GOLGA8F

Summary

GOLGA8F (golgin A8 family member F, HGNC:32378) is a protein-coding gene on chromosome 15q13.1, encoding Golgin subfamily A member 8F (P0DX52).

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 100132565 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 4 total
• MANE Select transcript: NM_001350920

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32378
Approved symbol	GOLGA8F
Name	golgin A8 family member F
Location	15q13.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp434P162
Ensembl gene	ENSG00000153684
Ensembl biotype	protein_coding
Entrez	100132565

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 retained_intron, 1 protein_coding

ENST00000526619, ENST00000532622, ENST00000564114, ENST00000565126, ENST00000568913

RefSeq mRNA: 1 — MANE Select: NM_001350920 NM_001350920

CCDS: CCDS86437

Canonical transcript exons

ENST00000526619 — 19 exons

Exon	Start	End
ENSE00001599277	28384646	28384733
ENSE00001616940	28388879	28392021
ENSE00001617581	28384343	28384450
ENSE00001674364	28385125	28385381
ENSE00001698823	28388641	28388793
ENSE00001721504	28387602	28387693
ENSE00001726999	28388451	28388551
ENSE00001748106	28385649	28385717
ENSE00001756197	28388268	28388368
ENSE00001765336	28387089	28387164
ENSE00002607513	28382702	28382749
ENSE00002618873	28382390	28382428
ENSE00003483731	28382838	28382922
ENSE00003502084	28380507	28380626
ENSE00003502201	28384147	28384236
ENSE00003623780	28381455	28381535
ENSE00003647436	28378664	28378809
ENSE00003667058	28381212	28381271
ENSE00003678379	28383018	28383127

Expression profiles

Bgee: expression breadth broad, 91 present calls, max score 83.83.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	83.83	gold quality
right testis	UBERON:0004534	83.62	gold quality
testis	UBERON:0000473	82.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.39	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.76	gold quality
sural nerve	UBERON:0015488	54.93	gold quality
stromal cell of endometrium	CL:0002255	50.94	silver quality
adenohypophysis	UBERON:0002196	41.90	gold quality
hindlimb stylopod muscle	UBERON:0004252	41.69	gold quality
cortical plate	UBERON:0005343	41.63	gold quality
right coronary artery	UBERON:0001625	40.26	gold quality
prefrontal cortex	UBERON:0000451	39.99	gold quality
vermiform appendix	UBERON:0001154	39.63	gold quality
skeletal muscle tissue	UBERON:0001134	38.93	silver quality
monocyte	CL:0000576	38.75	silver quality
right ovary	UBERON:0002118	38.75	silver quality
body of pancreas	UBERON:0001150	38.64	gold quality
pituitary gland	UBERON:0000007	38.15	gold quality
vagina	UBERON:0000996	37.81	gold quality
right uterine tube	UBERON:0001302	37.81	silver quality
left ovary	UBERON:0002119	37.57	gold quality
muscle tissue	UBERON:0002385	37.33	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
lower esophagus	UBERON:0013473	37.10	gold quality
lower esophagus muscularis layer	UBERON:0035833	37.00	gold quality
primary visual cortex	UBERON:0002436	36.95	gold quality
right adrenal gland cortex	UBERON:0035827	36.85	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	36.83	silver quality
right adrenal gland	UBERON:0001233	36.74	silver quality
ovary	UBERON:0000992	36.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.48

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• the apparent occurrence of an unusual TG 3’ splice site in intron 11 is discussed (PMID:17672918)

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), 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), GOLGA8S (ENSG00000261739), GOLGA8H (ENSG00000261794)

Protein

Protein identifiers

Golgin subfamily A member 8F — P0DX52 (reviewed: P0DX52)

All UniProt accessions (1): P0DX52

UniProt curated annotations — full annotation on UniProt →

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the GOLGA8 family.

Isoforms (2)

UniProt ID	Names	Canonical?
P0DX52-1	1	yes
P0DX52-2	4

RefSeq proteins (1): NP_001337849* (*=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 (16 total): region of interest 6, compositionally biased region 4, coiled-coil region 3, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DX52-F1	70.25	0.41

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 6 (showing top): chr15q13, AACTGGA_MIR145, GOCC_CIS_GOLGI_NETWORK, SWEET_KRAS_TARGETS_UP, TGAATGT_MIR181A_MIR181B_MIR181C_MIR181D, GOCC_GOLGI_APPARATUS

GO Biological Process (0):

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

GO Cellular Component (2): cis-Golgi network (GO:0005801), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

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

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

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

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

2584 predictions. Top by Δscore:

Variant	Effect	Δscore
15:28380501:T:A	acceptor_gain	1.0000
15:28380502:GACA:G	acceptor_loss	1.0000
15:28380505:A:AG	acceptor_gain	1.0000
15:28380505:A:T	acceptor_loss	1.0000
15:28380506:G:GA	acceptor_gain	1.0000
15:28380506:GT:G	acceptor_gain	1.0000
15:28380506:GTT:G	acceptor_gain	1.0000
15:28380506:GTTA:G	acceptor_gain	1.0000
15:28380622:GAGAT:G	donor_gain	1.0000
15:28380624:GAT:G	donor_gain	1.0000
15:28380626:TGT:T	donor_loss	1.0000
15:28380627:G:GG	donor_gain	1.0000
15:28380627:G:T	donor_loss	1.0000
15:28380628:TGAG:T	donor_loss	1.0000
15:28381208:GTA:G	acceptor_loss	1.0000
15:28381209:TA:T	acceptor_loss	1.0000
15:28381210:A:AC	acceptor_loss	1.0000
15:28381210:A:AG	acceptor_gain	1.0000
15:28381211:G:GT	acceptor_gain	1.0000
15:28381211:GT:G	acceptor_gain	1.0000
15:28381211:GTC:G	acceptor_gain	1.0000
15:28381211:GTCA:G	acceptor_gain	1.0000
15:28381417:A:AG	acceptor_gain	1.0000
15:28381418:C:G	acceptor_gain	1.0000
15:28381428:A:AG	acceptor_gain	1.0000
15:28381429:C:G	acceptor_gain	1.0000
15:28381441:T:TA	acceptor_gain	1.0000
15:28381444:A:AG	acceptor_gain	1.0000
15:28381444:ATGC:A	acceptor_gain	1.0000
15:28381445:T:G	acceptor_gain	1.0000

AlphaMissense

2833 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:28384418:T:A	W47R	0.921
15:28384418:T:C	W47R	0.921
15:28384420:G:C	W47C	0.914
15:28384420:G:T	W47C	0.914
15:28385215:T:C	L117P	0.886
15:28385194:T:C	L110P	0.862
15:28385182:T:C	L106P	0.851
15:28384419:G:C	W47S	0.847
15:28384440:T:C	M54T	0.843
15:28388706:T:C	F341L	0.832
15:28388708:C:A	F341L	0.832
15:28388708:C:G	F341L	0.832
15:28388337:T:C	F275L	0.823
15:28388339:C:A	F275L	0.823
15:28388339:C:G	F275L	0.823
15:28385205:G:C	A114P	0.807
15:28384398:T:C	L40P	0.804
15:28384229:T:C	L19P	0.800
15:28384431:T:C	M51T	0.799
15:28384432:G:A	M51I	0.799
15:28384432:G:C	M51I	0.799
15:28384432:G:T	M51I	0.799
15:28384698:T:C	L75P	0.787
15:28389028:T:C	F420L	0.786
15:28389030:T:A	F420L	0.786
15:28389030:T:G	F420L	0.786
15:28384388:G:C	A37P	0.777
15:28384719:T:C	L82P	0.771
15:28384412:G:C	A45P	0.758
15:28385220:G:C	A119P	0.757

dbSNP variants (sampled 300 via entrez): RS1004815416 (15:28390307 AT>A), RS1004877515 (15:28385315 G>A), RS1005168429 (15:28387980 C>T), RS1013766403 (15:28378291 A>C), RS1014899205 (15:28385357 G>C), RS1014951626 (15:28388036 C>T), RS1020691692 (15:28378334 T>C), RS1030228991 (15:28385136 C>A,T), RS1030758741 (15:28379942 G>A), RS1032257052 (15:28379897 C>A), RS1034418193 (15:28389739 G>A), RS1036268682 (15:28391040 T>C), RS1037996838 (15:28378040 G>A,C), RS1042064702 (15:28387461 A>G), RS1051607202 (15:28390231 A>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

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
GSK-J4	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Copper	affects cotreatment, decreases expression	1
Folic Acid	decreases expression	1
Polychlorinated Biphenyls	affects expression	1
Asbestos, Serpentine	increases expression	1

Clinical trials (associated diseases)

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