GOLGA8O

Summary

GOLGA8O (golgin A8 family member O, HGNC:44406) is a protein-coding gene on chromosome 15q13.3, encoding Golgin subfamily A member 8O (A6NCC3).

Predicted to be involved in Golgi organization. Predicted to be located in Golgi apparatus. Predicted to be active in Golgi cis cisterna; Golgi cisterna membrane; and cis-Golgi network.

Source: NCBI Gene 728047 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total — 1 pathogenic
• MANE Select transcript: NM_001277308

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44406
Approved symbol	GOLGA8O
Name	golgin A8 family member O
Location	15q13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000206127
Ensembl biotype	protein_coding
Entrez	728047

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000509311, ENST00000562377

RefSeq mRNA: 1 — MANE Select: NM_001277308 NM_001277308

CCDS: CCDS59252

Canonical transcript exons

ENST00000509311 — 19 exons

Exon	Start	End
ENSE00001621359	32452491	32452571
ENSE00001626987	32445618	32445715
ENSE00001673477	32445798	32445898
ENSE00001674539	32448642	32448898
ENSE00001684604	32445367	32445522
ENSE00001723615	32452753	32452812
ENSE00001724568	32449275	32449362
ENSE00001784968	32453703	32453822
ENSE00001798685	32446474	32446565
ENSE00001863144	32449558	32449665
ENSE00001954711	32448318	32448386
ENSE00002022204	32451601	32451639
ENSE00002042831	32450913	32451022
ENSE00002054743	32451291	32451338
ENSE00002060502	32449772	32449858
ENSE00002080221	32451118	32451202
ENSE00002082970	32446997	32447072
ENSE00002318040	32455489	32455634
ENSE00002612180	32441914	32445281

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 93.48.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	93.48	gold quality
thyroid gland	UBERON:0002046	92.28	gold quality
left lobe of thyroid gland	UBERON:0001120	92.18	gold quality
granulocyte	CL:0000094	86.59	gold quality
bone marrow	UBERON:0002371	85.69	gold quality
left testis	UBERON:0004533	85.24	gold quality
right testis	UBERON:0004534	84.85	gold quality
testis	UBERON:0000473	84.24	gold quality
bone marrow cell	CL:0002092	84.03	gold quality
pituitary gland	UBERON:0000007	83.70	gold quality
body of pancreas	UBERON:0001150	83.62	gold quality
endometrium	UBERON:0001295	83.34	gold quality
left ovary	UBERON:0002119	83.32	gold quality
right ovary	UBERON:0002118	82.87	gold quality
sural nerve	UBERON:0015488	82.79	gold quality
adenohypophysis	UBERON:0002196	82.62	gold quality
right coronary artery	UBERON:0001625	82.49	gold quality
ovary	UBERON:0000992	82.08	gold quality
ascending aorta	UBERON:0001496	81.51	gold quality
thoracic aorta	UBERON:0001515	81.39	gold quality
popliteal artery	UBERON:0002250	80.93	gold quality
tibial artery	UBERON:0007610	80.93	gold quality
left coronary artery	UBERON:0001626	80.84	gold quality
descending thoracic aorta	UBERON:0002345	80.75	gold quality
mucosa of stomach	UBERON:0001199	80.68	gold quality
subcutaneous adipose tissue	UBERON:0002190	79.75	gold quality
apex of heart	UBERON:0002098	79.73	gold quality
right lobe of liver	UBERON:0001114	79.71	gold quality
adipose tissue	UBERON:0001013	79.60	gold quality
tibial nerve	UBERON:0001323	79.54	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.60

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

110 targeting GOLGA8O, 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-4262	100.00	73.26	3931
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	golga2	ENSDARG00000063197
mus_musculus	Golga2	ENSMUSG00000002546
rattus_norvegicus	Golga2l1	ENSRNOG00000050262
drosophila_melanogaster	GM130	FBGN0034697
caenorhabditis_elegans		WBGENE00018017

Paralogs (18): GOLGA6D (ENSG00000140478), GOLGA8F (ENSG00000153684), GOLGA6A (ENSG00000159289), GOLGA2 (ENSG00000167110), GOLGA6C (ENSG00000167195), GOLGA8A (ENSG00000175265), GOLGA8Q (ENSG00000178115), GOLGA8J (ENSG00000179938), GOLGA8G (ENSG00000183629), GOLGA8R (ENSG00000186399), GOLGA8M (ENSG00000188626), GOLGA6B (ENSG00000215186), GOLGA8B (ENSG00000215252), GOLGA8N (ENSG00000232653), GOLGA8K (ENSG00000249931), GOLGA8T (ENSG00000261247), GOLGA8S (ENSG00000261739), GOLGA8H (ENSG00000261794)

Protein

Protein identifiers

Golgin subfamily A member 8O — A6NCC3 (reviewed: A6NCC3)

All UniProt accessions (2): A6NCC3, H3BSI0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA6 family.

Isoforms (2)

UniProt ID	Names	Canonical?
A6NCC3-2	1	yes
A6NCC3-1	2

RefSeq proteins (1): NP_001264237* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024858	GOLGA	Family
IPR043937	GOLGA_C	Conserved_site
IPR043976	GOLGA_cons_dom	Domain

Pfam: PF15070, PF19046

UniProt features (14 total): region of interest 4, compositionally biased region 4, splice variant 3, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NCC3-F1	71.07	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 15 (showing top): chr15q13, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_GOLGI_ORGANIZATION, GOCC_GOLGI_STACK, GOCC_GOLGI_CISTERNA, GOCC_CIS_GOLGI_NETWORK, GOCC_GOLGI_CISTERNA_MEMBRANE, GOCC_ORGANELLE_SUBCOMPARTMENT, GOCC_GOLGI_CIS_CISTERNA, WP_15Q133_COPY_NUMBER_VARIATION_SYNDROME, GOCC_GOLGI_APPARATUS_SUBCOMPARTMENT, OSMAN_BLOOD_CHAD63_KH_AGE_18_50YO_HIGH_DOSE_SUBJECTS_24HR_DN, HOEK_B_CELL_2011_2012_TIV_ADULT_7DY_UP, WP_15Q11Q13_COPY_NUMBER_VARIATION, GOCC_GOLGI_APPARATUS

GO Biological Process (1): Golgi organization (GO:0007030)

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

GO Cellular Component (4): Golgi cis cisterna (GO:0000137), cis-Golgi network (GO:0005801), Golgi cisterna membrane (GO:0032580), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
Golgi cisterna	2
intracellular membrane-bounded organelle	2
organelle organization	1
endomembrane system organization	1
binding	1
Golgi apparatus	1
organelle membrane	1
cytoplasm	1
endomembrane system	1

Protein interactions and networks

STRING

300 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA8O	GTF3C6	Q969F1	542
GOLGA8O	GTF3C5	Q9Y5Q8	474
GOLGA8O	TRMT5	Q32P41	419
GOLGA8O	GPHRA	B7ZAQ6	418
GOLGA8O	CCDC82	Q8N4S0	404
GOLGA8O	MBD3L5	A6NJ08	400
GOLGA8O	VN1R1	Q9GZP7	396
GOLGA8O	PCYT2	Q99447	375
GOLGA8O	TRMT6	Q9UJA5	374
GOLGA8O	KCTD14	Q9BQ13	368
GOLGA8O	TMED2	Q15363	367
GOLGA8O	DHX38	Q92620	367
GOLGA8O	COMMD2	Q86X83	366
GOLGA8O	RAPGEFL1	Q9UHV5	357
GOLGA8O	TMED10	P49755	348
GOLGA8O	COG7	P83436	348

IntAct

5 interactions, top by confidence:

A	B	Type	Score
GOLGA8O		psi-mi:“MI:0915”(physical association)	0.370
	GOLGA8O	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (5): GOLGA8O (Synthetic Lethality), GOLGA8O (Affinity Capture-MS), GOLGA8O (Affinity Capture-MS), GOLGA8O (Affinity Capture-MS), GOLGA8O (Proximity Label-MS)

ESM2 similar proteins: A2AHC3, A2AMT1, A6NCC3, A6NN73, D3Z8E6, D6RF30, E7F5E1, H3BPF8, H3BQL2, H3BSY2, O15061, O35668, P0DX52, P0DX53, P53814, P54256, P54257, P62025, P97434, Q02435, Q06002, Q06637, Q0D2H9, Q0VF96, Q12934, Q3UHU5, Q3V0F0, Q5DU05, Q5T5Y3, Q5TF21, Q60664, Q62627, Q63312, Q6AW69, Q6NZL0, Q6PHN1, Q6WCQ1, Q70IV5, Q80VC9, Q80Y56

Diamond homologs: A0A1B0GV03, A1IH00, A6NC78, A6NCC3, A6NDK9, A6NDN3, A6NEF3, A6NEM1, A6NI86, A6NN73, A7E2F4, A8MQT2, A8MZA4, F8WBI6, H0YKK7, H0YM25, H3BPF8, H3BSY2, H3BV12, I6L899, P0CG33, P0CJ92, P0DX00, P0DX01, P0DX02, P0DX52, P0DX53, Q08379, Q62839, Q8N7Z2, Q8N9W4, Q921M4, Q9NYA3, A6NMD2, D6RF30, H3BQL2, Q0D2H9, Q9HBQ8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
685306	GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3	Pathogenic

SpliceAI

2630 predictions. Top by Δscore:

Variant	Effect	Δscore
15:32445282:C:CC	acceptor_gain	1.0000
15:32445364:CAC:C	donor_loss	1.0000
15:32445365:A:AC	donor_gain	1.0000
15:32445365:AC:A	donor_gain	1.0000
15:32445365:ACCAC:A	donor_gain	1.0000
15:32445366:C:CA	donor_loss	1.0000
15:32445366:C:CC	donor_gain	1.0000
15:32445366:CC:C	donor_gain	1.0000
15:32445366:CCA:C	donor_gain	1.0000
15:32445366:CCACC:C	donor_gain	1.0000
15:32445518:TTCAC:T	acceptor_gain	1.0000
15:32445519:TCAC:T	acceptor_gain	1.0000
15:32445520:CAC:C	acceptor_gain	1.0000
15:32445520:CACC:C	acceptor_gain	1.0000
15:32445521:AC:A	acceptor_gain	1.0000
15:32445522:CC:C	acceptor_gain	1.0000
15:32445523:C:CC	acceptor_gain	1.0000
15:32445615:TA:T	donor_loss	1.0000
15:32445616:A:AC	donor_gain	1.0000
15:32445616:A:AT	donor_loss	1.0000
15:32445617:C:A	donor_loss	1.0000
15:32445617:C:CC	donor_gain	1.0000
15:32445617:CCTT:C	donor_gain	1.0000
15:32445629:C:CA	donor_gain	1.0000
15:32445711:TTTTC:T	acceptor_gain	1.0000
15:32445712:TTTC:T	acceptor_gain	1.0000
15:32445713:TTC:T	acceptor_gain	1.0000
15:32445714:TCCTG:T	acceptor_loss	1.0000
15:32445715:CCTG:C	acceptor_loss	1.0000
15:32445716:C:CC	acceptor_gain	1.0000

AlphaMissense

4163 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:32448808:A:G	L322P	0.889
15:32455500:C:G	A13P	0.851
15:32448829:A:G	L315P	0.845
15:32445452:G:C	F546L	0.836
15:32445452:G:T	F546L	0.836
15:32445454:A:G	F546L	0.836
15:32448841:A:G	L311P	0.833
15:32455495:C:A	K14N	0.818
15:32455495:C:G	K14N	0.818
15:32449310:A:G	L280P	0.817
15:32452513:A:G	L96P	0.815
15:32449588:C:A	W252C	0.801
15:32449588:C:G	W252C	0.801
15:32449590:A:G	W252R	0.796
15:32449590:A:T	W252R	0.796
15:32445827:G:C	F480L	0.791
15:32445827:G:T	F480L	0.791
15:32445829:A:G	F480L	0.791
15:32452492:A:G	L103S	0.784
15:32453817:T:A	K18N	0.784
15:32453817:T:G	K18N	0.784
15:32451195:A:G	I135T	0.783
15:32453821:A:G	L17S	0.783
15:32451608:A:G	L114P	0.767
15:32451165:A:G	L145P	0.747
15:32453812:T:G	Y20S	0.736
15:32448651:G:C	F374L	0.732
15:32448651:G:T	F374L	0.732
15:32448653:A:G	F374L	0.732
15:32455499:G:T	A13D	0.730

dbSNP variants (sampled 300 via entrez): RS1001096553 (15:32451288 C>G), RS1001694363 (15:32457286 A>G), RS1002026334 (15:32451138 C>T), RS1002268384 (15:32449954 T>C), RS1005056294 (15:32454567 G>C), RS1005375093 (15:32442172 A>C), RS1005456243 (15:32453519 T>G), RS1005798200 (15:32449879 A>T), RS1008094509 (15:30400202 T>A,G), RS1008724592 (15:32462497 A>G), RS1009626626 (15:32451467 G>A,C), RS1009985918 (15:32451229 T>C), RS1013259138 (15:32458282 A>G), RS1013726987 (15:32459135 A>C), RS1014997963 (15:32459672 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, decreases reaction	1
gallium arsenide	decreases expression	1
Lipopolysaccharides	decreases expression, decreases reaction	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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