SPP1

Chr 4

secreted phosphoprotein 1

Also known as: BNSP, BSPI, ETA-1, OPN

The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneReviewsOMIMResearchGenerating clinical summary…
4
Active trials
1225
Pubs (1 yr)
P/LP submissions
P/LP missense
1.59
LOEUF
Multiple*
Mechanism· predicted
📖
GeneReview available — SPP1
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.59LOEUF
pLI 0.000
Z-score 0.20
OE 0.93 (0.561.59)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.28Z-score
OE missense 0.94 (0.831.07)
166 obs / 176.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.93 (0.561.59)
00.351.4
Missense OE?0.94 (0.831.07)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 9 / 9.7Missense obs/exp: 166 / 176.5Syn Z: 0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPP1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.