1. Gene
  2. CLDN16 - claudin 16 Gene

CLDN16 - claudin 16 Gene

中文名称:密蛋白 16

种属: Homo sapiens

同用名: HOMG3; PCLN1

基因 ID: 10686 | 基因类型: protein coding

关于 CLDN16

Cytogenetic location: 3q28 Genomic coordinates (GRCh38): 3:190,290,361-190,412,138 (from NCBI)

This gene has 3 transcripts (splice variants), 127 orthologues, 22 paralogues and is associated with 2 phenotypes. Biased expression in kidney (RPKM 20.4), thyroid (RPKM 4.2) and 1 other tissue.

功能概要

紧密连接代表上皮或内皮细胞片中细胞间粘附的一种模式,在细胞周围形成连续密封,并作为物理屏障防止溶质和水自由通过细胞旁空间。这些连接由面向外的细胞质小叶中的多组连续网络链组成,在面向内的胞质外小叶中具有互补的凹槽。由该基因编码的蛋白质是密蛋白家族的一员,是一种完整的膜蛋白,是紧密连接链的一个组成部分。它主要存在于肾脏中,特别是在厚的 Henle 升肢中,在那里它作为细胞间孔或离子浓度传感器来调节镁离子的细胞旁吸收。该基因的缺陷是原发性低镁血症的一个原因,其特征是大量肾镁消耗伴有低镁血症和高钙尿症,导致肾钙质沉着症和肾功能衰竭。该基因和 CLDN1 基因聚集在染色体 3q28 上。[RefSeq 提供,2010 年 6 月]

Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. These junctions are comprised of sets of continuous networking strands in the outwardly facing cytoplasmic leaflet, with complementary grooves in the inwardly facing extracytoplasmic leaflet. The protein encoded by this gene, a member of the Claudin family, is an integral membrane protein and a component of tight junction strands. It is found primarily in the kidneys, specifically in the thick ascending limb of Henle, where it acts as either an intercellular pore or ion concentration sensor to regulate the paracellular resorption of magnesium ions. Defects in this gene are a cause of primary hypomagnesemia, which is characterized by massive renal magnesium wasting with hypomagnesemia and hypercalciuria, resulting in nephrocalcinosis and renal failure. This gene and the CLDN1 gene are clustered on chromosome 3q28. [provided by RefSeq, Jun 2010]

CLDN16 基因产物(3)

mRNA Protein Name
NM_001378492.1 NP_001365421.1 claudin-16
NM_001378493.1 NP_001365422.1 claudin-16
NM_006580.4 NP_006571.2 claudin-16
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 PDZ domain binding IDA
IDA: 通过直接分析推断
14628289 GOA
enables identical protein binding IDA
IDA: 通过直接分析推断
28028216 GOA
enables paracellular tight junction channel activity IDA
IDA: 通过直接分析推断
16234325 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14628289 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in paracellular transport IDA
IDA: 通过直接分析推断
16234325 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in tight junction IDA
IDA: 通过直接分析推断
14628289 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

CLDN16 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (80 - 252)

  • 0
  • 100
  • 200
  • 305 a.a.
蛋白主名 其他名称

claudin-16

hypomagnesemia 3, with hypercalciuria and nephrocalcinosis

CLDN16 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
种属间
CLDN16 Q9Y5I7 Cldn14 Mus musculus Q9Z0S3 22373575
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
Hypomagnesemia 3, Renal

HOMG3

Renal Hypomagnesemia 3

Fhhnc Without Severe Ocular Involvement

Renal Hypomagnesemia Type 3

Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium

Hypomagnesemia, Isolated Renal

Hypomagnesemia, Familial, With Hypercalciuria And Nephrocalcinosis

Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

Isolated Renal Hypomagnesemia

Primary Hypomagnesemia Due To Defect In Renal Tubular Transport Of Magnesium

Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement

Hypomagnesemia 3

Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis

Fhhnc

Hhn

Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis

Hypomagnesemia, Type 3, Renal

Primary Hypomagnesemia

Primary Hypomagnesemia

Familial Primary Hypomagnesemia

Homg

Primary Familial Hypomagnesemia

Genetic Primary Hypomagnesemia

Hypomagnesemia 1, Intestinal

Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis

Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome

Nisch Syndrome

ILVASC

Ichthyosis-Sclerosing Cholangitis Syndrome

Ihsc

Ichthyosis-Hypotrichosis-Sclerosing Cholangitis Syndrome

Ichthyosis-Sclerosing Cholangitis Neonatal Syndrome

NISCH

Ichthyosis With Leukocyte Vacuoles, Alopecia And Sclerosing Cholangitis

Nephrocalcinosis

Hypercalcemic Nephropathy

Hypomagnesemia 5, Renal, With Or Without Ocular Involvement

Fhhnc With Severe Ocular Involvement

Renal Hypomagnesemia 5 With Ocular Involvement

Meier Blumberg Imahorn Syndrome

HOMG5

Hypomagnesemia, Renal, With Ocular Involvement

Hypomagnesemia 5, Renal, With Ocular Involvement

Familial Hypomagnesemia With Hypercalciuria, Nephrocalcinosis And Severe Ocular Involvement

Hypercalciuria-Bilateral Macular Coloboma Syndrome

Meier-Blumberg-Imahorn Syndrome

Hypomagnesemia, Familial, With Hypercalciuria, Nephrocalcinosis, And Severe Ocular Involvement

Macular Coloboma, Bilateral, With Hypercalciuria

Bilateral Macular Coloboma With Hypercalciuria

Idiopathic Hypercalciuria With Bilateral Macular Colobomata

Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement

Hypomagnesemia 5

Hypomagnesemia 5 Renal With Ocular Involvement

Hypomagnesemia Renal With Ocular Involvement

Macular Coloboma Bilateral With Hypercalciuria

Hypomagnesemia, Type 5, Renal, With Ocular Involvement

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Hypomagnesemia 2, Renal

Renal Hypomagnesemia 2

HOMG2

Magnesium Wasting, Renal

Autosomal Dominant Primary Hypomagnesemia With Hypocalciuria

Magnesium Loss, Isolated Renal

Isolated Autosomal Dominant Hypomagnesemia

Isolated Renal Magnesium Wasting

Renal Hypomagnesemia Type 2

Hypomagnesemia 2

Dominant Renal Hypomagnesemia

Hypomagnesemia With Hypocalciuria

Isolated Renal Magnesium Loss

Renal Magnesium Wasting

Hypomagnesemia-2, Renal

Renal Hypomagnesemia, Dominant

Hypomagnesemia, Type 2, Renal

Hypercalciuria, Absorptive, 2

HCA2

Hypercalciuria, Absorptive, Susceptibility To

Hypercalciuria, Absorptive

Familial Idiopathic Hypercalciuria

Hypercalciuria, Familial Idiopathic

Hypercalciuria Absorptive 2

Hypercalciuria Familial Idiopathic

Hypercalciuria, Absorptive, Type 2

Hypercalciuria

Hypocalcemia, Autosomal Dominant 1

Autosomal Dominant Hypocalcemia

Autosomal Dominant Hypocalcemia 1

HYPOC1

Hypocalcemia, Autosomal Dominant

Hypercalciuric Hypocalcemia

Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

Familial Hypocalcemia

Hypocalcemia, Familial

Hypoc

Adh

Autosomal Dominant Hypoparathyroidism

Familial Hypercalciuric Hypocalcemia

Ad Hypocalcemia

Autosomal Dominant Hypocalcemia With Bartter Syndrome

Hypoparathyroidism - Autosomal Dominant

Hypocalcemia

Hypomagnesemia 1, Intestinal

Intestinal Hypomagnesemia 1

HOMG1

Hypomagnesemia With Secondary Hypocalcemia

Hsh

Hypomagnesemic Tetany

Intestinal Hypomagnesemia With Secondary Hypocalcemia

Homg

Hypomagnesemia Caused By Selective Magnesium Malabsorption

Hypomagnesemia Intestinal Type 1

Primary Hypomagnesemia With Secondary Hypocalcemia

Phsh

Hypomagnesemia, Intestinal, With Secondary Hypocalcemia

Familial Primary Hypomagnesemia With Hypocalcuria

Hypomagnesemia 1

Hypomagnesmic Tetany

Deafness, Autosomal Recessive 29

DFNB29

Autosomal Recessive Nonsyndromic Deafness 29

Autosomal Recessive Deafness 29

Deafness, Autosomal Recessive, 29

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29

Deafness, Autosomal Recessive, Type 29

Bartter Syndrome, Type 1, Antenatal

Hyperprostaglandin E Syndrome 1

Bartter Disease Type 1

BARTS1

Bartter Syndrome, Type 1

Bartter Syndrome Type 1

Hypokalemic Alkalosis With Hypercalciuria Antenatal 1

Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal

Bartter Syndrome Type 1 Antenatal

Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal

Bartter Syndrome Antenatal Type 1

Antenatal Bartter Syndrome Type 1

Bartter Syndrome Type I

Bartter Syndrome 1, Antenatal

Abs1

Antenatal Bartter Syndrome 1

Bs1

Bartter Syndrome, Antenatal Type 1

Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis

Bartter Syndrome, Type 3

Bartter Disease Type 3

BARTS3

Bartter Syndrome Type 3

Bartter Syndrome, Classic

Classic Bartter Syndrome

Bartter Syndrome Classic

Bartter Syndrome Type Iii

Bartter Syndrome 3

Bartter Disease

Bartter Syndrome

Bartter'S Syndrome

Aldosteronism With Hyperplasia Of The Adrenal Cortex

Hypokalemic Alkalosis With Hypercalciuria

Potassium Wasting

Juxtaglomerular Hyperplasia With Secondary Aldosteronism

Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria

Salt-Losing Tubular Disorder, Henle'S Loop Type

Salt-Wasting Tubulopathy, Henle'S Loop Type

Bartters Syndrome

Deafness, Autosomal Dominant 44

DFNA44

Autosomal Dominant Nonsyndromic Deafness 44

Autosomal Dominant Deafness 44

Deafness, Autosomal Dominant, 44

Deafness, Autosomal Dominant, Type 44

Gitelman Syndrome

Familial Hypokalemia-Hypomagnesemia

Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria

Potassium And Magnesium Depletion

GTLMNS

Gitelman'S Syndrome

Gs

Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria

Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria

Bartter Syndrome Gitelman Variant

Bartter Syndrome Hypocalciuric Variant

Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria

Chronic Kidney Disease

Chronic Renal Disease

Chronic Kidney Failure

Ckd

Chronic Renal Failure

Kidney Failure, Chronic

Chronic Renal Failure Syndrome

Crf

Renal Failure - Chronic

Renal Failure Chronic

Chronic Kidney Diseases

Chronic Kidney Disease Stage 5

Ckd - [Chronic Kidney Disease]

Crf - [Chronic Renal Failure]

Chronic Kidney Impairment

Chronic Renal Impairment

Chronic Kidney Shutdown

Chronic Hypoxic Kidney Failure

Chronic Kidney Collapse

Chronic Renal Insufficiency

Chronic Kidney Toxaemia

Chronic Kidney Hypofunction

Chronic Renal Suppression

Chronic Renal Failure, Stage 5

Ckd - [Chronic Kidney Disease] Stage 5

End Stage Kidney Failure

End Stage Renal Failure

End Stage Kidney Disease

End Stage Renal Disease

End Stage Chronic Renal Failure

Esrf - [End Stage Renal Failure]

Esrd - [End Stage Renal Diseases]

Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

Familial Hypocalciuric Hypercalcemia

Familial Benign Hypercalcemia

Fbh

Fbhh

Fhh

Familial Benign Hypocalciuric Hypercalcemia

Hypocalciuric Hypercalcemia, Familial, Type 1

Renal Tubular Acidosis

Acidosis Renal Tubular

Acidosis, Renal Tubular

Lightwood-Albright Syndrome

Lightwood Syndrome

Idiopathic Infantile Hypercalcemia - Mild Form

Kidney Tubular Acidosis

Renal Tubule Acidosis

Kidney Acidosis

Renal Acidosis

Renal Hyperchloremic Acidosis

Rta - [Renal Tubular Acidosis]

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets

X-Linked Recessive Hypophosphatemic Rickets

XLRHR

Hypophosphatemic Rickets Disorders

Rickets Hypophosphatemic

Rickets, Hypophosphatemic, X-Linked Recessive

Familial Hypophosphatemic Rickets

Cystinuria

CSNU

Cystinuria Type B

Cystinuria Type A

Cystinuria, Type I, Formerly

Csnu1, Formerly

Cystinuria, Type Ii, Formerly

Cystinuria, Type Iii, Formerly

Csnu3, Formerly

Cystinuria, Type Non-I, Formerly

Cystinuria-Lysinuria

Cystinuria-Lysinuria Syndrome

Csnu1

Csnu3

Cystinuria 1

Cystinuria Type A/B

Cystinuria Type I

Cystinuria Type Ii

Cystinuria Type Iii

Cystinuria Type Non-I

Cystinuria, Type A/B

Cystinuria Type 1

Cystinuria - Lysinuria

Csnu - [Cystinuria]

Cystine 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
Felis catus CLDN16 VGNC VGNC:60931
Canis familiaris CLDN16 VGNC VGNC:39312
Macaca mulatta CLDN16 VGNC VGNC:71246
Mus musculus CLDN16 MGD MGI:2148742
Bos taurus CLDN16 VGNC VGNC:27406
Rattus norvegicus CLDN16 RGD RGD:620322