TAMALIN

Chr 12

trafficking regulator and scaffold protein tamalin

Also known as: GRASP

NCBI Gene: 160622ENSG00000161835UniProt: Q7Z6J2

This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]

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.
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.39
LOEUF
Multiple*
Mechanism· predicted
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?
0.39LOEUF
pLI 0.901
Z-score 3.28
OE 0.12 (0.05–0.39)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.49Z-score
OE missense 0.68 (0.58–0.79)
117 obs / 172.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.12 (0.05–0.39)
0≤0.351.4
Missense OE?0.68 (0.58–0.79)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 2 / 16.3Missense obs/exp: 117 / 172.2Syn Z: 0.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TAMALIN · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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