GADD45G

Summary

GADD45G (growth arrest and DNA damage inducible gamma, HGNC:4097) is a protein-coding gene on chromosome 9q22.2, encoding Growth arrest and DNA damage-inducible protein GADD45 gamma (O95257). Involved in the regulation of growth and apoptosis.

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The GADD45G is highly expressed in placenta.

Source: NCBI Gene 10912 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 19 total
• MANE Select transcript: NM_006705

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4097
Approved symbol	GADD45G
Name	growth arrest and DNA damage inducible gamma
Location	9q22.2
Locus type	gene with protein product
Status	Approved
Aliases	DDIT2, GADD45gamma, GRP17, CR6
Ensembl gene	ENSG00000130222
Ensembl biotype	protein_coding
OMIM	604949
Entrez	10912

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000252506, ENST00000375769, ENST00000494726, ENST00000906979

RefSeq mRNA: 1 — MANE Select: NM_006705 NM_006705

CCDS: CCDS6686

Canonical transcript exons

ENST00000252506 — 4 exons

Exon	Start	End
ENSE00000894766	89605432	89605533
ENSE00001025891	89605969	89606555
ENSE00001122964	89605012	89605174
ENSE00001168289	89605667	89605880

Expression profiles

Bgee: expression breadth ubiquitous, 194 present calls, max score 98.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.1999 / max 856.5251, expressed in 1138 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
97298	15.1999	1138

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	98.15	gold quality
right atrium auricular region	UBERON:0006631	97.86	gold quality
right lobe of liver	UBERON:0001114	97.63	gold quality
right adrenal gland cortex	UBERON:0035827	97.09	gold quality
left adrenal gland cortex	UBERON:0035825	96.98	gold quality
left adrenal gland	UBERON:0001234	96.96	gold quality
right adrenal gland	UBERON:0001233	96.89	gold quality
popliteal artery	UBERON:0002250	96.48	gold quality
tibial artery	UBERON:0007610	96.46	gold quality
endocervix	UBERON:0000458	95.89	gold quality
adrenal cortex	UBERON:0001235	95.64	gold quality
cardiac atrium	UBERON:0002081	94.89	gold quality
gastrocnemius	UBERON:0001388	94.53	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.35	gold quality
adenohypophysis	UBERON:0002196	94.19	gold quality
ganglionic eminence	UBERON:0004023	94.16	gold quality
ventricular zone	UBERON:0003053	93.66	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.51	gold quality
lower esophagus	UBERON:0013473	93.40	gold quality
pituitary gland	UBERON:0000007	93.38	gold quality
muscle of leg	UBERON:0001383	93.38	gold quality
left ovary	UBERON:0002119	93.37	gold quality
right ovary	UBERON:0002118	93.27	gold quality
adrenal gland	UBERON:0002369	93.24	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.19	gold quality
aorta	UBERON:0000947	92.49	gold quality
apex of heart	UBERON:0002098	92.48	gold quality
body of pancreas	UBERON:0001150	92.25	gold quality
mucosa of transverse colon	UBERON:0004991	91.61	gold quality
heart left ventricle	UBERON:0002084	91.47	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-HCAD-56	yes	1939.51
E-MTAB-8894	yes	1853.55
E-MTAB-11121	yes	665.62
E-HCAD-5	yes	630.90
E-MTAB-10485	yes	566.09
E-MTAB-10287	yes	47.79
E-GEOD-134144	yes	38.68
E-CURD-114	yes	9.68
E-GEOD-93593	yes	7.08
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ATF3, CEBPB, CEBPD, CREB1, ESR1, KLF5, MTF1, NFKB1, NFKB, NR2E1, RELA, SIRT1, SKIL, SMAD1, SMAD5, STAT3, TP53, ZFPM2

miRNA regulators (miRDB)

12 targeting GADD45G, 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-3667-3P	99.99	67.17	1636
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-8077	99.17	66.67	862
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-1245B-5P	98.88	66.55	576
HSA-MIR-3142	98.88	66.09	529
HSA-MIR-4763-5P	98.75	63.89	854
HSA-MIR-6869-3P	83.17	65.88	30

Literature-anchored findings (GeneRIF, showing 40)

• a powerful growth suppressor controlling pituitary cell proliferation and the first identified gene whose expression is lost in the majority of human pituitary tumors. (PMID:11889197)
• results suggest that CRIF1 is a novel nuclear protein that interacts with Gadd45 and may play a role in negative regulation of cell cycle progression and cell growth (PMID:12716909)
• Data show that GADD45 gamma mRNA expression is down-regulated in hepatocellular carcinoma, and that GADD45 gamma causes cell cycle arrest at G2/M transition when transfected into Hep-G2 cells. (PMID:14672412)
• GADD45g induction by androgens requires new protein synthesis; overexpression of GADD45g inhibited cell growth and caused morphological changes in prostate cell lines, arguing that GADD45g is involved in differentiation induced by androgens (PMID:15062559)
• Inhibition of GADD45alpha and gamma in cancer cells by small interfering RNA abrogates apoptosis induction by the inhibitor of NF-kappaB (PMID:15353598)
• Results show that GADD45G can act as a functional new-age tumor suppressor but being frequently inactivated epigenetically in multiple tumors. (PMID:16166418)
• Establish MDA-7/IL-24 and GADD45alpha and GADD45gamma as critical mediators of apoptosis and growth arrest in response to NSAIDs in cancer cells. (PMID:17178890)
• Human Gadd45gamma and its selenomethionine derivative were expressed in an Escherichia coli expression system and purified; they were then crystallized using the hanging-drop vapour-diffusion method. (PMID:18997345)
• Flow cytometric analysis revealed significant G2/M arrest in cells transfected with either Gadd45alpha or Gadd45gamma. Importantly, we found that expression of either Gadd45alpha or Gadd45gamma activated P38 and JNK kinase pathways to induce G2/M arrest. (PMID:19048389)
• urinary GADD45gamma expression is associated with progression of renal disease (PMID:19293565)
• Epigenetic regulation of GADD45G is associated with carcinogenesis in stomach, colorectal and pancreateic cancers. (PMID:20111973)
• The induction of GADD45gamma gene expression by 1,25-(OH)2D3 may mark therapeutic response in prostate cancer. (PMID:20739400)
• clinically non-functioning adenomas had a significant decrease (P<0.001) in the relative levels of GADD45c expression (13 of 14 adenomas or 92%), compared to functioning adenomas (11 of 24 or 46%) (PMID:21850407)
• Data show that mda-7/IL-24 activation leads to upregulation of growth arrest and DNA damage inducible (GADD) 45 alpha and gamma and JNK activation. (PMID:21931671)
• These results reveal the mechanism of self-association by Gadd45 proteins and the importance of this self-association for their biological function (PMID:22058036)
• Knock-down of GADD45gamma significantly attenuates TNF-a and IL-6 production in the human monocyte-macrophage THP-1 cell line as well as in human peripheral blood mononuclear cells (PMID:22752116)
• In addition, eight genes classified as ‘second tier’ hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample. (PMID:23512105)
• Methylation-mediated repression of GADD45G expression is associated with gastric cardia adenocarcinoma. (PMID:23616123)
• Decreased expression and aberrant methylation of Gadd45G is associated with tumor progression in esophageal squamous cell carcinoma. (PMID:23793925)
• GADD45G functions as a negative regulator of the Jak-Stat3 pathway and inhibits hepatocellular carcinoma by inducing cellular senescence. (PMID:23897841)
• The gadd45g gene has both tumor suppressor and tumor promoter functions, dependent on the tissue/cell type and transforming event. (Review) (PMID:24104471)
• Suggest that cucurbitacin E induced mitosis delay is regulated by GADD45gamma overexpression in malignant gliomas. (PMID:24577085)
• Expression of GADD45gamma was significantly higher in pituitary adenomas of female patients. (PMID:25126861)
• demonstrate for the first time that miR-383 can specifically regulates the expression of Gadd45g by directly targeting to the 3-UTR region of Gadd45g mRNA, a regulatory process conserved in human tumor cells and mouse embryonic stem cells (PMID:25415264)
• In contrast to solid tumors, in DLBCL, the frequency of GADD45gamma methylation is higher and may be associated with progression. Nodal involvement is more likely to be present in patients with unmethylated GADD45gamma. (PMID:25912017)
• we demonstrated that GADD45gamma expression in hepatocellular carcinoma cells was associated with sorafenib sensitivity (PMID:26172295)
• Results establish that the dowregulation of GADD45G-SIP1 axis may contribute to cellular senescence evasion and HCC development. (PMID:26378039)
• GADD45G protein, human (PMID:26521045)
• PAX5 was found to be an epigenetically inactivated tumor suppressor that inhibited non-small-cell lung proliferation and metastasis, through down-regulating the beta-catenin pathway and up-regulating GADD45G expression. (PMID:26843424)
• In addition to changes in MEK3 gene regulation, our study demonstrated upregulation of CACNG2 and GADD45G at the mRNA level in CMM patients. (PMID:27418173)
• In an Eastern Chinese population, carriers of GADD45G rs8252T variant genotypes had a significantly lower risk of NSCLC. rs8252 variant CT/TT carriers showed significantly higher levels of GADD45G mRNA expression than CC carriers in the target tissues. There was some evidence of interactions between rs8252 genotypes and sex in NSCLC risk. (PMID:27861856)
• HSV-1 causes upregulation of the GADD45gamma gene to prevent the upregulation of innate immunity genes. (PMID:30700604)
• this is the first study to show that GADD45gamma is required for the caspase-dependent apoptosis of renal tubular cells induced by nephrotoxic drugs. (PMID:30794682)
• GADD45G Interacts with E-cadherin to Suppress the Migration and Invasion of Esophageal Squamous Cell Carcinoma. (PMID:31562612)
• Novel myocardial markers GADD45G and NDUFS5 identified by RNA-sequencing predicts left ventricular reverse remodeling in advanced non-ischemic heart failure: a retrospective cohort study. (PMID:32138671)
• Effect of GADD45G on the radioresistance of nasopharyngeal carcinoma cells. (PMID:34282742)
• MAGEH1 interacts with GADD45G and induces renal tubular cell apoptosis. (PMID:34788311)
• Circular RNA circCHFR downregulation protects against oxidized low-density lipoprotein-induced endothelial injury via regulation of microRNA-15b-5p/growth arrest and DNA damage inducible gamma. (PMID:35137664)
• Identify GADD45G as a potential target of 4-methoxydalbergione in treatment of liver cancer: bioinformatics analysis and in vivo experiment. (PMID:37833694)
• Gadd45g insufficiency drives the pathogenesis of myeloproliferative neoplasms. (PMID:38582902)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	gadd45gb.1	ENSDARG00000016725
danio_rerio	gadd45ga	ENSDARG00000019417
danio_rerio	GADD45G	ENSDARG00000113103
mus_musculus	Gadd45g	ENSMUSG00000021453
rattus_norvegicus	Gadd45g	ENSRNOG00000013090
drosophila_melanogaster	Gadd45	FBGN0033153

Paralogs (2): GADD45B (ENSG00000099860), GADD45A (ENSG00000116717)

Protein

Protein identifiers

Growth arrest and DNA damage-inducible protein GADD45 gamma — O95257 (reviewed: O95257)

Alternative names: Cytokine-responsive protein CR6, DNA damage-inducible transcript 2 protein

All UniProt accessions (2): O95257, Q5VZ88

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK.

Subunit / interactions. Undergoes concentration-dependent homodimerization, which is required for growth inhibititory activity and enhances interaction with PCNA. Interacts with GADD45GIP1. Interacts with PCNA.

Domain organisation. Two central helices mediate homodimerization through parallel packing.

Similarity. Belongs to the GADD45 family.

RefSeq proteins (1): NP_006696* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004038	Ribosomal_eL8/eL30/eS12/Gad45	Domain
IPR024824	GADD45	Family
IPR029064	Ribosomal_eL30-like_sf	Homologous_superfamily

Pfam: PF01248

UniProt features (24 total): helix 7, strand 6, mutagenesis site 6, sequence conflict 2, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
3FFM	X-RAY DIFFRACTION	2.3
2WAL	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95257-F1	88.31	0.75

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 (6):

Position	Phenotype
47	30-fold reduction in homodimerization affinity and 90% decrease in growth inhibition activity and ability to stop cell c
76	30-fold reduction in homodimerization affinity and 90% decrease in growth inhibition activity and ability to stop cell c
80	30-fold reduction in homodimerization affinity and 90% decrease in growth inhibition activity and ability to stop cell c
83	30-fold reduction in homodimerization affinity and 90% decrease in growth inhibition activity and ability to stop cell c
87	reduced growth inhibition activity; when associated with k-89.
89	reduced growth inhibition activity; when associated with k-87.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 367 (showing top): AP1_01, WALLACE_PROSTATE_CANCER_RACE_UP, PAX4_01, MODULE_151, KEGG_MAPK_SIGNALING_PATHWAY, SP3_Q3, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, SARRIO_EPITHELIAL_MESENCHYMAL_TRANSITION_DN, KAUFFMANN_DNA_REPAIR_GENES, CAGCTG_AP4_Q5, SRF_Q5_01, MODULE_66, MODULE_173

GO Biological Process (8): apoptotic process (GO:0006915), cell differentiation (GO:0030154), positive regulation of apoptotic process (GO:0043065), positive regulation of JNK cascade (GO:0046330), regulation of cell cycle (GO:0051726), positive regulation of cold-induced thermogenesis (GO:0120162), positive regulation of p38MAPK cascade (GO:1900745), positive regulation of MAPK cascade (GO:0043410)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of MAPK cascade	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
cellular developmental process	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
JNK cascade	1
regulation of JNK cascade	1
cell cycle	1
regulation of cellular process	1
positive regulation of multicellular organismal process	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
p38MAPK cascade	1
regulation of p38MAPK cascade	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1262 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GADD45G	GADD45GIP1	Q8TAE8	960
GADD45G	MAP3K4	Q9Y6R4	938
GADD45G	CCNB1	P14635	829
GADD45G	SESN1	Q9Y6P5	746
GADD45G	CDK1	P06493	664
GADD45G	CD300LF	Q8TDQ1	625
GADD45G	DDIT3	P35638	611
GADD45G	CASP3	P42574	561
GADD45G	MAPK8	P45983	537
GADD45G	CDKN2A	P42771	525
GADD45G	MAPK14	Q16539	522
GADD45G	IL6	P05231	522
GADD45G	STAT3	P40763	521
GADD45G	HUWE1	Q7Z6Z7	507
GADD45G	ESR1	P03372	474

IntAct

144 interactions, top by confidence:

A	B	Type	Score
RWDD2B	GADD45G	psi-mi:“MI:0915”(physical association)	0.830
GADD45G	RWDD2B	psi-mi:“MI:0915”(physical association)	0.830
GADD45G	AFAP1L1	psi-mi:“MI:0915”(physical association)	0.780
AFAP1L1	GADD45G	psi-mi:“MI:0915”(physical association)	0.780
REL	GADD45G	psi-mi:“MI:0915”(physical association)	0.670
GADD45G	LRIF1	psi-mi:“MI:0915”(physical association)	0.670
GADD45G	TSNAX	psi-mi:“MI:0915”(physical association)	0.670
GADD45G	ARPC5L	psi-mi:“MI:0915”(physical association)	0.670
TSNAX	GADD45G	psi-mi:“MI:0915”(physical association)	0.670
GADD45G	UTP14A	psi-mi:“MI:0915”(physical association)	0.630
UTP14A	GADD45G	psi-mi:“MI:0915”(physical association)	0.630
GADD45G	MAP3K4	psi-mi:“MI:0915”(physical association)	0.630

BioGRID (105): GADD45G (Two-hybrid), GADD45G (Two-hybrid), AFAP1L1 (Two-hybrid), CEP57L1 (Two-hybrid), GADD45G (Two-hybrid), GADD45G (Two-hybrid), PCNA (Reconstituted Complex), CDKN1A (Two-hybrid), CDKN1A (Reconstituted Complex), CDKN1A (Affinity Capture-Western), GADD45G (Affinity Capture-Western), GADD45G (Two-hybrid), GADD45GIP1 (Reconstituted Complex), ESR1 (Reconstituted Complex), GADD45G (Affinity Capture-Western)

ESM2 similar proteins: A0A1L1SUL6, A3KFX0, F1LQY6, O43272, O75208, O75293, O95257, P22339, P24522, P24523, P48316, P48317, P50747, Q1HAQ0, Q1LVW0, Q28955, Q2KIX1, Q2KJ58, Q2NL34, Q3TFD2, Q3UMR5, Q3ZBN6, Q5E9A5, Q5R812, Q60GI5, Q64311, Q68FT1, Q6DDJ3, Q6DFV5, Q6DJB3, Q6NYU2, Q7T0P6, Q7Z6G3, Q80YV4, Q8K1Z0, Q8NE86, Q8R1C6, Q8R1T1, Q8TBN0, Q8VDG3

Diamond homologs: O75293, O95257, P22339, P24522, P24523, P48316, P48317, Q2KIX1, Q3ZBN6, Q5E9A5, Q60GI5, Q9WTQ7, Q9Z111, Q9SMI3

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
GADD45G	“down-regulates activity”	CDK11A	binding
SMAD1	“up-regulates quantity”	GADD45G	“transcriptional regulation”
SMAD5	“up-regulates quantity”	GADD45G	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

309 predictions. Top by Δscore:

Variant	Effect	Δscore
9:89605162:A:T	donor_gain	1.0000
9:89605170:GCCAG:G	donor_gain	1.0000
9:89605172:CAG:C	donor_loss	1.0000
9:89605174:GGTG:G	donor_loss	1.0000
9:89605175:GTGG:G	donor_loss	1.0000
9:89605176:T:G	donor_loss	1.0000
9:89605430:A:AG	acceptor_gain	1.0000
9:89605431:G:GG	acceptor_gain	1.0000
9:89605529:AACGT:A	donor_gain	1.0000
9:89605530:ACGT:A	donor_gain	1.0000
9:89605531:CGTG:C	donor_loss	1.0000
9:89605532:GT:G	donor_gain	1.0000
9:89605534:G:GG	donor_gain	1.0000
9:89605656:T:A	acceptor_gain	1.0000
9:89605662:C:CA	acceptor_gain	1.0000
9:89605662:CGCA:C	acceptor_loss	1.0000
9:89605663:GCAG:G	acceptor_loss	1.0000
9:89605665:A:AG	acceptor_gain	1.0000
9:89605665:AG:A	acceptor_gain	1.0000
9:89605665:AGG:A	acceptor_gain	1.0000
9:89605666:G:A	acceptor_gain	1.0000
9:89605666:G:GA	acceptor_gain	1.0000
9:89605666:GGG:G	acceptor_gain	1.0000
9:89605666:GGGA:G	acceptor_gain	1.0000
9:89605666:GGGAC:G	acceptor_gain	1.0000
9:89605876:TTTCG:T	donor_gain	1.0000
9:89605877:TTCG:T	donor_gain	1.0000
9:89605878:TCG:T	donor_gain	1.0000
9:89605879:CG:C	donor_gain	1.0000
9:89605880:GG:G	donor_gain	1.0000

AlphaMissense

1041 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:89605738:T:C	I76T	0.999
9:89605750:T:C	L80P	0.999
9:89605761:T:C	F84L	0.999
9:89605763:C:A	F84L	0.999
9:89605763:C:G	F84L	0.999
9:89605518:C:A	A47D	0.998
9:89605690:G:A	C60Y	0.998
9:89605740:C:G	H77D	0.998
9:89605750:T:A	L80Q	0.998
9:89605758:G:C	A83P	0.998
9:89605873:T:C	L121P	0.998
9:89605527:T:C	L50S	0.997
9:89605691:T:G	C60W	0.997
9:89605738:T:A	I76N	0.997
9:89605738:T:G	I76S	0.997
9:89605762:T:C	F84S	0.997
9:89605765:G:A	C85Y	0.997
9:89605766:C:G	C85W	0.997
9:89605868:C:G	C119W	0.997
9:89605873:T:A	L121H	0.997
9:89605502:G:C	G42R	0.996
9:89605689:T:C	C60R	0.996
9:89605743:T:C	F78L	0.996
9:89605745:T:A	F78L	0.996
9:89605745:T:G	F78L	0.996
9:89605753:T:A	I81N	0.996
9:89605753:T:G	I81S	0.996
9:89605764:T:C	C85R	0.996
9:89605789:T:A	V93E	0.996
9:89605866:T:C	C119R	0.996

dbSNP variants (sampled 300 via entrez): RS1000132182 (9:89604687 T>C), RS1000446793 (9:89604460 C>T), RS1000511747 (9:89603311 C>A,T), RS1001434470 (9:89604862 C>T), RS1001806594 (9:89605002 T>C), RS1002233941 (9:89606201 G>A,C,T), RS1004298279 (9:89606440 C>A,G,T), RS1004575122 (9:89605408 C>G,T), RS1004652074 (9:89606775 T>G), RS1005030945 (9:89605249 G>A,T), RS1006656183 (9:89604252 C>T), RS1007044062 (9:89603067 G>C), RS1009032182 (9:89603124 G>A,C), RS1009229240 (9:89605474 G>A,C), RS1009838754 (9:89604248 T>C)

Disease associations

OMIM: gene MIM:604949 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST000189_1	Protein quantitative trait loci	3.000000e-06
GCST003194_25	Fibrinogen levels	3.000000e-09
GCST004121_36	Fibrinogen levels	4.000000e-09
GCST004122_10	Fibrinogen levels	5.000000e-09
GCST004166_41	Nonsyndromic cleft lip with cleft palate	6.000000e-09
GCST004250_39	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	4.000000e-06
GCST005830_49	Hand grip strength	4.000000e-08
GCST006269_723	General cognitive ability	2.000000e-09
GCST007329_21	Automobile speeding propensity	2.000000e-08
GCST008170_6	Thyroglobulin plasma levels	3.000000e-06
GCST009602_71	Metabolic syndrome	8.000000e-09
GCST010173_114	Triglyceride levels	4.000000e-12
GCST010241_314	Apolipoprotein A1 levels	2.000000e-08
GCST010242_375	HDL cholesterol levels	3.000000e-10
GCST010244_317	Triglyceride levels	5.000000e-15
GCST010703_339	Brain morphology (MOSTest)	3.000000e-10
GCST90002383_515	Hematocrit	3.000000e-11
GCST90002384_261	Hemoglobin	5.000000e-10

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0003959	cleft lip
EFO:0007965	response to combination chemotherapy
EFO:0006941	grip strength measurement
EFO:0004337	intelligence
EFO:0008579	risk-taking behaviour
EFO:0010050	thyroglobulin measurement
EFO:0000195	metabolic syndrome
EFO:0004530	triglyceride measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases abundance, increases expression	6
Cadmium	increases abundance, increases expression, affects expression	4
xanthatin	increases abundance, decreases expression, decreases reaction, increases expression	3
Doxorubicin	increases expression, increases reaction	3
methylmercuric chloride	affects reaction, decreases expression, increases expression	2
sodium arsenite	increases expression	2
Calcitriol	increases expression, increases reaction, affects cotreatment	2
Estradiol	increases expression, affects expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tunicamycin	increases expression	2
Valproic Acid	decreases expression, increases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
pradimicin-IRD	increases expression, affects expression, affects response to substance	1
myristicin	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
4-biphenylamine	increases expression	1
bisphenol A	increases methylation	1
salinomycin	affects cotreatment, increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
IMOL S-140	increases expression	1
terbufos	increases methylation	1
diethyl maleate	increases expression	1
butyraldehyde	increases expression	1
ochratoxin A	decreases expression	1
ferrous chloride	increases expression	1
cupric oxide	increases expression	1
pentanal	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D9FD	Ubigene HEK293 GADD45G KO	Transformed cell line	Female

Clinical trials (associated diseases)

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