Human Gene AFDN (ENST00000392108.7_2) from GENCODE V47lift37
  Description: afadin, adherens junction formation factor, transcript variant 2 (from RefSeq NM_001040000.3)
Gencode Transcript: ENST00000392108.7_2
Gencode Gene: ENSG00000130396.22_21
Transcript (Including UTRs)
   Position: hg19 chr6:168,227,671-168,364,976 Size: 137,306 Total Exon Count: 30 Strand: +
Coding Region
   Position: hg19 chr6:168,227,813-168,363,262 Size: 135,450 Coding Exon Count: 30 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:168,227,671-168,364,976)mRNA (may differ from genome)Protein (1651 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsMalacards
MGIOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AFAD_HUMAN
DESCRIPTION: RecName: Full=Afadin; AltName: Full=ALL1-fused gene from chromosome 6 protein; Short=Protein AF-6;
FUNCTION: Belongs to an adhesion system, probably together with the E-cadherin-catenin system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton.
SUBUNIT: Homodimer. Interacts with F-actin, nectin and PVRL3/nectin-3. Essential for the association of nectin and E- cadherin. Isoform 1/s-afadin does not interact with F-actin. Interacts with ZO-1 and occludin, but probably in an indirect manner. Interacts with RIT1 and RIT2 (By similarity). Interacts with NRXN1 and BCR.
SUBCELLULAR LOCATION: Cell junction, adherens junction. Note=Not found at cell-matrix AJs.
DOMAIN: The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminus domain interacts with F-actin.
DISEASE: Note=A chromosomal aberration involving MLLT4 is associated with acute leukemias. Translocation t(6;11)(q27;q23) with MLL/HRX. The result is a rogue activator protein.
SIMILARITY: Contains 1 dilute domain.
SIMILARITY: Contains 1 FHA domain.
SIMILARITY: Contains 1 PDZ (DHR) domain.
SIMILARITY: Contains 2 Ras-associating domains.
SEQUENCE CAUTION: Sequence=CAB82312.1; Type=Frameshift; Positions=1509, 1512, 1701;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AF6.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: AFDN
Diseases sorted by gene-association score: central nervous system leukemia (16), cleft lip/palate-ectodermal dysplasia syndrome (7), acute monocytic leukemia (7), acrodermatitis chronica atrophicans (7), myeloid/lymphoid or mixed lineage leukemia (6), leukemia, acute myeloid (1)

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 29.20 RPKM in Esophagus - Mucosa
Total median expression: 575.37 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -89.30142-0.629 Picture PostScript Text
3' UTR -517.801714-0.302 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018444 - Dil_domain
IPR002710 - Dilute
IPR000253 - FHA_dom
IPR001478 - PDZ
IPR000159 - Ras-assoc
IPR008984 - SMAD_FHA_domain

Pfam Domains:
PF00498 - FHA domain
PF00595 - PDZ domain
PF00788 - Ras association (RalGDS/AF-6) domain
PF01843 - DIL domain
PF17820 - PDZ domain

SCOP Domains:
101447 - Formin homology 2 domain (FH2 domain)
49879 - SMAD/FHA domain
50156 - PDZ domain-like
54236 - Ubiquitin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1T2M - NMR MuPIT 1XZ9 - NMR MuPIT 2AIN - NMR MuPIT 2EXG - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P55196
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0017016 Ras GTPase binding
GO:0045296 cadherin binding

Biological Process:
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0007267 cell-cell signaling
GO:0032880 regulation of protein localization
GO:0034332 adherens junction organization
GO:0043547 positive regulation of GTPase activity
GO:0090557 establishment of endothelial intestinal barrier

Cellular Component:
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0005912 adherens junction
GO:0005913 cell-cell adherens junction
GO:0016607 nuclear speck
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  LF210696 - JP 2014500723-A/18199: Polycomb-Associated Non-Coding RNAs.
BC156048 - Synthetic construct Homo sapiens clone IMAGE:100062353, MGC:190478 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4) mRNA, encodes complete protein.
BC156934 - Synthetic construct Homo sapiens clone IMAGE:100063579, MGC:190804 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4) mRNA, encodes complete protein.
U02478 - Human AF-6 mRNA, complete cds.
KT258903 - Homo sapiens l-afadin mRNA, complete cds.
AB209420 - Homo sapiens mRNA for Afadin variant protein.
AB621809 - Homo sapiens MLLT4 mRNA for afadin, complete cds, clone: HP06858-RBd05D03.
BC014505 - Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4, mRNA (cDNA clone IMAGE:4861456), partial cds.
AL161973 - Homo sapiens mRNA; cDNA DKFZp761K2213 (from clone DKFZp761K2213); partial cds.
MA446273 - JP 2018138019-A/18199: Polycomb-Associated Non-Coding RNAs.
S82517 - MLL-AF6=fusion gene {breakpoint region} [human, blood, leukemia patient 1, mRNA Partial, 69 nt].
DQ387206 - Homo sapiens chromosome der(11) MLL/AF6 fusion protein (MLL/AF6 fusion) mRNA, partial cds.
LF340319 - JP 2014500723-A/147822: Polycomb-Associated Non-Coding RNAs.
LF340320 - JP 2014500723-A/147823: Polycomb-Associated Non-Coding RNAs.
LF340321 - JP 2014500723-A/147824: Polycomb-Associated Non-Coding RNAs.
LF340323 - JP 2014500723-A/147826: Polycomb-Associated Non-Coding RNAs.
LF340327 - JP 2014500723-A/147830: Polycomb-Associated Non-Coding RNAs.
LF340328 - JP 2014500723-A/147831: Polycomb-Associated Non-Coding RNAs.
MA575896 - JP 2018138019-A/147822: Polycomb-Associated Non-Coding RNAs.
MA575897 - JP 2018138019-A/147823: Polycomb-Associated Non-Coding RNAs.
MA575898 - JP 2018138019-A/147824: Polycomb-Associated Non-Coding RNAs.
MA575900 - JP 2018138019-A/147826: Polycomb-Associated Non-Coding RNAs.
MA575904 - JP 2018138019-A/147830: Polycomb-Associated Non-Coding RNAs.
MA575905 - JP 2018138019-A/147831: Polycomb-Associated Non-Coding RNAs.
LF340333 - JP 2014500723-A/147836: Polycomb-Associated Non-Coding RNAs.
LF340335 - JP 2014500723-A/147838: Polycomb-Associated Non-Coding RNAs.
DQ578645 - Homo sapiens piRNA piR-46757, complete sequence.
LF340336 - JP 2014500723-A/147839: Polycomb-Associated Non-Coding RNAs.
LF340337 - JP 2014500723-A/147840: Polycomb-Associated Non-Coding RNAs.
LF340339 - JP 2014500723-A/147842: Polycomb-Associated Non-Coding RNAs.
LF340341 - JP 2014500723-A/147844: Polycomb-Associated Non-Coding RNAs.
LF340342 - JP 2014500723-A/147845: Polycomb-Associated Non-Coding RNAs.
BX649158 - Homo sapiens mRNA; cDNA DKFZp686E0329 (from clone DKFZp686E0329).
LF340344 - JP 2014500723-A/147847: Polycomb-Associated Non-Coding RNAs.
LF340356 - JP 2014500723-A/147859: Polycomb-Associated Non-Coding RNAs.
LF340357 - JP 2014500723-A/147860: Polycomb-Associated Non-Coding RNAs.
LF340358 - JP 2014500723-A/147861: Polycomb-Associated Non-Coding RNAs.
LF340359 - JP 2014500723-A/147862: Polycomb-Associated Non-Coding RNAs.
LF340360 - JP 2014500723-A/147863: Polycomb-Associated Non-Coding RNAs.
LF340519 - JP 2014500723-A/148022: Polycomb-Associated Non-Coding RNAs.
LF340361 - JP 2014500723-A/147864: Polycomb-Associated Non-Coding RNAs.
LF340520 - JP 2014500723-A/148023: Polycomb-Associated Non-Coding RNAs.
LF340362 - JP 2014500723-A/147865: Polycomb-Associated Non-Coding RNAs.
LF340363 - JP 2014500723-A/147866: Polycomb-Associated Non-Coding RNAs.
LF340521 - JP 2014500723-A/148024: Polycomb-Associated Non-Coding RNAs.
AK091815 - Homo sapiens cDNA FLJ34496 fis, clone HLUNG2005076.
AX747198 - Sequence 723 from Patent EP1308459.
LF340365 - JP 2014500723-A/147868: Polycomb-Associated Non-Coding RNAs.
LF340366 - JP 2014500723-A/147869: Polycomb-Associated Non-Coding RNAs.
AK055689 - Homo sapiens cDNA FLJ31127 fis, clone IMR322000859.
AF085836 - Homo sapiens full length insert cDNA clone YI41D03.
MA575910 - JP 2018138019-A/147836: Polycomb-Associated Non-Coding RNAs.
MA575912 - JP 2018138019-A/147838: Polycomb-Associated Non-Coding RNAs.
MA575913 - JP 2018138019-A/147839: Polycomb-Associated Non-Coding RNAs.
MA575914 - JP 2018138019-A/147840: Polycomb-Associated Non-Coding RNAs.
MA575916 - JP 2018138019-A/147842: Polycomb-Associated Non-Coding RNAs.
MA575918 - JP 2018138019-A/147844: Polycomb-Associated Non-Coding RNAs.
MA575919 - JP 2018138019-A/147845: Polycomb-Associated Non-Coding RNAs.
MA575921 - JP 2018138019-A/147847: Polycomb-Associated Non-Coding RNAs.
MA575933 - JP 2018138019-A/147859: Polycomb-Associated Non-Coding RNAs.
MA575934 - JP 2018138019-A/147860: Polycomb-Associated Non-Coding RNAs.
MA575935 - JP 2018138019-A/147861: Polycomb-Associated Non-Coding RNAs.
MA575936 - JP 2018138019-A/147862: Polycomb-Associated Non-Coding RNAs.
MA575937 - JP 2018138019-A/147863: Polycomb-Associated Non-Coding RNAs.
MA576096 - JP 2018138019-A/148022: Polycomb-Associated Non-Coding RNAs.
MA575938 - JP 2018138019-A/147864: Polycomb-Associated Non-Coding RNAs.
MA576097 - JP 2018138019-A/148023: Polycomb-Associated Non-Coding RNAs.
MA575939 - JP 2018138019-A/147865: Polycomb-Associated Non-Coding RNAs.
MA575940 - JP 2018138019-A/147866: Polycomb-Associated Non-Coding RNAs.
MA576098 - JP 2018138019-A/148024: Polycomb-Associated Non-Coding RNAs.
MA575942 - JP 2018138019-A/147868: Polycomb-Associated Non-Coding RNAs.
MA575943 - JP 2018138019-A/147869: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P55196 (Reactome details) participates in the following event(s):

R-HSA-419003 Interaction of Nectins with Afadin
R-HSA-433725 Interaction of Afadin with F-actin
R-HSA-418990 Adherens junctions interactions
R-HSA-421270 Cell-cell junction organization
R-HSA-446728 Cell junction organization
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: AF6, AFAD_HUMAN, AFDN , ENST00000392108.1, ENST00000392108.2, ENST00000392108.3, ENST00000392108.4, ENST00000392108.5, ENST00000392108.6, MLLT4, NM_001040000, O75087, O75088, O75089, P55196, Q59FP0, Q5TIG6, Q5TIG7, Q9NSN7, Q9NU92, uc318uvr.1
UCSC ID: ENST00000392108.7_2
RefSeq Accession: NM_001040000.3
Protein: P55196 (aka AFAD_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.