Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NPHP3-ACAD11 Gene

Subcategory (RNA class) for NPHP3-ACAD11 Gene

ncRNA

Quality Score for this RNA gene is

3

Aliases for NPHP3-ACAD11 Gene

  • NPHP3-ACAD11 Readthrough (NMD Candidate) 2 3

External Ids for NPHP3-ACAD11 Gene

Previous GeneCards Identifiers for NPHP3-ACAD11 Gene

  • GC03U901738
  • GC03M132278

Summaries for NPHP3-ACAD11 Gene

Entrez Gene Summary for NPHP3-ACAD11 Gene

  • This locus represents naturally occurring read-through transcription between the neighboring NPHP3 (nephronophthisis 3, adolescent) and ACAD11 (acyl-CoA dehydrogenase family, member 11) genes on chromosome 3. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2011]

GeneCards Summary for NPHP3-ACAD11 Gene

NPHP3-ACAD11 (NPHP3-ACAD11 Readthrough (NMD Candidate)) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with NPHP3-ACAD11 include nephronophthisis 3 and renal-hepatic-pancreatic dysplasia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPHP3-ACAD11 Gene

Genomics for NPHP3-ACAD11 Gene

Genomic Location for NPHP3-ACAD11 Gene

Start:
132,558,138 bp from pter
End:
132,722,459 bp from pter
Size:
164,322 bases
Orientation:
Minus strand

Genomic View for NPHP3-ACAD11 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NPHP3-ACAD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPHP3-ACAD11 Gene

No data available for Regulatory Elements for NPHP3-ACAD11 Gene

Proteins for NPHP3-ACAD11 Gene

Post-translational modifications for NPHP3-ACAD11 Gene

No Post-translational modifications

Other Protein References for NPHP3-ACAD11 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for NPHP3-ACAD11 Gene

Domains for NPHP3-ACAD11 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NPHP3-ACAD11 Gene

Function for NPHP3-ACAD11 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NPHP3-ACAD11 Gene

Localization for NPHP3-ACAD11 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for NPHP3-ACAD11 Gene

Pathways for NPHP3-ACAD11 Gene

SuperPathways for NPHP3-ACAD11 Gene

No Data Available

Interacting Proteins for NPHP3-ACAD11 Gene

Gene Ontology (GO) - Biological Process for NPHP3-ACAD11 Gene

None

No data available for Pathways by source for NPHP3-ACAD11 Gene

Transcripts for NPHP3-ACAD11 Gene

mRNA/cDNA for NPHP3-ACAD11 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for NPHP3-ACAD11 Gene

No ASD Table

Relevant External Links for NPHP3-ACAD11 Gene

GeneLoc Exon Structure for
NPHP3-ACAD11
ECgene alternative splicing isoforms for
NPHP3-ACAD11

Expression for NPHP3-ACAD11 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein expression and mRNA Expression by UniProt/SwissProt for NPHP3-ACAD11 Gene

Orthologs for NPHP3-ACAD11 Gene

Evolution for NPHP3-ACAD11 Gene

ENSEMBL:
Gene Tree for NPHP3-ACAD11 (if available)
TreeFam:
Gene Tree for NPHP3-ACAD11 (if available)

No data available for Orthologs for NPHP3-ACAD11 Gene

Paralogs for NPHP3-ACAD11 Gene

No data available for Paralogs for NPHP3-ACAD11 Gene

Variants for NPHP3-ACAD11 Gene

Sequence variations from dbSNP and Humsavar for NPHP3-ACAD11 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs7340563 -- 132,679,742(+) TAAAT(G/T)ACTTG intron-variant
rs16839512 -- 132,679,969(+) CACTA(C/T)AGTGC intron-variant
rs58245704 -- 132,679,168(+) GAGGC(G/T)GAGGC intron-variant
rs111510101 -- 132,679,715(+) AAACC(A/G)AACAC intron-variant
rs139805182 -- 132,679,975(+) AGTGC(C/T)GTAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPHP3-ACAD11 Gene

Variant ID Type Subtype PubMed ID
nsv829728 CNV Gain 17160897
esv2675190 CNV Deletion 23128226
esv2669271 CNV Deletion 23128226
nsv4014 CNV Insertion 18451855

Relevant External Links for NPHP3-ACAD11 Gene

HapMap Linkage Disequilibrium report
NPHP3-ACAD11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPHP3-ACAD11 Gene

Disorders for NPHP3-ACAD11 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for NPHP3-ACAD11 Gene including...

Search for NPHP3-ACAD11 Gene in MalaCards »
genes like me logo Genes that share disorders with NPHP3-ACAD11: view

No data available for UniProtKB/Swiss-Prot for NPHP3-ACAD11 Gene

Publications for NPHP3-ACAD11 Gene

  1. Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method. (PMID: 12056414) Ohara O. … Koseki H. (DNA Res. 2002) 3
  2. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. (PMID: 12872122) Olbrich H. … Omran H. (Nat. Genet. 2003) 3
  3. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T. … Taylor T.D. (PLoS ONE 2010) 3

Products for NPHP3-ACAD11 Gene

Sources for NPHP3-ACAD11 Gene

Back to Top

Content