FAM20C |
- 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)