Homo sapiens Gene: KIRREL3
Summary
InnateDB Gene IDBG-75885.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KIRREL3
Gene Name kin of IRRE like 3 (Drosophila)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000149571
Encoded Proteins
kin of IRRE like 3 (Drosophila)
kin of IRRE like 3 (Drosophila)
kin of IRRE like 3 (Drosophila)
kin of IRRE like 3 (Drosophila)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. Mutations in this gene are associated with mental retardation autosomal dominant type 4 (MRD4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:126423359-127003460
Strand Reverse strand
Band q24.2
Transcripts
ENST00000416561 ENSP00000408692
ENST00000525144 ENSP00000435466
ENST00000529097 ENSP00000434081
ENST00000526519
ENST00000532647
ENST00000525704 ENSP00000435094
ENST00000526764
ENST00000533026
ENST00000547738
ENST00000549874
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0030097 hemopoiesis
Cellular Component
GO:0005576 extracellular region
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Nephrin interactions pathway
Cell-Cell communication pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL B4DT91 E9PRX9
UniProt Splice Variant
Entrez Gene 84623
UniGene Hs.376015
RefSeq NM_001301097 XM_005271702 NM_001161707 NM_032531
HUGO HGNC:23204
OMIM 607761
CCDS CCDS73413 CCDS53723 CCDS55796
HPRD 09679
IMGT
EMBL AK300108 AP000741 AP000806 AP001783 AP002832 AP002833
GenPept BAG61903
RNA Seq Atlas 84623