GOLGA8J

Summary

GOLGA8J (golgin A8 family member J, HGNC:38650) is a protein-coding gene on chromosome 15q13.2, encoding Golgin subfamily A member 8J (A6NMD2).

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

Source: NCBI Gene 653073 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_001282472

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:38650
Approved symbol	GOLGA8J
Name	golgin A8 family member J
Location	15q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000179938
Ensembl biotype	protein_coding
Entrez	653073

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000567927, ENST00000568123

RefSeq mRNA: 1 — MANE Select: NM_001282472 NM_001282472

CCDS: CCDS61574

Canonical transcript exons

ENST00000567927 — 19 exons

Exon	Start	End
ENSE00001297163	30093084	30093239
ENSE00001666010	30089236	30089323
ENSE00001711166	30091535	30091610
ENSE00001740814	30088933	30089040
ENSE00001751809	30092708	30092808
ENSE00001775521	30089700	30089956
ENSE00001794642	30092042	30092133
ENSE00001803734	30092891	30092988
ENSE00002256028	30088740	30088826
ENSE00002292285	30090212	30090280
ENSE00003475899	30086958	30086996
ENSE00003588325	30084771	30084890
ENSE00003591087	30087259	30087306
ENSE00003592990	30085783	30085842
ENSE00003600499	30087575	30087684
ENSE00003609403	30093324	30096690
ENSE00003631330	30086024	30086104
ENSE00003692616	30087395	30087479
ENSE00003934523	30082955	30083100

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 77.50.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	77.50	gold quality
right testis	UBERON:0004534	77.38	gold quality
testis	UBERON:0000473	76.88	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.87	silver quality
right lobe of thyroid gland	UBERON:0001119	74.22	gold quality
left lobe of thyroid gland	UBERON:0001120	72.03	gold quality
thyroid gland	UBERON:0002046	71.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	69.53	gold quality
sural nerve	UBERON:0015488	68.94	gold quality
cerebellar cortex	UBERON:0002129	68.74	gold quality
cerebellar hemisphere	UBERON:0002245	68.72	gold quality
cerebellum	UBERON:0002037	68.50	gold quality
endometrium	UBERON:0001295	68.28	gold quality
body of pancreas	UBERON:0001150	68.15	gold quality
apex of heart	UBERON:0002098	67.59	gold quality
left ovary	UBERON:0002119	66.51	gold quality
right atrium auricular region	UBERON:0006631	66.14	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	65.69	gold quality
ovary	UBERON:0000992	65.57	gold quality
right ovary	UBERON:0002118	65.57	gold quality
pituitary gland	UBERON:0000007	65.07	gold quality
stromal cell of endometrium	CL:0002255	64.97	gold quality
right uterine tube	UBERON:0001302	64.96	gold quality
putamen	UBERON:0001874	64.81	gold quality
calcaneal tendon	UBERON:0003701	64.54	gold quality
metanephros cortex	UBERON:0010533	64.52	gold quality
ascending aorta	UBERON:0001496	64.37	gold quality
thoracic aorta	UBERON:0001515	64.26	gold quality
adenohypophysis	UBERON:0002196	64.18	gold quality
caudate nucleus	UBERON:0001873	63.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

125 targeting GOLGA8J, 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-4795-3P	100.00	74.62	4024
HSA-MIR-5011-5P	100.00	83.46	5820
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-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4482-3P	99.98	72.50	3147
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-607	99.97	73.62	5593
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
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-7-1-3P	99.91	71.53	4384

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), 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 8J — A6NMD2 (reviewed: A6NMD2)

All UniProt accessions (1): A6NMD2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA8 family.

RefSeq proteins (1): NP_001269401* (*=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 (10 total): region of interest 4, compositionally biased region 3, coiled-coil region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NMD2-F1	70.70	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (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, MIR3662, MIR520D_5P, MIR524_5P, MIR4262, MIR181A_5P_MIR181B_5P, MIR181D_5P

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

244 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA8J	F5GXT2	F5GXT2	477
GOLGA8J	GPBP1L1	Q9HC44	447
GOLGA8J	EDRF1	Q3B7T1	447
GOLGA8J	ZNF626	Q68DY1	407
GOLGA8J	PTAR1	Q7Z6K3	399
GOLGA8J	ZKSCAN8	Q15776	373
GOLGA8J	EAPP	Q56P03	368
GOLGA8J	PRAMEF13	Q5VWM6	352
GOLGA8J	CNIH1	O95406	348
GOLGA8J	ZFC3H1	O60293	323
GOLGA8J	FXYD4	P59646	320
GOLGA8J	MYO3B	Q8WXR4	311
GOLGA8J	TMED3	Q9Y3Q3	307
GOLGA8J	TAF1C	Q15572	305
GOLGA8J	BIN3	Q9NQY0	302

IntAct

2 interactions, top by confidence:

A	B	Type	Score
GOLGA8G	GOLGA8J	psi-mi:“MI:0914”(association)	0.350

BioGRID (3): GOLGA8J (Affinity Capture-MS), GOLGA8J (Affinity Capture-MS), GOLGA8J (Negative Genetic)

ESM2 similar proteins: A2AM05, A2RUR9, A5D8S1, A6H5Y1, A6NC78, A6NDN3, A6NMD2, A9JSR5, A9ZSY0, D6RF30, H3BQL2, H3BSY2, P0CJ92, Q19UN5, Q3TCJ8, Q3URK1, Q3V036, Q3V125, Q3ZRW6, Q3ZRW7, Q49A88, Q5CZC0, Q5IR70, Q5R6R3, Q5R8Y4, Q5TB80, Q640L3, Q66HB6, Q6AXN6, Q6ZQ06, Q811D2, Q86TE4, Q86V48, Q8BGY3, Q8CDM4, Q8IYA2, Q8K2J4, Q8K389, Q8R4U7, Q8TC20

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

5 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	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2434 predictions. Top by Δscore:

Variant	Effect	Δscore
15:30084769:A:AG	acceptor_gain	1.0000
15:30084770:G:GG	acceptor_gain	1.0000
15:30084841:G:GT	donor_gain	1.0000
15:30084870:G:GA	donor_gain	1.0000
15:30084886:GGGAT:G	donor_gain	1.0000
15:30084887:GGAT:G	donor_gain	1.0000
15:30084887:GGATG:G	donor_gain	1.0000
15:30084888:G:T	donor_gain	1.0000
15:30084888:GAT:G	donor_gain	1.0000
15:30084888:GATG:G	donor_gain	1.0000
15:30084891:G:GG	donor_gain	1.0000
15:30085781:A:AG	acceptor_gain	1.0000
15:30085782:G:GG	acceptor_gain	1.0000
15:30085986:A:AG	acceptor_gain	1.0000
15:30085987:C:G	acceptor_gain	1.0000
15:30085991:T:A	acceptor_gain	1.0000
15:30085997:A:AG	acceptor_gain	1.0000
15:30085998:C:G	acceptor_gain	1.0000
15:30086010:T:A	acceptor_gain	1.0000
15:30086013:A:AG	acceptor_gain	1.0000
15:30086013:AT:A	acceptor_gain	1.0000
15:30086014:T:G	acceptor_gain	1.0000
15:30086017:A:AG	acceptor_gain	1.0000
15:30086018:C:G	acceptor_gain	1.0000
15:30086021:CA:C	acceptor_loss	1.0000
15:30086022:A:AG	acceptor_gain	1.0000
15:30086023:G:GG	acceptor_gain	1.0000
15:30086023:GA:G	acceptor_gain	1.0000
15:30086023:GAGC:G	acceptor_gain	1.0000
15:30086023:GAGCC:G	acceptor_gain	1.0000

AlphaMissense

4178 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:30089790:T:C	L322P	0.876
15:30093152:T:C	F546L	0.842
15:30093154:C:A	F546L	0.842
15:30093154:C:G	F546L	0.842
15:30086103:T:C	L103P	0.799
15:30089769:T:C	L315P	0.792
15:30089010:G:C	W252C	0.787
15:30089010:G:T	W252C	0.787
15:30083089:G:C	A13P	0.786
15:30087602:T:C	L170P	0.773
15:30084772:T:C	L17S	0.771
15:30086082:T:C	L96P	0.767
15:30092777:T:C	F480L	0.754
15:30092779:C:A	F480L	0.754
15:30092779:C:G	F480L	0.754
15:30089757:T:C	L311P	0.748
15:30084776:A:C	K18N	0.746
15:30084776:A:T	K18N	0.746
15:30089008:T:A	W252R	0.743
15:30089008:T:C	W252R	0.743
15:30089031:G:A	M259I	0.706
15:30089031:G:C	M259I	0.706
15:30089031:G:T	M259I	0.706
15:30083094:G:C	K14N	0.695
15:30083094:G:T	K14N	0.695
15:30089820:T:C	I332T	0.678
15:30089009:G:C	W252S	0.677
15:30086989:T:C	L114P	0.674
15:30089030:T:C	M259T	0.672
15:30087580:T:C	S163P	0.671

dbSNP variants (sampled 300 via entrez): RS1000848967 (15:30084545 G>A), RS1001022470 (15:30094537 G>A,C), RS1001136627 (15:30094060 A>C), RS1001302705 (15:30082753 C>T), RS1001365170 (15:30082968 C>T), RS1001868847 (15:30082386 G>A,C), RS1002144957 (15:30093961 C>T), RS1002250847 (15:30082211 G>A,C), RS1002261021 (15:30093774 A>G), RS1003384997 (15:30090622 C>G), RS1004156597 (15:30093409 C>G,T), RS1004944715 (15:30094996 T>C), RS1005036466 (15:30087755 C>G,T), RS1005050789 (15:30095476 C>T), RS1005163900 (15:30092285 A>T)

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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
hydroxyhydroquinone	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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