2. Gene
  3. TRPV6 - transient receptor potential cation channel subfamily V member 6 Gene

TRPV6 - transient receptor potential cation channel subfamily V member 6 Gene

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

中文名称：瞬时受体电位阳离子通道亚家族 V 成员 6

种属: Homo sapiens

同用名: CAT1; CATL; ZFAB; ECAC2; ABP/ZF; HRPTTN; LP6728; HSA277909

基因 ID: 55503 | 基因类型: protein coding

关于 TRPV6

Cytogenetic location: 7q34 Genomic coordinates (GRCh38): 7:142,871,208-142,885,745 (from NCBI)

This gene has 8 transcripts (splice variants), 1 gene allele, 241 orthologues, 5 paralogues and is associated with 3 phenotypes. Biased expression in prostate (RPKM 26.0), salivary gland (RPKM 21.3) and 9 other tissues.

功能概要

该基因编码多通道膜蛋白家族的一个成员，该蛋白起钙通道的作用。编码的蛋白质包含 N 末端锚蛋白重复序列，这是通道组装和调节所必需的。该蛋白质的翻译起始发生在非 AUG 起始密码子处，该密码子被解码为甲硫氨酸。该基因位于与瞬时受体电位阳离子通道亚家族 V 成员 5 (TRPV5) 密切相关的基因旁边。该基因座在非非洲人群中经历了正向选择，导致不同遗传背景的个体之间存在多个非同义密码子差异。[RefSeq 提供，2015 年 2 月]

This gene encodes a member of a family of multipass membrane proteins that functions as calcium channels. The encoded protein contains N-terminal ankyrin repeats, which are required for channel assembly and regulation. Translation initiation for this protein occurs at a non-AUG start codon that is decoded as methionine. This gene is situated next to a closely related gene for transient receptor potential cation channel subfamily V member 5 (TRPV5). This locus has experienced positive selection in non-African populations, resulting in several non-synonymous codon differences among individuals of different genetic backgrounds. [provided by RefSeq, Feb 2015]

TRPV6 基因产物(1)

mRNA Protein Name
NM_018646.6 NP_061116.5 transient receptor potential cation channel subfamily V member 6
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 calcium channel activity IDA
IDA: 通过直接分析推断
11097838 GOA
enables calmodulin binding IDA
IDA: 通过直接分析推断
11278579 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15894168 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion import across plasma membrane IDA
IDA: 通过直接分析推断
11097838 GOA
involved in calcium ion import across plasma membrane IMP
IMP: 通过突变表型推断
29861107 GOA
involved in calcium ion transmembrane transport IDA
IDA: 通过直接分析推断
11097838 GOA
involved in calcium ion transport IDA
IDA: 通过直接分析推断
23612980 GOA
involved in calcium ion transport IMP
IMP: 通过突变表型推断
29861107 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
11097838 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

TRPV6 蛋白结构

Ank_2

Ank_2: Ankyrin repeats (3 copies) (49 - 146)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (161 - 208)

Ion_trans

Ion_trans: Ion transport protein (408 - 578)

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

transient receptor potential cation channel subfamily V member 6

Alu-binding protein with zinc finger domain

TRPV6 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
TRPV6 Q9H1D0 PTPN1 Homo sapiens P18031
BiFC
17197020
种属内
TRPV6 Q9H1D0 PTPN1 Homo sapiens P18031
BiFC
15894168
种属内
TRPV6 Q9H1D0 PTPN1 Homo sapiens P18031
Anti Tag CoIP
17197020
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
Hyperparathyroidism, Transient Neonatal

HRPTTN
Hyperparathyroidism, Neonatal Severe

NSHPT

Neonatal Severe Primary Hyperparathyroidism

Nsph

Nhpt

Hyperparathyroidism, Neonatal

Hyperparathyroidism, Neonatal Severe Primary

Neonatal Severe Hyperparathyroidism

Hyperparathyroidism, Severe, Neonatal

Neonatal Hyperparathyroidism
Hyperparathyroidism

Hyperparathyroidism And Other Disorders Of Parathyroid Gland

Parathyroid Hyperfunction

Hpth - [Hyperparathyroidism]

Parathyroid Gland Hyperfunction

Parathyroid Glandular Hyperfunction
Bone Mineral Density Quantitative Trait Locus 15

Osteoporosis

BMND15

Osteoporosis, Susceptibility To

Metaphyseal Fracture

Metaphyseal Fracture, Susceptibility To

Compression Fracture

Compression Fracture, Susceptibility To

Metaphyseal Fractures

Fractures, Compression
Spondylometaphyseal Dysplasia, Kozlowski Type

Spondylometaphyseal Dysplasia Kozlowski Type

Jequier Kozlowski Skeletal Dysplasia

Smd Kozlowski Type

SMDK

Dysmorphism Arthrogryposis Skeletal Maturation Advanced

Jequier-Kozlowski Syndrome

Skeletal Dysplasia Jequier-Kozlowski Type

Smd, Kozlowski Type
Spondyloepiphyseal Dysplasia, Maroteaux Type

Spondyloepiphyseal Dysplasia Maroteaux Type

Pseudo-Morquio Syndrome Type 2

Sed, Maroteaux Type

Brachyolmia Type 2

Pseudo-Morquio Syndrome, Type 2

Spondyloepiphyseal Dysplasia Of Maroteaux

Brachyolmia Maroteaux Type

SEDM

Sed Maroteaux Type

Dysplasia, Spondyloepiphyseal, Maroteaux Type
Pseudohypoaldosteronism
Metatropic Dysplasia

Metatropic Dwarfism

MTD

Metatropic Dysplasia Type 1

Metatropic Dysplasia, Nonlethal Dominant
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer
Scapuloperoneal Spinal Muscular Atrophy

SPSMA

Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Neurogenic Scapuloperoneal Amyotrophy, New England Type

Scapuloperoneal Neuronopathy

Spinal Muscular Atrophy, Scapuloperoneal

Amyotrophy Neurogenic Scapuloperoneal New England Type

Muscular Atrophy, Spinal

Scapuloperoneal Form Of Spinal Muscular Atrophy
Hypervitaminosis D

Vitamin D Hyperalimentation
Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques

Olmsted Syndrome

Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques

Palmoplantar And Periorificial Keratoderma

Olms
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
Vitamin D-Dependent Rickets, Type 2a

Hvdrr

Generalized Resistance To 1,25-Dihydroxyvitamin D

Hypocalcemic Vitamin D-Resistant Rickets

VDDR2A

Rickets, Hereditary Vitamin D-Resistant

Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

Pddr Iia

Rickets-Alopecia Syndrome

Rickets, Vitamin D-Resistant, Type Iia

Vitamin D-Dependent Rickets Type 2a

Vitamin D-Dependent Rickets, Type 2

Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia

Generalized 1,25-Dihydroxyvitamin D

Pseudovitamin D-Deficiency, Type Iia

Hereditary Vitamin D-Resistant Rickets

Vddr Ii

Vdrr Ii

Vitamin D-Dependent Rickets Type Ii

Vitamin D-Resistant Rickets Type Ii

Rickets Vitamin D-Dependent 2a

Pseudovitamin D-Deficiency Type Iia

Rickets Hereditary Vitamin D-Resistant

Type Iia Rickets

Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia

Vitamin D-Dependent Rickets, Type Ii

Familial Hypophosphatemic Rickets

Hypophosphatemic Rickets, X-Linked Dominant
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

Clinical Phase
生物活性分子 (2)
目录号 产品名 作用方式
纯度 Phase
HY-P1651A SOR-C13 TFA Antagonist 99.18% Phase 1
HY-P1651 SOR-C13 Antagonist 98.56% Phase 1
Pre-clinical Phase
生物活性分子 (6)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-P1651B SOR-C13 acetate Antagonist 98.56% 否
HY-P10740 CBP-1018 / 否
HY-P10762 CBP-1008 Ligand / 否
HY-P4856 pTH-Related Protein (1-40) (human, mouse, rat) Activator / 否
HY-RS15126 TRPV6 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-157574 TRPV6-IN-1 Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris TRPV6 VGNC VGNC:47886
Rattus norvegicus TRPV6 RGD RGD:69335
Felis catus TRPV6 VGNC VGNC:66600
Mus musculus TRPV6 MGD MGI:1927259
Bos taurus TRPV6 VGNC VGNC:36402
Macaca mulatta TRPV6 VGNC VGNC:78942
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