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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]
AFDN (Afadin, Adherens Junction Formation Factor) is a Protein Coding gene. Diseases associated with AFDN include Cleft Lip/Palate-Ectodermal Dysplasia Syndrome and Leukemia. Among its related pathways are Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling and Ras signaling pathway.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 17491594 |
GO:0008022 | protein C-terminus binding | TAS | 10856295 |
GO:0017016 | Ras GTPase binding | IPI | 23885123 |
GO:0045296 | cadherin binding | HDA | 25468996 |
GO:0050839 | cell adhesion molecule binding | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005886 | plasma membrane | IDA | -- |
GO:0005911 | cell-cell junction | IEA,IDA | 19461049 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling | ||
2 | Cell junction organization | ||
3 | Sertoli-Sertoli Cell Junction Dynamics |
Germ Cell-Sertoli Cell Junction Dynamics
.38
Sertoli-Sertoli Cell Junction Dynamics
.38
|
Epithelial Tight Junctions
.36
|
4 | Ras signaling pathway | ||
5 | Blood-Brain Barrier: Anatomy |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007155 | cell adhesion | TAS | 10856295 |
GO:0007165 | signal transduction | IEA | -- |
GO:0007267 | cell-cell signaling | TAS | 8242616 |
GO:0010628 | positive regulation of gene expression | IMP | 25893857 |
GO:0021537 | telencephalon development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
(5R)-2-sulfanyl-5-[4-(trifluoromethyl)benzyl]-1,3-thiazol-4(5H)-one | Experimental | Pharma | Target | 0 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MLLT4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MLLT4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mllt4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mllt4 30 31 |
|
OneToOne | |
Afdn 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | MLLT4 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MLLT4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MLLT4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MLLT4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mllt4 30 |
|
||
Str.20348 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.22528 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mllt4 30 31 |
|
OneToMany | |
MLLT4 (3 of 3) 31 |
|
OneToMany | |||
MLLT4 (2 of 3) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | cno 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | afd-1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
771409 | Benign: not provided | 167,948,301(+) | G/A | SYNONYMOUS_VARIANT | |
rs1057519562 | Uncertain Significance: not specified | 167,915,425(+) | ATC/TGA | NONSENSE | |
rs35140809 | Uncertain Significance: not specified | 167,896,967(+) | A/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
cleft lip/palate-ectodermal dysplasia syndrome |
|
|
leukemia |
|
|
leukemia, acute myeloid |
|
|