1. Gene
  2. CLDN19 - claudin 19 Gene

CLDN19 - claudin 19 Gene

中文名称:密蛋白 19

种属: Homo sapiens

同用名: HOMG5

基因 ID: 149461 | 基因类型: protein coding

关于 CLDN19

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:42,733,093-42,740,236 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 22 paralogues and is associated with 3 phenotypes. Biased expression in kidney (RPKM 11.6) and placenta (RPKM 4.9).

功能概要

该基因的产物属于密蛋白家族。它通过钙非依赖性细胞粘附活性在细胞间隙的紧密连接特异性消除中起主要作用。该基因的缺陷是肾性低镁血症伴眼部受累 (HOMGO) 的原因。 HOMGO 是一种进行性肾脏疾病,其特征是原发性肾镁消耗伴低镁血症、高钙尿症和肾钙质沉着症,并伴有严重的眼部异常,如双侧脉络膜视网膜瘢痕、黄斑缺损、严重近视和眼球震颤。已经为该基因鉴定了编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2010 年 6 月]

The product of this gene belongs to the Claudin family. It plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Defects in this gene are the cause of hypomagnesemia renal with ocular involvement (HOMGO). HOMGO is a progressive renal disease characterized by primary renal magnesium wasting with hypomagnesemia, hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars, macular colobomata, significant myopia and nystagmus. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]

CLDN19 基因产物(3)

mRNA Protein Name
NM_001123395.2 NP_001116867.1 claudin-19 isoform b
NM_001185117.2 NP_001172046.1 claudin-19 isoform c
NM_148960.3 NP_683763.2 claudin-19 isoform a
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 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
18188451 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18188451 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin cytoskeleton organization IMP
IMP: 通过突变表型推断
27593915 GOA
involved in negative regulation of cell migration IMP
IMP: 通过突变表型推断
27593915 GOA
involved in negative regulation of cell population proliferation IMP
IMP: 通过突变表型推断
27593915 GOA
involved in negative regulation of gene expression IMP
IMP: 通过突变表型推断
27593915 GOA
involved in negative regulation of wound healing IMP
IMP: 通过突变表型推断
27593915 GOA
involved in paracellular transport IDA
IDA: 通过直接分析推断
18188451 GOA
involved in positive regulation of cell junction assembly IMP
IMP: 通过突变表型推断
27593915 GOA
involved in positive regulation of gene expression IMP
IMP: 通过突变表型推断
27593915 GOA
involved in positive regulation of protein phosphorylation IMP
IMP: 通过突变表型推断
27593915 GOA
involved in regulation of transepithelial transport IMP
IMP: 通过突变表型推断
27593915 GOA
involved in retinal pigment epithelium development IMP
IMP: 通过突变表型推断
30937396 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in apical junction complex IDA
IDA: 通过直接分析推断
16427635 GOA
located in apical junction complex IMP
IMP: 通过突变表型推断
27593915 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
16427635 GOA
located in bicellular tight junction IDA
IDA: 通过直接分析推断
16427635 GOA
located in perinuclear region of cytoplasm IMP
IMP: 通过突变表型推断
27593915 GOA
located in tight junction IDA
IDA: 通过直接分析推断
18188451 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

CLDN19 蛋白结构

PMP22_Claudin

PMP22_Claudin: PMP-22/EMP/MP20/Claudin family (5 - 181)

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

claudin-19

关联疾病

疾病名称 别名
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

Nephrocalcinosis

Hypercalcemic Nephropathy

Nephrolithiasis

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Primary Hypomagnesemia

Familial Primary Hypomagnesemia

Homg

Primary Familial Hypomagnesemia

Genetic Primary Hypomagnesemia

Hypomagnesemia 1, Intestinal

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

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

Nephrolithiasis, Uric Acid

Nephrolithiasis, Uric Acid, Susceptibility To

Uric Acid Urolithiasis

Uric Acid Nephrolithiasis

UAN

Acute Urate Nephropathy

Urolithiasis, Uric Acid

Urolithiasis, Uric Acid, Susceptibility To

Uric Acid Renal Calculus

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

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

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 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

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

Adenine Phosphoribosyltransferase Deficiency

Aprt Deficiency

2,8-Dihydroxyadenine Urolithiasis

APRTD

2,8-Dihydroxyadeninuria

Dihydroxyadeninuria

Urolithiasis, 2,8-Dihydroxyadenine

Urolithiasis, Dha

Nephrolithiasis, Dha

Dha Crystalline Nephropathy

Nephrolithiasis Dha

Urolithiasis Dha

Late-Onset Retinal Degeneration

LORD

Retinal Degeneration, Late-Onset, Autosomal Dominant

Autosomal Dominant Late-Onset Retinal Degeneration

Pigmentary Retinopathy

Retinal Degeneration, Late-Onset

Retinitis Pigmentosa

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

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
Mus musculus CLDN19 MGD MGI:3033992
Bos taurus CLDN19 VGNC VGNC:27409
Felis catus CLDN19 VGNC VGNC:80169
Canis familiaris CLDN19 VGNC VGNC:39315
Macaca mulatta CLDN19 VGNC VGNC:106342
Rattus norvegicus CLDN19 RGD RGD:1305000