SP7

Chr 12AR

Sp7 transcription factor

Also known as: OI11, OI12, OSX, osterix

NCBI Gene: 121340 ENSG00000170374 UniProt: Q8TDD2 OMIM: 606633

This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein is a bone specific transcription factor and is required for osteoblast differentiation and bone formation.[provided by RefSeq, Jul 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Osteogenesis imperfecta, type XIIMIM #613849

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Osteogenesis imperfecta, type XII; no ClinGen or GenCC tier

Active trials

138

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SP7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

563 rare PASS variants

Rare truncating (LoF)

1 in 1,600

40 rare PASS variants

Rare synonymous (reference)

1 in 140

235 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SP7. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 150	1 in 2,600
South Asian	~43k	1 in 130	1 in 450
Remaining (unassigned)	~30k	1 in 130	1 in 1,100
European (Finnish)	~27k	1 in 380	1 in 2,900
Admixed American	~22k	1 in 120	≈ 1 in 22,000
African / African American	~21k	1 in 110	≈ 1 in 4,200
East Asian	~20k	1 in 97	1 in 2,200
Ashkenazi Jewish	~13k	1 in 320	1 in 650
Middle Eastern	~2,884	1 in 180	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 2 of 2 coding exons well covered in gnomAD exomes. Genomes: 1 of 2 (exon 2 below).? see exons ↓