GOLGA8Q

Summary

GOLGA8Q (golgin A8 family member Q, HGNC:44408) is a protein-coding gene on chromosome 15q13.2, encoding Golgin subfamily A member 8Q (H3BV12).

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 727909 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001355476

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44408
Approved symbol	GOLGA8Q
Name	golgin A8 family member Q
Location	15q13.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000178115
Ensembl biotype	protein_coding
Entrez	727909

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000562783, ENST00000565941

RefSeq mRNA: 1 — MANE Select: NM_001355476 NM_001355476

CCDS: CCDS86441

Canonical transcript exons

ENST00000562783 — 19 exons

Exon	Start	End
ENSE00001615980	30554801	30554860
ENSE00001628574	30555042	30555122
ENSE00001767625	30553792	30553911
ENSE00002577347	30555974	30556012
ENSE00002580219	30560536	30560611
ENSE00002583039	30556411	30556495
ENSE00002586184	30562085	30562240
ENSE00002586541	30561892	30561989
ENSE00002587027	30559223	30559291
ENSE00002596003	30561043	30561134
ENSE00002604600	30561709	30561809
ENSE00002604635	30552050	30552125
ENSE00002605488	30556275	30556322
ENSE00002607734	30557751	30557837
ENSE00002614527	30556591	30556700
ENSE00002615350	30562326	30565684
ENSE00002620829	30557944	30558051
ENSE00003493577	30558247	30558334
ENSE00003649193	30558711	30558967

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 86.41.

Top tissues by expression

133 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	86.41	gold quality
right lobe of thyroid gland	UBERON:0001119	76.10	gold quality
thyroid gland	UBERON:0002046	73.40	gold quality
left lobe of thyroid gland	UBERON:0001120	73.00	gold quality
apex of heart	UBERON:0002098	71.29	gold quality
stromal cell of endometrium	CL:0002255	68.72	gold quality
testis	UBERON:0000473	68.30	gold quality
left testis	UBERON:0004533	68.29	gold quality
calcaneal tendon	UBERON:0003701	68.24	gold quality
granulocyte	CL:0000094	68.04	gold quality
right testis	UBERON:0004534	67.84	gold quality
left ovary	UBERON:0002119	66.92	gold quality
descending thoracic aorta	UBERON:0002345	66.81	gold quality
ovary	UBERON:0000992	66.10	gold quality
right coronary artery	UBERON:0001625	66.03	gold quality
mucosa of stomach	UBERON:0001199	65.19	gold quality
thoracic aorta	UBERON:0001515	64.87	gold quality
ascending aorta	UBERON:0001496	64.80	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	64.77	gold quality
popliteal artery	UBERON:0002250	64.35	gold quality
tibial artery	UBERON:0007610	64.30	gold quality
right ovary	UBERON:0002118	63.71	gold quality
body of uterus	UBERON:0009853	63.58	gold quality
pituitary gland	UBERON:0000007	62.97	gold quality
skeletal muscle tissue	UBERON:0001134	62.82	gold quality
heart left ventricle	UBERON:0002084	62.62	gold quality
left coronary artery	UBERON:0001626	62.47	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	61.92	gold quality
right atrium auricular region	UBERON:0006631	61.72	gold quality
bone marrow	UBERON:0002371	61.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.93

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), 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 8Q — H3BV12 (reviewed: H3BV12)

All UniProt accessions (1): H3BV12

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the GOLGA8 family.

RefSeq proteins (1): NP_001342405* (*=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 (9 total): region of interest 4, coiled-coil region 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-H3BV12-F1	71.37	0.40

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 33 (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
GOLGA8Q	FAM86B2	P0C5J1	571
GOLGA8Q	GTF3C6	Q969F1	530
GOLGA8Q	MTMR10	Q9NXD2	473
GOLGA8Q	GTF3C5	Q9Y5Q8	448
GOLGA8Q	TRMT5	Q32P41	418
GOLGA8Q	RIMBP3C	A6NJZ7	417
GOLGA8Q	GPHRA	B7ZAQ6	406
GOLGA8Q	CCDC82	Q8N4S0	399
GOLGA8Q	OTUD7A	Q8TE49	395
GOLGA8Q	PCYT2	Q99447	371
GOLGA8Q	TRMT6	Q9UJA5	370
GOLGA8Q	TMED2	Q15363	358
GOLGA8Q	DHX38	Q92620	358
GOLGA8Q	COMMD2	Q86X83	356
GOLGA8Q	RAPGEFL1	Q9UHV5	350

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A2VD12, A6NCC3, A6NN73, A6QLY7, D6RF30, E1U8D0, F8WBI6, H3BPF8, H3BQL2, H3BSY2, H3BV12, I6L899, O75154, P0DX52, P0DX53, P10354, Q0D2H9, Q0KK56, Q2NL23, Q2TAC2, Q2YDF7, Q3MI48, Q3TVI8, Q3UHU5, Q3UPH7, Q5DU05, Q5JYT7, Q5R6R3, Q5SX79, Q640L3, Q6P2H3, Q6PHN1, Q7Z591, Q7Z6P3, Q80VW7, Q8BWG4, Q8CB62, Q8CB87, Q8IY92, Q8N137

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2576 predictions. Top by Δscore:

Variant	Effect	Δscore
15:30553790:A:AG	acceptor_gain	1.0000
15:30553791:G:GG	acceptor_gain	1.0000
15:30553907:GGGAT:G	donor_gain	1.0000
15:30553908:GGAT:G	donor_gain	1.0000
15:30553908:GGATG:G	donor_gain	1.0000
15:30553909:G:GT	donor_gain	1.0000
15:30553909:GAT:G	donor_gain	1.0000
15:30553912:G:GG	donor_gain	1.0000
15:30554799:A:AG	acceptor_gain	1.0000
15:30554800:G:GG	acceptor_gain	1.0000
15:30555004:A:AG	acceptor_gain	1.0000
15:30555005:C:G	acceptor_gain	1.0000
15:30555009:T:A	acceptor_gain	1.0000
15:30555015:A:AG	acceptor_gain	1.0000
15:30555016:C:G	acceptor_gain	1.0000
15:30555028:T:TA	acceptor_gain	1.0000
15:30555031:A:AG	acceptor_gain	1.0000
15:30555031:AT:A	acceptor_gain	1.0000
15:30555032:T:G	acceptor_gain	1.0000
15:30555032:T:TA	acceptor_gain	1.0000
15:30555035:A:AG	acceptor_gain	1.0000
15:30555036:C:G	acceptor_gain	1.0000
15:30555039:CAGA:C	acceptor_loss	1.0000
15:30555040:A:AG	acceptor_gain	1.0000
15:30555040:A:C	acceptor_loss	1.0000
15:30555041:G:GT	acceptor_gain	1.0000
15:30555041:GA:G	acceptor_gain	1.0000
15:30555041:GAGC:G	acceptor_gain	1.0000
15:30555041:GAGCC:G	acceptor_gain	1.0000
15:30555118:CTTTG:C	donor_gain	1.0000

AlphaMissense

4163 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:30558801:T:C	L322P	0.906
15:30552114:G:C	A13P	0.852
15:30558780:T:C	L315P	0.842
15:30558768:T:C	L311P	0.833
15:30553793:T:C	L17S	0.822
15:30562153:T:C	F546L	0.815
15:30562155:C:A	F546L	0.815
15:30562155:C:G	F546L	0.815
15:30552119:G:C	K14N	0.810
15:30552119:G:T	K14N	0.810
15:30553797:A:C	K18N	0.808
15:30553797:A:T	K18N	0.808
15:30562466:T:C	F622L	0.802
15:30562468:T:A	F622L	0.802
15:30562468:T:G	F622L	0.802
15:30555100:T:C	L96P	0.789
15:30561778:T:C	F480L	0.786
15:30561780:C:A	F480L	0.786
15:30561780:C:G	F480L	0.786
15:30558021:G:C	W252C	0.770
15:30558021:G:T	W252C	0.770
15:30556005:T:C	L114P	0.765
15:30556418:T:C	I135T	0.758
15:30556618:T:C	L170P	0.757
15:30558885:T:C	L350P	0.747
15:30552115:C:A	A13D	0.745
15:30558956:T:C	F374L	0.743
15:30558958:C:A	F374L	0.743
15:30558958:C:G	F374L	0.743
15:30558299:T:C	L280P	0.735

dbSNP variants (sampled 300 via entrez): RS1000043535 (15:30559619 A>G), RS1000978599 (15:30558009 G>A,C), RS1001375322 (15:30554967 C>A,T), RS1001885075 (15:30556166 T>G), RS1003973661 (15:30551890 A>C,G), RS1004798618 (15:30563678 A>T), RS1004850881 (15:30561622 G>T), RS1005804950 (15:30555624 G>A,T), RS1005856220 (15:30554903 C>T), RS1007342155 (15:30552021 G>C), RS1007747968 (15:30554108 C>T), RS1009700180 (15:30551965 C>A,G,T), RS1010165756 (15:30550457 C>G), RS1010445516 (15:30557816 G>A,T), RS1014422449 (15:30565296 A>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

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

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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