2. Gene
  3. AP2S1 - adaptor related protein complex 2 subunit sigma 1 Gene

AP2S1 - adaptor related protein complex 2 subunit sigma 1 Gene

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

中文名称：适配器相关蛋白复合物 2 亚基西格玛 1

种属: Homo sapiens

同用名: AP17; FBH3; HHC3; FBHOk; CLAPS2

基因 ID: 1175 | 基因类型: protein coding

关于 AP2S1

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:46,838,167-46,850,846 (from NCBI)

This gene has 10 transcripts (splice variants), 205 orthologues, 6 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 25.3), brain (RPKM 23.2) and 25 other tissues.

功能概要

两个主要的网格蛋白相关接头复合物之一 AP-2 是与质膜相关的异四聚体。这个复合体由两条大链、一条中链和一条小链组成。该基因编码该复合物的小链。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

One of two major clathrin-associated adaptor complexes, AP-2, is a heterotetramer which is associated with the plasma membrane. This complex is composed of two large chains, a medium chain, and a small chain. This gene encodes the small chain of this complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

AP2S1 基因产物(5)

mRNA Protein Name
NM_001301076.3 NP_001288005.1 AP-2 complex subunit sigma isoform 3
NM_001301078.3 NP_001288007.1 AP-2 complex subunit sigma isoform 4
NM_001301081.3 NP_001288010.1 AP-2 complex subunit sigma isoform 5
NM_004069.6 NP_004060.2 AP-2 complex subunit sigma isoform AP17
NM_021575.5 NP_067586.1 AP-2 complex subunit sigma isoform AP17delta

AP2S1 蛋白结构

Clat_adaptor_s

Clat_adaptor_s: Clathrin adaptor complex small chain (1 - 141)

  • 0
  • 100
  • 142 a.a.
蛋白主名 其他名称

AP-2 complex subunit sigma

HA2 17 kDa subunit

关联疾病

疾病名称 别名
Hypocalciuric Hypercalcemia, Familial, Type Iii

HHC3

Familial Hypocalciuric Hypercalcemia 3

Fbh3

Familial Hypocalciuric Hypercalcemia Type 3

Hypercalcemia, Familial Benign, Oklahoma Type

Hypocalciuric Hypercalcemia, Type Iii

Fhh Type 3

Hypocalciuric Hypercalcemia Type Iii

Familial Benign Hypercalcemia, Type Iii

Hypercalcemia, Familial Benign, Type Iii

Fbhok

Familial Benign Hypercalcemia, Oklahoma Variant

Familial Benign Hypercalcemia, Type 3

Hypercalcemia, Familial Benign, Type 3

Hypocalciuric Hypercalcemia, Familial, Type 3

Hypocalciuric Hypercalcemia, Familial 3

Familial Benign Hypercalcemia 3

Familial Benign Hypercalcemia Oklahoma Type

Familial Benign Hypocalciuric Hypercalcemia 3

Fbhh3

Fhh3
Hypocalciuric Hypercalcemia, Familial, Type I

HHC1

Familial Hypocalciuric Hypercalcemia 1

Fhh1

Familial Benign Hypercalcemia 1

Fbh1

Hypocalciuric Hypercalcemia, Type I

Fhh Type 1

Hhc

Fhh

Hypercalcemia, Familial Benign

Hypocalciuric Hypercalcemia Type I

Familial Hypocalciuric Hypercalcemia Type 1

Hypocalciuric Hypercalcemia, Familial, Type 1

Familial Hypocalciuric Hypercalcemia Type I

Familial Benign Hypercalcemia Type 1

Hypercalcemia, Familial Benign Type 1

Hypocalciuric Hypercalcemia, Familial 1

Familial Benign Hypocalciuric Hypercalcemia 1

Fbhh1
Hypocalciuric Hypercalcemia, Familial, Type Ii

HHC2

Familial Hypocalciuric Hypercalcemia 2

Fbh2

Familial Hypocalciuric Hypercalcemia Type 2

Hypocalciuric Hypercalcemia, Type Ii

Fhh Type 2

Familial Benign Hypercalcemia, Type Ii

Hypercalcemia, Familial Benign, Type Ii

Hypocalciuric Hypercalcemia Type Ii

Familial Benign Hypercalcemia, Type 2

Hypercalcemia, Familial Benign Type 2

Hypocalciuric Hypercalcemia, Familial, Type 2

Hypocalciuric Hypercalcemia, Familial 2

Familial Benign Hypercalcemia Type Ii

Hypocalciuric Hypercalcemia-2
Familial Hypocalciuric Hypercalcemia

Familial Benign Hypercalcemia

Fbh

Fbhh

Fhh

Familial Benign Hypocalciuric Hypercalcemia

Hypocalciuric Hypercalcemia, Familial, Type 1
Chondrocalcinosis

Pseudogout

Calcium Pyrophosphate Deposition Disease

Familial Chondrocalcinosis

Chondrocalcinosis Nos

Cppd - [Calcium Pyrophosphate Deposition Disease]

Cpdd - [Calcium Pyrophosphate Deposition Disease]

Chondrocalcinosis, Due To Pyrophosphate Crystals, Involving Unspecified Site

Chondrocalcinosis, Cause Unspecified

Chondrocalcinosis Due To Pyrophosphate Crystals

Chondrocalcinosis Articularis

Calcium Pyrophosphate Arthritis And Periarthritis
Hypoparathyroidism

Hypoparathyroidism, Idiopathic

Parathyroid, Underactivity Of

Syndrome With Hypoparathyroidism

Deficiency Of Parathyroid Hormone

Parathyroid Gland Insufficiency

Parathyroid Insufficiency

Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
Osteitis Fibrosa

Osteitis Fibrosa Cystica

Hyperparathyroid Bone Disease

Osteitis Fibrosa Cystica Generalisata

Von Recklinghausen'S Bone Disease

Osteitis Fibrosa Disseminata
Multiple Endocrine Neoplasia, Type Iv

Multiple Endocrine Neoplasia Type 4

MEN4

Multiple Endocrine Neoplasia 4

Neoplasia, Endocrine, Multiple, Type Iv
Parathyroid Gland Disease

Parathyroid Diseases

Disease Of Parathyroid Glands

Parathyroid Disease
Parathyroid Adenoma

Adenoma Of Parathyroid

Adenoma Of The Parathyroid Gland

Parathyroid Gland Adenoma
Familial Isolated Hypoparathyroidism

Fih
Primary Hyperparathyroidism

Familial Primary Hyperparathyroidism

Hyperparathyroidism, Primary

Hyperparathyroidism Primary

Hypocalciuric Hypercalcemia, Familial, Type 1

Familial Benign Hypercalcemia

Familial Hyperparathyroidism

Parathyroid Enlargement
Mineral Metabolism Disease

Mineral Metabolism Disorder

Disorder Of Mineral Metabolism
Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1

MEN1

Wermer Syndrome

Multiple Endocrine Neoplasia 1

Multiple Endocrine Neoplasia, Type 1

Men I

Endocrine Adenomatosis, Multiple

Mea I

Men Type I

Wermer'S Syndrome

Men1 Syndrome

Multiple Endocrine Adenomatosis

Endocrine Adenomatosis Multiple

Men 1

Familial Multiple Endocrine Neoplasia Type I

Neoplasia, Endocrine, Multiple, Type 1

Multiple Endocrine Neoplasia
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-RS00788 AP2S1 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus AP2S1 VGNC VGNC:97353
Mus musculus AP2S1 MGD MGI:2141861
Canis familiaris AP2S1 VGNC VGNC:37962
Macaca mulatta AP2S1 VGNC VGNC:69966
Rattus norvegicus AP2S1 RGD RGD:620188
Bos taurus AP2S1 VGNC VGNC:25986
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