GOLGA8K

Summary

GOLGA8K (golgin A8 family member K, HGNC:38652) is a protein-coding gene on chromosome 15q13.3, encoding Golgin subfamily A member 8K (D6RF30).

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 653125 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 10 total
• MANE Select transcript: NM_001282493

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:38652
Approved symbol	GOLGA8K
Name	golgin A8 family member K
Location	15q13.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000249931
Ensembl biotype	protein_coding
Entrez	653125

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 retained_intron, 1 protein_coding

ENST00000435655, ENST00000512626

RefSeq mRNA: 1 — MANE Select: NM_001282493 NM_001282493

CCDS: CCDS61577

Canonical transcript exons

ENST00000512626 — 19 exons

Exon	Start	End
ENSE00001858554	32394145	32394233
ENSE00002020048	32396287	32396543
ENSE00002029437	32398560	32398669
ENSE00002034697	32396920	32397007
ENSE00002044412	32393042	32393197
ENSE00002050571	32398765	32398849
ENSE00002058757	32393473	32393570
ENSE00002067858	32393293	32393390
ENSE00002075375	32397203	32397310
ENSE00002076194	32398938	32398985
ENSE00002080018	32389599	32392957
ENSE00002080077	32397417	32397503
ENSE00002081299	32394665	32394740
ENSE00003425213	32395963	32396031
ENSE00003472593	32400140	32400220
ENSE00003525183	32400402	32400461
ENSE00003585411	32401356	32401475
ENSE00003596731	32399248	32399286
ENSE00003931936	32403147	32403292

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 74.11.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	74.11	gold quality
right testis	UBERON:0004534	73.33	gold quality
left testis	UBERON:0004533	73.21	gold quality
testis	UBERON:0000473	73.10	gold quality
thyroid gland	UBERON:0002046	72.23	gold quality
left lobe of thyroid gland	UBERON:0001120	72.18	gold quality
sural nerve	UBERON:0015488	71.03	gold quality
descending thoracic aorta	UBERON:0002345	67.64	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	67.13	gold quality
bone marrow cell	CL:0002092	65.70	gold quality
thoracic aorta	UBERON:0001515	65.70	gold quality
bone marrow	UBERON:0002371	65.55	gold quality
ascending aorta	UBERON:0001496	65.47	gold quality
right ovary	UBERON:0002118	64.68	gold quality
putamen	UBERON:0001874	64.66	gold quality
granulocyte	CL:0000094	64.27	gold quality
left ovary	UBERON:0002119	64.00	gold quality
mucosa of stomach	UBERON:0001199	63.82	gold quality
ovary	UBERON:0000992	63.50	gold quality
caudate nucleus	UBERON:0001873	63.45	gold quality
apex of heart	UBERON:0002098	63.27	gold quality
monocyte	CL:0000576	63.26	gold quality
leukocyte	CL:0000738	63.21	gold quality
omental fat pad	UBERON:0010414	63.07	gold quality
adipose tissue	UBERON:0001013	62.80	gold quality
subcutaneous adipose tissue	UBERON:0002190	62.68	gold quality
right coronary artery	UBERON:0001625	61.59	gold quality
colonic epithelium	UBERON:0000397	61.30	silver quality
endocervix	UBERON:0000458	60.88	gold quality
tibial nerve	UBERON:0001323	60.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

116 targeting GOLGA8K, 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-6077	99.99	68.04	2299
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-4482-3P	99.98	72.50	3147
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6845-3P	99.94	66.88	1439
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-1305	99.91	71.43	3443
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-374A-5P	99.90	71.34	2923
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), GOLGA8O (ENSG00000206127), GOLGA6B (ENSG00000215186), GOLGA8B (ENSG00000215252), GOLGA8N (ENSG00000232653), GOLGA8T (ENSG00000261247), GOLGA8S (ENSG00000261739), GOLGA8H (ENSG00000261794)

Protein

Protein identifiers

Golgin subfamily A member 8K — D6RF30 (reviewed: D6RF30)

All UniProt accessions (1): D6RF30

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA8 family.

RefSeq proteins (1): NP_001269422* (*=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 (7 total): region of interest 3, coiled-coil region 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-D6RF30-F1	70.33	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 12 (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, GOCC_GOLGI_APPARATUS_SUBCOMPARTMENT, 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

290 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA8K	MRFAP1L1	Q96HT8	447
GOLGA8K	CLEC19A	Q6UXS0	447
GOLGA8K	CACFD1	Q9UGQ2	400
GOLGA8K	C1orf35	Q9BU76	393
GOLGA8K	TBC1D8B	Q0IIM8	392
GOLGA8K	SIRAL2	Q9NWS6	378
GOLGA8K	SMIM14	Q96QK8	374
GOLGA8K	RETREG3	Q86VR2	370
GOLGA8K	FAM163A	Q96GL9	370
GOLGA8K	NT5DC3	Q86UY8	370
GOLGA8K	PRRG1	O14668	365
GOLGA8K	C6orf47	O95873	357
GOLGA8K	MTMR10	Q9NXD2	355
GOLGA8K	MINDY2	Q8NBR6	355
GOLGA8K	RBM12	Q9NTZ6	350

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, 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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	10
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2448 predictions. Top by Δscore:

Variant	Effect	Δscore
15:32393038:TCA:T	donor_loss	1.0000
15:32393039:CAC:C	donor_loss	1.0000
15:32393040:A:AC	donor_gain	1.0000
15:32393040:AC:A	donor_gain	1.0000
15:32393040:ACCAC:A	donor_gain	1.0000
15:32393041:C:CA	donor_loss	1.0000
15:32393041:C:CC	donor_gain	1.0000
15:32393041:CC:C	donor_gain	1.0000
15:32393041:CCA:C	donor_gain	1.0000
15:32393041:CCACC:C	donor_gain	1.0000
15:32393193:TTCAC:T	acceptor_gain	1.0000
15:32393194:TCAC:T	acceptor_gain	1.0000
15:32393195:CAC:C	acceptor_gain	1.0000
15:32393195:CACC:C	acceptor_gain	1.0000
15:32393196:AC:A	acceptor_gain	1.0000
15:32393197:CC:C	acceptor_gain	1.0000
15:32393198:C:CC	acceptor_gain	1.0000
15:32393199:T:A	acceptor_loss	1.0000
15:32393288:CCTAC:C	donor_loss	1.0000
15:32393290:TACC:T	donor_loss	1.0000
15:32393292:C:A	donor_loss	1.0000
15:32393304:C:CA	donor_gain	1.0000
15:32393389:TCCT:T	acceptor_loss	1.0000
15:32393391:C:CC	acceptor_gain	1.0000
15:32393391:CTGC:C	acceptor_loss	1.0000
15:32393392:T:A	acceptor_loss	1.0000
15:32393471:A:AC	donor_gain	1.0000
15:32393472:C:CA	donor_gain	1.0000
15:32394140:CTCA:C	donor_loss	1.0000
15:32394141:TCA:T	donor_loss	1.0000

AlphaMissense

4167 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000746125 (15:32401168 G>A,C,T), RS1000798557 (15:32402296 C>G,T), RS1001526367 (15:32404941 C>T), RS1001853634 (15:32398702 G>A,C,T), RS1001906004 (15:32398917 A>C), RS1003580647 (15:32396270 C>G), RS1004459806 (15:32390427 T>C), RS1004469839 (15:32391452 T>C), RS1004980754 (15:32404858 T>A), RS1005263767 (15:32397600 C>T), RS1005335123 (15:32403212 G>A,C), RS1007809619 (15:32397183 G>A), RS1007830680 (15:32397425 G>A), RS1008154829 (15:32395198 A>G), RS1009266487 (15:32401110 C>G)

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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenate	increases abundance, increases expression	1
Arsenic	increases abundance, increases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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