Gene Gene information from NCBI Gene database.
Entrez ID 4868
Gene name NPHS1 adhesion molecule, nephrin
Gene symbol NPHS1
Synonyms (NCBI Gene)
CNFNPHNnephrin
Chromosome 19
Chromosome location 19q13.12
Summary This gene encodes a member of the immunoglobulin family of cell adhesion molecules that functions in the glomerular filtration barrier in the kidney. The gene is primarily expressed in renal tissues, and the protein is a type-1 transmembrane protein found
SNPs SNP information provided by dbSNP.
144
SNP ID Visualize variation Clinical significance Consequence
rs28939695 C>T Likely-benign, conflicting-interpretations-of-pathogenicity, benign, pathogenic Coding sequence variant, missense variant
rs34124941 ->C Likely-pathogenic Frameshift variant, coding sequence variant
rs35238405 T>C Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, missense variant
rs114203578 C>G,T Likely-pathogenic Coding sequence variant, missense variant
rs114849139 C>G,T Benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
261
miRTarBase ID miRNA Experiments Reference
MIRT676783 hsa-miR-125a-3p HITS-CLIP 23824327
MIRT676782 hsa-miR-764 HITS-CLIP 23824327
MIRT676781 hsa-miR-3934-5p HITS-CLIP 23824327
MIRT676780 hsa-miR-186-3p HITS-CLIP 23824327
MIRT676779 hsa-miR-150-5p HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
WT1 Unknown 15504938;23768159
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0005515 Function Protein binding IPI 16525419, 21858180, 22662192
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 17464107
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602716 7908 ENSG00000161270
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60500
Protein name Nephrin (Renal glomerulus-specific cell adhesion receptor)
Protein function Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle format
PDB 4ZRT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07679 I-set 33 124 Immunoglobulin I-set domain Domain
PF08205 C2-set_2 138 228 CD80-like C2-set immunoglobulin domain Domain
PF08205 C2-set_2 242 328 CD80-like C2-set immunoglobulin domain Domain
PF08205 C2-set_2 344 428 CD80-like C2-set immunoglobulin domain Domain
PF08205 C2-set_2 444 538 CD80-like C2-set immunoglobulin domain Domain
PF08205 C2-set_2 548 634 CD80-like C2-set immunoglobulin domain Domain
PF13927 Ig_3 739 820 Domain
PF13927 Ig_3 838 924 Domain
PF00041 fn3 942 1025 Fibronectin type III domain Domain
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in podocytes of kidney glomeruli.
Sequence
MALGTTLRASLLLLGLLTEGLAQLAIPASVPRGFWALPENLTVVEGASVELRCGVSTPGS
AVQWAKDGLLLGPDPRIPGFPRYRLEGDPARGEFHLHIEACDLSDDAEYECQVGRSEMGP
ELVS
PRVILSILVPPKLLLLTPEAGTMVTWVAGQEYVVNCVSGDAKPAPDITILLSGQTI
SDISANVNEGSQQKLFTVEATARVTPRSSDNRQLLVCEASSPALEAPI
KASFTVNVLFPP
GPPVIEWPGLDEGHVRAGQSLELPCVARGGNPLATLQWLKNGQPVSTAWGTEHTQAVARS
VLVMTVRPEDHGAQLSCEAHNSVSAGTQ
EHGITLQVTFPPSAIIILGSASQTENKNVTLS
CVSKSSRPRVLLRWWLGWRQLLPMEETVMDGLHGGHISMSNLTFLARREDNGLTLTCEAF
SEAFTKET
FKKSLILNVKYPAQKLWIEGPPEGQKLRAGTRVRLVCLAIGGNPEPSLMWYK
DSRTVTESRLPQESRRVHLGSVEKSGSTFSRELVLVTGPSDNQAKFTCKAGQLSASTQ
LA
VQFPPTNVTILANASALRPGDALNLTCVSVSSNPPVNLSWDKEGERLEGVAAPPRRAPFK
GSAAARSVLLQVSSRDHGQRVTCRAHSAELRETV
SSFYRLNVLYRPEFLGEQVLVVTAVE
QGEALLPVSVSANPAPEAFNWTFRGYRLSPAGGPRHRILSSGALHLWNVTRADDGLYQLH
CQNSEGTAEARLRLDVHYAPTIRALQDPTEVNVGGSVDIVCTVDANPILPGMFNWERLGE
DEEDQSLDDMEKISRGPTGRLRIHHAKLAQAGAYQCIVDN
GVAPPARRLLRLVVRFAPQV
EHPTPLTKVAAAGDSTSSATLHCRARGVPNIVFTWTKNGVPLDLQDPRYTEHTYHQGGVH
SSLLTIANVSAAQDYALFTCTATN
ALGSDQTNIQLVSISRPDPPSGLKVVSLTPHSVGLE
WKPGFDGGLPQRFCIRYEALGTPGFHYVDVVPPQATTFTLTGLQPSTRYRVWLLASNALG
DSGLA
DKGTQLPITTPGLHQPSGEPEDQLPTEPPSGPSGLPLLPVLFALGGLLLLSNASC
VGGVLWQRRLRRLAEGISEKTEAGSEEDRVRNEYEESQWTGERDTQSSTVSTTEAEPYYR
SLRDFSPQLPPTQEEVSYSRGFTGEDEDMAFPGHLYDEVERTYPPSGAWGPLYDEVQMGP
WDLHWPEDTYQDPRGIYDQVAGDLDTLEPDSLPFELRGHLV
Sequence length 1241
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Nephrin family interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1061
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital and infantile nephrotic syndrome Likely pathogenic rs2513773078 RCV002306451
Congenital nephrotic syndrome Likely pathogenic; Pathogenic rs386833898, rs386833945, rs762392183 RCV001003824
RCV001003825
RCV001003823
Finnish congenital nephrotic syndrome Likely pathogenic; Pathogenic rs143649022, rs1973073001, rs2146828046, rs771143648, rs1420623853, rs1568453378, rs753535989, rs753394912, rs2146819513, rs1973023048, rs2146821851, rs2146822164, rs2146828521, rs1242448684, rs2146816353
View all (295 more)
RCV002476714
RCV003469621
RCV003473899
RCV003405625
RCV003469739
RCV002298944
RCV002499804
RCV002493928
RCV001391131
RCV001535862
RCV001580749
RCV001733619
RCV001733831
RCV001782538
RCV001795593
RCV001823659
RCV002250775
RCV002503584
RCV004594618
RCV003333189
RCV003464200
RCV005607037
RCV005023490
RCV003471227
RCV005025528
RCV004816835
RCV002052183
RCV002302520
RCV002306674
RCV002306691
RCV002306703
RCV002306768
RCV002306785
RCV002309674
RCV002309676
RCV002309733
RCV002309857
RCV002310001
RCV002308132
RCV002308286
RCV002309056
RCV002309185
RCV002309262
RCV002309276
RCV002309335
RCV002309413
RCV002309431
RCV002309441
RCV002306843
RCV002306984
RCV002306992
RCV002307029
RCV002307093
RCV002307111
RCV002307169
RCV002307290
RCV002310110
RCV002310384
RCV002310466
RCV002310559
RCV000157403
RCV000157399
RCV002471482
RCV005608719
RCV000169477
RCV000169569
RCV000169078
RCV000169038
RCV000169154
RCV003465942
RCV003464570
RCV005608758
RCV005019363
RCV003389266
RCV003465903
RCV005019577
RCV005608852
RCV000007270
RCV000007276
RCV000007277
RCV000007278
RCV003123446
RCV003155825
RCV003326691
RCV003233060
RCV003331616
RCV003412538
RCV003412539
RCV003412540
RCV003412541
RCV003471550
RCV003463188
RCV003471551
RCV003471553
RCV003471555
RCV003463189
RCV003471556
RCV003463190
RCV003471557
RCV003471558
RCV003463191
RCV003471559
RCV003463192
RCV003471560
RCV003471561
RCV003471562
RCV003471563
RCV003463194
RCV003471564
RCV003471565
RCV003471567
RCV003463195
RCV003471568
RCV003471569
RCV003471570
RCV003471571
RCV003463197
RCV003471572
RCV003463198
RCV003471573
RCV003471574
RCV003471575
RCV003471576
RCV003471577
RCV003471578
RCV003471579
RCV003471580
RCV003471581
RCV003471582
RCV003476578
RCV003471583
RCV003471584
RCV003463199
RCV003463200
RCV003463201
RCV003476580
RCV003471585
RCV003471586
RCV003486331
RCV004574109
RCV005030119
RCV005609028
RCV005030185
RCV004573243
RCV004573353
RCV005240968
RCV005030331
RCV005610650
RCV004574372
RCV004574373
RCV004574374
RCV004574375
RCV004574376
RCV004574377
RCV004574379
RCV004574380
RCV004574381
RCV004574382
RCV004574383
RCV004574384
RCV004574385
RCV004574386
RCV004574387
RCV004574388
RCV004594767
RCV004594871
RCV000409058
RCV000412221
RCV000409158
RCV000409298
RCV000411043
RCV000410557
RCV000408979
RCV000409779
RCV000412259
RCV000410344
RCV000411580
RCV000412108
RCV000408986
RCV000410346
RCV000409163
RCV003409609
RCV000495969
RCV000588161
RCV000586227
RCV000587459
RCV000586590
RCV000668674
RCV000667636
RCV000670524
RCV000668394
RCV000670157
RCV000664936
RCV000671869
RCV000672110
RCV000664995
RCV000671140
RCV000670511
RCV000673547
RCV000665767
RCV000668928
RCV000668341
RCV000673085
RCV000674816
RCV000668878
RCV000670625
RCV000670078
RCV000673975
RCV000664570
RCV000672451
RCV000779256
RCV000780551
RCV003467398
RCV000049832
RCV000049833
RCV000049834
RCV000049836
RCV000049837
RCV000049839
RCV000049840
RCV000049841
RCV000049842
RCV000049843
RCV000049844
RCV000049846
RCV000049847
RCV000049848
RCV000049849
RCV000049851
RCV000049852
RCV000049853
RCV000049854
RCV000049855
RCV000049856
RCV000049857
RCV000049858
RCV000049859
RCV000049860
RCV000049861
RCV000049862
RCV000049863
RCV000049864
RCV000049865
RCV000049866
RCV000049868
RCV000049869
RCV000049870
RCV000049871
RCV000049872
RCV000049873
RCV000049875
RCV000049876
RCV000049877
RCV000049878
RCV000049879
RCV000049880
RCV000049881
RCV000049882
RCV000049883
RCV000049884
RCV000049885
RCV000049886
RCV000049887
RCV000049888
RCV000049889
RCV000049890
RCV000049891
RCV000049892
RCV000049893
RCV000049894
RCV000049895
RCV000049896
RCV000049897
RCV000049898
RCV000049899
RCV000049900
RCV000049901
RCV000049902
RCV000049903
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RCV000049905
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RCV000049909
RCV000049910
RCV000049911
RCV000049912
RCV000049914
RCV000049915
RCV000049916
RCV000049917
RCV000049918
RCV000049919
RCV000049920
RCV000049921
RCV000049923
RCV000049924
RCV000049925
RCV000049926
RCV000049927
RCV000049928
RCV000049929
RCV000049930
RCV000049931
RCV000049932
RCV000049933
RCV000049934
RCV000049936
RCV000049937
RCV000990195
RCV001255501
RCV000995591
RCV003467564
RCV001004611
RCV003462565
RCV001329942
RCV005029584
RCV001192699
RCV001197140
RCV005029750
RCV001828852
RCV003132369
RCV001280832
Focal segmental glomerulosclerosis Likely pathogenic; Pathogenic rs753656470, rs138656762, rs386833865 RCV002294487
RCV001195706
RCV002294007
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2513769165, rs387906357 -
Atypical hemolytic-uremic syndrome Conflicting classifications of pathogenicity; Benign; Likely benign rs76131336, rs33950747 RCV002294140
RCV002294138
Corticosteroids response drug response rs1972875644, rs1972884983, rs1973075631 RCV001254660
RCV001254658
RCV001254659
Familial idiopathic steroid-resistant nephrotic syndrome Conflicting classifications of pathogenicity rs201503587, rs114896482 RCV000157402
RCV000208010
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 33597637
Acute Kidney Injury Associate 12920248, 35891358
Albuminuria Associate 24103534, 28334007, 35451598
Arthritis Infectious Inhibit 18364044
Chromosome 22q11.2 Microduplication Syndrome Associate 31443662
Cicatrix Associate 20370455
Diabetes Mellitus Inhibit 15149332, 32099032
Diabetes Mellitus Type 2 Associate 22615747
Diabetic Nephropathies Associate 15149332, 18449463
Diabetic Nephropathies Inhibit 17264876, 19906946, 22615747, 35637650