GOLGA8T

Summary

GOLGA8T (golgin A8 family member T, HGNC:44410) is a protein-coding gene on chromosome 15q13.2, encoding Golgin subfamily A member 8T (H3BQL2).

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 653075 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 6 total
• MANE Select transcript: NM_001355469

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44410
Approved symbol	GOLGA8T
Name	golgin A8 family member T
Location	15q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000261247
Ensembl biotype	protein_coding
Entrez	653075

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000565649, ENST00000569052

RefSeq mRNA: 1 — MANE Select: NM_001355469 NM_001355469

CCDS: CCDS86440

Canonical transcript exons

ENST00000569052 — 19 exons

Exon	Start	End
ENSE00002577696	30143606	30143681
ENSE00002579359	30145392	30148748
ENSE00002579951	30140842	30140928
ENSE00002581008	30141802	30142058
ENSE00002584004	30145152	30145307
ENSE00002585251	30141338	30141425
ENSE00002585568	30139675	30139784
ENSE00002593106	30142314	30142382
ENSE00002594585	30144779	30144876
ENSE00002595316	30135051	30135196
ENSE00002610804	30139495	30139579
ENSE00002612675	30144959	30145056
ENSE00002625661	30141035	30141142
ENSE00002626868	30144113	30144204
ENSE00003525266	30137881	30137940
ENSE00003553370	30138122	30138202
ENSE00003608404	30136866	30136985
ENSE00003645474	30139359	30139406
ENSE00003683744	30139058	30139096

Expression profiles

Bgee: expression breadth ubiquitous, 118 present calls, max score 83.07.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.07	gold quality
right testis	UBERON:0004534	68.44	gold quality
testis	UBERON:0000473	67.39	gold quality
left testis	UBERON:0004533	66.99	gold quality
right lobe of thyroid gland	UBERON:0001119	58.32	gold quality
putamen	UBERON:0001874	57.93	gold quality
body of pancreas	UBERON:0001150	56.93	gold quality
caudate nucleus	UBERON:0001873	56.87	gold quality
left lobe of thyroid gland	UBERON:0001120	55.96	gold quality
right atrium auricular region	UBERON:0006631	55.78	gold quality
thyroid gland	UBERON:0002046	55.44	gold quality
bone marrow	UBERON:0002371	55.31	gold quality
mucosa of stomach	UBERON:0001199	54.44	gold quality
apex of heart	UBERON:0002098	53.74	gold quality
popliteal artery	UBERON:0002250	53.46	gold quality
tibial artery	UBERON:0007610	53.42	gold quality
left ovary	UBERON:0002119	53.39	gold quality
descending thoracic aorta	UBERON:0002345	52.53	gold quality
ectocervix	UBERON:0012249	51.73	gold quality
pancreas	UBERON:0001264	51.70	gold quality
ascending aorta	UBERON:0001496	51.57	gold quality
right ovary	UBERON:0002118	51.57	gold quality
thoracic aorta	UBERON:0001515	51.51	gold quality
bone marrow cell	CL:0002092	51.40	silver quality
left uterine tube	UBERON:0001303	51.40	gold quality
heart	UBERON:0000948	51.21	gold quality
ovary	UBERON:0000992	50.66	gold quality
ganglionic eminence	UBERON:0004023	50.58	gold quality
right coronary artery	UBERON:0001625	49.96	gold quality
heart left ventricle	UBERON:0002084	49.81	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.26

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), GOLGA8S (ENSG00000261739), GOLGA8H (ENSG00000261794)

Protein

Protein identifiers

Golgin subfamily A member 8T — H3BQL2 (reviewed: H3BQL2)

All UniProt accessions (1): H3BQL2

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA8 family.

RefSeq proteins (1): NP_001342398* (*=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-H3BQL2-F1	69.99	0.33

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

314 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GOLGA8T	MTMR10	Q9NXD2	447
GOLGA8T	MRFAP1L1	Q96HT8	405
GOLGA8T	CLEC19A	Q6UXS0	400
GOLGA8T	CCDC82	Q8N4S0	390
GOLGA8T	OTUD7A	Q8TE49	373
GOLGA8T	CACFD1	Q9UGQ2	367
GOLGA8T	C1orf35	Q9BU76	349
GOLGA8T	TBC1D8B	Q0IIM8	349
GOLGA8T	SIRAL2	Q9NWS6	348
GOLGA8T	SMIM14	Q96QK8	338
GOLGA8T	RAPGEFL1	Q9UHV5	326
GOLGA8T	RETREG3	Q86VR2	324
GOLGA8T	NT5DC3	Q86UY8	324
GOLGA8T	FAM163A	Q96GL9	323
GOLGA8T	BEAN1	Q3B7T3	321

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2487 predictions. Top by Δscore:

Variant	Effect	Δscore
15:30136864:A:AG	acceptor_gain	1.0000
15:30136865:G:GG	acceptor_gain	1.0000
15:30136936:G:GT	donor_gain	1.0000
15:30136965:G:GA	donor_gain	1.0000
15:30136981:GGGAT:G	donor_gain	1.0000
15:30136982:GGAT:G	donor_gain	1.0000
15:30136982:GGATG:G	donor_gain	1.0000
15:30136983:G:GT	donor_gain	1.0000
15:30136983:G:T	donor_gain	1.0000
15:30136983:GAT:G	donor_gain	1.0000
15:30136986:G:GG	donor_gain	1.0000
15:30137879:A:AG	acceptor_gain	1.0000
15:30137880:G:GG	acceptor_gain	1.0000
15:30138084:A:AG	acceptor_gain	1.0000
15:30138085:C:G	acceptor_gain	1.0000
15:30138089:T:A	acceptor_gain	1.0000
15:30138095:A:AG	acceptor_gain	1.0000
15:30138096:C:G	acceptor_gain	1.0000
15:30138108:T:A	acceptor_gain	1.0000
15:30138111:A:AG	acceptor_gain	1.0000
15:30138111:AT:A	acceptor_gain	1.0000
15:30138112:T:G	acceptor_gain	1.0000
15:30138115:A:AG	acceptor_gain	1.0000
15:30138116:C:G	acceptor_gain	1.0000
15:30138120:A:AG	acceptor_gain	1.0000
15:30138121:G:GG	acceptor_gain	1.0000
15:30138121:GA:G	acceptor_gain	1.0000
15:30138121:GAGC:G	acceptor_gain	1.0000
15:30138121:GAGCC:G	acceptor_gain	1.0000
15:30138200:CTGGT:C	donor_loss	1.0000

AlphaMissense

4171 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:30141892:T:C	L322P	0.838
15:30145220:T:C	F545L	0.838
15:30145222:C:A	F545L	0.838
15:30145222:C:G	F545L	0.838
15:30135185:G:C	A13P	0.809
15:30138201:T:C	L103P	0.807
15:30135190:G:C	K14N	0.796
15:30135190:G:T	K14N	0.796
15:30136871:A:C	K18N	0.788
15:30136871:A:T	K18N	0.788
15:30138180:T:C	L96P	0.786
15:30141112:G:C	W252C	0.784
15:30141112:G:T	W252C	0.784
15:30139702:T:C	L170P	0.781
15:30141871:T:C	L315P	0.753
15:30136867:T:C	L17S	0.749
15:30141110:T:A	W252R	0.744
15:30141110:T:C	W252R	0.744
15:30144845:T:C	F479L	0.731
15:30144847:C:A	F479L	0.731
15:30144847:C:G	F479L	0.731
15:30141859:T:C	L311P	0.723
15:30136876:A:C	Y20S	0.709
15:30135186:C:A	A13D	0.698
15:30141390:T:C	L280P	0.692
15:30139573:T:C	F159L	0.684
15:30139575:T:A	F159L	0.684
15:30139575:T:G	F159L	0.684
15:30140921:T:C	L224P	0.674
15:30136870:A:T	K18I	0.668

dbSNP variants (sampled 300 via entrez): RS1000178690 (15:30143324 A>T), RS1000397584 (15:30142507 C>A,G,T), RS1000510222 (15:30146642 A>G,T), RS1000728607 (15:30145942 G>A), RS1001622576 (15:30142089 C>T), RS1001833216 (15:30144601 G>A), RS1001949245 (15:30144955 G>A,C,T), RS1002399218 (15:30145697 T>C), RS1003033636 (15:30137054 T>C), RS1003071733 (15:30139738 G>A,C), RS1004405842 (15:30143925 A>G), RS1005143728 (15:30148064 A>C), RS1005360864 (15:30141873 G>C), RS1006537953 (15:30140634 G>A), RS1006758263 (15:30140047 G>C,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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
ethyl-p-hydroxybenzoate	decreases expression	1
fipronil	decreases expression, affects cotreatment	1
DEET	decreases expression, affects cotreatment	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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