• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SPP2 (HGNC:11256) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
secreted phosphoprotein 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
SPP24
%HI
87.97(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.89(Read more about gnomAD LOEUF score)
Cytoband
2q37.1
Genomic Coordinates
GRCh37/hg19: chr2:234959346-234985778 NCBI Ensembl UCSC
GRCh38/hg38: chr2:234050702-234077134 NCBI Ensembl UCSC
MANE Select Transcript
NM_006944.3 ENST00000168148.8 (Read more about MANE Select)
Function
Could coordinate an aspect of bone turnover. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19629
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/27/2019

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Neale 2012 (PMID 22495311) reviews exonic de novo mutations in patients with autism spectrum disorders. Supplementary table includes one small frameshift deletion in SPP2 but does not specify if this finding is de novo or loss of function. Lui 2015 (PMID 26459573) repored family with autosomal dominant retinitis pigmentosa. Mutation proposed to have dominant negative effect.

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)