2. Gene
  3. ANO6 - anoctamin 6 Gene

ANO6 - anoctamin 6 Gene

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

中文名称：茴香胺 6

种属: Homo sapiens

同用名: SCTS; BDPLT7; TMEM16F

基因 ID: 196527 | 基因类型: protein coding

关于 ANO6

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:45,216,095-45,440,404 (from NCBI)

This gene has 14 transcripts (splice variants), 199 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 53.4), ovary (RPKM 24.6) and 25 other tissues.

功能概要

该基因编码属于 anoctamin 家族的多次跨膜蛋白。这种蛋白质是细胞表面磷脂酰丝氨酸钙依赖性暴露的重要组成部分。磷脂的扰乱发生在各种生物系统中，例如当血小板被激活时，它们会暴露磷脂酰丝氨酸以触发凝血系统。该基因的突变与斯科特综合征有关。已发现该基因编码不同亚型的可变剪接转录本变体。[RefSeq 提供，2011 年 3 月]

This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

ANO6 基因产物(5)

mRNA Protein Name
NM_001025356.3 NP_001020527.2 anoctamin-6 isoform a
NM_001142678.2 NP_001136150.1 anoctamin-6 isoform b
NM_001142679.2 NP_001136151.1 anoctamin-6 isoform c
NM_001204803.2 NP_001191732.1 anoctamin-6 isoform d
NM_001410973.1 NP_001397902.1 anoctamin-6 isoform e

ANO6 蛋白结构

Anoctamin

Anoctamin: Calcium-activated chloride channel (287 - 872)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 910 a.a.
蛋白主名 其他名称

anoctamin-6

SCAN channel

关联疾病

疾病名称 别名
Scott Syndrome

SCTS

Bdplt7

Prothrombin Consumption Deficiency

Bleeding Abnormality Due To Deficiency Of Platelet Binding Of Factor X

Bleeding Disorder, Platelet-Type, 7

Prothrombin Conversion Defect, Familial

Prothrombin Consumption Inhibitor, Familial

Bleeding Abnormality Due To Deficiency Of Platelet Biding Of Factor X

Familial Prothrombin Consumption Inhibitor

Familial Prothrombin Conversion Defect

Platelet-Type Bleeding Disorder 7

Platelet Factor X Receptor Deficiency

Bleeding Disorder Platelet-Type 7

Prothrombin Consumption Inhibitor Familial

Prothrombin Conversion Defect Familial
Gnathodiaphyseal Dysplasia

GDD

Osteogenesis Imperfecta With Unusual Skeletal Lesions

Gnathodiaphyseal Sclerosis

Osteogenesis Imperfecta, Levin Type

Levin Syndrome 2

Dysplasia, Gnathodiaphyseal
Spinocerebellar Ataxia, Autosomal Recessive 10

SCAR10

Autosomal Recessive Spinocerebellar Ataxia 10

Adult-Onset Autosomal Recessive Cerebellar Ataxia

Autosomal Recessive Spinocerebellar Ataxia Type 10

Spinocerebellar Ataxia, Autosomal Recessive, 10

Ataxia, Spinocerebellar, Autosomal Recessive, Type 10
Miyoshi Muscular Dystrophy 3

MMD3

Miyoshi Myopathy 3

Distal Anoctaminopathy

Miyoshi Muscular Dystrophy Type 3

Dystrophy, Muscular, Miyoshi, Type 3
Bleeding Disorder, Platelet-Type, 11

BDPLT11

Glycoprotein Vi Deficiency

Gp Vi Deficiency

Platelet-Type Bleeding Disorder 11

Bleeding Diathesis Due To A Collagen Receptor Defect

Bleeding Diathesis Due To Glycoprotein Vi Deficiency

Platelet-Type Bleeding Disorder-11

Bleeding Disorder, Platelet Type 11

Hemorrhage
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l
Myopathy, Centronuclear, 2

Myopathy, Centronuclear, Autosomal Recessive

Autosomal Recessive Centronuclear Myopathy

CNM2

Centronuclear Myopathy 2

Ar-Cnm

Myotubular Myopathy, Autosomal Recessive

Autosomal Recessive Myotubular Myopathy

Centronuclear Myopathy Autosomal Recessive

Myopathy, Centronuclear, Type 2
Diamond-Blackfan Anemia 1

Aase Syndrome

DBA1

Erythrogenesis Imperfecta

Aase-Smith Syndrome Ii

Dba

Blackfan-Diamond Syndrome

Bds

Anemia, Congenital Hypoplastic, Of Blackfan And Diamond

Anemia, Congenital Erythroid Hypoplastic

Red Cell Aplasia, Pure, Hereditary

Aregenerative Anemia, Chronic Congenital

Rps19-Related Diamond-Blackfan Anemia

Chronic Congenital Aregenerative Anemia

Congenital Erythroid Hypoplastic Anemia

Congenital Hypoplastic Anemia Of Blackfan And Diamond

Pure Hereditary Red Cell Aplasia

Anemia, Diamond-Blackfan, Type 1

Anemia, Diamond-Blackfan

Aase Smith Syndrome 2

Familial Hypoplastic Anaemia With Malformations

Constitutional Pure Red Cell Aplasia
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-RS00746 ANO6 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus ANO6 VGNC VGNC:59831
Bos taurus ANO6 VGNC VGNC:25955
Macaca mulatta ANO6 VGNC VGNC:69902
Rattus norvegicus ANO6 RGD RGD:1304765
Mus musculus ANO6 MGD MGI:2145890
Canis familiaris ANO6 VGNC VGNC:37929
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