhead associated domain
- zDHHC ankyrin repeat binding domain
- proline rich domain
- forkhead associated (FHA) domain superfamily
- Chromatin assembly factor 1 complex p150 subunit, N-terminal
- Ras-binding domain
- DIL domain
- LIM-domain binding
- Domain present in PSD-95, Dlg, and ZO-1/2
- RA domain
- enzyme binding
- canonical PDZ domain
- Cargo binding domain of myosin 5 and similar proteins
- protein binding
- PDZ domain
- active-Ras binding domain
- actin filament binding
- MAP7 (E-MAP-115) family
- FHA domain
- Ubl1_cv_Nsp3_N-like
- cpPDZ_Deg_HtrA-like
- PDZ binding motif
Pathways
Biological processes and signaling networks where the AFDN gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- liver cancer
- acute myeloid leukemia
- COVID-19
- liver cholangiocarcinoma
- cholangiocarcinoma cancer
- perihilar cholangiocarcinoma
- survival
- metastasis
role in cell
- phosphorylation in
- expression in
- differentiation
- activation in
- proliferation
- morphology
- cell-cell adhesion
- migration
- formation
- assembly
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- mitochondrial fraction
- glutaminergic synapse
- spot-like adhesion site
- cell junction
- Cytoplasm
- presynaptic regions
- apical compartment
- somatodendritic region
- focal adhesions
- Plasma Membrane
- Mitochondria
- intercellular junctions
- cell-cell contacts
- cytosol
- endoplasmic reticulum buds
- microsome
- apical membrane
- presynaptic membrane
- postsynaptic membrane
- synaptic membrane
- nucleoplasm
- nuclear speckles
- synaptosomes
- synapse
- intercalated disks
- cytoplasmic vesicles
- anchoring junction
- tight junctions
- junctional complexes
- axons
- postsynaptic density
- postsynaptic terminals
- excitatory synapses
- cell-cell adherens junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AFDN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- signal transduction
- regulation of protein localization
- cell-cell adhesion mediated by cadherin
- positive regulation of gene expression
- positive regulation of cell-cell adhesion
- tight junction assembly
- cell-cell signaling
- pore complex assembly
- cell adhesion
- negative regulation of cell migration
- positive regulation of cell-cell adhesion mediated by cadherin
Cellular Component
Where in the cell the gene product is active
- cell-cell contact zone
- adherens junction
- occluding junction
- cell-cell junction
- nuclear speck
- pore complex
- cell junction
- cytosol
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- actin filament binding
- protein binding
- cadherin binding
- cell adhesion molecule binding
- small GTPase binding