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Gene : KIRREL1 Homo sapiens

Name  ? kirre like nephrin family adhesion molecule 1 Cytological Location  1q23.1
Brief Description  kirre like nephrin family adhesion molecule 1
description  NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
  • synonyms:
  • KIRREL,
  • uc001frn.6,
  • KIRREL1,
  • NEPH1,
  • kin of IRRE like (Drosophila),
  • NEPH1,
  • nephrin-like protein 1,
  • NM_018240,
  • AK001707,
  • HGNC:15734,
  • OTTHUMG00000022438,
  • KIRREL
  • identifiers:
  • 55243,
  • ENSG00000183853,
  • KIRREL1

Genome feature

Region: gene ? Length: 106990  
Location: 1:157993273-158100262 Cyto location: 1q23.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

18 SN Ps

5 Cross References

16 Data Sets

13 Homologues

0 Located Features

90 Rna Seq Results