GALNT14

Summary

GALNT14 (polypeptide N-acetylgalactosaminyltransferase 14, HGNC:22946) is a protein-coding gene on chromosome 2p23.1, encoding Polypeptide N-acetylgalactosaminyltransferase 14 (Q96FL9). Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy.

Source: NCBI Gene 79623 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 124 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_024572

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22946
Approved symbol	GALNT14
Name	polypeptide N-acetylgalactosaminyltransferase 14
Location	2p23.1
Locus type	gene with protein product
Status	Approved
Aliases	GalNac-T10, FLJ12691, GalNac-T14
Ensembl gene	ENSG00000158089
Ensembl biotype	protein_coding
OMIM	608225
Entrez	79623

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 9 protein_coding, 9 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000324589, ENST00000349752, ENST00000406653, ENST00000424136, ENST00000430167, ENST00000455477, ENST00000461193, ENST00000464038, ENST00000475320, ENST00000481023, ENST00000485468, ENST00000486564, ENST00000490212, ENST00000496397, ENST00000498206, ENST00000890111, ENST00000890112, ENST00000890113, ENST00000929072, ENST00000929073

RefSeq mRNA: 6 — MANE Select: NM_024572 NM_001253826, NM_001253827, NM_001329095, NM_001329096, NM_001329097, NM_024572

CCDS: CCDS1773, CCDS58705, CCDS58706

Canonical transcript exons

ENST00000349752 — 15 exons

Exon	Start	End
ENSE00001390586	31137958	31138440
ENSE00001481232	30924119	30924263
ENSE00001953846	30910467	30911059
ENSE00003481340	30958397	30958464
ENSE00003505538	30942201	30942304
ENSE00003516000	30929395	30929487
ENSE00003526038	30912223	30912342
ENSE00003552020	30955912	30955977
ENSE00003562858	30944858	30944942
ENSE00003576345	30992838	30993007
ENSE00003594292	30932068	30932194
ENSE00003677707	30945783	30945870
ENSE00003677927	30955618	30955739
ENSE00003680554	30966204	30966302
ENSE00003691709	30924740	30924823

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 95.21.

FANTOM5 (CAGE): breadth broad, TPM avg 6.4681 / max 148.4195, expressed in 859 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27674	3.4578	669
27672	2.0250	512
27675	0.3757	208
27677	0.3030	128
27678	0.1526	90
27676	0.0767	38
27679	0.0475	12
27673	0.0299	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	95.21	gold quality
adult mammalian kidney	UBERON:0000082	93.15	gold quality
nephron tubule	UBERON:0001231	93.11	gold quality
metanephros cortex	UBERON:0010533	92.47	gold quality
kidney epithelium	UBERON:0004819	91.61	gold quality
kidney	UBERON:0002113	90.26	gold quality
renal medulla	UBERON:0000362	90.08	gold quality
nasal cavity epithelium	UBERON:0005384	89.07	gold quality
renal glomerulus	UBERON:0000074	88.91	gold quality
lateral nuclear group of thalamus	UBERON:0002736	88.55	gold quality
cortex of kidney	UBERON:0001225	88.20	gold quality
metanephric glomerulus	UBERON:0004736	88.11	gold quality
metanephros	UBERON:0000081	86.61	gold quality
esophagus mucosa	UBERON:0002469	85.89	gold quality
endothelial cell	CL:0000115	85.69	silver quality
adult organism	UBERON:0007023	84.96	gold quality
epithelium of esophagus	UBERON:0001976	83.56	gold quality
periodontal ligament	UBERON:0008266	83.33	silver quality
germinal epithelium of ovary	UBERON:0001304	83.25	gold quality
esophagus squamous epithelium	UBERON:0006920	82.96	gold quality
cortical plate	UBERON:0005343	81.16	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.97	gold quality
nasal cavity mucosa	UBERON:0001826	80.00	gold quality
prefrontal cortex	UBERON:0000451	79.37	gold quality
ganglionic eminence	UBERON:0004023	79.27	gold quality
ventricular zone	UBERON:0003053	79.26	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	78.60	gold quality
tibia	UBERON:0000979	77.91	gold quality
squamous epithelium	UBERON:0006914	77.90	silver quality
palpebral conjunctiva	UBERON:0001812	77.82	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	18.12
E-ANND-3	yes	5.07

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXO1, MYCN, NR1I2

miRNA regulators (miRDB)

28 targeting GALNT14, 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-7152-3P	99.97	67.47	849
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-3606-5P	99.31	69.67	1168
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-8065	99.19	70.38	1289
HSA-MIR-12120	98.05	68.44	1768
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-1225-3P	97.29	64.60	876
HSA-MIR-6748-3P	97.20	65.66	836
HSA-MIR-6772-3P	97.04	65.89	784
HSA-MIR-12128	96.67	66.98	1471
HSA-MIR-4654	95.86	65.72	751
HSA-MIR-4515	95.70	65.73	716
HSA-MIR-4769-5P	95.37	66.09	570
HSA-MIR-4485-3P	93.21	62.11	61

Literature-anchored findings (GeneRIF, showing 22)

• cloning and characterization; results provide evidence that pp-GalNAc-T14 is a new member of the pp-GalNAc-T family and suggest that it may be involved in the O-glycosylation in kidney (PMID:12507512)
• The role of GalNAc-T14 as an intracellular mediator of the effects of IGFBP-3 need to be verified in future studies. (PMID:17434446)
• GALNT14 may be involved in regulating the apoptotic action of IGFBP-3. (PMID:19805900)
• GALNT14 and FUT3/6 H-scores were significantly higher in non-small cell lung cancer cell lines sensitive to dulanermin and drozitumab versus resistant cell lines (PMID:20179215)
• Results provide evidence that GalNAc-T14 may be a potential biomarker for breast cancer by immunohistochemistry. (PMID:20356418)
• Studies demonstrate that IGFBP-3 and GalNAc-T14 are colocalized in MCF-7 cells, and confirmed the interaction between IGFBP-3 and GalNAc-T14; these results reveal a minimal region of GalNAc-T14 that was sufficiently bound to the full-length IGFBP-3. (PMID:22441125)
• GALN14 genotype (rs9679162) was an effective predictor for therapeutic outcome in advanced hepatocellular carcinoma (HCC) patients treated by FMP chemotherapy. (PMID:23959947)
• GALNT14 stimulates MMP-2 expression. (PMID:24962947)
• Recurrence of mutation suggests GALNT14 as a novel gene potentially involved in neuroblastoma predisposition. (PMID:26309160)
• Expression of GalNAc-T14 or HOXB9 was strongly correlated with reduced recurrence-free survival in lung adenocarcinomas. (PMID:26544896)
• GALNT14 genotypes were significantly associated with clinical outcomes of transcatheter arterial chemoembolization. (PMID:26871639)
• The analysis showed that the “TT” genotype was associated with unfavorable overall survival (OS, P = 0.009). (PMID:27124048)
• miR-125a functions as tumor suppressor in ovarian cancer by targeting GALNT14. (PMID:27133078)
• Silencing of GALNT14 in osterix-overexpressed cells restored the decreased chemosensitivity. Conversely, overexpression of GALNT14 in osterix-knockdown cells abrogated the increased chemosensitivity in breast cancer cells. (PMID:29227978)
• Data indicate that BORIS may promote cell motility and invasion in HGSC via upregulation of GALNT14. Studies provide evidence that aberrant expression of BORIS may play a role in the progression to HGSC by enhancing the migratory and invasive properties of FTSEC. (PMID:31292201)
• A GALNT14 rs9679162 genotype-guided therapeutic strategy for advanced hepatocellular carcinoma: systemic or hepatic arterial infusion chemotherapy. (PMID:31611591)
• Effects of IGFBP-3 and GalNAc-T14 on proliferation and cell cycle of glioblastoma cells and its mechanism. (PMID:31713889)
• GALNT14: An Emerging Marker Capable of Predicting Therapeutic Outcomes in Multiple Cancers. (PMID:32098271)
• GALNT2/14 overexpression correlate with prognosis and methylation: potential therapeutic targets for lung adenocarcinoma. (PMID:33964375)
• GALNT14 regulates ferroptosis and apoptosis of ovarian cancer through the EGFR/mTOR pathway. (PMID:34643088)
• GALNT14-mediated O-glycosylation on PHB2 serine-161 enhances cell growth, migration and drug resistance by activating IGF1R cascade in hepatoma cells. (PMID:36376274)
• Potentially functional genetic variants in ferroptosis-related CREB3 and GALNT14 genes predict survival of hepatitis B virus-related hepatocellular carcinoma. (PMID:38151984)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	galnt14	ENSDARG00000023448
mus_musculus	Galnt14	ENSMUSG00000024064
rattus_norvegicus	Galnt14	ENSRNOG00000007951
drosophila_melanogaster	Pgant5	FBGN0031681
drosophila_melanogaster	Pgant9	FBGN0050463
caenorhabditis_elegans		WBGENE00001628
caenorhabditis_elegans		WBGENE00001630

Paralogs (19): GALNT16 (ENSG00000100626), GALNTL5 (ENSG00000106648), GALNT7 (ENSG00000109586), GALNT18 (ENSG00000110328), GALNT3 (ENSG00000115339), GALNT12 (ENSG00000119514), GALNT8 (ENSG00000130035), GALNT15 (ENSG00000131386), GALNT5 (ENSG00000136542), GALNT6 (ENSG00000139629), GALNT1 (ENSG00000141429), GALNT2 (ENSG00000143641), GALNT13 (ENSG00000144278), GALNT10 (ENSG00000164574), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT9 (ENSG00000182870), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)

Protein

Protein identifiers

Polypeptide N-acetylgalactosaminyltransferase 14 — Q96FL9 (reviewed: Q96FL9)

Alternative names: Polypeptide GalNAc transferase 14, Protein-UDP acetylgalactosaminyltransferase 14, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14

All UniProt accessions (4): Q96FL9, H7C168, H7C1E3, J3KQQ5

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays activity toward mucin-derived peptide substrates such as Muc2, Muc5AC, Muc7, and Muc13 (-58). May be involved in O-glycosylation in kidney.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Detected in renal tubules (at protein level). Highly expressed in fetal and adult kidney. Widely expressed at low level. Weakly expressed in whole brain, cerebellum, thymus, lung, mammary gland, liver, stomach, small intestine, colon, pancreas, spleen, bladder, uterus, placenta, testis, ovary, skeletal muscle, leukocyte, B-cell, bone marrow, fetal brain, fetal thymus, fetal lung, fetal liver, fetal small intestine, fetal spleen, fetal skeletal and fetus. Detected in renal tubules (at protein level).

Domain organisation. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding. The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.

Pathway. Protein modification; protein glycosylation.

Miscellaneous. Major isoform. Minor isoform.

Similarity. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96FL9-1	1	yes
Q96FL9-2	2
Q96FL9-3	3
Q96FL9-4	4

RefSeq proteins (6): NP_001240755, NP_001240756, NP_001316024, NP_001316025, NP_001316026, NP_078848* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000772	Ricin_B_lectin	Domain
IPR001173	Glyco_trans_2-like	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR035992	Ricin_B-like_lectins	Homologous_superfamily
IPR045885	GalNAc-T	Domain

Pfam: PF00535, PF00652

Enzyme classification (BRENDA):

• EC 2.4.1.41 — polypeptide N-acetylgalactosaminyltransferase (BRENDA: 21 organisms, 537 substrates, 86 inhibitors, 206 Km, 52 kcat entries)

Substrate kinetics (BRENDA)

71 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-GALNAC	0.0017–16	32
UDP-N-ACETYL-D-GALACTOSAMINE	0.008–0.081	11
PTTDSTTPAPTTK	0.042–1.02	7
GTTPSPVPTTSTTSAP	0.0259–0.344	5
MUC5AC-13	0.018–0.77	5
MUC5AC-3	0.033–0.107	5
STPSTPSTPSTPSTP	0.2–0.65	5
CPPTPSATTPAPPSSSAPPETTAA	0.01–0.48	4
DSTTPAPTTK	0.07–2.19	4
GTTPSPVPTTST[GALNAC]TSAP	0.115–0.46	4
GT[GALNAC]TPSPVPTTSTTSAP	0.035–0.332	4
UDP-GAL	0.027–0.041	4
GVVPTVVPG	1.74–17.6	3
IGA HINGE	0.01–0.02	3
IGA HINGE-4GALNAC	0.12–0.81	3

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + UDP + H(+) (RHEA:23956)
• L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + UDP + H(+) (RHEA:52424)

UniProt features (27 total): binding site 10, disulfide bond 5, splice variant 3, topological domain 2, region of interest 2, chain 1, transmembrane region 1, sequence variant 1, sequence conflict 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96FL9-F1	89.23	0.70

Functional residue map

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

Ligand- & substrate-binding residues (10): 200; 201; 305; 333; 336; 339; 341; 151; 176; 199

Disulfide bonds (5): 101–328, 319–397, 430–449, 476–493, 517–538

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-913709	O-linked glycosylation of mucins

MSigDB gene sets: 102 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, EFC_Q6, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, WAGNER_APO2_SENSITIVITY, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, AACTTT_UNKNOWN, BASAKI_YBX1_TARGETS_DN, DOUGLAS_BMI1_TARGETS_UP, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, RFX1_01, ZHANG_GATA6_TARGETS_DN

GO Biological Process (3): protein O-linked glycosylation (GO:0006493), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (5): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), carbohydrate binding (GO:0030246), metal ion binding (GO:0046872), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
O-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
protein O-linked glycosylation	1
acetylgalactosaminyltransferase activity	1
catalytic activity, acting on a protein	1
binding	1
cation binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

744 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALNT14	MUC13	Q9H3R2	811
GALNT14	MUC7	Q8TAX7	803
GALNT14	MUC5AC	P98088	698
GALNT14	MUC2	Q02817	685
GALNT14	C1GALT1	Q9NS00	544
GALNT14	CAPN14	A8MX76	506
GALNT14	C1GALT1C1	Q96EU7	502
GALNT14	BPIFA3	Q9BQP9	465
GALNT14	MAN1A1	P33908	447
GALNT14	SELPLG	Q14242	423
GALNT14	ST6GALNAC2	Q9UJ37	422
GALNT14	ST3GAL1	Q11201	389
GALNT14	GCNT3	O95395	384
GALNT14	MGAT5	Q09328	380
GALNT14	ST8SIA6	P61647	380

IntAct

30 interactions, top by confidence:

A	B	Type	Score
P2RX4	FAM20B	psi-mi:“MI:0914”(association)	0.640
SLC9A6	ALDH3A2	psi-mi:“MI:0914”(association)	0.530
GALNT14	PLEC	psi-mi:“MI:0915”(physical association)	0.400
P		psi-mi:“MI:0914”(association)	0.350
TMEM106A	TMEM131L	psi-mi:“MI:0914”(association)	0.350
UPK2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
BRICD5	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ASIC4	TMEM131L	psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
PRG2	QSOX1	psi-mi:“MI:0914”(association)	0.350
LYZL1	MAN2B1	psi-mi:“MI:0914”(association)	0.350
SLURP1	MAN2B1	psi-mi:“MI:0914”(association)	0.350
CNTNAP3	ADAM10	psi-mi:“MI:0914”(association)	0.350
ST8SIA5	CLGN	psi-mi:“MI:0914”(association)	0.350
C1orf54	QSOX1	psi-mi:“MI:0914”(association)	0.350
LCN6	HIGD1C	psi-mi:“MI:0914”(association)	0.350
SAAL1	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC30A1	PSMD11	psi-mi:“MI:0914”(association)	0.350
SLC30A10	GOLIM4	psi-mi:“MI:0914”(association)	0.350
SLC30A5	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A10	CASK	psi-mi:“MI:0914”(association)	0.350
SLC39A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A4	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC3A1	ILVBL	psi-mi:“MI:0914”(association)	0.350
SLC7A1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC9A6	GOLIM4	psi-mi:“MI:0914”(association)	0.350

BioGRID (35): GALNT14 (Affinity Capture-MS), GALNT14 (Proximity Label-MS), GALNT14 (Proximity Label-MS), MUC2 (Biochemical Activity), MUC7 (Biochemical Activity), MUC13 (Biochemical Activity), MUC5AC (Biochemical Activity), GALNT14 (Affinity Capture-RNA), GALNT14 (Proximity Label-MS), GALNT14 (Affinity Capture-MS), GALNT14 (Affinity Capture-MS), GALNT14 (Affinity Capture-MS), GALNT14 (Affinity Capture-MS), GALNT14 (Affinity Capture-MS), GALNT14 (Affinity Capture-MS)

ESM2 similar proteins: A8Y236, H0ZAB5, O08832, O08912, O45293, O45947, O61394, O61397, P34678, P70419, Q07537, Q10471, Q10472, Q10473, Q14435, Q29121, Q49A17, Q5EA41, Q5RFJ6, Q6DJR8, Q6P6V1, Q6P9S7, Q6PB93, Q6UE39, Q6WV16, Q6WV17, Q6WV19, Q6WV20, Q7K755, Q80VA0, Q86SF2, Q86SR1, Q8BVG5, Q8C7U7, Q8CF93, Q8I136, Q8IA42, Q8IUC8, Q8MRC9, Q8MV48

Diamond homologs: A8Y236, H0ZAB5, O08832, O08912, O45293, O45947, O61394, O61397, O88422, P34678, P70419, Q07537, Q10471, Q10472, Q10473, Q14435, Q29121, Q49A17, Q5EA41, Q5RFJ6, Q6DJR8, Q6IS24, Q6P6V1, Q6P9A2, Q6P9S7, Q6PB93, Q6UE39, Q6WV16, Q6WV17, Q6WV19, Q6WV20, Q7K755, Q7TT15, Q7Z4T8, Q7Z7M9, Q80VA0, Q86SF2, Q86SR1, Q8BGT9, Q8BVG5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
SLC-mediated transmembrane transport	5	11.0×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
zinc ion transmembrane transport	7	122.9×	2e-11
intracellular zinc ion homeostasis	7	84.3×	2e-10

Disease & clinical

Cancer significance

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	98
Likely benign	6
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
190462	NM_024572.4(GALNT14):c.1273C>T (p.Arg425Ter)	Pathogenic

SpliceAI

3664 predictions. Top by Δscore:

Variant	Effect	Δscore
2:30911055:CATTG:C	acceptor_gain	1.0000
2:30911056:ATTG:A	acceptor_gain	1.0000
2:30911057:TTG:T	acceptor_gain	1.0000
2:30911058:TG:T	acceptor_gain	1.0000
2:30911058:TGCT:T	acceptor_loss	1.0000
2:30911060:C:CC	acceptor_gain	1.0000
2:30911060:C:CG	acceptor_loss	1.0000
2:30911061:T:A	acceptor_loss	1.0000
2:30912219:TTA:T	donor_loss	1.0000
2:30912220:TA:T	donor_loss	1.0000
2:30912221:A:AC	donor_gain	1.0000
2:30912221:AC:A	donor_gain	1.0000
2:30912222:C:CT	donor_gain	1.0000
2:30912222:CC:C	donor_gain	1.0000
2:30912222:CCT:C	donor_gain	1.0000
2:30912222:CCTG:C	donor_gain	1.0000
2:30912222:CCTGT:C	donor_gain	1.0000
2:30912338:CATAC:C	acceptor_gain	1.0000
2:30912339:ATAC:A	acceptor_gain	1.0000
2:30912340:TAC:T	acceptor_gain	1.0000
2:30912340:TACCT:T	acceptor_loss	1.0000
2:30912341:AC:A	acceptor_gain	1.0000
2:30912341:ACCTG:A	acceptor_loss	1.0000
2:30912342:CC:C	acceptor_gain	1.0000
2:30912343:CT:C	acceptor_loss	1.0000
2:30912344:T:A	acceptor_loss	1.0000
2:30924839:T:C	acceptor_gain	1.0000
2:30924839:T:TC	acceptor_gain	1.0000
2:30924841:G:C	acceptor_gain	1.0000
2:30924841:G:GC	acceptor_gain	1.0000

AlphaMissense

3649 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:30932121:G:C	F335L	1.000
2:30932121:G:T	F335L	1.000
2:30932123:A:G	F335L	1.000
2:30932129:G:C	H333D	1.000
2:30942217:C:A	W305C	1.000
2:30942217:C:G	W305C	1.000
2:30942219:A:G	W305R	1.000
2:30942219:A:T	W305R	1.000
2:30944914:C:A	W257C	1.000
2:30944914:C:G	W257C	1.000
2:30911056:A:G	W502R	0.999
2:30911056:A:T	W502R	0.999
2:30929462:A:G	W362R	0.999
2:30929462:A:T	W362R	0.999
2:30929470:G:T	A359D	0.999
2:30929476:C:G	R357P	0.999
2:30929484:G:C	N354K	0.999
2:30929484:G:T	N354K	0.999
2:30932097:G:C	F343L	0.999
2:30932097:G:T	F343L	0.999
2:30932099:A:G	F343L	0.999
2:30932122:A:C	F335C	0.999
2:30932125:A:T	V334D	0.999
2:30932127:G:C	H333Q	0.999
2:30932127:G:T	H333Q	0.999
2:30932128:T:G	H333P	0.999
2:30932131:C:T	G332E	0.999
2:30932132:C:A	G332W	0.999
2:30932139:G:C	S329R	0.999
2:30932139:G:T	S329R	0.999

dbSNP variants (sampled 300 via entrez): RS1000000004 (2:31032286 T>C), RS1000001129 (2:31012765 A>G), RS1000013900 (2:31067320 C>A,T), RS1000014359 (2:30948915 C>A,T), RS1000017967 (2:30893349 A>T), RS1000018333 (2:31048534 T>G), RS1000024149 (2:31087834 T>C), RS1000047719 (2:30961129 A>G), RS1000060546 (2:30937891 C>T), RS1000070931 (2:31084722 A>G,T), RS1000075279 (2:31139820 G>A), RS1000084311 (2:31106197 C>T), RS1000087204 (2:31067465 C>A,T), RS1000119710 (2:30944392 G>A), RS1000142115 (2:31138403 G>A)

Disease associations

OMIM: gene MIM:608225 | disease phenotypes: MIM:236750, MIM:193250

GenCC curated gene-disease

Mondo (2): non-immune hydrops fetalis (MONDO:0009369), volvulus of midgut (MONDO:0008666)

Orphanet (3): Non-immune hydrops fetalis (Orphanet:363999), OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome (Orphanet:2454), Familial intestinal malrotation (Orphanet:508410)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001352_7	HIV-1 viral setpoint	9.000000e-06
GCST002560_2	Type 2 diabetes	2.000000e-07
GCST006458_1	Eye movement (horizontal position gain)	3.000000e-09
GCST010286_1	Oropharynx cancer	3.000000e-09
GCST011065_1	Levodopa-induced dyskinesia in levodopa treated Parkinson’s disease	8.000000e-09
GCST011387_2	Vaginal microbiome composition (L. iners)	2.000000e-06
GCST011387_3	Vaginal microbiome composition (L. iners)	4.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006319	HIV viral set point measurement
EFO:0010747	response to levodopa
EFO:0011013	vaginal microbiome measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C562456	Volvulus Of Midgut (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523427 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

4 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs12613732	Efficacy	3	cisplatin;fluorouracil;mitoxantrone	Hepatocellular Carcinoma
rs9679162	Efficacy	3	cisplatin;fluorouracil	Liver cancer
rs9679162	Efficacy	3	sorafenib	Hepatitis C virus infection;Liver cancer
rs9679162	Efficacy	3	cisplatin;fluorouracil;mitoxantrone	Hepatocellular Carcinoma;Liver cancer

PharmGKB variants

7 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs5009910	GALNT14		0.00	0
rs6752303	GALNT14		0.00	0
rs7608731	GALNT14		0.00	0
rs9679162	GALNT14	3	7.25	3	cisplatin;fluorouracil;sorafenib;cisplatin;fluorouracil;mitoxantrone
rs10209881	GALNT14		0.00	0
rs12613732	GALNT14	3	2.00	1	cisplatin;fluorouracil;mitoxantrone
rs12999804	GALNT14		0.00	0

ChEMBL bioactivities

1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.34	IC50	460	nM	CHEMBL6338

PubChem BioAssay actives

1 with measured affinity, of 1 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
3,4,8,9-tetrahydroxybenzo[c]chromen-6-one	1588074: Inhibition of catalytic activity of ppGalNAcT14 (unknown origin) using EA2 peptide as substrate incubated for 30 mins by HPLC-based enzyme assay	ic50	0.4600	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	3
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation, increases expression, increases methylation	3
mercuric bromide	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
sodium arsenite	decreases expression	1
potassium chromate(VI)	increases expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases reaction, increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	increases methylation	1
Acetaminophen	decreases expression	1
Vehicle Emissions	decreases reaction, increases expression	1
Cadmium	decreases expression	1
Carbamazepine	affects expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression, affects cotreatment	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4386619	Binding	Inhibition of catalytic activity of ppGalNAcT14 (unknown origin) using EA2 peptide as substrate incubated for 30 mins by HPLC-based enzyme assay	Inhibition of polypeptide N-acetyl-α-galactosaminyltransferases is an underlying mechanism of dietary polyphenols preventing colorectal tumorigenesis. — Bioorg Med Chem

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_F1S6	HyCyte NCI-H1703 KO-hGALNT14	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04308603	Not specified	COMPLETED	Multicentric Prospective Study to Screen Inborn Errors of Metabolism in Non-immune Hydrops (NIH) Fetalis by Massively Parallel Sequencing
NCT05528796	Not specified	ENROLLING_BY_INVITATION	Uncovering the Etiologies of Non-immune Hydrops Fetalis
NCT03356314	Not specified	COMPLETED	Prenatal Ultrasound Screening of Intestinal Malrotation With a Higher Risk of Volvulus