KANK2 KN motif and ankyrin repeat domains 2
Gene ID: 25959, updated on 7-Apr-2024Gene type: protein coding
Also known as: SIP; MXRA3; PPKWH; NPHS16; ANKRD25
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- Go to complete Gene record for KANK2
- Go to Variation Viewer for KANK2 variants
Summary
This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. GeneReviews: Not available | |
| Nephrotic syndrome 16 | See labs |
| Wooly hair-palmoplantar keratoderma syndrome | See labs |
Genomic context
- Location:
- 19p13.2
- Sequence:
- Chromosome: 19; NC_000019.10 (11164270..11197865, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KANK2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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