AFDN - afadin, adherens junction formation factor Gene

Homo sapiens

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

Gene ID: 4301 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

FHA

DIL

PDZ

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00427	AFDN Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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