SPP2 |
- 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)