CLDN14 - claudin 14 Gene

Also Known as DFNB29

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23562

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CLDN14 Protein Structure

PMP22_Claudin

0
100
200
239 a.a.

Protein Preferred Names	Protein Names
claudin-14

CLDN14 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

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