NPHP4 - nephrocystin 4 Gene

Also Known as POC10; SLSN4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 261734

About NPHP4

Cytogenetic location: 1p36.31 Genomic coordinates (GRCh38): 1:5,862,811-5,992,425 (from NCBI)

This gene has 11 transcripts (splice variants), 213 orthologues and is associated with 6 phenotypes. Broad expression in testis (RPKM 3.4), thyroid (RPKM 2.6) and 25 other tissues.

Summary

This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

NPHP4 Products (3)

mRNA	Protein	Name
NM_001291593.2	NP_001278522.1	nephrocystin-4 isoform b
NM_001291594.2	NP_001278523.1	nephrocystin-4 isoform c
NM_015102.5	NP_055917.1	nephrocystin-4 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12244321	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of canonical Wnt signaling pathway	IDA IDA: Inferred from direct assay	22654112	GOA
involved in positive regulation of bicellular tight junction assembly	IMP IMP: Inferred from mutant phenotype	19755384	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell-cell junction	IDA IDA: Inferred from direct assay	21565611	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	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

Protein Preferred Names	Protein Names
nephrocystin-4	POC10 centriolar protein homolog

NPHP4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	NPHP4	O75161	RPGRIP1	Homo sapiens	Q96KN7	Anti Tag CoIP	21224891
Intra	NPHP4	O75161	INTU	Homo sapiens	Q9ULD6	Anti Tag CoIP	26644512
Intra	NPHP4	O75161	PTK2B	Homo sapiens	Q14289	Anti Bait CoIP	15661758
Intra	NPHP4	O75161	RUVBL1	Homo sapiens	Q9Y265	Anti Tag CoIP	29959317
Intra	NPHP4	O75161	RPGRIP1L	Homo sapiens	Q68CZ1-2	Y2H	17558407
Intra	NPHP4	O75161	RPGRIP1L	Homo sapiens	Q68CZ1-2	Pull Down	17558407
Intra	NPHP4	O75161	NPHP1	Homo sapiens	O15259	BioID	26638075
Intra	NPHP4	O75161	NPHP1	Homo sapiens	O15259	Anti Tag CoIP	15661758
Intra	NPHP4	O75161	NPHP1	Homo sapiens	O15259	Anti Bait CoIP	15661758
Intra	NPHP4	O75161	NPHP1	Homo sapiens	O15259	TAP	27173435

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Nephronophthisis 4	NPHP4 Juvenile Nephronophthisis 4 Nephronophthisis 4, Juvenile Nephronophthisis, Type 4
Senior-Loken Syndrome 4	SLSN4 Senior-Loken Syndrome, Type 4
Juvenile Nephronophthisis	Nephronophthisis Nephronophthisis, Familial Juvenile
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Infertility
Cogan Syndrome	Cogan'S Syndrome Diffuse Interstitual Keratitis Cogans Syndrome Oculovestibuloauditory Syndrome
Nephronophthisis 2	NPHP2 Nph2 Nephronophthisis 2, Infantile Infantile Nephronophthisis 2 Infantile Nephronophthisis Nephronophthisis, Type 2
Arima Syndrome	Dekaban-Arima Syndrome Joubert Syndrome With Bilateral Chorioretinal Coloboma Cors Cerebello-Oculo-Renal Syndrome Cerebellooculorenal Syndrome Js Type B Js-Or Joubert Syndrome 5 Joubert Syndrome With Senior-Loken Syndrome Joubert Syndrome With Oculorenal Defect Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia Cerebrooculohepatorenal Syndrome Joubert Syndrome With Oculorenal Anomalies Cerebro-Oculo-Hepato-Renal Syndrome Chorioretinal Coloboma With Cerebellar Vermis Aplasia Dekaban Arima Syndrome Cor Bj Familial Aplasia Of The Vermis
Nephronophthisis 1	NPHP1 Nephronophthisis, Familial Juvenile Nph1 Nephronophthisis 1, Juvenile Juvenile Nephronophthisis 1 Familial Juvenile Nephronophthisis 1 Nephronophthisis, Type 1
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Meckel Syndrome, Type 5	Meckel Syndrome 5 MKS5 Meckel-Gruber Syndrome, Type 5
Joubert Syndrome 7	JBTS7 Cerebello-Oculo-Renal Syndrome 3 Cors3 Joubert Syndrome, Type 7
Joubert Syndrome 20	JBTS20 Joubert Syndrome, Type 20
Macular Degeneration, X-Linked Atrophic	X-Linked Atrophic Macular Degeneration Macular Degeneration, X-Linked, Atrophic MDXLA Degeneration, Macular, X-Linked Atrophic
Nephronophthisis 14	Joubert Syndrome 19 NPHP14 JBTS19 Nephronophthisis, Type 14
Meckel Syndrome, Type 2	MKS2 Meckel Syndrome 2 Meckel-Gruber Syndrome, Type 2 Meckel Syndrome Type 2
Hydrolethalus Syndrome 1	Hydrolethalus Syndrome HLS1 Salonen-Herva-Norio Syndrome Hls Hydrolethalus Hydrolethalus Syndrome, Type 1
Retinal Degeneration	Degeneration Of Retina
Joubert Syndrome 14	JBTS14 Joubert Syndrome, Type 14
Nephronophthisis 12	NPHP12 Joubert Syndrome 11 JBTS11 Nephronophthisis, Type 12
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Renal-Hepatic-Pancreatic Dysplasia	Ivemark'S Syndrome Ivemark Ii Syndrome Renohepaticopancreatic Dysplasia
Retinitis Pigmentosa 77	RP77 Retinitis Pigmentosa, Type 77
Male Infertility	Infertility, Male Infertility Male Male Sterility Absolute Infertility
Renal Fibrosis
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Meckel Syndrome, Type 8	Meckel Syndrome 8 MKS8 Meckel-Gruber Syndrome, Type 8
Nephronophthisis 7	NPHP7 Nephronophthisis, Type 7
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Cone-Rod Dystrophy 1	CORD1 Crd1 Cone-Rod Retinal Dystrophy-1 Retinitis Pigmentosa 1
Retinitis Pigmentosa 69	RP69 Retinitis Pigmentosa, Type 69
End Stage Renal Disease	End Stage Renal Failure End-Stage Kidney Disease Kidney Failure, Chronic Chronic Kidney Disease Stage 5
Nephronophthisis 9	NPHP9 Nephronophthisis, Type 9
Cholestasis, Benign Recurrent Intrahepatic, 2	BRIC2 Benign Recurrent Intrahepatic Cholestasis 2 Benign Recurrent Intrahepatic Cholestasis Type 2 Bric Type 2 Cholestasis, Intrahepatic, Recurrent, Benign, Type 2 Cholestasis, Benign Recurrent Intrahepatic 2
Cone-Rod Dystrophy 13	CORD13 Dystrophy, Cone-Rod, Type 13
Kidney Disease	Renal Failure Kidney Failure Kidney Diseases Nephropathy Abnormality Of The Kidney Impaired Renal Function Disease Renal Anomaly Kidney Dysfunction Renal Disease Nephropathies Renal Failure Adverse Event Abnormal Renal Function
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	MCC2D Mcc2 Deficiency 3-Methylcrotonyl Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Ii Methylcrotonylglycinuria, Type Ii 3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency 3-Methylcrotonylglycinuria Type Ii Mcgii Methylcrotonylglycinuria Type Ii
Nephronophthisis 11	NPHP11 Nephronophthisis, Type 11
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Nephronophthisis 18	NPHP18 Nephronophthisis, Type 18
Coach Syndrome 1	Coach Syndrome Joubert Syndrome With Congenital Hepatic Fibrosis Gentile Syndrome Joubert Syndrome With Hepatic Defect Js-H COACH1 Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Joubert Syndrome 21	JBTS21 Joubert Syndrome, Type 21
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Familial Juvenile Hyperuricemic Nephropathy Mckd2 Familial Juvenile Hyperuricemic Nephropathy Type 1 Fjhn Medullary Cystic Kidney Disease 2 Uromodulin-Associated Kidney Disease Medullary Cystic Kidney Disease Type 2 ADTKD1 Hnfj1 Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria Adtkd-Umod Familial Juvenile Hyperuricemic Nephropathy 1 Umod-Related Adtkd Umod-Related Autosomal Dominant Tubulointerstitial Kidney Disease Hyperuricemic Nephropathy, Familial Juvenile, 1 Gouty Nephropathy, Familial Juvenile Medullary Cystic Kidney Disease 2, Autosomal Dominant Admckd2 Autosomal Dominant Tubulointerstitial Kidney Disease Due To Umod Mutations Adtkd Due To Umod Mutations Autosomal Dominant Tubulointerstitial Kidney Disease, Umod-Related Autosomal Dominant Medullary Cystic Kidney Disease Type 2 Umod-Associated Kidney Disease Uromodulin Kidney Disease Familial Gout-Kidney Disease Familial Gouty Nephropathy Umak Umod-Related Kidney Disease Uromodulin Storage Disease Fjhn1 Gouty Nephropathy Familial Juvenile Nephropathy Familial With Gout Hyperuricemic Nephropathy, Familial Juvenile 1 Hyperuricemic Nephropathy, Familial Juvenile Kidney Disease, Glomerulocystic, With Hyperuricemia And Isosthenuria Nephropathy, Hyperuricemic, Juvenile, Familial, Type 1 Kidney Disease, Cystic, Medullary, Type 2 Medullary Cystic Kidney Disease Type Ii Familial Juvenile Gout
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Joubert Syndrome 3	JBTS3 Joubert Syndrome With Ocular Defect Joubert Syndrome With Ocular Anomalies Js-O Joubert Syndrome With Retinopathy Joubert Syndrome-3 Joubert Syndrome, Type 3
Joubert Syndrome 5	JBTS5 Joubert Syndrome, Type 5
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic Liver Disease 1 PCLD1 Cyst Liver Disease, Polycystic, Type 1 Polycystic Liver Disease
Orofaciodigital Syndrome Vi	OFD6 Varadi-Papp Syndrome Varadi Syndrome Joubert Syndrome With Orofaciodigital Defect Orofaciodigital Syndrome Type 6 Orofaciodigital Syndrome 6 Oral-Facial-Digital Syndrome, Type Vi Ofds Vi Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation Polydactyly Cleft Lip Palate Psychomotor Retardation Oral-Facial-Digital Syndrome Type 6 Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome Polydactyly - Cleft Lip/Palate - Psychomotor Retardation Váradi Syndrome Váradi-Papp Syndrome Joubert Syndrome With Oral-Facial-Digital Syndrome Oral-Facial-Digital Syndrome 6 Joubert-Orofaciodigital Syndrome Orofaciodigital Syndrome, Type Vi
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
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
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary

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-RS09485	NPHP4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	NPHP4	RGD	RGD:1560172
Canis familiaris	NPHP4	VGNC	VGNC:43920
Mus musculus	NPHP4	MGD	MGI:2384210
Bos taurus	NPHP4	VGNC	VGNC:32203
Felis catus	NPHP4	VGNC	VGNC:63868
Macaca mulatta	NPHP4	VGNC	VGNC:75212
Others	NPHP4	NCBI