2. Gene
  3. AFDN - afadin, adherens junction formation factor Gene

AFDN - afadin, adherens junction formation factor Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：afadin，粘附连接形成因子

种属: Homo sapiens

同用名: AF6; MLLT4; MLL-AF6; l-afadin

基因 ID: 4301 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种多域蛋白，参与胚胎发生过程中细胞连接的信号传导和组织。它还被确定为急性淋巴细胞白血病 (ALL-1) 基因的融合伴侣，参与具有 t (6;11) (q27;q23) 易位的急性髓性白血病。已经描述了该基因编码不同亚型的可变剪接转录本变体，但是，并非所有都已被完全表征。[RefSeq 提供，2011 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables actin filament binding IDA
IDA: 通过直接分析推断
16882694 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17491594 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
23885123 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in bicellular tight junction assembly IMP
IMP: 通过突变表型推断
27815408 GOA
involved in establishment of endothelial intestinal barrier IMP
IMP: 通过突变表型推断
23885123 GOA
involved in negative regulation of cell migration IMP
IMP: 通过突变表型推断
16882694 GOA
involved in pore complex assembly IMP
IMP: 通过突变表型推断
30463011 GOA
involved in positive regulation of cell-cell adhesion IMP
IMP: 通过突变表型推断
25893857 GOA
involved in positive regulation of cell-cell adhesion mediated by cadherin IMP
IMP: 通过突变表型推断
16882694 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
25893857 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell-cell contact zone IDA
IDA: 通过直接分析推断
16882694 GOA
located in cell-cell junction IDA
IDA: 通过直接分析推断
19461049 GOA
part of pore complex IMP
IMP: 通过突变表型推断
30463011 GOA
located in tight junction IDA
IDA: 通过直接分析推断
27815408 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

AFDN 蛋白结构

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.
蛋白主名 其他名称

afadin

ALL1-fused gene from chromosome 6 protein

AFDN 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
AFDN P55196 DBN1 Homo sapiens Q16643
Anti Bait CoIP
23750010
种属内
AFDN P55196 SRC Homo sapiens P12931
Anti Tag CoIP
17491594
种属内
AFDN P55196 SRC Homo sapiens P12931
Pull Down
17491594
种属内
AFDN P55196 SRC Homo sapiens P12931
Anti Bait CoIP
17491594
种属内
AFDN P55196 NECTIN2 Homo sapiens Q92692
Anti Bait CoIP
23750010
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00427 AFDN Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z