AFDN (afadin, adherens junction formation factor)

Gene

• Entrez ID: 4301
• Gene name: Afadin, adherens junction formation factor
• Gene symbol: AFDN
• Synonyms (NCBI Gene): AF6, MLL-AF6, MLLT4, l-afadin
• Chromosome: 6
• Chromosome location: 6q27
• 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 wit

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17491594, 19461049, 22891260, 23750010, 23885123, 27815408, 30463011, 39232006
GO:0005515	Function	Protein binding	TAS	10856295
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005911	Component	Cell-cell junction	IDA	19461049
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	TAS	10856295
GO:0005912	Component	Adherens junction	IBA
GO:0005912	Component	Adherens junction	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	10856295
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	8242616
GO:0007267	Process	Cell-cell signaling	TAS	8242616
GO:0010628	Process	Positive regulation of gene expression	IMP	25893857
GO:0016607	Component	Nuclear speck	IDA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IMP	25893857
GO:0030054	Component	Cell junction	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0030336	Process	Negative regulation of cell migration	IMP	16882694, 21478912
GO:0031267	Function	Small GTPase binding	IPI	23885123
GO:0032880	Process	Regulation of protein localization	IBA
GO:0034330	Process	Cell junction organization	IEA
GO:0044291	Component	Cell-cell contact zone	IDA	16882694
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	ISS	23990464
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0046930	Component	Pore complex	IMP	30463011
GO:0046931	Process	Pore complex assembly	IMP	30463011
GO:0050839	Function	Cell adhesion molecule binding	IBA
GO:0051015	Function	Actin filament binding	IDA	16882694
GO:0061951	Process	Establishment of protein localization to plasma membrane	ISS	23990464
GO:0070160	Component	Tight junction	IDA	27815408
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IMP	27815408
GO:0090557	Process	Establishment of endothelial intestinal barrier	IMP	23885123
GO:2000049	Process	Positive regulation of cell-cell adhesion mediated by cadherin	IMP	16882694

Other IDs

• MIM: 159559
• HGNC: 7137
• e!Ensembl: ENSG00000130396

Protein

• UniProt ID: P55196
• Protein name: Afadin (ALL1-fused gene from chromosome 6 protein) (Protein AF-6) (Afadin adherens junction formation factor)
• Protein 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-filamen
• PDB: 1T2M, 1XZ9, 2AIN, 2EXG, 5A6C, 7QCR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00788	RA	39 → 133	Ras association (RalGDS/AF-6) domain	Domain
  PF00788	RA	246 → 348	Ras association (RalGDS/AF-6) domain	Domain
  PF00498	FHA	426 → 492	FHA domain	Family
  PF01843	DIL	785 → 889	DIL domain	Family
  PF00595	PDZ	1008 → 1090	PDZ domain	Domain

• Sequence:

  MSAGGRDEERRKLADIIHHWNANRLDLFEISQPTEDLEFHGVMRFYFQDKAAGNFATKCI
  RVSSTATTQDVIETLAEKFRPDMRMLSSPKYSLYEVHVSGERRLDIDEKPLVVQLNWNKD
  DREGRFVLKNENDAIPPKKAQSNGPEKQEKEGVIQNFKRTLSKKEKKEKKKREKEALRQA
  SDKDDRPFQGEDVENSRLAAEVYKDMPETSFTRTISNPEVVMKRRRQQKLEKRMQEFRSS
  DGRPDSGGTLRIYADSLKPNIPYKTILLSTTDPADFAVAEALEKYGLEKENPKDYCIARV
  MLPPGAQHSDEKGAKEIILDDDECPLQIFREWPSDKGILVFQLKRRPPDHIPKKTKKHLE
  GKTPKGKERADGSGYGSTLPPEKLPYLVELSPGRRNHFAYYNYHTYEDGSDSRDKPKLYR
  LQLSVTEVGTEKLDDNSIQLFGPGIQPHHCDLTNMDGVVTVTPRSMDAETYVEGQRISET
  TMLQSGMKVQFGASHVFKFVDPSQDHALAKRSVDGGLMVKGPRHKPGIVQETTFDLGGDI
  HSGTALPTSKSTTRLDSDRVSSASSTAERGMVKPMIRVEQQPDYRRQESRTQDASGPELI
  LPASIEFRESSEDSFLSAIINYTNSSTVHFKLSPTYVLYMACRYVLSNQYRPDISPTERT
  HKVIAVVNKMVSMMEGVIQKQKNIAGALAFWMANASELLNFIKQDRDLSRITLDAQDVLA
  HLVQMAFKYLVHCLQSELNNYMPAFLDDPEENSLQRPKIDDVLHTLTGAMSLLRRCRVNA
  ALTIQLFSQLFHFINMWLFNRLVTDPDSGLCSHYWGAIIRQQLGHIEAWAEKQGLELAAD
  CHLSRIVQATTLLTMDKYAPDDIPNINSTCFKLNSLQLQALLQNYHCAPDEPFIPTDLIE
  NVVTVAENTADELARSDGREVQLEEDPDLQLPFLLPEDGYSCDVVRNIPNGLQEFLDPLC
  QRGFCRLIPHTRSPGTWTIYFEGADYESHLLRENTELAQPLRKEPEIITVTLKKQNGMGL
  SIVAAKGAGQDKLGIYVKSVVKGGAADVDGRLAAGDQLLSVDGRSLVGLSQERAAELMTR
  TSSVVTLEVAKQGAIYHGLATLLNQPSPMMQRISDRRGSGKPRPKSEGFELYNNSTQNGS
  PESPQLPWAEYSEPKKLPGDDRLMKNRADHRSSPNVANQPPSPGGKSAYASGTTAKITSV
  STGNLCTEEQTPPPRPEAYPIPTQTYTREYFTFPASKSQDRMAPPQNQWPNYEEKPHMHT
  DSNHSSIAIQRVTRSQEELREDKAYQLERHRIEAAMDRKSDSDMWINQSSSLDSSTSSQE
  HLNHSSKSVTPASTLTKSGPGRWKTPAAIPATPVAVSQPIRTDLPPPPPPPPVHYAGDFD
  GMSMDLPLPPPPSANQIGLPSAQVAAAERRKREEHQRWYEKEKARLEEERERKRREQERK
  LGQMRTQSLNPAPFSPLTAQQMKPEKPSTLQRPQETVIRELQPQQQPRTIERRDLQYITV
  SKEELSSGDSLSPDPWKRDAKEKLEKQQQMHIVDMLSKEIQELQSKPDRSAEESDRLRKL
  MLEWQFQKRLQESKQKDEDDEEEEDDDVDTMLIMQRLEAERRARLQDEERRRQQQLEEMR
  KREAEDRARQEEERRRQEEERTKRDAEEKRRQEEGYYSRLEAERRRQHDEAARRLLEPEA
  PGLCRPPLPRDYEPPSPSPAPGAPPPPPQRNASYLKTQVLSPDSLFTAKFVAYNEEEEEE
  DCSLAGPNSYPGSTGAAVGAHDACRDAKEKRSKSQDADSPGSSGAPENLTFKERQRLFSQ
  GQDVSNKVKASRKLTELENELNTK

• Sequence length: 1824

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	24695851		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	25879875		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16819513, 24269953, 30692208		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25879875, 30692208	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	25879875		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	8589040		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	24695851		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24373847		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24373847	Inhibit	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33084842	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28659552		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25879875		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	25879875	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	8589040		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	29434887		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30628650	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	29434887		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28659552		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	33084842	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32353040	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12124344, 15951289, 22927255, 27219024, 29062045, 8703846		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27219024, 29062045, 9679199	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	24695851	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16630339, 23091311, 24695851, 32931582, 34964255, 39823827, 9679199	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10886213, 11999359, 22553314, 24612538, 24695851, 25401297, 28540746, 29692408, 30203571, 8242616, 8703846		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	16086288		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	23393160	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30692208	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16819513, 24269953, 30692208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	25879875		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	8971159		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24269953, 28218910, 29159771, 30473688		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24373847		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16819513		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16819513		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35045690	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss	Emery-Dreifuss Muscular Dystrophy	BEFREE	29158164		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	24695851		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29084944	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10382971	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	23393160	Inhibit	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28848400		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	8703846		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28415559	Associate	★☆☆☆☆ Found in Text Mining only