• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
FAM20C (HGNC:22140) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
FAM20C golgi associated secretory pathway kinase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
IMAGE:4942737, DKFZp547D065, DMP4, G-CK
%HI
39.39(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.31(Read more about gnomAD pLI score)
LOEUF
0.49(Read more about gnomAD LOEUF score)
Cytoband
7p22.3
Genomic Coordinates
GRCh37/hg19: chr7:192571-300738 NCBI Ensembl UCSC
GRCh38/hg38: chr7:192571-260772 NCBI Ensembl UCSC
MANE Select Transcript
NM_020223.4 ENST00000313766.6 (Read more about MANE Select)
Function
Golgi serine/threonine protein kinase that phosphorylates secretory pathway proteins within Ser-x-Glu/pSer motifs and plays a key role in biomineralization of bones and teeth (PubMed:22582013, PubMed:23754375, PubMed:25789606). Constitutes the main protein kinase for extracellular proteins, generating the majority of the extracellular phosphoproteome (PubMed:26091039). Mainly phosphorylates proteins within the Ser-x-Glu/pSer motif, but also displays a broader substrate specificity (PubMed:260910... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-22850
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • lethal osteosclerotic bone dysplasia Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)