PTPRZ1

Chr 7

protein tyrosine phosphatase receptor type Z1

Also known as: HPTPZ, HPTPzeta, PTP-ZETA, PTP18, PTPRZ, PTPZ, R-PTP-zeta-2, RPTPB

NCBI Gene: 5803ENSG00000106278UniProt: P23471

This gene encodes a member of the receptor protein tyrosine phosphatase family. Expression of this gene is restricted to the central nervous system (CNS), and it may be involved in the regulation of specific developmental processes in the CNS. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
1
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.29
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.29LOEUF
pLI 0.990
Z-score 7.22
OE 0.19 (0.13–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.85Z-score
OE missense 0.93 (0.89–0.98)
1103 obs / 1185.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.19 (0.13–0.29)
0≤0.351.4
Missense OE?0.93 (0.89–0.98)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 18 / 93.2Missense obs/exp: 1103 / 1185.6Syn Z: 1.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PTPRZ1 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients