GLT8D2

Summary

GLT8D2 (glycosyltransferase 8 domain containing 2, HGNC:24890) is a protein-coding gene on chromosome 12q23.3, encoding Glycosyltransferase 8 domain-containing protein 2 (Q9H1C3).

Predicted to enable UDP-glycosyltransferase activity. Predicted to be located in membrane. Predicted to be active in Golgi apparatus.

Source: NCBI Gene 83468 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 45 total
• MANE Select transcript: NM_001384711

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24890
Approved symbol	GLT8D2
Name	glycosyltransferase 8 domain containing 2
Location	12q23.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ31494
Ensembl gene	ENSG00000120820
Ensembl biotype	protein_coding
Entrez	83468

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 16 protein_coding, 2 retained_intron

ENST00000360814, ENST00000546436, ENST00000546851, ENST00000547583, ENST00000548660, ENST00000550816, ENST00000552572, ENST00000879067, ENST00000879068, ENST00000879069, ENST00000879070, ENST00000879071, ENST00000911621, ENST00000911622, ENST00000951194, ENST00000951195, ENST00000951196, ENST00000951197

RefSeq mRNA: 13 — MANE Select: NM_001384711 NM_001316967, NM_001384711, NM_001384712, NM_001384713, NM_001384715, NM_001384716, NM_001384717, NM_001384718, NM_001384719, NM_001384720, NM_001384721, NM_001384722, NM_031302

CCDS: CCDS9096

Canonical transcript exons

ENST00000360814 — 11 exons

Exon	Start	End
ENSE00000818281	103994335	103994501
ENSE00000818282	103996735	103996847
ENSE00000818283	103997451	103997535
ENSE00000818284	103999397	103999514
ENSE00000937839	103993392	103993504
ENSE00001513416	104021357	104021491
ENSE00002423633	103988987	103989577
ENSE00003476670	104015013	104015105
ENSE00003575579	104019630	104019676
ENSE00003687747	104003135	104003306
ENSE00003910711	104049895	104050187

Expression profiles

Bgee: expression breadth ubiquitous, 247 present calls, max score 96.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0497 / max 90.2776, expressed in 953 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132990	4.3205	885
132989	2.5906	672
132988	0.1387	80

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tibia	UBERON:0000979	96.69	gold quality
parietal pleura	UBERON:0002400	95.98	gold quality
descending thoracic aorta	UBERON:0002345	95.79	gold quality
calcaneal tendon	UBERON:0003701	95.28	gold quality
right coronary artery	UBERON:0001625	95.08	gold quality
urethra	UBERON:0000057	94.73	gold quality
gall bladder	UBERON:0002110	94.58	gold quality
mammary duct	UBERON:0001765	94.21	gold quality
cartilage tissue	UBERON:0002418	94.09	gold quality
thoracic aorta	UBERON:0001515	94.08	gold quality
ascending aorta	UBERON:0001496	93.98	gold quality
stromal cell of endometrium	CL:0002255	93.80	gold quality
synovial joint	UBERON:0002217	93.67	gold quality
right ovary	UBERON:0002118	93.04	gold quality
left ovary	UBERON:0002119	93.01	gold quality
pericardium	UBERON:0002407	92.99	gold quality
pleura	UBERON:0000977	92.97	gold quality
coronary artery	UBERON:0001621	92.79	gold quality
left coronary artery	UBERON:0001626	92.60	gold quality
dorsal root ganglion	UBERON:0000044	92.59	gold quality
layer of synovial tissue	UBERON:0007616	92.54	gold quality
vena cava	UBERON:0004087	92.53	gold quality
aorta	UBERON:0000947	92.36	gold quality
endocervix	UBERON:0000458	92.14	gold quality
epithelium of mammary gland	UBERON:0003244	92.14	gold quality
left uterine tube	UBERON:0001303	91.95	gold quality
trigeminal ganglion	UBERON:0001675	91.41	gold quality
smooth muscle tissue	UBERON:0001135	91.16	gold quality
popliteal artery	UBERON:0002250	91.05	gold quality
tibial artery	UBERON:0007610	91.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

34 targeting GLT8D2, 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-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-7845-5P	99.88	64.88	771
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
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-6833-5P	99.50	68.93	1161
HSA-MIR-4666A-5P	99.41	69.72	1887
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-4752	98.71	68.04	833
HSA-MIR-3691-5P	98.62	65.88	552
HSA-MIR-376B-5P	98.46	66.40	606
HSA-MIR-376C-5P	98.46	66.64	589
HSA-MIR-6792-5P	98.39	68.16	1330
HSA-MIR-4704-3P	98.28	69.33	1300
HSA-MIR-4715-5P	97.62	67.47	506

Literature-anchored findings (GeneRIF, showing 5)

• Based on these results, we propose that GLT8D2 is a glycosyltransferase of apoB100 that regulates apoB100 levels in hepatocytes (PMID:24173238)
• role in nonalcoholic fatty liver disease pathogenesis possibly by negatively regulating MTP expression (PMID:25952508)
• High glycosyltransferase 8 domain containing two protein levels contribute to poor prognosis in urothelial carcinoma. (PMID:34374132)
• Glycosyltransferase GLT8D1 and GLT8D2 serve as potential prognostic biomarkers correlated with Tumor Immunity in Gastric Cancer. (PMID:37277853)
• GLT8D2 is a prognostic biomarker and regulator of immune cell infiltration in gastric cancer. (PMID:38840920)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	glt8d2	ENSDARG00000057942
mus_musculus	Glt8d2	ENSMUSG00000020251
rattus_norvegicus	Glt8d2	ENSRNOG00000033579

Paralogs (1): GLT8D1 (ENSG00000016864)

Protein

Protein identifiers

Glycosyltransferase 8 domain-containing protein 2 — Q9H1C3 (reviewed: Q9H1C3)

All UniProt accessions (3): Q9H1C3, F8VU19, F8VZP2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the glycosyltransferase 8 family.

RefSeq proteins (13): NP_001303896, NP_001371640, NP_001371641, NP_001371642, NP_001371644, NP_001371645, NP_001371646, NP_001371647, NP_001371648, NP_001371649, NP_001371650, NP_001371651, NP_112592 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002495	Glyco_trans_8	Family
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR050748	Glycosyltrans_8_dom-fam	Family

Pfam: PF01501

UniProt features (8 total): topological domain 2, sequence conflict 2, chain 1, transmembrane region 1, glycosylation site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H1C3-F1	88.41	0.72

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 234

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 117 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, TGCTGAY_UNKNOWN, WONG_ENDMETRIUM_CANCER_DN, RIGGI_EWING_SARCOMA_PROGENITOR_DN, TGANTCA_AP1_C, PU1_Q6, RGAGGAARY_PU1_Q6, MODULE_48, RICKMAN_TUMOR_DIFFERENTIATED_MODERATELY_VS_POORLY_UP, MODULE_95, YNGTTNNNATT_UNKNOWN, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, PAX2_02

GO Biological Process (0):

GO Molecular Function (3): UDP-glycosyltransferase activity (GO:0008194), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (2): Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycosyltransferase activity	1
catalytic activity	1
transferase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

858 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GLT8D2	TMEM248	Q9NWD8	479
GLT8D2	FIBIN	Q8TAL6	476
GLT8D2	LCN12	Q6JVE5	453
GLT8D2	SUSD5	O60279	448
GLT8D2	ARHGAP20	Q9P2F6	436
GLT8D2	ECM2	O94769	431
GLT8D2	VKORC1L1	Q8N0U8	430
GLT8D2	IBTK	Q9P2D0	429
GLT8D2	ZNF469	Q96JG9	419
GLT8D2	ADAMTS6	Q9UKP5	399
GLT8D2	B3GALT2	O43825	373
GLT8D2	LRRK1	Q38SD2	357
GLT8D2	TENT5A	Q96IP4	348
GLT8D2	HS3ST3B1	Q9Y662	348
GLT8D2	RASL10A	Q92737	341

IntAct

27 interactions, top by confidence:

A	B	Type	Score
ATXN7L3	USP27X	psi-mi:“MI:0914”(association)	0.640
MME	TMEM223	psi-mi:“MI:0914”(association)	0.530
MGAT4C	GXYLT2	psi-mi:“MI:0914”(association)	0.530
FUT1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
CHRNA4	FZD6	psi-mi:“MI:0914”(association)	0.530
GLT8D2	HNRNPCL2	psi-mi:“MI:0915”(physical association)	0.400
GLT8D2	ATP2A3	psi-mi:“MI:0915”(physical association)	0.400
CHRNA3	TMEM223	psi-mi:“MI:0914”(association)	0.350
GLT8D2	QSOX1	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
PSCA	METTL15	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
CHRNB4	GPR89A	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350
GDPD5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SLC30A10	GOLIM4	psi-mi:“MI:0914”(association)	0.350
SLC39A4	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC7A1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (42): BNIP1 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), OSBPL8 (Affinity Capture-MS), RMND1 (Affinity Capture-MS), CACNA2D1 (Affinity Capture-MS), EIF2AK3 (Affinity Capture-MS), QSOX1 (Affinity Capture-MS), LRFN3 (Affinity Capture-MS), CHST7 (Affinity Capture-MS), GLT8D2 (Affinity Capture-MS), GLT8D2 (Affinity Capture-MS), GLT8D2 (Affinity Capture-MS), QSOX1 (Affinity Capture-MS), GLT8D2 (Affinity Capture-MS), RMND1 (Affinity Capture-MS)

ESM2 similar proteins: A7XDQ9, B1WB06, B9SLR1, F4HXW9, F4I6V0, O43909, P97259, Q08834, Q09328, Q0WPA5, Q28I33, Q2HJ96, Q3E6Y3, Q4R3U7, Q5NDE5, Q5NDE6, Q5NDE7, Q5NDL0, Q5U3H3, Q640P4, Q66PG1, Q66PG2, Q68CQ7, Q6DJM3, Q6NMK1, Q6YRM6, Q8GUM0, Q8GXG6, Q8H1E6, Q8L7F9, Q8LPF8, Q8R4G6, Q8RX55, Q8RY81, Q8VXZ5, Q8W486, Q9ASW1, Q9C9Q5, Q9FMW3, Q9FXA7

Diamond homologs: Q28I33, Q2HJ96, Q4R3U7, Q5E9E7, Q5U3H3, Q640P4, Q68CQ7, Q6AYF6, Q6DJM3, Q6NSU3, Q8L4B0, Q8VYF4, Q93ZX7, Q9FWA4, Q9H1C3, O04253, Q9FWY9, Q0WQD2, Q949Q1, Q9LE59, O04536, Q9LN68, O48684, Q0WV13, Q8GWT1, Q8RXE1, Q9FH36, Q9LHD2, Q9LSG3, Q9M8J2, Q9M9Y5, Q9SKT6, Q9ZPZ1, Q9ZVI7, Q0V7R1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1864 predictions. Top by Δscore:

Variant	Effect	Δscore
12:103989581:CAT:C	acceptor_gain	1.0000
12:103989583:T:C	acceptor_gain	1.0000
12:103989583:T:TC	acceptor_gain	1.0000
12:103989585:G:GC	acceptor_gain	1.0000
12:103989587:G:GC	acceptor_gain	1.0000
12:103989589:A:AC	acceptor_gain	1.0000
12:103989589:A:C	acceptor_gain	1.0000
12:103991695:A:AC	donor_gain	1.0000
12:103991695:ACTTC:A	donor_gain	1.0000
12:103991696:C:CC	donor_gain	1.0000
12:103991696:CTTCC:C	donor_gain	1.0000
12:103991698:T:TA	donor_gain	1.0000
12:103991699:C:A	donor_gain	1.0000
12:103994330:CGTA:C	donor_gain	1.0000
12:103994333:A:AC	donor_gain	1.0000
12:103994333:ACT:A	donor_gain	1.0000
12:103994333:ACTC:A	donor_gain	1.0000
12:103994334:C:CT	donor_gain	1.0000
12:103994334:CT:C	donor_gain	1.0000
12:103994334:CTC:C	donor_gain	1.0000
12:103994334:CTCC:C	donor_gain	1.0000
12:103994334:CTCCA:C	donor_gain	1.0000
12:103994336:C:CA	donor_gain	1.0000
12:103994498:TGTT:T	acceptor_gain	1.0000
12:104003130:CTTA:C	donor_loss	1.0000
12:104003131:TTA:T	donor_loss	1.0000
12:104003132:TAC:T	donor_loss	1.0000
12:104003133:A:AC	donor_gain	1.0000
12:104003133:AC:A	donor_gain	1.0000
12:104003134:C:CA	donor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000076763 (12:104024380 C>A), RS1000180409 (12:104061405 G>A,T), RS1000183104 (12:104030058 T>G), RS1000206894 (12:104065731 G>A), RS1000228046 (12:104021351 A>G), RS1000256481 (12:104001900 C>T), RS1000295515 (12:104054596 C>T), RS1000353843 (12:104048291 C>T), RS1000422564 (12:104001204 G>A,C), RS1000449866 (12:104020153 C>G), RS1000488113 (12:104048464 G>A), RS1000514791 (12:104060093 T>C), RS1000575728 (12:104066073 T>C,G), RS1000581868 (12:104011037 T>A), RS1000740440 (12:104027313 G>A)

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

6 associations (top):

Study	Trait	p-value
GCST001623_4	Hepatitis C induced liver fibrosis	1.000000e-07
GCST001806_17	Corneal structure	2.000000e-10
GCST005580_36	Intraocular pressure	4.000000e-13
GCST005667_22	Central corneal thickness	5.000000e-10
GCST005667_30	Central corneal thickness	2.000000e-17
GCST90000654_51	Central corneal thickness	5.000000e-25

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004345	corneal topography
EFO:0004695	intraocular pressure measurement
EFO:0005213	central corneal thickness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	7
trichostatin A	affects cotreatment, increases expression	3
entinostat	increases expression, affects cotreatment	2
Nickel	decreases expression	2
Cadmium Chloride	increases expression, increases abundance	2
TAK-243	decreases sumoylation	1
methylmercuric chloride	decreases expression	1
bisphenol A	increases methylation, affects cotreatment	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
belinostat	decreases expression	1
dorsomorphin	increases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Vorinostat	affects cotreatment, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arbutin	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	increases abundance, increases expression	1
Calcitriol	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Methapyrilene	decreases methylation	1
Silicon Dioxide	decreases expression	1
Testosterone	increases expression	1
Tretinoin	increases expression	1

Clinical trials (associated diseases)

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