NPHP2
MCID: NPH030
MIFTS: 50

Nephronophthisis 2 (NPHP2)

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nephronophthisis 2

MalaCards integrated aliases for Nephronophthisis 2:

Name: Nephronophthisis 2 57 12 72 6 15 70
Nphp2 57 12 72 54
Nephronophthisis 2, Infantile 57 29 13
Nph2 57 12
Infantile Nephronophthisis 2 12
Infantile Nephronophthisis 72
Nephronophthisis, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
neonatal death secondary to pulmonary insufficiency


HPO:

31
nephronophthisis 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Nephronophthisis 2

UniProtKB/Swiss-Prot : 72 Nephronophthisis 2: An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by early onset and rapid progression. Phenotypic manifestations include enlarged kidneys, chronic tubulo-interstitial nephritis, anemia, hyperkalemic metabolic acidosis. Some patients also display situs inversus. Pathologically, it differs from later-onset nephronophthisis by the absence of medullary cysts and thickened tubular basement membranes, and by the presence of cortical microcysts.

MalaCards based summary : Nephronophthisis 2, also known as nphp2, is related to infantile nephronophthisis and nephronophthisis 3. An important gene associated with Nephronophthisis 2 is INVS (Inversin), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. Affiliated tissues include kidney, liver and eye, and related phenotypes are situs inversus totalis and hypertension

Disease Ontology : 12 A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31.

More information from OMIM: 602088 PS256100

Related Diseases for Nephronophthisis 2

Diseases in the Nephronophthisis family:

Nephronophthisis 1 Nephronophthisis 2
Nephronophthisis 3 Nephronophthisis 4
Nephronophthisis 7 Nephronophthisis 11
Nephronophthisis 12 Nephronophthisis 9
Nephronophthisis 13 Nephronophthisis 14
Nephronophthisis 15 Nephronophthisis 16
Nephronophthisis 18 Nephronophthisis 19
Nephronophthisis 20 Infantile Nephronophthisis
Juvenile Nephronophthisis Late-Onset Nephronophthisis

Diseases related to Nephronophthisis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Related Disease Score Top Affiliating Genes
1 infantile nephronophthisis 31.8 TTC21B-AS1 TTC21B NPHP4 NPHP3 NEK8 INVS
2 nephronophthisis 3 30.5 NXPH4 NPHP3 NPHP1
3 orofaciodigital syndrome 30.3 TMEM67 DCAF8 CEP290
4 nephronophthisis 30.3 TTC21B-AS1 TTC21B TMEM67 RPGRIP1L NXPH4 NPHP4
5 oligohydramnios 30.2 TMEM67 MKS1 INVS CC2D2A
6 nephronophthisis 18 30.2 NPHP4 NPHP3 NPHP1 NEK9 IQCB1 INVS
7 nephronophthisis 4 30.1 NPHP4 NPHP1
8 nephronophthisis 1 30.1 NXPH4 NPHP4 NPHP3 NPHP1 MKS1 INVS
9 congenital hepatic fibrosis 30.1 TMEM67 RPGRIP1L CC2D2A ANKS6 AHI1
10 nephronophthisis 15 30.0 NPHP4 NPHP3 NPHP1 NEK9 NEK8 IQCB1
11 ciliopathy 29.9 TTC21B TMEM67 RPGRIP1L NPHP4 CEP290 CC2D2A
12 polycystic kidney disease 29.7 TMEM67 NPHP3 NEK8 MKS1 INVS CEP290
13 cystic kidney disease 29.7 TMEM67 NPHP4 NPHP3 NPHP1 NEK9 NEK8
14 short-rib thoracic dysplasia 1 with or without polydactyly 29.7 TTC21B-AS1 TTC21B TMEM67 RPGRIP1L NPHP1 INVS
15 juvenile nephronophthisis 29.6 TTC21B-AS1 TTC21B TMEM67 NPHP4 NPHP3 NPHP1
16 joubert syndrome 1 29.1 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1
17 polycystic kidney disease 4 with or without polycystic liver disease 28.9 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1
18 asphyxiating thoracic dystrophy 28.9 TTC21B-AS1 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3
19 senior-loken syndrome 1 28.7 TTC21B-AS1 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3
20 nephronophthisis 9 28.7 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1
21 congenital nephrotic syndrome finnish type 10.4 TTC21B-AS1 TTC21B
22 polycystic liver disease 10.4 TMEM67 NEK8 INVS
23 caroli disease 10.4 NPHP3 NPHP1 INVS
24 retinal ciliopathy 10.4 IQCB1 CEP290
25 short-rib thoracic dysplasia 4 with or without polydactyly 10.4 TTC21B-AS1 TTC21B
26 cone-rod dystrophy 13 10.4 RPGRIP1L NPHP4 IQCB1
27 leber congenital amaurosis 3 10.3 NPHP4 IQCB1 CEP290
28 renal dysplasia, cystic 10.3 NPHP3 CEP290
29 joubert syndrome 14 10.3 NPHP4 B9D2
30 leber congenital amaurosis 13 10.3 IQCB1 CEP290
31 acrocallosal syndrome 10.3 RPGRIP1L NPHP1 AHI1
32 bardet-biedl syndrome 11 10.3 RPGRIP1L MKS1 CEP290
33 leber congenital amaurosis 6 10.3 MKS1 CEP290
34 ellis-van creveld syndrome 10.3 TTC21B RPGRIP1L INVS CEP290
35 johanson-blizzard syndrome 10.3 RPGRIP1L CEP290 CC2D2A
36 joubert syndrome 24 10.3 RPGRIP1L NPHP1 CEP290 AHI1
37 bardet-biedl syndrome 6 10.3 RPGRIP1L MKS1 INVS CEP290
38 bardet-biedl syndrome 13 10.3 MKS1 CEP290
39 arima syndrome 10.3 NPHP4 CEP290 CC2D2A
40 joubert syndrome 15 10.3 RPGRIP1L NPHP4 NPHP1 CC2D2A
41 leber congenital amaurosis 10 10.3 IQCB1 CEP290
42 nephrotic syndrome, type 1 10.2 TTC21B-AS1 TTC21B
43 physical disorder 10.2 TMEM67 MKS1 INVS CEP290
44 pathologic nystagmus 10.2 TMEM67 MKS1 CEP290
45 meckel syndrome, type 7 10.2 NPHP3 MKS1 CC2D2A B9D2
46 retinal aplasia 10.2 TTC21B-AS1 TTC21B NPHP4 NPHP1 IQCB1 CEP290
47 bardet-biedl syndrome 1 10.2 TMEM67 NPHP4 NPHP1 MKS1 CEP290
48 alstrom syndrome 10.2 RPGRIP1L NPHP3 NEK9 IQCB1 INVS CEP290
49 polydactyly 10.2 TTC21B TMEM67 MKS1 CEP290 CC2D2A
50 eye disease 10.2 NPHP4 NPHP1 IQCB1 CEP290 AHI1

Graphical network of the top 20 diseases related to Nephronophthisis 2:



Diseases related to Nephronophthisis 2

Symptoms & Phenotypes for Nephronophthisis 2

Human phenotypes related to Nephronophthisis 2:

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 occasional (7.5%) HP:0001696
2 hypertension 31 HP:0000822
3 respiratory insufficiency 31 HP:0002093
4 hyperkalemia 31 HP:0002153
5 enlarged kidney 31 HP:0000105
6 respiratory failure 31 HP:0002878
7 nephronophthisis 31 HP:0000090
8 oligohydramnios 31 HP:0001562
9 pulmonary hypoplasia 31 HP:0002089
10 stage 5 chronic kidney disease 31 HP:0003774
11 elevated serum creatinine 31 HP:0003259
12 hyperkalemic metabolic acidosis 31 HP:0005976
13 pulmonary insufficiency 31 HP:0010444
14 hyperechogenic kidneys 31 HP:0004719
15 renal cortical microcysts 31 HP:0004734
16 absence of renal corticomedullary differentiation 31 HP:0005564
17 chronic tubulointerstitial nephritis 31 HP:0004743

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Vascular:
hypertension

Respiratory Lung:
respiratory failure
pulmonary hypoplasia

Metabolic Features:
hyperkalemic metabolic acidosis

Abdomen:
situs inversus (in some patients)

Laboratory Abnormalities:
hyperkalemia
elevated serum creatinine

Prenatal Manifestations Amniotic Fluid:
oligohydramnios

Genitourinary Kidneys:
chronic tubulointerstitial nephritis
cortical microcysts
renal failure by age 3
enlarged, hyperechogenic kidneys (ultrasound)
absence of corticomedullary differentiation (ultrasound)
more

Clinical features from OMIM®:

602088 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nephronophthisis 2:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 ANKS6 B9D2 CC2D2A CEP290 DCAF8 INVS
2 cellular MP:0005384 10.32 AHI1 B9D2 CC2D2A CEP290 GLIS2 INVS
3 growth/size/body region MP:0005378 10.25 AHI1 ANKS6 B9D2 CC2D2A CEP290 DCAF8
4 homeostasis/metabolism MP:0005376 10.22 AHI1 B9D2 CEP290 DCAF8 GLIS2 INVS
5 embryo MP:0005380 10.16 ANKS6 B9D2 CC2D2A INVS MKS1 NEK9
6 mortality/aging MP:0010768 10.13 AHI1 ANKS6 B9D2 CC2D2A CEP290 GLIS2
7 immune system MP:0005387 10.11 AHI1 B9D2 CEP290 DCAF8 GLIS2 INVS
8 craniofacial MP:0005382 10.1 B9D2 CC2D2A CEP290 MKS1 NPHP3 RPGRIP1L
9 digestive/alimentary MP:0005381 10.02 B9D2 CC2D2A INVS MKS1 NEK8 RPGRIP1L
10 liver/biliary system MP:0005370 9.92 ANKS6 B9D2 CEP290 DCAF8 INVS MKS1
11 nervous system MP:0003631 9.9 AHI1 B9D2 CC2D2A CEP290 MKS1 NPHP1
12 renal/urinary system MP:0005367 9.83 AHI1 B9D2 CC2D2A CEP290 GLIS2 INVS
13 respiratory system MP:0005388 9.28 ANKS6 B9D2 CC2D2A CEP290 DCAF8 INVS

Drugs & Therapeutics for Nephronophthisis 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Characterization and Analysis of Long-term Evolution of Renal and Extra-renal Damages in the Course of Nephronophthisis Completed NCT01022957

Search NIH Clinical Center for Nephronophthisis 2

Genetic Tests for Nephronophthisis 2

Genetic tests related to Nephronophthisis 2:

# Genetic test Affiliating Genes
1 Nephronophthisis 2, Infantile 29

Anatomical Context for Nephronophthisis 2

MalaCards organs/tissues related to Nephronophthisis 2:

40
Kidney, Liver, Eye, Lung

Publications for Nephronophthisis 2

Articles related to Nephronophthisis 2:

(show all 50)
# Title Authors PMID Year
1
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. 6 57 54 61
19177160 2009
2
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 57 54 6 61
12872123 2003
3
Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? 6 57
2702088 1989
4
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 6 54 61
18076122 2008
5
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 61 6
23559409 2013
6
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 61 6
21866095 2011
7
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. 61 6
20798123 2010
8
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players. 6
33532864 2021
9
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 6
25525159 2015
10
A Bedouin kindred with infantile nephronophthisis demonstrates linkage to chromosome 9 by homozygosity mapping. 57
9792867 1998
11
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. 57
2884728 1987
12
Nephronophthisis. 54 61
18607645 2009
13
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus. 61 54
18218308 2008
14
Evidence of oligogenic inheritance in nephronophthisis. 61 54
17855640 2007
15
Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease. 61 54
17216245 2007
16
Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene. 61 54
14750102 2004
17
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. 61 54
12872122 2003
18
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. 54 61
12205563 2002
19
New insights: nephronophthisis-medullary cystic kidney disease. 61 54
11261687 2001
20
Nephronophthisis gene products display RNA-binding properties and are recruited to stress granules. 61
32994509 2020
21
[Ultrasonographic manifestation and genetic analysis of a fetus with nephronophthisis type 2]. 61
32335886 2020
22
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants. 61
31635528 2020
23
Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China‚Ä©. 61
31131822 2019
24
Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling. 61
30414501 2019
25
Tubular cell loss in early inv/nphp2 mutant kidneys represents a possible homeostatic mechanism in cortical tubular formation. 61
29889867 2018
26
Loss of inversin decreases transepithelial sodium transport in murine renal cells. 61
28978526 2017
27
Inversin correlates with the malignant phenotype of non-small cell lung cancer and promotes the invasiveness of lung cancer cells. 61
28618971 2017
28
Phosphorylation-dependent Akt-Inversin interaction at the basal body of primary cilia. 61
27220846 2016
29
High mutation rate of NPHP3 in 18 Chinese infantile nephronophthisis patients. 61
26184788 2016
30
Structural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice. 61
26615802 2016
31
The nephronophthisis gene product NPHP2/Inversin interacts with Aurora A and interferes with HDAC6-mediated cilia disassembly. 61
24026243 2013
32
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. 61
23793029 2013
33
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene. 61
23713026 2013
34
Situs inversus and cystic kidney disease: Two adult patients with this Heterogeneous syndrome. 61
23569556 2013
35
The ciliary protein Nek8/Nphp9 acts downstream of Inv/Nphp2 during pronephros morphogenesis and left-right establishment in zebrafish. 61
22687244 2012
36
Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins. 61
22393243 2012
37
Inhibition of the p38 MAPK pathway ameliorates renal fibrosis in an NPHP2 mouse model. 61
22076433 2012
38
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing. 61
22004009 2012
39
Control of the Wnt pathways by nephrocystin-4 is required for morphogenesis of the zebrafish pronephros. 61
21498478 2011
40
Nephrocystin-3 is required for ciliary function in zebrafish embryos. 61
20462968 2010
41
Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas. 61
20664800 2010
42
Inv acts as a molecular anchor for Nphp3 and Nek8 in the proximal segment of primary cilia. 61
20169535 2010
43
ERK regulates renal cell proliferation and renal cyst expansion in inv mutant mice. 61
19492026 2009
44
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. 61
18199800 2008
45
Mutational analysis in 119 families with nephronophthisis. 61
17061121 2007
46
Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors. 61
15817158 2005
47
Renal cysts of inv/inv mice resemble early infantile nephronophthisis. 61
15213262 2004
48
The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. 61
12244321 2002
49
Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. 61
12234310 2002
50
Molecular genetics of nephronophthisis and medullary cystic kidney disease. 61
10966501 2000

Variations for Nephronophthisis 2

ClinVar genetic disease variations for Nephronophthisis 2:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INVS NM_014425.5(INVS):c.3182dup (p.Asn1061fs) Duplication Pathogenic 531624 rs760013326 GRCh37: 9:103062934-103062935
GRCh38: 9:100300652-100300653
2 TTC21B NM_024753.5(TTC21B):c.2758-2A>G SNV Pathogenic 30937 rs766132877 GRCh37: 2:166756392-166756392
GRCh38: 2:165899882-165899882
3 TTC21B-AS1 , TTC21B NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) SNV Pathogenic 30935 rs140511594 GRCh37: 2:166797621-166797621
GRCh38: 2:165941111-165941111
4 INVS NM_014425.5(INVS):c.1453del (p.Gln485fs) Deletion Pathogenic 11963 rs753348470 GRCh37: 9:103015407-103015407
GRCh38: 9:100253125-100253125
5 INVS NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) SNV Pathogenic 11961 rs267607185 GRCh37: 9:103055258-103055258
GRCh38: 9:100292976-100292976
6 INVS NM_014425.5(INVS):c.1478T>C (p.Leu493Ser) SNV Pathogenic 11960 rs121964995 GRCh37: 9:103027117-103027117
GRCh38: 9:100264835-100264835
7 INVS NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) SNV Pathogenic 11959 rs121964994 GRCh37: 9:103046624-103046624
GRCh38: 9:100284342-100284342
8 INVS NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) SNV Pathogenic 974395 GRCh37: 9:103027123-103027123
GRCh38: 9:100264841-100264841
9 INVS NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) SNV Pathogenic 11962 rs200844390 GRCh37: 9:103055234-103055234
GRCh38: 9:100292952-100292952
10 INVS NM_014425.5(INVS):c.1760del (p.Gln587fs) Deletion Pathogenic 1029277 GRCh37: 9:103035334-103035334
GRCh38: 9:100273052-100273052
11 INVS NM_014425.5(INVS):c.875C>T (p.Pro292Leu) SNV Likely pathogenic 917944 GRCh37: 9:103004930-103004930
GRCh38: 9:100242648-100242648
12 overlap with 2 genes Deletion Likely pathogenic 402241 GRCh37: 9:102814578-102968415
GRCh38:
13 INVS NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) SNV Likely pathogenic 690376 rs755288504 GRCh37: 9:103046606-103046606
GRCh38: 9:100284324-100284324
14 INVS NM_014425.5(INVS):c.2949dup (p.Lys984fs) Duplication Likely pathogenic 690377 rs1588153872 GRCh37: 9:103059356-103059357
GRCh38: 9:100297074-100297075
15 INVS NM_014425.5(INVS):c.2310C>T (p.His770=) SNV Conflicting interpretations of pathogenicity 240911 rs116606949 GRCh37: 9:103054849-103054849
GRCh38: 9:100292567-100292567
16 INVS NM_014425.5(INVS):c.-178G>A SNV Uncertain significance 364217 rs886063263 GRCh37: 9:102861545-102861545
GRCh38: 9:100099263-100099263
17 INVS NM_014425.5(INVS):c.3099C>T (p.Asn1033=) SNV Uncertain significance 364236 rs368303175 GRCh37: 9:103062857-103062857
GRCh38: 9:100300575-100300575
18 INVS NM_014425.5(INVS):c.889G>A (p.Ala297Thr) SNV Uncertain significance 364224 rs116475199 GRCh37: 9:103004944-103004944
GRCh38: 9:100242662-100242662
19 INVS NM_014425.5(INVS):c.*469A>T SNV Uncertain significance 364245 rs886063279 GRCh37: 9:103063425-103063425
GRCh38: 9:100301143-100301143
20 INVS NM_014425.5(INVS):c.775C>T (p.Leu259=) SNV Uncertain significance 364222 rs886063264 GRCh37: 9:103002501-103002501
GRCh38: 9:100240219-100240219
21 INVS NM_014425.5(INVS):c.118C>G (p.Leu40Val) SNV Uncertain significance 364221 rs148219510 GRCh37: 9:102888676-102888676
GRCh38: 9:100126394-100126394
22 INVS NM_014425.5(INVS):c.2441C>T (p.Ala814Val) SNV Uncertain significance 364231 rs886063269 GRCh37: 9:103054980-103054980
GRCh38: 9:100292698-100292698
23 INVS NM_014425.5(INVS):c.2001C>T (p.Gly667=) SNV Uncertain significance 364229 rs536554704 GRCh37: 9:103046818-103046818
GRCh38: 9:100284536-100284536
24 INVS NM_014425.5(INVS):c.-129C>A SNV Uncertain significance 364219 rs533889420 GRCh37: 9:102861594-102861594
GRCh38: 9:100099312-100099312
25 INVS NM_014425.5(INVS):c.3056C>G (p.Ser1019Cys) SNV Uncertain significance 364235 rs886063272 GRCh37: 9:103060257-103060257
GRCh38: 9:100297975-100297975
26 INVS NM_014425.5(INVS):c.1916C>A (p.Ala639Asp) SNV Uncertain significance 364228 rs886063268 GRCh37: 9:103046733-103046733
GRCh38: 9:100284451-100284451
27 INVS NM_014425.5(INVS):c.*98A>G SNV Uncertain significance 364238 rs886063274 GRCh37: 9:103063054-103063054
GRCh38: 9:100300772-100300772
28 INVS NM_014425.5(INVS):c.2489C>T (p.Thr830Ile) SNV Uncertain significance 364232 rs886063270 GRCh37: 9:103055028-103055028
GRCh38: 9:100292746-100292746
29 INVS NM_014425.5(INVS):c.1945G>A (p.Val649Met) SNV Uncertain significance 220405 rs115042730 GRCh37: 9:103046762-103046762
GRCh38: 9:100284480-100284480
30 INVS NM_014425.5(INVS):c.284G>A (p.Arg95His) SNV Uncertain significance 499597 rs372088206 GRCh37: 9:102988354-102988354
GRCh38: 9:100226072-100226072
31 INVS NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) SNV Uncertain significance 496840 rs147731667 GRCh37: 9:103054925-103054925
GRCh38: 9:100292643-100292643
32 INVS NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) SNV Uncertain significance 194408 rs374891838 GRCh37: 9:103055315-103055315
GRCh38: 9:100293033-100293033
33 INVS NM_014425.5(INVS):c.564G>A (p.Trp188Ter) SNV Uncertain significance 632529 rs1564167474 GRCh37: 9:102992058-102992058
GRCh38: 9:100229776-100229776
34 INVS NM_014425.5(INVS):c.1464+1G>A SNV Uncertain significance 632530 rs375753623 GRCh37: 9:103015419-103015419
GRCh38: 9:100253137-100253137
35 INVS NM_014425.5(INVS):c.962A>G (p.Glu321Gly) SNV Uncertain significance 638415 rs749655348 GRCh37: 9:103008953-103008953
GRCh38: 9:100246671-100246671
36 INVS NM_014425.5(INVS):c.286T>C (p.Phe96Leu) SNV Uncertain significance 912980 GRCh37: 9:102988356-102988356
GRCh38: 9:100226074-100226074
37 INVS NM_014425.5(INVS):c.501G>A (p.Leu167=) SNV Uncertain significance 912981 GRCh37: 9:102991995-102991995
GRCh38: 9:100229713-100229713
38 INVS NM_014425.5(INVS):c.2520C>T (p.Leu840=) SNV Uncertain significance 913025 GRCh37: 9:103055059-103055059
GRCh38: 9:100292777-100292777
39 INVS NM_014425.5(INVS):c.2570C>T (p.Ser857Leu) SNV Uncertain significance 913026 GRCh37: 9:103055109-103055109
GRCh38: 9:100292827-100292827
40 INVS NM_014425.5(INVS):c.2714G>A (p.Arg905Lys) SNV Uncertain significance 913027 GRCh37: 9:103055253-103055253
GRCh38: 9:100292971-100292971
41 INVS NM_014425.5(INVS):c.2803C>T (p.His935Tyr) SNV Uncertain significance 215514 rs139768159 GRCh37: 9:103059215-103059215
GRCh38: 9:100296933-100296933
42 INVS NM_014425.5(INVS):c.1111A>G (p.Ser371Gly) SNV Uncertain significance 531619 rs200546215 GRCh37: 9:103014597-103014597
GRCh38: 9:100252315-100252315
43 INVS NM_014425.5(INVS):c.1374C>A (p.Thr458=) SNV Uncertain significance 700245 rs114912725 GRCh37: 9:103015328-103015328
GRCh38: 9:100253046-100253046
44 INVS NM_014425.5(INVS):c.796+4C>T SNV Uncertain significance 364223 rs371310920 GRCh37: 9:103002526-103002526
GRCh38: 9:100240244-100240244
45 INVS NM_014425.5(INVS):c.2874A>G (p.Thr958=) SNV Uncertain significance 364233 rs886063271 GRCh37: 9:103059286-103059286
GRCh38: 9:100297004-100297004
46 INVS NM_014425.5(INVS):c.*73T>A SNV Uncertain significance 364237 rs886063273 GRCh37: 9:103063029-103063029
GRCh38: 9:100300747-100300747
47 INVS NM_014425.5(INVS):c.2210A>G (p.Lys737Arg) SNV Uncertain significance 914471 GRCh37: 9:103054749-103054749
GRCh38: 9:100292467-100292467
48 INVS NM_014425.5(INVS):c.-176C>T SNV Uncertain significance 914933 GRCh37: 9:102861547-102861547
GRCh38: 9:100099265-100099265
49 INVS NM_014425.5(INVS):c.*45G>A SNV Uncertain significance 914512 GRCh37: 9:103063001-103063001
GRCh38: 9:100300719-100300719
50 INVS NM_014425.5(INVS):c.*5C>T SNV Uncertain significance 914511 GRCh37: 9:103062961-103062961
GRCh38: 9:100300679-100300679

UniProtKB/Swiss-Prot genetic disease variations for Nephronophthisis 2:

72
# Symbol AA change Variation ID SNP ID
1 INVS p.Pro482Arg VAR_022822
2 INVS p.Leu493Ser VAR_022823 rs121964995

Expression for Nephronophthisis 2

Search GEO for disease gene expression data for Nephronophthisis 2.

Pathways for Nephronophthisis 2

GO Terms for Nephronophthisis 2

Cellular components related to Nephronophthisis 2 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.41 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP1 NEK9
2 cytosol GO:0005829 10.33 RPGRIP1L NPHP4 NPHP3 NPHP1 NEK9 MKS1
3 cytoskeleton GO:0005856 10.13 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP1 NEK8
4 cell projection GO:0042995 10.1 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1
5 centrosome GO:0005813 10.07 TMEM67 RPGRIP1L NPHP4 NEK9 NEK8 MKS1
6 microtubule organizing center GO:0005815 9.97 RPGRIP1L NPHP4 NEK8 MKS1 IQCB1 CEP290
7 ciliary basal body GO:0036064 9.93 RPGRIP1L NPHP4 MKS1 CEP290 B9D2 AHI1
8 cell-cell junction GO:0005911 9.84 RPGRIP1L NPHP4 NPHP1 AHI1
9 centriole GO:0005814 9.83 MKS1 IQCB1 CEP290 AHI1
10 photoreceptor connecting cilium GO:0032391 9.8 RPGRIP1L NPHP4 NPHP1 IQCB1 CEP290
11 bicellular tight junction GO:0005923 9.73 RPGRIP1L NPHP4 NPHP1
12 ciliary transition zone GO:0035869 9.7 TMEM67 RPGRIP1L NPHP4 MKS1 CEP290 CC2D2A
13 non-motile cilium GO:0097730 9.69 NPHP4 GLIS2 AHI1
14 ciliary inversin compartment GO:0097543 9.61 NEK8 INVS ANKS6
15 cilium GO:0005929 9.5 TTC21B TMEM67 RPGRIP1L NPHP4 NPHP3 NPHP1
16 MKS complex GO:0036038 9.43 TMEM67 MKS1 CEP290 CC2D2A B9D2 AHI1

Biological processes related to Nephronophthisis 2 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.76 TMEM67 NPHP1 MKS1 IQCB1 CEP290 CC2D2A
2 determination of left/right symmetry GO:0007368 9.73 RPGRIP1L NPHP3 NEK8 MKS1 CC2D2A ANKS6
3 kidney development GO:0001822 9.72 RPGRIP1L NPHP3 GLIS2 CC2D2A ANKS6
4 non-motile cilium assembly GO:1905515 9.63 RPGRIP1L MKS1 CC2D2A
5 photoreceptor cell maintenance GO:0045494 9.61 NPHP4 NPHP3 IQCB1
6 cilium assembly GO:0060271 9.61 TMEM67 RPGRIP1L NPHP3 MKS1 IQCB1 CEP290
7 motile cilium assembly GO:0044458 9.58 MKS1 CC2D2A
8 hindbrain development GO:0030902 9.57 CEP290 AHI1
9 head development GO:0060322 9.56 RPGRIP1L MKS1
10 embryonic brain development GO:1990403 9.55 MKS1 CC2D2A
11 photoreceptor cell outer segment organization GO:0035845 9.54 NPHP4 AHI1
12 regulation of smoothened signaling pathway GO:0008589 9.54 TTC21B RPGRIP1L MKS1
13 protein localization to ciliary transition zone GO:1904491 9.52 NPHP4 CC2D2A
14 positive regulation of bicellular tight junction assembly GO:1903348 9.51 NPHP4 NPHP1
15 regulation of Wnt signaling pathway, planar cell polarity pathway GO:2000095 9.49 NPHP3 MKS1
16 maintenance of animal organ identity GO:0048496 9.48 NPHP3 IQCB1
17 visual behavior GO:0007632 9.4 NPHP4 NPHP1
18 ciliary basal body-plasma membrane docking GO:0097711 9.32 TMEM67 RPGRIP1L NPHP4 NPHP1 MKS1 IQCB1

Sources for Nephronophthisis 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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