GORASP2

Summary

GORASP2 (golgi reassembly stacking protein 2, HGNC:17500) is a protein-coding gene on chromosome 2q31.1, encoding Golgi reassembly-stacking protein 2 (Q9H8Y8). Key structural protein of the Golgi apparatus.

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.

Source: NCBI Gene 26003 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 82 total
• Druggable target: yes
• MANE Select transcript: NM_015530

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17500
Approved symbol	GORASP2
Name	golgi reassembly stacking protein 2
Location	2q31.1
Locus type	gene with protein product
Status	Approved
Aliases	GRASP55, GRS2, GOLPH6
Ensembl gene	ENSG00000115806
Ensembl biotype	protein_coding
OMIM	608693
Entrez	26003

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 12 protein_coding, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000234160, ENST00000442798, ENST00000444801, ENST00000454751, ENST00000455067, ENST00000471559, ENST00000486498, ENST00000488928, ENST00000493692, ENST00000497674, ENST00000497928, ENST00000871663, ENST00000871664, ENST00000871665, ENST00000871666, ENST00000871667, ENST00000871668, ENST00000871669, ENST00000917130, ENST00000972174, ENST00000972175, ENST00000972176

RefSeq mRNA: 2 — MANE Select: NM_015530 NM_001201428, NM_015530

CCDS: CCDS33325

Canonical transcript exons

ENST00000234160 — 10 exons

Exon	Start	End
ENSE00000882723	170965790	170967130
ENSE00001947947	170929253	170929403
ENSE00003474112	170950204	170950290
ENSE00003487200	170949539	170949742
ENSE00003491939	170948350	170948430
ENSE00003499588	170954650	170954782
ENSE00003575527	170956436	170956559
ENSE00003581581	170951328	170951458
ENSE00003585070	170961663	170961749
ENSE00003621429	170962839	170962946

Expression profiles

Bgee: expression breadth ubiquitous, 302 present calls, max score 99.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 82.6495 / max 1527.3907, expressed in 1827 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
23644	68.9743	1827
23645	5.6881	1757
23646	4.3353	1714
23647	1.2739	753
23643	1.1563	838
23641	0.5906	299
23642	0.5058	274
23640	0.0540	17
23638	0.0411	15
23639	0.0301	5

Top tissues by expression

303 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	99.08	gold quality
secondary oocyte	CL:0000655	98.84	gold quality
male germ cell	CL:0000015	98.31	gold quality
oocyte	CL:0000023	98.29	gold quality
endothelial cell	CL:0000115	98.11	gold quality
tibia	UBERON:0000979	98.05	gold quality
parotid gland	UBERON:0001831	97.66	gold quality
islet of Langerhans	UBERON:0000006	97.51	gold quality
esophagus squamous epithelium	UBERON:0006920	97.01	gold quality
stromal cell of endometrium	CL:0002255	97.00	gold quality
cartilage tissue	UBERON:0002418	96.57	gold quality
pancreas	UBERON:0001264	96.56	gold quality
epithelium of esophagus	UBERON:0001976	96.53	gold quality
corpus epididymis	UBERON:0004359	96.48	gold quality
palpebral conjunctiva	UBERON:0001812	96.43	gold quality
squamous epithelium	UBERON:0006914	96.43	gold quality
body of pancreas	UBERON:0001150	96.39	gold quality
placenta	UBERON:0001987	96.20	gold quality
caput epididymis	UBERON:0004358	96.14	gold quality
smooth muscle tissue	UBERON:0001135	96.13	gold quality
mucosa of sigmoid colon	UBERON:0004993	96.12	gold quality
rectum	UBERON:0001052	95.92	gold quality
pancreatic ductal cell	CL:0002079	95.90	gold quality
colonic mucosa	UBERON:0000317	95.88	gold quality
gingival epithelium	UBERON:0001949	95.88	gold quality
eye	UBERON:0000970	95.86	gold quality
pituitary gland	UBERON:0000007	95.82	gold quality
ileal mucosa	UBERON:0000331	95.82	gold quality
type B pancreatic cell	CL:0000169	95.67	gold quality
gingiva	UBERON:0001828	95.67	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.46

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

75 targeting GORASP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-137-3P	99.87	74.74	2401
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-12130	99.75	65.47	452
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-7844-5P	99.55	68.56	1428

Literature-anchored findings (GeneRIF, showing 22)

• GRASP55 forms an effector complex for the small GTPase rab2, together with a conserved coiled-coil protein golgin-45 (JEM-1). (PMID:11739401)
• GRASP65 is an important structural component required for maintenance of Golgi apparatus integrity (PMID:11815631)
• MEK1/ERK regulation of GRASP55-mediated Golgi linking is a control point in cell cycle progression (PMID:18434598)
• Data demonstrate that both GRASP55 and 65 are needed for the efficient transport to and through the Golgi complex, thus highlighting a novel role for the GRASPs in membrane trafficking. (PMID:19840934)
• These results demonstrate that GRASP55 and GRASP65 stack mammalian Golgi cisternae via a common mechanism. (PMID:20083603)
• GRASP55 may function as an adaptor protein coupling MT1-MMP with furin, thus leading to the activation of the zymogen. (PMID:20608975)
• propose that GRASP55/65 are negative regulators of exocytic transport and that this slowdown helps to ensure more complete protein glycosylation in the Golgi stack and proper sorting at the trans-Golgi network (PMID:23552074)
• Cisternal-specific functions of GRASP65 and GRASP55 in continuity, compartmentalization, and function of the Golgi ribbon. (PMID:24227884)
• GRASP55 interacts with CD83 shortly after induction of dendritic cells maturation. (PMID:25701785)
• binding site at the cleft between the PDZ1 and PDZ2 domains of GRASP65 is dominated by hydrophobic interactions with GM130 that are not observed in the GRASP55-Golgin45 complex (PMID:28049725)
• Results demonstrate a critical role for GRASP55 and GRASP65 in maintaining the stacked structure of the Golgi, which is required for accurate posttranslational modifications in the Golgi. Additionally, the GRASP knockout cell lines developed in this study will be useful tools for studying the role of GRASP proteins in other important cellular processes. (PMID:28814501)
• here we identified a novel GORASP2-ALK rearrangement in a patient with ALK + LBCL with a unique ALK immunohistochemical staining pattern. (PMID:30187817)
• GORASP2/GRASP55 collaborates with the PtdIns3K UVRAG complex to facilitate autophagosome-lysosome fusion. (PMID:30894053)
• structural aspects of the human Golgi matrix protein GRASP55 in solution (PMID:31102680)
• that SIRT2 regulates Golgi structure by modulating GRASP55 acetylation levels (PMID:31604796)
• Nucleation-dependent amyloid fibrillation of human GRASP55 in aqueous solution. (PMID:31915857)
• GRASP55: A Multifunctional Protein. (PMID:32067616)
• Rapid degradation of GRASP55 and GRASP65 reveals their immediate impact on the Golgi structure. (PMID:33301566)
• An mTORC1-GRASP55 signaling axis controls unconventional secretion to reshape the extracellular proteome upon stress. (PMID:34245671)
• GRASP55 regulates intra-Golgi localization of glycosylation enzymes to control glycosphingolipid biosynthesis. (PMID:34516001)
• GRASP depletion-mediated Golgi fragmentation impairs glycosaminoglycan synthesis, sulfation, and secretion. (PMID:35312866)
• Golgi Reassembly Stacking Protein 2 Modulates Myometrial Contractility during Labor by Affecting ATP Production. (PMID:37373263)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gorasp2	ENSDARG00000015126
mus_musculus	Gorasp2	ENSMUSG00000014959
rattus_norvegicus	Gorasp2	ENSRNOG00000023386
drosophila_melanogaster	Grasp65	FBGN0036919
caenorhabditis_elegans		WBGENE00021536

Paralogs (1): GORASP1 (ENSG00000114745)

Protein

Protein identifiers

Golgi reassembly-stacking protein 2 — Q9H8Y8 (reviewed: Q9H8Y8)

Alternative names: Golgi phosphoprotein 6, Golgi reassembly-stacking protein of 55 kDa, p59

All UniProt accessions (5): Q9H8Y8, F8WBR9, F8WEG2, F8WEH9, F8WF79

UniProt curated annotations — full annotation on UniProt →

Function. Key structural protein of the Golgi apparatus. The membrane cisternae of the Golgi apparatus adhere to each other to form stacks, which are aligned side by side to form the Golgi ribbon. Acting in concert with GORASP1/GRASP65, is required for the formation and maintenance of the Golgi ribbon, and may be dispensable for the formation of stacks. However, other studies suggest that GORASP2 plays a role in the assembly and membrane stacking of the Golgi cisternae, and in the process by which Golgi stacks reform after breakdown during mitosis and meiosis. May regulate the intracellular transport and presentation of a defined set of transmembrane proteins, such as transmembrane TGFA. Required for normal acrosome formation during spermiogenesis and normal male fertility, probably by promoting colocalization of JAM2 and JAM3 at contact sites between germ cells and Sertoli cells. Mediates ER stress-induced unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane.

Subunit / interactions. Homodimer. Homooligomer. ER stress induces phosphorylation-dependent monomerization. Interacts with BLZF1/Golgin 45. Identified in a complex with RAB2 and GORASP2. Interacts with JAM2 and JAM3. Interacts with members of the p24 cargo receptors. Interacts with CNIH1 and the cytoplasmic domain of transmembrane TGFA, prior its transit in the trans-Golgi. Interacts with KCTD5. Interacts with TMED2 and TMED3. Interacts with SEC16A in response to ER stress. Interacts (via PDZ GRASP-type 1 domain) with core-glycosylated CFTR in response to ER stress.

Subcellular location. Golgi apparatus membrane. Endoplasmic reticulum membrane. Golgi apparatus.

Post-translational modifications. Myristoylated. Myristoylation is essential for the Golgi targeting. Palmitoylated. Phosphorylated in mitotic cells. ER stress-induced phosphorylation at Ser-441 induces monomerization and subsequent relocalization from Golgi to ER which is essential for mediating unconventional (ER/Golgi-independent) trafficking of CFTR to the cell membrane.

Similarity. Belongs to the GORASP family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H8Y8-1	1	yes
Q9H8Y8-2	2
Q9H8Y8-3	3

RefSeq proteins (2): NP_001188357, NP_056345* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007583	GRASP55_65	Family
IPR024958	GRASP_PDZ	Domain
IPR036034	PDZ_sf	Homologous_superfamily

Pfam: PF04495

UniProt features (67 total): strand 14, mutagenesis site 13, modified residue 12, helix 6, turn 6, sequence conflict 4, region of interest 3, domain 2, splice variant 2, initiator methionine 1, chain 1, lipid moiety-binding region 1, sequence variant 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3RLE	X-RAY DIFFRACTION	1.65
4EDJ	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H8Y8-F1	65.69	0.34

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (13): 214, 222, 225, 409, 415, 433, 436, 441, 449, 451, 2, 30, 47

Mutagenesis-validated functional residues (13):

Position	Phenotype
2	abolishes myristoylation. loss of its ability to mediate unconventional (er/golgi-independent) trafficking of cftr to th
59	abolishes organelle clustering; when associated with s-100.
100	abolishes organelle clustering; when associated with a-59.
148	enhances homodimerization. loss of er stress-induced relocalization from golgi to er.
189	phosphomimetic mutation that decreases the ability to promote organelle clustering.
222	abolishes mitotic phosphorylation; when associated with a-225.
225	abolishes mitotic phosphorylation; when associated with a-222.
441	loss of phosphorylation and its ability to mediate unconventional (er/golgi-independent) trafficking of cftr to the cell
441	phosphomimetic mutant. no loss of its ability to mediate unconventional (er/golgi-independent) trafficking of cftr to th
449	loss of phosphorylation. does not inhibit er stress-mediated disruption of homodimerization.
449	phosphomimetic mutant. no disruption of homodimerization.
451	loss of phosphorylation. does not inhibit er stress-mediated disruption of homodimerization.
451	phosphomimetic mutant. partial disruption of homodimerization.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-162658	Golgi Cisternae Pericentriolar Stack Reorganization

MSigDB gene sets: 176 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, AP2_Q3, GOBP_MALE_GAMETE_GENERATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE, GOBP_ORGANELLE_ASSEMBLY, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, BYSTROEM_CORRELATED_WITH_IL5_UP, CAIRO_HEPATOBLASTOMA_UP, RYTTCCTG_ETS2_B, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, BOYAULT_LIVER_CANCER_SUBCLASS_G12_UP

GO Biological Process (8): response to unfolded protein (GO:0006986), organelle organization (GO:0006996), Golgi organization (GO:0007030), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), response to endoplasmic reticulum stress (GO:0034976), establishment of protein localization to plasma membrane (GO:0061951), organelle assembly (GO:0070925)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (6): Golgi membrane (GO:0000139), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), membrane (GO:0016020), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Mitotic Prophase	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	3
organelle organization	2
Golgi apparatus	2
cytoplasm	2
endomembrane system	2
response to topologically incorrect protein	1
cellular component organization	1
endomembrane system organization	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
cellular response to stress	1
establishment of protein localization to membrane	1
cellular component assembly	1
binding	1
bounding membrane of organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1822 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GORASP2	BLZF1	Q9H2G9	999
GORASP2	RAB2A	P08886	948
GORASP2	GOLGA2	Q08379	938
GORASP2	STX5	Q13190	689
GORASP2	GOLGA5	Q8TBA6	683
GORASP2	GOLGB1	Q14789	618
GORASP2	GCC2	Q8IWJ2	613
GORASP2	CFTR	P13569	612
GORASP2	RAB1A	P11476	606
GORASP2	TRIP11	Q15643	604
GORASP2	GOLGA3	Q08378	602
GORASP2	GOLPH3	Q9H4A6	596
GORASP2	GOSR1	O95249	590
GORASP2	USO1	O60763	587
GORASP2	GOLGA1	Q92805	571

IntAct

1084 interactions, top by confidence:

A	B	Type	Score
GORASP2	GOLGA2	psi-mi:“MI:0915”(physical association)	0.880
GORASP2	ACY3	psi-mi:“MI:0915”(physical association)	0.870
GORASP2	TRAF2	psi-mi:“MI:0915”(physical association)	0.870
ACY3	GORASP2	psi-mi:“MI:0915”(physical association)	0.870
TRAF2	GORASP2	psi-mi:“MI:0915”(physical association)	0.870
CRYAA	GORASP2	psi-mi:“MI:0915”(physical association)	0.840
GORASP2	CRYAA	psi-mi:“MI:0915”(physical association)	0.840
RPIA	GORASP2	psi-mi:“MI:0915”(physical association)	0.830
GORASP2	CBLB	psi-mi:“MI:0915”(physical association)	0.830
GORASP2	EIF2B1	psi-mi:“MI:0915”(physical association)	0.830
DPYSL2	GORASP2	psi-mi:“MI:0915”(physical association)	0.830
GORASP2	DPYSL2	psi-mi:“MI:0915”(physical association)	0.830
GORASP2	RPIA	psi-mi:“MI:0915”(physical association)	0.830

BioGRID (560): GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid), GORASP2 (Two-hybrid)

ESM2 similar proteins: A3LXQ8, A5E032, A7TJM4, A8WSU9, G5EDY0, G5EFD2, H2KZB2, O13965, O14111, O14302, O14306, O43150, P35056, P36629, P38426, P40343, P41412, P87143, Q04410, Q07622, Q09459, Q09731, Q10149, Q16YA8, Q1AAU6, Q22006, Q22638, Q4P3S3, Q54WZ5, Q5A7Q2, Q5AL52, Q6BMD1, Q6CL17, Q6FKP2, Q6FQJ1, Q755J9, Q7JRE4, Q7SIG6, Q8H106, Q95RG8

Diamond homologs: O35254, Q04410, Q10149, Q91X51, Q99JX3, Q9BQQ3, Q9H8Y8, Q9R064

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MAPK1	unknown	GORASP2	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

82 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	5
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1615 predictions. Top by Δscore:

Variant	Effect	Δscore
2:170948344:CCGCA:C	acceptor_loss	1.0000
2:170948345:CGCA:C	acceptor_loss	1.0000
2:170948346:GCAGG:G	acceptor_loss	1.0000
2:170948347:CA:C	acceptor_loss	1.0000
2:170948348:A:G	acceptor_loss	1.0000
2:170948421:TTC:T	donor_gain	1.0000
2:170948426:GATTA:G	donor_gain	1.0000
2:170948427:A:G	donor_gain	1.0000
2:170948427:ATTA:A	donor_gain	1.0000
2:170948428:TTA:T	donor_gain	1.0000
2:170948431:G:GG	donor_gain	1.0000
2:170949535:ACAGA:A	acceptor_loss	1.0000
2:170949536:CAG:C	acceptor_loss	1.0000
2:170949537:A:AC	acceptor_loss	1.0000
2:170949537:A:AG	acceptor_gain	1.0000
2:170949538:G:GA	acceptor_gain	1.0000
2:170949538:GA:G	acceptor_gain	1.0000
2:170949538:GAA:G	acceptor_gain	1.0000
2:170949538:GAAT:G	acceptor_gain	1.0000
2:170949538:GAATA:G	acceptor_gain	1.0000
2:170949683:G:GT	donor_gain	1.0000
2:170949744:TACG:T	donor_loss	1.0000
2:170950200:CTAG:C	acceptor_loss	1.0000
2:170950201:TAG:T	acceptor_loss	1.0000
2:170950203:G:GT	acceptor_loss	1.0000
2:170950286:ATGAG:A	donor_loss	1.0000
2:170950287:TGAGG:T	donor_loss	1.0000
2:170950289:AGG:A	donor_loss	1.0000
2:170950290:GG:G	donor_loss	1.0000
2:170951312:T:TA	acceptor_gain	1.0000

AlphaMissense

2884 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:170929386:G:C	G16R	1.000
2:170929387:G:A	G16D	1.000
2:170929389:T:C	Y17H	1.000
2:170929389:T:G	Y17D	1.000
2:170929392:C:G	H18D	1.000
2:170929396:T:A	V19D	1.000
2:170929399:T:C	L20P	1.000
2:170948363:C:T	S26F	1.000
2:170948366:C:A	P27Q	1.000
2:170948368:G:A	G28R	1.000
2:170948368:G:C	G28R	1.000
2:170948369:G:A	G28E	1.000
2:170948384:T:C	L33S	1.000
2:170948392:T:C	F36L	1.000
2:170948394:C:A	F36L	1.000
2:170948394:C:G	F36L	1.000
2:170948395:T:C	F37L	1.000
2:170948397:T:A	F37L	1.000
2:170948397:T:G	F37L	1.000
2:170948399:A:C	D38A	1.000
2:170948399:A:T	D38V	1.000
2:170948401:T:C	F39L	1.000
2:170948402:T:C	F39S	1.000
2:170948403:T:A	F39L	1.000
2:170948403:T:G	F39L	1.000
2:170948405:T:A	I40N	1.000
2:170948408:T:A	V41D	1.000
2:170948410:T:C	S42P	1.000
2:170948429:T:C	L48S	1.000
2:170949570:T:C	L59P	1.000

dbSNP variants (sampled 300 via entrez): RS1000094863 (2:170958064 G>A), RS1000097663 (2:170959802 T>TGCAGTGTA), RS1000157002 (2:170933331 G>A,T), RS1000250333 (2:170942419 C>G), RS1000364470 (2:170964073 T>C), RS1000439777 (2:170950954 C>A), RS1000522272 (2:170940399 C>G), RS1000522405 (2:170945851 T>C), RS1000637860 (2:170948510 G>A,T), RS1000743003 (2:170946184 T>C), RS1000849319 (2:170927512 G>A,C), RS1000897368 (2:170953126 C>T), RS1001042006 (2:170952536 T>C), RS1001062391 (2:170959108 A>C,G), RS1001088242 (2:170938942 G>A)

Disease associations

OMIM: gene MIM:608693 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000477_50	Cognitive performance	1.000000e-06
GCST012466_1	Autism spectrum disorder	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5483010 (PROTEIN COMPLEX)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

51 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects expression, decreases expression	3
bisphenol S	affects expression, decreases methylation, increases expression	3
sodium arsenite	increases abundance, increases expression	2
Air Pollutants	affects cotreatment, decreases expression, increases abundance, increases oxidation, affects expression	2
Ozone	affects cotreatment, decreases expression, increases oxidation, increases abundance, affects expression	2
Cyclosporine	decreases methylation, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
alpha-pinene	affects cotreatment, decreases expression, increases oxidation, increases abundance	1
decabromobiphenyl ether	decreases expression	1
beta-lapachone	increases expression, decreases expression	1
arsenite	affects binding, increases reaction	1
methylparaben	affects cotreatment, affects expression	1
mono-(2-ethylhexyl)phthalate	affects cotreatment, decreases expression	1
tetrabromobisphenol A	decreases expression	1
monobutyl phthalate	affects cotreatment, decreases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	increases abundance, affects cotreatment, decreases expression, increases oxidation	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
2-ethyl-5-carboxypentyl phthalate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
mono(2-ethyl-5-oxohexyl)phthalate	affects cotreatment, decreases expression	1
mono-benzyl phthalate	affects cotreatment, decreases expression, affects expression	1
mono(2-ethyl-5-hydroxyhexyl) phthalate	affects cotreatment, decreases expression, affects expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
1-(4-(6-bromobenzo(1,3)dioxol-5-yl)-3a,4,5,9b-tetrahydro-3H-cyclopenta(c)quinolin-8-yl)ethanone	decreases phosphorylation	1
mono-isobutyl phthalate	affects cotreatment, decreases expression, affects expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5383469	Binding	Inhibition of N-terminal GST-tagged GRASP55 (unknown origin) expressed in Escherichia coli BL21 (DE3) cells/JAM-B (unknown origin) complex incubated for 16 hrs by HTRF assay	Discovery of a PDZ Domain Inhibitor Targeting the Syndecan/Syntenin Protein-Protein Interaction: A Semi-Automated “Hit Identification-to-Optimization” Approach. — J Med Chem

Cellosaurus cell lines

5 cell lines: 3 transformed cell line, 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9FQ	Ubigene HEK293 GORASP2 KO	Transformed cell line	Female
CVCL_E3WL	HEK293 GRASP55 KO	Transformed cell line	Female
CVCL_E3WM	HEK293 GRASP55/GRASP65 DKO	Transformed cell line	Female
CVCL_E3WP	HeLa GRASP55 KO	Cancer cell line	Female
CVCL_E3WQ	HeLa GRASP55/GRASP65 DKO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.