1. Gene
  2. TPCN2 - two pore segment channel 2 Gene

TPCN2 - two pore segment channel 2 Gene

中文名称:两孔段通道 2

种属: Homo sapiens

同用名: TPC2; SHEP10

基因 ID: 219931 | 基因类型: protein coding

关于 TPCN2

Cytogenetic location: 11q13.3 Genomic coordinates (GRCh38): 11:69,048,932-69,090,597 (from NCBI)

This gene has 8 transcripts (splice variants), 206 orthologues, 26 paralogues and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 3.4), endometrium (RPKM 3.2) and 25 other tissues.

功能概要

该基因编码一个推定的阳离子选择性离子通道,具有两个重复的六跨膜结构域。该蛋白质定位于溶酶体膜并使烟酸腺嘌呤二核苷酸磷酸 (NAADP) 诱导钙离子从溶酶体相关储存中释放。这种普遍表达的基因在肝脏和肾脏中的表达升高。该基因中的两个常见非同义 SNP 与金色和棕色头发色素沉着密切相关。[RefSeq 提供,2009 年 12 月]

This gene encodes a putative cation-selective ion channel with two repeats of a six-transmembrane-domain. The protein localizes to lysosomal membranes and enables nicotinic acid adenine dinucleotide phosphate (NAADP) -induced calcium ion release from lysosome-related stores. This ubiquitously expressed gene has elevated expression in liver and kidney. Two common nonsynonymous SNPs in this gene strongly associate with blond versus brown hair pigmentation.[provided by RefSeq, Dec 2009]

TPCN2 基因产物(1)

mRNA Protein Name
NM_139075.4 NP_620714.2 two pore channel protein 2
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
NOT enables NAADP-sensitive calcium-release channel activity IDA
IDA: 通过直接分析推断
23063126 GOA
enables NAADP-sensitive calcium-release channel activity IDA
IDA: 通过直接分析推断
19387438 GOA
enables calcium channel activity IDA
IDA: 通过直接分析推断
27140606 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
30860481 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
21903581 GOA
enables intracellularly phosphatidylinositol-3,5-bisphosphate-gated monatomic cation channel activity IDA
IDA: 通过直接分析推断
23063126 GOA
enables ligand-gated sodium channel activity IDA
IDA: 通过直接分析推断
23063126 GOA
enables phosphatidylinositol-3,5-bisphosphate binding IDA
IDA: 通过直接分析推断
23063126 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21903581 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
22012985 GOA
NOT enables voltage-gated calcium channel activity IDA
IDA: 通过直接分析推断
23063126 GOA
NOT enables voltage-gated sodium channel activity IDA
IDA: 通过直接分析推断
24776928 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium-mediated signaling IGI
IGI: 通过遗传相互作用推断
25416817 GOA
involved in endocytosis involved in viral entry into host cell IMP
IMP: 通过突变表型推断
25722412 GOA
involved in intracellular calcium ion homeostasis IDA
IDA: 通过直接分析推断
19387438 GOA
involved in intracellular pH reduction IDA
IDA: 通过直接分析推断
27140606 GOA
involved in lysosome organization IGI
IGI: 通过遗传相互作用推断
25416817 GOA
involved in negative regulation of developmental pigmentation IDA
IDA: 通过直接分析推断
27140606 GOA
involved in receptor-mediated endocytosis of virus by host cell IDA
IDA: 通过直接分析推断
32221306 GOA
involved in regulation of autophagy IGI
IGI: 通过遗传相互作用推断
22012985 GOA
involved in sodium ion transmembrane transport IDA
IDA: 通过直接分析推断
30860481 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endolysosome membrane IDA
IDA: 通过直接分析推断
32167471 GOA
located in endosome membrane IDA
IDA: 通过直接分析推断
19620632 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
19387438 GOA
located in lysosome IDA
IDA: 通过直接分析推断
22012985 GOA
located in melanosome membrane IDA
IDA: 通过直接分析推断
27140606 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

TPCN2 蛋白结构

Ion_trans

Ion_trans: Ion transport protein (128 - 311)

Ion_trans

Ion_trans: Ion transport protein (471 - 693)

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

two pore channel protein 2

two pore calcium channel protein 2

TPCN2 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
Intra TPCN2 Q8NHX9 HAX1 Homo sapiens O00165
Pull Down
24188827
Intra TPCN2 Q8NHX9 MTOR Homo sapiens P42345
Anti Tag CoIP
23394946
Intra TPCN2 Q8NHX9 TPCN1 Homo sapiens Q9ULQ1
Anti Tag CoIP
21903581
Intra TPCN2 Q8NHX9 TPCN1 Homo sapiens Q9ULQ1
Anti Bait CoIP
21903581
Intra TPCN2 Q8NHX9 TPCN1 Homo sapiens Q9ULQ1
FRET
21903581
Intra TPCN2 Q8NHX9 BMPR1A Homo sapiens P36894
Anti Tag CoIP
28514442
Intra TPCN2 Q8NHX9 B4GALT5 Homo sapiens O43286
Anti Tag CoIP
33961781
Intra TPCN2 Q8NHX9 ANKRD27 Homo sapiens Q96NW4
Anti Tag CoIP
33961781
Intra TPCN2 Q8NHX9 APPL1 Homo sapiens Q9UKG1
Anti Tag CoIP
33961781
Intra TPCN2 Q8NHX9 B4GALT5 Homo sapiens O43286
Anti Tag CoIP
28514442
Intra TPCN2 Q8NHX9 AP3B1 Homo sapiens O00203
Anti Tag CoIP
33961781
Intra TPCN2 Q8NHX9 ANKRD27 Homo sapiens Q96NW4
Anti Tag CoIP
28514442
Intra TPCN2 Q8NHX9 APPL1 Homo sapiens Q9UKG1
Anti Tag CoIP
28514442
Intra TPCN2 Q8NHX9 AP3B1 Homo sapiens O00203
Anti Tag CoIP
28514442
Intra TPCN2 Q8NHX9 BMPR1A Homo sapiens P36894
Anti Tag CoIP
33961781
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
Skin/Hair/Eye Pigmentation, Variation In, 10

SHEP10

Skin/Hair/Eye Pigmentation 10, Blond/Brown Hair

Pigmentation, Skin/Hair/Eye, Variation In, Type 10

Mucolipidosis Iv

Mucolipidosis Type Iv

ML4

Sialolipidosis

Mucolipidosis Type 4

Ganglioside Sialidase Deficiency

Mliv

Ml Iv

Berman Syndrome

Ganglioside Neuraminidase Deficiency

Ml 4

Mucolipidosis 4

Type Iv Mucolipidosis

Gangliosidoses

Mucolipidosis
Deafness, Autosomal Recessive 63

DFNB63

Autosomal Recessive Nonsyndromic Deafness 63

Autosomal Recessive Deafness 63

Deafness, Autosomal Recessive, 63

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 63

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 63

Deafness, Autosomal Recessive, Type 63

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Yunis Varon Syndrome

YVS

Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome

Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia

Yunis-Varón Syndrome

Ebola Hemorrhagic Fever

Ebola Virus Disease

Viral Hemorrhagic Fever

Hemorrhagic Fever, Ebola

Ebola

Ehf

Ebola Fever

Hemorrhagic Fevers, Viral

Ebola Haemorrhagic Fever

Ebod - [Ebola Disease]

Evd - [Ebola Virus Disease]

Ebola Virus Haemorrhagic Fever

Vhf - [Viral Haemorrhagic Fever] Nos

Viral Haemorrhagic Fever, Not Otherwise Specified

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis

Niemann-Pick Diseases

Lipoid Histiocytosis

Sphingomyelin Lipidosis

Sphingomyelinase Deficiency Disease

Lipid Histiocytosis

Neuronal Cholesterol Lipidosis

Neuronal Lipidosis

Npd

Sphingomyelinase Deficiency

Niemann-Pick Disease, Type A

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus TPCN2 RGD RGD:1311779
Macaca mulatta TPCN2 VGNC VGNC:79288
Bos taurus TPCN2 VGNC VGNC:36244
Canis familiaris TPCN2 VGNC VGNC:47733
Felis catus TPCN2 VGNC VGNC:66470
Mus musculus TPCN2 MGD MGI:2385297