ITGA10

Chr 1

integrin subunit alpha 10

Also known as: PRO827

NCBI Gene: 8515 ENSG00000143127 UniProt: O75578 OMIM: 604042

Integrins are integral transmembrane glycoproteins composed of noncovalently linked alpha and beta chains. They participate in cell adhesion as well as cell-surface mediated signalling. This gene encodes an integrin alpha chain and is expressed at high levels in chondrocytes, where it is transcriptionally regulated by AP-2epsilon and Ets-1. The protein encoded by this gene binds to collagen. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.79

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.79LOEUF

pLI 0.000

Z-score 3.01

OE 0.61 (0.47–0.79)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.88Z-score

OE missense 0.90 (0.84–0.97)

587 obs / 650.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.61 (0.47–0.79)

0≤0.351.4

Missense OE?0.90 (0.84–0.97)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 41 / 67.8Missense obs/exp: 587 / 650.2Syn Z: 0.86

Background carrier burden — how many people carry a rare variant somewhere in ITGA10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 38

1,419 rare PASS variants

Rare truncating (LoF)

1 in 250

250 rare PASS variants

Rare synonymous (reference)

1 in 110

542 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ITGA10. 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 58	1 in 320
South Asian	~43k	1 in 37	1 in 250
Remaining (unassigned)	~30k	1 in 33	1 in 350
European (Finnish)	~27k	1 in 110	1 in 760
Admixed American	~22k	1 in 37	1 in 310
African / African American	~21k	1 in 35	1 in 410
East Asian	~20k	1 in 46	1 in 440
Ashkenazi Jewish	~13k	1 in 120	1 in 590
Middle Eastern	~2,884	1 in 32	≈ 1 in 960

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): All 30 coding exons well covered in gnomAD exomes and genomes.? see exons ↓