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 f... See more...

Aliases for AFDN Gene

Aliases for AFDN Gene

  • Afadin, Adherens Junction Formation Factor 2 3 5
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia; Translocated To, 4 2 3
  • ALL1-Fused Gene From Chromosome 6 Protein 3 4
  • Protein AF-6 3 4
  • Afadin 3 4
  • MLLT4 3 4
  • AF6 3 4
  • Myeloid/Lymphoid Or Mixed-Lineage Leukemia (Trithorax Homolog, Drosophila); Translocated To, 4 3
  • Afadin Adherens Junction Formation Factor 4
  • L-Afadin 3
  • MLL-AF6 3

External Ids for AFDN Gene

Previous HGNC Symbols for AFDN Gene

  • MLLT4

Summaries for AFDN Gene

Entrez Gene Summary for AFDN Gene

  • 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]

GeneCards Summary for AFDN Gene

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 Ras signaling pathway and Cell adhesion_Endothelial cell contacts by junctional mechanisms.

UniProtKB/Swiss-Prot Summary for AFDN Gene

  • 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) (By similarity). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton (PubMed:11024295). May play a key role in the organization of epithelial structures of the embryonic ectoderm (By similarity). Essential for the organization of adherens junctions (PubMed:30463011).

Gene Wiki entry for AFDN Gene

Additional gene information for AFDN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AFDN Gene

Genomics for AFDN Gene

GeneHancer (GH) Regulatory Elements for AFDN Gene

Promoters and enhancers for AFDN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J167826 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 519.9 +2.3 2253 9.2 EP300 CTCF NRF1 POLR2G USF1 NCOR1 ZFX ZNF639 ZNF10 ZBTB5 AFDN FGFR1OP LINC01558 ENSG00000269155 AFDN-DT ENSG00000285212 piR-46757
GH06J167795 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 500.3 -30.3 -30274 3 NRF1 PCBP1 CEBPG POLR2A NR2F2 JUND TAF15 GATA2 RAD21 MITF ENSG00000269155 LINC01558 ENSG00000285212 LOC441179 AFDN
GH06J167733 Enhancer 1.1 Ensembl ENCODE 20.3 -92.4 -92421 2.6 EP300 FOXK2 POLR2G NCOR1 KDM6A TCF7 ZBTB25 TGIF2 ZBTB7A SMARCC2 AFDN HSALNG0055195 lnc-FRMD1-9
GH06J166997 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.1 -827.2 -827236 5 FOXK2 HNRNPK CTCF SIN3A NRF1 POLR2G SP1 NCOR1 PHF8 TEAD4 RNASET2 ENSG00000227598 ENSG00000272980 FGFR1OP ENSG00000285730 MIR3939 HNRNPA1P49 AFDN GPR31 piR-30188-158
GH06J167706 Enhancer 0.7 Ensembl 25.9 -120.7 -120721 1.6 NRF1 HES1 RUNX1 PTBP1 TAL1 NR2F1 NFATC3 BHLHE40 TBX21 POLR2A AFDN LINC01558 HSALNG0055193 lnc-AFDN-8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AFDN on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AFDN

Genomic Locations for AFDN Gene

Genomic Locations for AFDN Gene
chr6:167,826,922-167,972,023
(GRCh38/hg38)
Size:
145,102 bases
Orientation:
Plus strand
chr6:168,227,602-168,372,703
(GRCh37/hg19)
Size:
145,102 bases
Orientation:
Plus strand

Genomic View for AFDN Gene

Genes around AFDN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AFDN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AFDN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AFDN Gene

Proteins for AFDN Gene

  • Protein details for AFDN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55196-AFAD_HUMAN
    Recommended name:
    Afadin
    Protein Accession:
    P55196
    Secondary Accessions:
    • O75087
    • O75088
    • O75089
    • Q59FP0
    • Q5TIG6
    • Q5TIG7
    • Q9NSN7
    • Q9NU92

    Protein attributes for AFDN Gene

    Size:
    1824 amino acids
    Molecular mass:
    206804 Da
    Quaternary structure:
    • Homodimer. Interacts with F-actin, nectin and NECTIN3. 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. Interacts with ADAM10; the interaction locks ADAM10 at adherens junctions following ADAM10 recruitment to adherens junctions by TSPAN33 (PubMed:30463011).
    Miscellaneous:
    • [Isoform 1]: May be due to intron retention.
    • [Isoform 2]: May be due to intron retention.
    SequenceCaution:
    • Sequence=CAB82312.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for AFDN Gene

    Alternative splice isoforms for AFDN Gene

neXtProt entry for AFDN Gene

Post-translational modifications for AFDN Gene

  • Glycosylation at Asn1263
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for AFDN Gene

Domains & Families for AFDN Gene

Gene Families for AFDN Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for AFDN Gene

Blocks:
  • RA domain
  • Forkhead-associated (FHA)
  • PDZ/DHR/GLGF domain
  • Dilute (DIL) domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AFDN Gene

GenScript: Design optimal peptide antigens:
  • ALL1-fused gene from chromosome 6 protein (AFAD_HUMAN)
  • Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila) (Q5JPV5_HUMAN)
  • Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila) (Q5TIH0_HUMAN)
  • Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila) (Q5TIH1_HUMAN)
  • Myeloid/lymphoid or mixed-lineage leukemia (Trithorax homolog, Drosophila) (Q96C95_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55196

UniProtKB/Swiss-Prot:

AFAD_HUMAN :
  • The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminal domain interacts with F-actin.
Domain:
  • The PDZ/DHR domain interacts with the C-terminus of nectin and the Pro-rich C-terminal domain interacts with F-actin.
genes like me logo Genes that share domains with AFDN: view

Function for AFDN Gene

Molecular function for AFDN Gene

UniProtKB/Swiss-Prot 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) (By similarity). Nectin- and actin-filament-binding protein that connects nectin to the actin cytoskeleton (PubMed:11024295). May play a key role in the organization of epithelial structures of the embryonic ectoderm (By similarity). Essential for the organization of adherens junctions (PubMed:30463011).

Phenotypes From GWAS Catalog for AFDN Gene

Gene Ontology (GO) - Molecular Function for AFDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding 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
genes like me logo Genes that share ontologies with AFDN: view
genes like me logo Genes that share phenotypes with AFDN: view

Animal Models for AFDN Gene

MGI Knock Outs for AFDN:
  • Afdn Afdn<tm1Ytk>
  • Afdn Afdn<tm1Mrcr>
  • Afdn Afdn<tm1a(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AFDN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AFDN Gene

Localization for AFDN Gene

Subcellular locations from UniProtKB/Swiss-Prot for AFDN Gene

Cell junction, adherens junction. Note=Not found at cell-matrix AJs. {ECO:0000250 UniProtKB:O35889}.

Subcellular locations from

COMPARTMENTS