KANK1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
KANK1 (HGNC:19309) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
KN motif and ankyrin repeat domains 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ANKRD15
Alias symbols
KIAA0172, KANK
%HI
49.74(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.15(Read more about gnomAD LOEUF score)
Cytoband
9p24.3
Genomic Coordinates
GRCh37/hg19: chr9:470295-746103 NCBI Ensembl UCSC
GRCh38/hg38: chr9:470295-746103 NCBI Ensembl UCSC
MANE Select Transcript
NM_015158.5 ENST00000382297.7 (Read more about MANE Select)
Function
Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration (PubMed:25961457). Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competitive interaction with 14-3-3 adapter proteins to sequester them from active complexes (PubMed:25961457). Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competitive interaction with B... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27041
ClinGen Curation ID:
CCID:007344
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/28/2016

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Some evidence has been presented in the medical literature suggesting that KANK1 deletion is associated with a clinical phenotype. PMID:16301218 described a 225Kb pure deletion of KANK1 that was associated with cerebral palsy and mental retardation in children of male carriers in a four generation family. The pattern was suggestive of maternal imprinting. Repression of expression of the KANK1 protein, ANKRD15, appeared to be linked to the methylation status of CpG islands near DMRT1, a gene centromeric to KANK1. In a later report (PMID 23454270), a familial, inherited deletion of KANK1 was described in which the proband had several phenotypic features in common with the previously reported deletion family. However, the family included an unaffected individual with a paternally inherited deletion. Indirect evidence was presented that suggested deletion involving the A isoform (short form, centromeric side) might be more clinically relevant than deletions affecting the B isoform alone. The authors suggested that the mechanism of inheritance for KANK1 associated mental retardation needs further study. A 2016 paper (PMID: 26656975) proposed that KANK1 as well as the neighbouring gene, DOCK8 may be subject to genetic and/or epigenetic modifiers and random, monoallelic gene expression as an explanation for lack of consistency in inheritance patterns and clinical phenotypes.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)