AFDN - afadin, adherens junction formation factor Gene

Also Known as AF6; MLLT4; MLL-AF6; l-afadin

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4301

About AFDN

Cytogenetic location: 6q27 Genomic coordinates (GRCh38): 6:167,826,564-167,972,023 (from NCBI)

This gene has 23 transcripts (splice variants), 202 orthologues and is associated with 81 phenotypes. Ubiquitous expression in esophagus (RPKM 18.5), lung (RPKM 15.9) and 24 other tissues.

Summary

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 Products (8)

mRNA Protein Name
NM_001040000.3 NP_001035089.1 afadin isoform 2
NM_001207008.2 NP_001193937.1 afadin isoform 1
NM_001291964.2 NP_001278893.1 afadin isoform 4
NM_001366319.2 NP_001353248.1 afadin isoform 5
NM_001366320.2 NP_001353249.1 afadin isoform 6
NM_001366321.2 NP_001353250.1 afadin isoform 7
NM_001386888.1 NP_001373817.1 afadin isoform 8
NM_001410951.1 NP_001397880.1 afadin isoform 9

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables actin filament binding IDA
IDA: Inferred from direct assay
16882694 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17491594 GOA
enables small GTPase binding IPI
IPI: Inferred from physical interaction
23885123 GOA
Biological Process GO Annotation Evidence References Source
involved in bicellular tight junction assembly IMP
IMP: Inferred from mutant phenotype
27815408 GOA
involved in establishment of endothelial intestinal barrier IMP
IMP: Inferred from mutant phenotype
23885123 GOA
involved in negative regulation of cell migration IMP
IMP: Inferred from mutant phenotype
16882694 GOA
involved in pore complex assembly IMP
IMP: Inferred from mutant phenotype
30463011 GOA
involved in positive regulation of cell-cell adhesion IMP
IMP: Inferred from mutant phenotype
25893857 GOA
involved in positive regulation of cell-cell adhesion mediated by cadherin IMP
IMP: Inferred from mutant phenotype
16882694 GOA
involved in positive regulation of gene expression IMP
IMP: Inferred from mutant phenotype
25893857 GOA
Cellular Component GO Annotation Evidence References Source
located in cell-cell contact zone IDA
IDA: Inferred from direct assay
16882694 GOA
located in cell-cell junction IDA
IDA: Inferred from direct assay
19461049 GOA
part of pore complex IMP
IMP: Inferred from mutant phenotype
30463011 GOA
located in tight junction IDA
IDA: Inferred from direct assay
27815408 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AFDN Protein Structure

RA

RA: Ras association (RalGDS/AF-6) domain (40 - 133)

RA

RA: Ras association (RalGDS/AF-6) domain (247 - 347)

FHA

FHA: FHA domain (429 - 492)

DIL

DIL: DIL domain (785 - 890)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (1012 - 1089)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1824 a.a.
Protein Preferred Names Protein Names

afadin

  • ALL1-fused gene from chromosome 6 protein

AFDN Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
AFDN P55196 DBN1 Homo sapiens Q16643
Anti Bait CoIP
23750010
Intra
AFDN P55196 SRC Homo sapiens P12931
Anti Tag CoIP
17491594
Intra
AFDN P55196 SRC Homo sapiens P12931
Pull Down
17491594
Intra
AFDN P55196 SRC Homo sapiens P12931
Anti Bait CoIP
17491594
Intra
AFDN P55196 NECTIN2 Homo sapiens Q92692
Anti Bait CoIP
23750010
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome

  • Orofacial Cleft 7

  • Zlotogora-Ogur Syndrome

  • CLPED1

  • Ectodermal Dysplasia, Margarita Island Type

  • Ed4

  • Cleft Lip-Palate-Ectodermal Dysplasia Syndrome

  • Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome

  • Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate

  • Ectodermal Dysplasia 4

  • Ectodermal Dysplasia Margarita Type

  • Ectodermal Dysplasia, Type 4

  • Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly

  • Margarita Type Of Ectodermal Dysplasia

  • Zlotogora-Zilberman-Tenenbaum Syndrome

  • Ectd4

  • Ectodermal Dysplasia 4, Hair/Nail Type

  • EDMI

  • Ectodermal Dysplasia Type 4

  • Margarita Island Ectodermal Dysplasia

  • Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate

  • Non-Syndromic Orofacial Cleft 7

  • OFC7

  • Non-Syndromic Cleft Lip/Palate 7

  • Non-Syndromic Cleft Lip With Or Without Cleft Palate 7
Leukemia

  • Leukemias

  • Leukaemia, Unspecified, Without Mention Of Remission

  • Aleukemic Leukaemia

  • Chronic Leukaemia

  • Subacute Leukaemia

  • Leukaemia Disorder

  • Leukaemia Nos
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

  • Eec Syndrome

  • Rudiger Syndrome 1

  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

  • EEC1

  • Eec Syndrome 1

  • Eec Syndrome-1

  • Walker-Clodius Syndrome

  • Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome

  • Eec

  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

  • Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

  • Ectrodactyly-Cleft Lip/Palate Syndrome

  • Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

  • Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

  • Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

  • Ectrodactyly-Cleft Lip-Palate Syndrome

  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
Childhood Acute Myeloid Leukemia

  • Childhood Acute Myeloid Leukaemia

  • Paediatric Acute Myeloid Leukaemia

  • Pediatric Acute Myeloid Leukemia
Leukemia, Acute Myeloid

  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS00427 AFDN Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris AFDN VGNC VGNC:37685
Felis catus AFDN VGNC VGNC:68272
Macaca mulatta AFDN VGNC VGNC:69818
Rattus norvegicus AFDN RGD RGD:708561
Mus musculus AFDN MGD MGI:1314653
Bos taurus AFDN VGNC VGNC:25709
Others AFDN NCBI