GORASP2

Chr 2

golgi reassembly stacking protein 2

Also known as: GOLPH6, GRASP55, GRS2, p59

NCBI Gene: 26003 ENSG00000115806 UniProt: Q9H8Y8 OMIM: 608693

This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.38

Clinical Summary— GORASP2

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.88) — some intolerance to loss-of-function variants.

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ClinVar Variants

58 VUS of 82 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.38LOEUF

pLI 0.884

Z-score 3.55

OE 0.15 (0.07–0.38)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.59Z-score

OE missense 0.71 (0.63–0.81)

175 obs / 245.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.15 (0.07–0.38)

0≤0.351.4

Missense OE?0.71 (0.63–0.81)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 3 / 20.2Missense obs/exp: 175 / 245.2Syn Z: 0.44

ClinVar Variant Classifications

82 submitted variants in ClinVar

ClinVar

Classification Summary

VUS58

Likely Benign5

Benign4

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	58	0	0	58
Likely Benign	4	1	0	5
Benign	2	0	2	4
Total	64	1	2	67

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

20 pathogenic / likely-pathogenic (of 21) ClinVar copy-number / structural variants overlap GORASP2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →