2. Gene
  3. CLDN14 - claudin 14 Gene

CLDN14 - claudin 14 Gene

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

中文名称：密蛋白 14

种属: Homo sapiens

同用名: DFNB29

基因 ID: 23562 | 基因类型: protein coding

关于 CLDN14

Cytogenetic location: 21q22.13 Genomic coordinates (GRCh38): 21:36,460,621-36,576,569 (from NCBI)

This gene has 5 transcripts (splice variants), 182 orthologues, 22 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 3.1) and kidney (RPKM 1.4).

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。编码的蛋白质还特异性结合 Yes 相关蛋白的 WW 结构域。该基因的缺陷是常染色体隐性遗传形式的非综合征性感音神经性耳聋的原因。另据报道，该基因中的四个同义变体与肾结石和骨密度降低有关。已发现该基因的几种转录变体编码相同的蛋白质。[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. The encoded protein also binds specifically to the WW domain of Yes-associated protein. Defects in this gene are the cause of an autosomal recessive form of nonsyndromic sensorineural deafness. It is also reported that four synonymous variants in this gene are associated with kidney stones and reduced bone mineral density. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jun 2010]

CLDN14 基因产物(5)

mRNA Protein Name
NM_001146077.2 NP_001139549.1 claudin-14
NM_001146078.3 NP_001139550.1 claudin-14
NM_001146079.2 NP_001139551.1 claudin-14
NM_012130.4 NP_036262.1 claudin-14
NM_144492.3 NP_652763.1 claudin-14
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 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

CLDN14 蛋白结构

PMP22_Claudin

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

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

claudin-14

CLDN14 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 CLDN14 O95500 CTXN3 Homo sapiens Q4LDR2
Validated Y2H
32296183
Intra CLDN14 O95500 PLLP Homo sapiens Q9Y342
Validated Y2H
32296183
Intra CLDN14 O95500 MAL Homo sapiens P21145
Validated Y2H
32296183
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
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
Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb

Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb

Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb

Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb

Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Nonsyndromic Deafness

Deafness, Autosomal Recessive, Nonsyndromic
Deafness, Autosomal Recessive
Deafness, Autosomal Dominant 51

Chromosome 9q21.11 Duplication Syndrome

DFNA51

Autosomal Dominant Nonsyndromic Deafness 51

Autosomal Dominant Deafness 51

Deafness, Autosomal Dominant, Type 51
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
Deafness, Autosomal Recessive 49

DFNB49

Autosomal Recessive Nonsyndromic Deafness 49

Autosomal Recessive Deafness 49

Deafness, Autosomal Recessive, 49

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 49

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 49

Deafness, Autosomal Recessive, Type 49
Deafness, Autosomal Recessive 42

DFNB42

Autosomal Recessive Nonsyndromic Deafness 42

Autosomal Recessive Deafness 42

Deafness, Autosomal Recessive, 42

Congenital Neurosensory Deafness Autosomal Recessive 42

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42

Deafness, Autosomal Recessive, Type 42
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
Deafness, Autosomal Recessive 98

DFNB98

Autosomal Recessive Nonsyndromic Deafness 98

Autosomal Recessive Deafness 98

Deafness, Autosomal Recessive, 98

Deafness, Autosomal Recessive, Type 98
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
Auditory System Disease

Ear Diseases

Ear And Mastoid 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

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-RS02765 CLDN14 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CLDN14 RGD RGD:1309165
Felis catus CLDN14 VGNC VGNC:102672
Macaca mulatta CLDN14 VGNC VGNC:71245
Bos taurus CLDN14 VGNC VGNC:53518
Canis familiaris CLDN14 VGNC VGNC:39311
Mus musculus CLDN14 MGD MGI:1860425
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