GOLGA8A

Summary

GOLGA8A (golgin A8 family member A, HGNC:31972) is a protein-coding gene on chromosome 15q14, encoding Golgin subfamily A member 8A (A7E2F4). May be involved in maintaining Golgi structure.

The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 23015 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_181077

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31972
Approved symbol	GOLGA8A
Name	golgin A8 family member A
Location	15q14
Locus type	gene with protein product
Status	Approved
Aliases	GM88, GOLGIN-67, FAP286, CFAP286
Ensembl gene	ENSG00000175265
Ensembl biotype	protein_coding
OMIM	616180
Entrez	23015

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000359187, ENST00000473125, ENST00000565885, ENST00000569781, ENST00000699472, ENST00000914783, ENST00000914784, ENST00000914785, ENST00000914786, ENST00000914787, ENST00000914788, ENST00000956061, ENST00000956062

RefSeq mRNA: 5 — MANE Select: NM_181077 NM_001368071, NM_001368072, NM_001386893, NM_001386895, NM_181077

CCDS: CCDS10038, CCDS91979

Canonical transcript exons

ENST00000359187 — 25 exons

Exon	Start	End
ENSE00001611349	34398634	34398729
ENSE00001643464	34400712	34400759
ENSE00001681077	34404917	34405055
ENSE00001694503	34386625	34386741
ENSE00001726306	34406674	34406870
ENSE00001740553	34399155	34399203
ENSE00001757442	34387833	34387952
ENSE00002579262	34407524	34407735
ENSE00002599374	34435383	34435471
ENSE00002618553	34389644	34389768
ENSE00003474663	34383441	34383528
ENSE00003477839	34383961	34384047
ENSE00003531418	34385427	34385474
ENSE00003534225	34383746	34383853
ENSE00003557566	34381701	34381856
ENSE00003607108	34385254	34385338
ENSE00003610489	34382151	34382251
ENSE00003615564	34382797	34383053
ENSE00003658292	34381968	34382068
ENSE00003664839	34385740	34385778
ENSE00003685684	34385048	34385157
ENSE00003918530	34391123	34391426
ENSE00003976692	34437398	34437808
ENSE00003976693	34379068	34381613
ENSE00003976694	34382386	34382529

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.21.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.4654 / max 1942.4573, expressed in 1509 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149255	22.4253	1501
149262	2.4310	894
149254	0.6832	349
149256	0.3568	191

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	99.21	gold quality
left lobe of thyroid gland	UBERON:0001120	99.00	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.00	gold quality
cerebellar cortex	UBERON:0002129	98.98	gold quality
cerebellar hemisphere	UBERON:0002245	98.98	gold quality
right lobe of thyroid gland	UBERON:0001119	98.97	gold quality
cerebellum	UBERON:0002037	98.82	gold quality
thyroid gland	UBERON:0002046	98.78	gold quality
left ovary	UBERON:0002119	98.59	gold quality
cerebellar vermis	UBERON:0004720	98.59	gold quality
right ovary	UBERON:0002118	98.46	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.23	gold quality
sperm	CL:0000019	98.21	gold quality
skin of hip	UBERON:0001554	98.19	gold quality
corpus epididymis	UBERON:0004359	97.96	gold quality
tibia	UBERON:0000979	97.91	gold quality
right uterine tube	UBERON:0001302	97.91	gold quality
middle temporal gyrus	UBERON:0002771	97.91	gold quality
male germ cell	CL:0000015	97.85	gold quality
endocervix	UBERON:0000458	97.82	gold quality
mucosa of stomach	UBERON:0001199	97.81	gold quality
upper leg skin	UBERON:0004262	97.80	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.77	gold quality
body of uterus	UBERON:0009853	97.75	gold quality
germinal epithelium of ovary	UBERON:0001304	97.58	gold quality
caput epididymis	UBERON:0004358	97.52	gold quality
seminal vesicle	UBERON:0000998	97.49	gold quality
ectocervix	UBERON:0012249	97.28	gold quality
ovary	UBERON:0000992	97.25	gold quality
right testis	UBERON:0004534	97.22	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	600.26
E-MTAB-8410	yes	20.43
E-ANND-3	yes	13.84
E-GEOD-137537	yes	9.83
E-MTAB-6701	yes	9.02
E-MTAB-6678	yes	7.29
E-GEOD-130148	yes	6.74
E-GEOD-150728	no	634.85
E-GEOD-76312	no	257.38

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The microarray analysis and the validation study revealed an increase in Golgin A8 Family, Member A (GOLGA8A) mRNA and protein levels in Intracerebral hemorrhage. (PMID:26738811)

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), GOLGA8Q (ENSG00000178115), GOLGA8J (ENSG00000179938), GOLGA8G (ENSG00000183629), GOLGA8R (ENSG00000186399), GOLGA8M (ENSG00000188626), GOLGA8O (ENSG00000206127), GOLGA6B (ENSG00000215186), GOLGA8B (ENSG00000215252), GOLGA8N (ENSG00000232653), GOLGA8K (ENSG00000249931), GOLGA8T (ENSG00000261247), GOLGA8S (ENSG00000261739), GOLGA8H (ENSG00000261794)

Protein

Protein identifiers

Golgin subfamily A member 8A — A7E2F4 (reviewed: A7E2F4)

Alternative names: 88 kDa Golgi matrix protein, GM88 autoantigen

All UniProt accessions (2): A0A8V8TPN8, A7E2F4

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in maintaining Golgi structure.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Similarity. Belongs to the GOLGA8 family.

Isoforms (2)

UniProt ID	Names	Canonical?
A7E2F4-1	1	yes
A7E2F4-3	2

RefSeq proteins (5): NP_001355000, NP_001355001, NP_001373822, NP_001373824, NP_851422* (*=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 (20 total): region of interest 5, compositionally biased region 5, sequence conflict 4, sequence variant 3, chain 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A7E2F4-F1	68.18	0.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 157 (showing top): VALK_AML_WITH_FLT3_ITD, WENDT_COHESIN_TARGETS_UP, chr15q14, TGIF_01, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, VALK_AML_CLUSTER_2, KIM_GASTRIC_CANCER_CHEMOSENSITIVITY, BASAKI_YBX1_TARGETS_DN, MODULE_6, AACTGGA_MIR145, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN, GOBP_GOLGI_ORGANIZATION, GOCC_GOLGI_STACK

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

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

GO Cellular Component (6): Golgi cis cisterna (GO:0000137), Golgi apparatus (GO:0005794), cis-Golgi network (GO:0005801), cytosol (GO:0005829), Golgi cisterna membrane (GO:0032580), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

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

Protein interactions and networks

STRING

470 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA8A	GOLGA3	Q08378	617
GOLGA8A	GOLGA1	Q92805	583
GOLGA8A	GOLGA4	Q13439	565
GOLGA8A	GOLGB1	Q14789	558
GOLGA8A	KRTAP4-5	Q9BYR2	445
GOLGA8A	GOLGA5	Q8TBA6	409
GOLGA8A	RIMBP3	Q9UFD9	359
GOLGA8A	GOLGA2	Q08379	351
GOLGA8A	ANKRD36B	Q8N2N9	325
GOLGA8A	USO1	O60763	322
GOLGA8A	GJD2	Q9UKL4	305
GOLGA8A	LDLRAD2	Q5SZI1	305
GOLGA8A	C17orf58	Q2M2W7	302
GOLGA8A	TMEM273	Q5T292	298
GOLGA8A	RGPD5	Q99666	290
GOLGA8A	CHRFAM7A	Q494W8	290

IntAct

6 interactions, top by confidence:

A	B	Type	Score
GOLGA8A	CHRM5	psi-mi:“MI:0915”(physical association)	0.370
HSPB1	GOLGA8A	psi-mi:“MI:0915”(physical association)	0.370
GOLGA8A	ZNF320	psi-mi:“MI:0914”(association)	0.350
GOLGA8A	GEMIN2	psi-mi:“MI:0914”(association)	0.350

BioGRID (35): GOLGA8A (Two-hybrid), GOLGA8A (Two-hybrid), GOLGA8A (Affinity Capture-RNA), LTF (Affinity Capture-MS), APOA1 (Affinity Capture-MS), TRIM26 (Affinity Capture-MS), GCA (Affinity Capture-MS), CST4 (Affinity Capture-MS), GEMIN2 (Affinity Capture-MS), C10orf2 (Affinity Capture-MS), SCGB2A1 (Affinity Capture-MS), RSPRY1 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), LACRT (Affinity Capture-MS), IGJ (Affinity Capture-MS)

ESM2 similar proteins: A2AM05, A6NC78, A6NCC3, A6NDK9, A6NDN3, A6NJZ7, A6NMD2, A6NN73, A6NNM3, A7E2F4, A8MQT2, D6RF30, F8WBI6, H3BPF8, H3BQL2, H3BSY2, H3BV12, I6L899, P0CG33, P0CJ92, P0DO97, P0DX52, P0DX53, P54257, Q0D2H9, Q0KK56, Q2M243, Q3T1I3, Q3TCJ8, Q3V0F0, Q5BK57, Q5XHZ2, Q6AW69, Q6AXN6, Q6PHN1, Q7TME2, Q8BG89, Q8BGY3, Q8C0G2, Q8K389

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	8
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2241 predictions. Top by Δscore:

Variant	Effect	Δscore
15:34381698:CA:C	donor_loss	1.0000
15:34381699:A:AC	donor_gain	1.0000
15:34381699:AC:A	donor_gain	1.0000
15:34381699:ACCAC:A	donor_gain	1.0000
15:34381700:C:CC	donor_gain	1.0000
15:34381700:CC:C	donor_gain	1.0000
15:34381700:CCA:C	donor_gain	1.0000
15:34381700:CCACC:C	donor_gain	1.0000
15:34381852:TTCAC:T	acceptor_gain	1.0000
15:34381853:TCAC:T	acceptor_gain	1.0000
15:34381854:CAC:C	acceptor_gain	1.0000
15:34381854:CACC:C	acceptor_gain	1.0000
15:34381855:AC:A	acceptor_gain	1.0000
15:34381855:ACCT:A	acceptor_loss	1.0000
15:34381856:CC:C	acceptor_gain	1.0000
15:34381857:C:CC	acceptor_gain	1.0000
15:34381857:C:T	acceptor_gain	1.0000
15:34381963:CCTAC:C	donor_loss	1.0000
15:34381966:A:AC	donor_gain	1.0000
15:34381966:A:C	donor_loss	1.0000
15:34381966:ACCTT:A	donor_gain	1.0000
15:34381967:C:CC	donor_gain	1.0000
15:34381967:CCTT:C	donor_gain	1.0000
15:34381967:CCTTC:C	donor_gain	1.0000
15:34381970:T:TA	donor_gain	1.0000
15:34381975:T:A	donor_gain	1.0000
15:34381978:T:TA	donor_gain	1.0000
15:34382064:CTTTC:C	acceptor_gain	1.0000
15:34382065:TTTC:T	acceptor_gain	1.0000
15:34382066:TTC:T	acceptor_gain	1.0000

AlphaMissense

3946 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:34383778:A:G	W272R	0.922
15:34383778:A:T	W272R	0.922
15:34383776:C:A	W272C	0.915
15:34383776:C:G	W272C	0.915
15:34383756:A:G	M279T	0.910
15:34383777:C:G	W272S	0.877
15:34382963:A:G	L342P	0.869
15:34382180:G:C	F469L	0.868
15:34382180:G:T	F469L	0.868
15:34382182:A:G	F469L	0.868
15:34381444:A:C	F621L	0.863
15:34381444:A:T	F621L	0.863
15:34381446:A:G	F621L	0.863
15:34383755:C:A	M279I	0.862
15:34383755:C:G	M279I	0.862
15:34383755:C:T	M279I	0.862
15:34381786:G:C	F536L	0.856
15:34381786:G:T	F536L	0.856
15:34381788:A:G	F536L	0.856
15:34382984:A:G	L335P	0.856
15:34383765:A:G	M276T	0.849
15:34383808:C:G	A262P	0.838
15:34387947:T:A	K18N	0.838
15:34387947:T:G	K18N	0.838
15:34389655:C:G	A13P	0.836
15:34383476:A:G	L300P	0.826
15:34383840:A:G	L251P	0.825
15:34385130:A:G	L190P	0.822
15:34383756:A:C	M279R	0.815
15:34385322:A:G	L158S	0.811

dbSNP variants (sampled 300 via entrez): RS1000009750 (15:34406713 A>G), RS1000121742 (15:34423463 A>G), RS1000374186 (15:34430541 G>C), RS1000464811 (15:34408397 TAC>T), RS1000712305 (15:34434658 C>A,T), RS1000910084 (15:34420449 A>G), RS1000974765 (15:34429251 T>C), RS1001123597 (15:34420879 T>C), RS1001320578 (15:34428962 G>A), RS1001467645 (15:34405908 A>G,T), RS1001468397 (15:34430063 T>C), RS1001520092 (15:34406676 G>C), RS1001728845 (15:34380506 T>G), RS1001815048 (15:34422072 G>A), RS1002053170 (15:34439783 G>A,C)

Disease associations

OMIM: gene MIM:616180 | 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

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	decreases expression, increases expression, affects cotreatment	3
Benzo(a)pyrene	decreases expression, decreases methylation	3
Tetrachlorodibenzodioxin	affects expression, decreases expression	3
bisphenol A	decreases expression, affects cotreatment	2
sodium arsenite	decreases expression	2
perfluorooctanoic acid	increases expression, decreases expression	2
Aflatoxin B1	affects expression, increases methylation	2
aristolochic acid I	decreases expression	1
bisphenol F	decreases expression, affects cotreatment	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
butyraldehyde	decreases expression	1
resorcinol	increases expression	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	decreases expression	1
tamibarotene	decreases expression	1
Am 580	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Irinotecan	affects cotreatment, increases response to substance	1
Rosiglitazone	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1

Clinical trials (associated diseases)

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