CLDN14 - claudin 14 Gene

Homo sapiens

Also known as DFNB29

Gene ID: 23562 | Gene type: protein coding

About 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).

Summary

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 Products(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

CLDN14 Protein Structure

PMP22_Claudin

0
100
200
239 a.a.

Protein Preferred Names

Protein Names

claudin-14

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02765	CLDN14 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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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