GOLGA8S

Summary

GOLGA8S (golgin A8 family member S, HGNC:44409) is a protein-coding gene on chromosome 15q11.2, encoding Golgin subfamily A member 8S (H3BPF8).

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 653061 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 9 total — 1 pathogenic
• MANE Select transcript: NM_001395373

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44409
Approved symbol	GOLGA8S
Name	golgin A8 family member S
Location	15q11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000261739
Ensembl biotype	protein_coding
Entrez	653061

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 retained_intron

ENST00000562295, ENST00000604046

RefSeq mRNA: 2 — MANE Select: NM_001395373 NM_001355465, NM_001395373

CCDS: CCDS91964

Canonical transcript exons

ENST00000562295 — 19 exons

Exon	Start	End
ENSE00002586063	23358784	23358831
ENSE00002609622	23354748	23354893
ENSE00002611250	23364959	23368341
ENSE00002619044	23358472	23358510
ENSE00002621873	23360229	23360318
ENSE00003480013	23364343	23364443
ENSE00003491356	23364719	23364874
ENSE00003537190	23361221	23361456
ENSE00003547804	23363678	23363769
ENSE00003554101	23360425	23360532
ENSE00003569772	23360728	23360815
ENSE00003572732	23356591	23356710
ENSE00003578942	23364526	23364623
ENSE00003604665	23361724	23361792
ENSE00003605489	23357296	23357355
ENSE00003608242	23363165	23363240
ENSE00003614971	23357539	23357619
ENSE00003660073	23359100	23359209
ENSE00003680491	23358920	23359004

Expression profiles

Bgee: expression breadth ubiquitous, 120 present calls, max score 71.52.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	71.52	gold quality
testis	UBERON:0000473	71.48	gold quality
right testis	UBERON:0004534	70.15	gold quality
right lobe of thyroid gland	UBERON:0001119	66.64	gold quality
left lobe of thyroid gland	UBERON:0001120	65.54	gold quality
thyroid gland	UBERON:0002046	65.26	gold quality
right atrium auricular region	UBERON:0006631	63.26	gold quality
primary visual cortex	UBERON:0002436	62.45	gold quality
descending thoracic aorta	UBERON:0002345	58.83	gold quality
stromal cell of endometrium	CL:0002255	58.30	gold quality
body of pancreas	UBERON:0001150	57.33	gold quality
prefrontal cortex	UBERON:0000451	57.14	gold quality
apex of heart	UBERON:0002098	56.84	gold quality
left ovary	UBERON:0002119	56.74	gold quality
thoracic aorta	UBERON:0001515	56.62	gold quality
ascending aorta	UBERON:0001496	56.41	gold quality
ventricular zone	UBERON:0003053	56.19	gold quality
right ovary	UBERON:0002118	56.07	gold quality
endocervix	UBERON:0000458	55.94	gold quality
heart	UBERON:0000948	55.92	gold quality
mucosa of stomach	UBERON:0001199	55.92	gold quality
ovary	UBERON:0000992	55.84	gold quality
superior frontal gyrus	UBERON:0002661	55.77	gold quality
omental fat pad	UBERON:0010414	55.76	gold quality
right lobe of liver	UBERON:0001114	55.72	gold quality
adipose tissue	UBERON:0001013	55.69	gold quality
subcutaneous adipose tissue	UBERON:0002190	55.68	gold quality
left coronary artery	UBERON:0001626	54.82	gold quality
pancreas	UBERON:0001264	54.56	gold quality
bone marrow cell	CL:0002092	54.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.77

Regulation

Is transcription factor: no

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), GOLGA8O (ENSG00000206127), GOLGA6B (ENSG00000215186), GOLGA8B (ENSG00000215252), GOLGA8N (ENSG00000232653), GOLGA8K (ENSG00000249931), GOLGA8T (ENSG00000261247), GOLGA8H (ENSG00000261794)

Protein

Protein identifiers

Golgin subfamily A member 8S — H3BPF8 (reviewed: H3BPF8)

All UniProt accessions (1): H3BPF8

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA8 family.

RefSeq proteins (2): NP_001342394, NP_001382302* (*=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 (13 total): compositionally biased region 5, region of interest 4, coiled-coil region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-H3BPF8-F1	69.74	0.40

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 13 (showing top): chr15q11, 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_PRADERWILLI_AND_ANGELMAN_SYNDROME, GOCC_GOLGI_APPARATUS_SUBCOMPARTMENT, OSMAN_BLOOD_CHAD63_KH_AGE_18_50YO_HIGH_DOSE_SUBJECTS_24HR_DN, 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

160 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA8S	C1orf105	O95561	669
GOLGA8S	PPIAL4E	A0A075B759	647
GOLGA8S	POTEB3	A0JP26	505
GOLGA8S	EPHX3	Q9H6B9	447
GOLGA8S	OR4M2	Q8NGB6	377
GOLGA8S	GABRA5	P31644	324
GOLGA8S	INSM2	Q96T92	321
GOLGA8S	THRB	P10828	260
GOLGA8S	ZBED2	Q9BTP6	253
GOLGA8S	HERC2	O95714	246
GOLGA8S	ITSN2	Q9NZM3	238
GOLGA8S	CHRFAM7A	Q494W8	230
GOLGA8S	GOLGA6L7	A0A1B0GV03	223
GOLGA8S	TUBGCP5	Q96RT8	222
GOLGA8S	NIPA2	Q8N8Q9	204

IntAct

0 interactions, top by confidence:

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

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	0
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2498204	NC_000015.10:g.22698177_(23120963_23380983)del	Pathogenic

SpliceAI

2939 predictions. Top by Δscore:

Variant	Effect	Δscore
15:23356585:T:A	acceptor_gain	1.0000
15:23356589:A:AG	acceptor_gain	1.0000
15:23356589:A:T	acceptor_loss	1.0000
15:23356590:G:GG	acceptor_gain	1.0000
15:23356590:GT:G	acceptor_gain	1.0000
15:23356590:GTT:G	acceptor_gain	1.0000
15:23356590:GTTA:G	acceptor_gain	1.0000
15:23356690:G:GA	donor_gain	1.0000
15:23356706:GAGAT:G	donor_gain	1.0000
15:23356708:GAT:G	donor_gain	1.0000
15:23356709:ATGT:A	donor_loss	1.0000
15:23356710:TGTG:T	donor_loss	1.0000
15:23356711:G:GG	donor_gain	1.0000
15:23356712:TGAG:T	donor_loss	1.0000
15:23357292:GTA:G	acceptor_loss	1.0000
15:23357293:TA:T	acceptor_loss	1.0000
15:23357294:A:AG	acceptor_gain	1.0000
15:23357294:A:C	acceptor_loss	1.0000
15:23357295:G:GA	acceptor_gain	1.0000
15:23357295:GT:G	acceptor_gain	1.0000
15:23357295:GTC:G	acceptor_gain	1.0000
15:23357295:GTCA:G	acceptor_gain	1.0000
15:23357501:A:AG	acceptor_gain	1.0000
15:23357502:C:G	acceptor_gain	1.0000
15:23357512:A:AG	acceptor_gain	1.0000
15:23357513:C:G	acceptor_gain	1.0000
15:23357525:T:A	acceptor_gain	1.0000
15:23357528:A:AG	acceptor_gain	1.0000
15:23357528:ATGC:A	acceptor_gain	1.0000
15:23357529:T:G	acceptor_gain	1.0000

AlphaMissense

4186 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:23360502:G:C	W252C	0.884
15:23360502:G:T	W252C	0.884
15:23360500:T:A	W252R	0.877
15:23360500:T:C	W252R	0.877
15:23354882:G:C	A13P	0.837
15:23364787:T:C	F539L	0.834
15:23364789:C:A	F539L	0.834
15:23364789:C:G	F539L	0.834
15:23360522:T:C	M259T	0.823
15:23360501:G:C	W252S	0.819
15:23359127:T:C	L170P	0.806
15:23356596:A:C	K18N	0.794
15:23356596:A:T	K18N	0.794
15:23360513:T:C	M256T	0.792
15:23361311:T:C	L322P	0.788
15:23360514:G:A	M256I	0.786
15:23360514:G:C	M256I	0.786
15:23360514:G:T	M256I	0.786
15:23356592:T:C	L17S	0.784
15:23364412:T:C	F473L	0.784
15:23364414:C:A	F473L	0.784
15:23364414:C:G	F473L	0.784
15:23359105:T:C	S163P	0.782
15:23354887:G:C	K14N	0.775
15:23354887:G:T	K14N	0.775
15:23356600:T:C	Y20H	0.771
15:23360523:G:A	M259I	0.764
15:23360523:G:C	M259I	0.764
15:23360523:G:T	M259I	0.764
15:23365099:T:C	F615L	0.762

dbSNP variants (sampled 300 via entrez): RS1000450653 (15:23364700 T>C), RS1001237685 (15:23365490 T>C,G), RS1001336299 (15:23357407 C>G), RS1001390241 (15:23357683 G>A), RS1001857218 (15:23365659 A>G), RS1002340401 (15:23359840 G>A,C), RS1002395971 (15:23360084 T>C), RS1002460189 (15:23367209 T>C), RS1002647551 (15:23366642 G>C), RS1003261570 (15:23368497 G>A,T), RS1003346997 (15:23361792 G>A), RS1003600689 (15:23368089 T>C), RS1004362485 (15:23359809 A>T), RS1004472784 (15:23366267 T>C), RS1004966075 (15:23361660 C>T)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:615656

GenCC curated gene-disease

Mondo (1): chromosome 15q11.2 deletion syndrome (MONDO:0014294)

Orphanet (1): 15q11.2 microdeletion syndrome (Orphanet:261183)

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

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
methyleugenol	increases expression	1
fipronil	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Zoledronic Acid	increases expression	1
DEET	affects cotreatment, decreases expression	1
Valproic Acid	increases expression	1

Clinical trials (associated diseases)

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