QuickView for NPHP4;jsessionid=EB33AD20A6986C95A1FE5EF740E282E8 (gene)

Gene Symbol:

NPHP4 Homo sapiens

Full name:

nephrocystin 4

Synonyms:

POC10, SLSN4, nephrocystin-4, POC10 centriolar protein homolog, nephroretinin

Genomic Location:

Chr 1: 5845457-5975118

Description:

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TGGAAA_NFAT_Q4_01 ,  GATTGGY_NFY_Q6_01 ,  OCT1_07 ,  TGANTCA_AP1_C ,  OCT1_04 ,  YATGNWAAT_OCT_C ,  NKX3A_01 ,  STAT6_01 ,  OCT1_Q5_01 ,  HNF4_DR1_Q3 ,  GGGAGGRR_MAZ_Q6 ,  OCT1_Q6 ,  CAGGTA_AREB6_01 ,  CAGGTG_E12_Q6 ,  DR1_Q3 ,  AP4_01 ,  AR_01 ,  NFY_01 ,  AHR_Q5 ,  TGCCAAR_NF1_Q6 ,  POU1F1_Q6 ,  AR_Q2 ,  RNGTGGGC_UNKNOWN ,  HMGIY_Q6 ,  CART1_01 ,  WCAANNNYCAG_UNKNOWN ,  CAGCTG_AP4_Q5 ,  AACTTT_UNKNOWN

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Cytogenetic Map:

1p36.31

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