GFOD1

Summary

GFOD1 (Gfo/Idh/MocA-like oxidoreductase domain containing 1, HGNC:21096) is a protein-coding gene on chromosome 6p24.1-p23, encoding Glucose-fructose oxidoreductase domain-containing protein 1 (Q9NXC2). Probably catalytically inactive enzyme.

Enables identical protein binding activity. Predicted to be located in extracellular region.

Source: NCBI Gene 54438 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 34 total
• MANE Select transcript: NM_018988

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21096
Approved symbol	GFOD1
Name	Gfo/Idh/MocA-like oxidoreductase domain containing 1
Location	6p24.1-p23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20330, ADG-90
Ensembl gene	ENSG00000145990
Ensembl biotype	protein_coding
OMIM	619932
Entrez	54438

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000379278, ENST00000379284, ENST00000379287, ENST00000603223, ENST00000605067, ENST00000612338

RefSeq mRNA: 4 — MANE Select: NM_018988 NM_001242628, NM_001242629, NM_001242630, NM_018988

CCDS: CCDS4524, CCDS56397, CCDS64351

Canonical transcript exons

ENST00000379287 — 2 exons

Exon	Start	End
ENSE00001480378	13486638	13487600
ENSE00003685747	13357830	13365662

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 97.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4669 / max 142.1980, expressed in 1435 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
71834	3.4008	1133
71832	2.7284	1073
71831	0.3060	122
71833	0.0318	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar vermis	UBERON:0004720	97.89	gold quality
middle temporal gyrus	UBERON:0002771	97.25	gold quality
parietal lobe	UBERON:0001872	97.02	gold quality
postcentral gyrus	UBERON:0002581	96.74	gold quality
pons	UBERON:0000988	96.73	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.02	gold quality
orbitofrontal cortex	UBERON:0004167	95.98	gold quality
CA1 field of hippocampus	UBERON:0003881	95.90	gold quality
superior frontal gyrus	UBERON:0002661	95.78	gold quality
Brodmann (1909) area 23	UBERON:0013554	95.72	gold quality
superior vestibular nucleus	UBERON:0007227	95.68	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.05	gold quality
lower lobe of lung	UBERON:0008949	94.86	gold quality
dorsal root ganglion	UBERON:0000044	94.82	gold quality
entorhinal cortex	UBERON:0002728	94.81	gold quality
ventral tegmental area	UBERON:0002691	94.68	gold quality
myocardium	UBERON:0002349	94.27	gold quality
left ventricle myocardium	UBERON:0006566	94.21	gold quality
body of tongue	UBERON:0011876	94.21	gold quality
substantia nigra pars compacta	UBERON:0001965	94.05	gold quality
medulla oblongata	UBERON:0001896	93.86	gold quality
vena cava	UBERON:0004087	93.71	gold quality
occipital lobe	UBERON:0002021	93.68	gold quality
lateral nuclear group of thalamus	UBERON:0002736	93.68	gold quality
buccal mucosa cell	CL:0002336	93.02	gold quality
lateral globus pallidus	UBERON:0002476	93.00	gold quality
heart right ventricle	UBERON:0002080	92.97	gold quality
substantia nigra pars reticulata	UBERON:0001966	92.41	gold quality
tongue	UBERON:0001723	92.39	gold quality
inferior vagus X ganglion	UBERON:0005363	92.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.38

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting GFOD1, 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-10401-5P	99.99	65.79	948
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-6727-3P	99.49	65.92	1333
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-4722-3P	99.35	65.22	1099
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-5572	98.55	65.84	970
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-4684-5P	98.29	67.99	1650
HSA-MIR-6841-3P	98.08	66.54	604

Literature-anchored findings (GeneRIF, showing 2)

• Authors found the expression of peejar was positively correlated with the expression of GFOD1 in ccRCC tissue, with Pearson correlation coefficiency reaching 0.939 (p < 0.001). GFOD1 and peejar were novel genes correlated with ccRCC disease progression and patients’ poor prognosis. (PMID:27191742)
• three overlapping genes (FGFBP2, GFOD1 and MLC1) between two modules could potentially have a role in acute myocardial infarction and have diagnostic potential (PMID:30683112)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	gfod1	ENSDARG00000061363
mus_musculus	Gfod1	ENSMUSG00000051335
rattus_norvegicus	Gfod1	ENSRNOG00000068332
drosophila_melanogaster	CG17712	FBGN0027597

Paralogs (3): DHDH (ENSG00000104808), BLVRA (ENSG00000106605), GFOD2 (ENSG00000141098)

Protein

Protein identifiers

Glucose-fructose oxidoreductase domain-containing protein 1 — Q9NXC2 (reviewed: Q9NXC2)

Alternative names: Gfo/Idh/MocA-like oxidoreductase domain-containing protein 1

All UniProt accessions (2): Q9NXC2, S4R302

UniProt curated annotations — full annotation on UniProt →

Function. Probably catalytically inactive enzyme. Does not bind NAD or NADP.

Subunit / interactions. Homodimer. Interacts with NKIRAS2.

Subcellular location. Secreted.

Miscellaneous. Dubious isoform.

Similarity. Belongs to the Gfo/Idh/MocA family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9NXC2-1	1	yes
Q9NXC2-2	2
Q9NXC2-3	3

RefSeq proteins (4): NP_001229557, NP_001229558, NP_001229559, NP_061861* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000683	Gfo/Idh/MocA-like_OxRdtase_N	Domain
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily
IPR050463	Gfo/Idh/MocA_oxidrdct_glycsds	Family
IPR055170	GFO_IDH_MocA-like_dom	Domain

Pfam: PF01408, PF22725

UniProt features (40 total): strand 16, helix 14, turn 3, splice variant 2, mutagenesis site 2, signal peptide 1, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
8Y7P	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NXC2-F1	92.65	0.82

Functional residue map

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

Mutagenesis-validated functional residues (2):

Position	Phenotype
160	impairs the interaction with nkiras2.
388	does not affect interaction with nkiras2.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9013406	RHOQ GTPase cycle

MSigDB gene sets: 196 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, SHAFFER_IRF4_TARGETS_IN_ACTIVATED_B_LYMPHOCYTE, WEI_MYCN_TARGETS_WITH_E_BOX, CAIRO_HEPATOBLASTOMA_CLASSES_DN, RICKMAN_METASTASIS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, KUNINGER_IGF1_VS_PDGFB_TARGETS_DN, BOQUEST_STEM_CELL_DN, HAMAI_APOPTOSIS_VIA_TRAIL_DN, TGGAAA_NFAT_Q4_01

GO Biological Process (0):

GO Molecular Function (3): nucleotide binding (GO:0000166), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (1): extracellular region (GO:0005576)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleoside phosphate binding	1
heterocyclic compound binding	1
protein binding	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1232 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GFOD1	KRTAP20-4	Q3LI62	724
GFOD1	CDH13	P55290	477
GFOD1	PHACTR1	Q9C0D0	465
GFOD1	ARHGAP42	A6NI28	456
GFOD1	HIVEP1	P15822	438
GFOD1	SLC9A9	Q8IVB4	380
GFOD1	LYSMD1	Q96S90	366
GFOD1	ZNF532	Q9HCE3	362
GFOD1	RFESD	Q8TAC1	358
GFOD1	SLC35D2	Q76EJ3	342
GFOD1	RHBG	Q9H310	342
GFOD1	GDPGP1	Q6ZNW5	326
GFOD1	TGDS	O95455	325
GFOD1	FBXO33	Q7Z6M2	322
GFOD1	DRD5	P21918	321
GFOD1	DNAJB5	O75953	321

IntAct

99 interactions, top by confidence:

A	B	Type	Score
MAGEA6	GFOD1	psi-mi:“MI:0915”(physical association)	0.780
SLMAP	STRN	psi-mi:“MI:2364”(proximity)	0.710
FAM9B	GFOD1	psi-mi:“MI:0915”(physical association)	0.670
GFOD1	FAM9B	psi-mi:“MI:0915”(physical association)	0.670
GFOD1		psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	GFOD1	psi-mi:“MI:0915”(physical association)	0.560
KRT31	GFOD1	psi-mi:“MI:0915”(physical association)	0.560
KRT40	GFOD1	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLA	GFOD1	psi-mi:“MI:0915”(physical association)	0.560
GFOD1	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560
GFOD1	KRT31	psi-mi:“MI:0915”(physical association)	0.560
GFOD1	KRT40	psi-mi:“MI:0915”(physical association)	0.560
GFOD1	NOTCH2NLA	psi-mi:“MI:0915”(physical association)	0.560
GFOD1	HSF4	psi-mi:“MI:0915”(physical association)	0.560
CRYAA	GFOD1	psi-mi:“MI:0915”(physical association)	0.560
GFOD1	DMWD	psi-mi:“MI:0915”(physical association)	0.560
GRN	GFOD1	psi-mi:“MI:0915”(physical association)	0.560
GFOD1	HSPB1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (101): GFOD1 (Two-hybrid), GFOD1 (Two-hybrid), GFOD1 (Two-hybrid), KRT40 (Two-hybrid), FAM9B (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), GFOD2 (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), POLR1B (Affinity Capture-MS), RALGAPA1 (Affinity Capture-MS), RALGAPA2 (Affinity Capture-MS), ESPL1 (Affinity Capture-MS), RALGAPB (Affinity Capture-MS)

ESM2 similar proteins: A0A1L9WUI4, A0A829NF98, A0M5W6, A1WXM7, A5IZ80, A6L1Z2, A7B558, A7TZT2, A7ZAH7, A8FRR2, A9KD88, A9KHK4, A9KTB9, B4ETL7, B6J3R0, B6J6H1, C7TMK0, O34371, O76757, P06720, P19410, P32370, P39353, P39641, P42418, P55609, P71011, P94437, Q3A392, Q3M7G3, Q48924, Q54728, Q56184, Q56839, Q5BIP5, Q5BKK6, Q7TTZ5, Q7X2C7, Q7ZY75, Q83A77

Diamond homologs: A0A024SMV2, A1R665, A4QAF9, A7ZAH5, B7JA34, C0ZWI9, C1DLA8, C3MH72, C5BYN4, F0M433, O05265, O13991, O32223, O42896, P11886, P26935, P37168, P46844, P46853, P49305, P53004, P75931, P77376, P94437, Q04869, Q3UHD2, Q6AC27, Q88S38, Q8NTY7, Q9ALN5, Q9NXC2, Q9UT60, Q9WYP5, Q9ZA33, Q3B7J2, Q5BIP5, Q5BKK6, Q6P4M5, Q7ZY75, Q9CYH5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 38 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.

GO biological processes:

GO term	Partners	Fold	FDR
protein stabilization	6	11.2×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1883 predictions. Top by Δscore:

Variant	Effect	Δscore
6:13364760:T:TA	donor_gain	1.0000
6:13484393:T:TA	donor_gain	1.0000
6:13364686:C:A	donor_gain	0.9900
6:13365659:ATGCC:A	acceptor_loss	0.9900
6:13365660:TGC:T	acceptor_gain	0.9900
6:13365661:GCC:G	acceptor_loss	0.9900
6:13365662:CCTG:C	acceptor_loss	0.9900
6:13365663:C:CC	acceptor_gain	0.9900
6:13365664:T:A	acceptor_loss	0.9900
6:13486004:T:TA	donor_gain	0.9900
6:13486632:GCTCA:G	donor_loss	0.9900
6:13486633:CTCAC:C	donor_loss	0.9900
6:13486634:TCACC:T	donor_loss	0.9900
6:13486635:CACCT:C	donor_loss	0.9900
6:13486636:A:C	donor_loss	0.9900
6:13360669:TGGC:T	donor_gain	0.9800
6:13360677:T:TA	donor_gain	0.9800
6:13364685:T:TA	donor_gain	0.9800
6:13365669:G:GC	acceptor_gain	0.9800
6:13460455:TATAC:T	donor_gain	0.9800
6:13460456:ATACA:A	donor_gain	0.9800
6:13484392:TTCC:T	donor_gain	0.9800
6:13484393:TCCT:T	donor_gain	0.9800
6:13486636:A:AC	donor_gain	0.9800
6:13486637:C:CC	donor_gain	0.9800
6:13486637:CCTAG:C	donor_gain	0.9800
6:13486703:T:TA	donor_gain	0.9800
6:13364702:C:A	donor_gain	0.9700
6:13365661:GC:G	acceptor_gain	0.9700
6:13365662:CC:C	acceptor_gain	0.9700

AlphaMissense

2564 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:13365326:C:T	G197E	0.999
6:13365327:C:A	G197W	0.999
6:13365432:A:G	W162R	0.999
6:13365432:A:T	W162R	0.999
6:13365647:A:T	V90D	0.999
6:13365212:A:T	V235D	0.998
6:13365387:C:G	G177R	0.998
6:13365652:C:A	K88N	0.998
6:13365652:C:G	K88N	0.998
6:13365656:C:A	G87V	0.998
6:13486797:A:G	W32R	0.998
6:13486797:A:T	W32R	0.998
6:13486814:A:G	F26S	0.998
6:13486874:C:T	G6D	0.998
6:13365206:A:G	L237P	0.997
6:13365255:A:G	C221R	0.997
6:13365261:C:G	D219H	0.997
6:13365265:G:C	S217R	0.997
6:13365265:G:T	S217R	0.997
6:13365267:T:G	S217R	0.997
6:13365327:C:G	G197R	0.997
6:13365327:C:T	G197R	0.997
6:13365332:A:T	V195D	0.997
6:13365386:C:T	G177D	0.997
6:13365549:G:T	R123S	0.997
6:13365654:T:C	K88E	0.997
6:13365656:C:T	G87D	0.997
6:13486640:A:G	L84P	0.997
6:13486652:G:T	A80D	0.997
6:13486803:C:G	A30P	0.997

dbSNP variants (sampled 300 via entrez): RS1000030448 (6:13473718 T>A,C), RS1000067604 (6:13388516 A>G), RS1000069105 (6:13489531 C>T), RS1000077429 (6:13388701 G>A), RS1000091541 (6:13370669 T>C), RS1000099894 (6:13489013 G>A), RS1000113667 (6:13429261 G>A), RS1000132279 (6:13453957 C>T), RS1000152499 (6:13403149 G>A), RS1000155503 (6:13464937 C>T), RS1000159682 (6:13479679 C>A), RS1000160456 (6:13436147 T>C,G), RS1000163161 (6:13418177 C>T), RS1000180862 (6:13371701 C>A), RS1000209785 (6:13464470 C>CTA)

Disease associations

OMIM: gene MIM:619932 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010867_32	Coronary artery disease	6.000000e-06
GCST90011899_37	Aspartate aminotransferase levels	4.000000e-18

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
bisphenol A	decreases expression, increases expression, increases methylation	3
Benzo(a)pyrene	decreases expression, decreases methylation	3
Estradiol	affects cotreatment, increases expression	2
Aflatoxin B1	increases methylation	2
GSK-J4	increases expression	1
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
kojic acid	decreases expression	1
diethyl maleate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
aflatoxin B2	increases methylation	1
15-acetyldeoxynivalenol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Amiodarone	increases expression	1
Antimycin A	increases expression	1
Arsenic	affects methylation	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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