GADD45B

Summary

GADD45B (growth arrest and DNA damage inducible beta, HGNC:4096) is a protein-coding gene on chromosome 19p13.3, encoding Growth arrest and DNA damage-inducible protein GADD45 beta (O75293). 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 genes in this group respond to environmental stresses by mediating activation of the p38/JNK pathway. This activation is mediated via their proteins binding and activating MTK1/MEKK4 kinase, which is an upstream activator of both p38 and JNK MAPKs. The function of these genes or their protein products is involved in the regulation of growth and apoptosis. These genes are regulated by different mechanisms, but they are often coordinately expressed and can function cooperatively in inhibiting cell growth.

Source: NCBI Gene 4616 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 11 total
• MANE Select transcript: NM_015675

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4096
Approved symbol	GADD45B
Name	growth arrest and DNA damage inducible beta
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	GADD45BETA, DKFZP566B133
Ensembl gene	ENSG00000099860
Ensembl biotype	protein_coding
OMIM	604948
Entrez	4616

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000215631, ENST00000585359, ENST00000586759, ENST00000587345, ENST00000587887, ENST00000592937, ENST00000593043, ENST00000718317, ENST00000904740

RefSeq mRNA: 1 — MANE Select: NM_015675 NM_015675

CCDS: CCDS32868

Canonical transcript exons

ENST00000215631 — 4 exons

Exon	Start	End
ENSE00001433290	2477488	2478257
ENSE00003491299	2476127	2476402
ENSE00003605716	2477029	2477251
ENSE00003642125	2476529	2476630

Expression profiles

Bgee: expression breadth ubiquitous, 303 present calls, max score 99.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 130.7859 / max 6639.0852, expressed in 1819 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173095	129.2106	1819
173100	0.6074	259
173101	0.4070	186
173102	0.3074	139
173096	0.1448	57
173099	0.0513	14
173098	0.0342	9
173097	0.0233	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vena cava	UBERON:0004087	99.73	gold quality
mucosa of stomach	UBERON:0001199	99.58	gold quality
vein	UBERON:0001638	99.45	gold quality
saphenous vein	UBERON:0007318	99.36	gold quality
tibial artery	UBERON:0007610	99.21	gold quality
popliteal artery	UBERON:0002250	99.20	gold quality
left uterine tube	UBERON:0001303	99.15	gold quality
artery	UBERON:0001637	99.04	gold quality
aorta	UBERON:0000947	99.00	gold quality
ascending aorta	UBERON:0001496	98.88	gold quality
pericardium	UBERON:0002407	98.87	gold quality
thoracic aorta	UBERON:0001515	98.81	gold quality
pancreatic ductal cell	CL:0002079	98.68	gold quality
right lobe of thyroid gland	UBERON:0001119	98.65	gold quality
right atrium auricular region	UBERON:0006631	98.62	gold quality
right lobe of liver	UBERON:0001114	98.55	gold quality
left lobe of thyroid gland	UBERON:0001120	98.51	gold quality
parotid gland	UBERON:0001831	98.45	gold quality
amniotic fluid	UBERON:0000173	98.43	gold quality
olfactory bulb	UBERON:0002264	98.41	gold quality
omental fat pad	UBERON:0010414	98.41	gold quality
seminal vesicle	UBERON:0000998	98.38	gold quality
peritoneum	UBERON:0002358	98.38	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	98.38	gold quality
coronary artery	UBERON:0001621	98.35	gold quality
cardiac atrium	UBERON:0002081	98.35	gold quality
descending thoracic aorta	UBERON:0002345	98.34	gold quality
left coronary artery	UBERON:0001626	98.32	gold quality
gall bladder	UBERON:0002110	98.24	gold quality
upper lobe of left lung	UBERON:0008952	98.22	gold quality

Single-cell (SCXA)

Detected in 19 experiment(s), a significant marker in 17.

Experiment	Marker?	Max mean expression
E-MTAB-7052	yes	5817.64
E-MTAB-8495	yes	4751.53
E-CURD-95	yes	2344.11
E-MTAB-8884	yes	931.39
E-GEOD-76312	yes	173.85
E-MTAB-6701	yes	63.18
E-MTAB-10287	yes	62.13
E-HCAD-4	yes	50.07
E-CURD-122	yes	34.47
E-MTAB-8410	yes	25.16
E-GEOD-130148	yes	10.02
E-MTAB-10042	yes	9.87
E-CURD-46	yes	9.75
E-GEOD-137537	yes	6.19
E-MTAB-10553	yes	5.19

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ATF3, CREB1, EGR1, EGR3, JUN, MEF2D, NFIL3, NFKB1, NFKB, NR1I2, NR1I3, OVOL1, PPARA, RELA, RUNX2, SMAD1, SMAD2, SMAD3, SMAD4, SNAI1, SOX2, STAT3

miRNA regulators (miRDB)

26 targeting GADD45B, 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-5193	100.00	67.26	1744
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-12130	99.75	65.47	452
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-6071	99.16	67.77	1780
HSA-MIR-4507	99.14	65.27	515
HSA-MIR-3940-5P	99.14	65.26	493
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-6895-3P	98.79	65.69	996
HSA-MIR-3922-5P	98.77	66.53	1059
HSA-MIR-3188	98.58	65.60	878
HSA-MIR-6818-3P	98.56	68.23	1307
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-1470	98.11	63.53	399
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-5588-3P	94.96	65.59	500
HSA-MIR-3655	86.11	61.77	117

Literature-anchored findings (GeneRIF, showing 40)

• participation of NF-kappaB in the regulation of Gadd45beta (PMID:12162804)
• Results suggest that GADD45beta, which is down-regulated in most cases of hepatocellular carcinoma (HCC), remains an ideal candidate for development as a molecular marker in the diagnosis of HCC and as a potential therapeutic target. (PMID:12759252)
• in B cells, Gadd45 beta is induced by CD40 through a mechanism that requires NF-kappa B and that induction suppresses Fas-mediated killing (PMID:12855571)
• SMAD3 and SMAD4 activate gadd45beta through its third intron to facilitate G2 progression following TGFbeta treatment (PMID:14630914)
• methylation might play a crucial role in the epigenetic regulation of GADD45beta in hepatocyte transformation that may be directed by p53 status (PMID:15509538)
• TGF-beta induces biglycan expression through ALK5 and GADD45beta (PMID:15546867)
• NF-kappaB, ERK, and GADD45beta are able to coordinate in a loop-like signaling network to defend cells against the cytotoxicity induced by ionizing radiation (PMID:15642734)
• GADD45beta plays an essential role during chondrocyte terminal differentiation and mediates MMP-13 gene expression (PMID:16144844)
• We found significant differences in gene expression, specifically with a group of genes, including GADD45beta, known to be responsive to estrogen or to interact with estrogen receptor. (PMID:17437852)
• Association of Gadd45beta with MKK7 involves a network of interactions mediated by its putative helices alpha3 and alpha4 and loops 1 and 2 (PMID:17485467)
• our results suggest that GADD45beta induction by SAMe via NF-kappaB may represent a novel mechanism of SAMe-mediated hepatoprotection, with p53 playing an important role. (PMID:17591973)
• The results suggest the occurrence of a large complex containing at least an MKK7-Gadd45 beta:Gadd45 beta-MKK7 tetrameric unit whose complexity could be further increased by the dimeric nature of the isolated MKK7. (PMID:18343408)
• Haplotype (rs2024144-rs3783501) of GADD45B affected the thickness of inter-ventricular septum in patients with hypertrophy cardiomyopathy. (PMID:18515079)
• These observations suggest that GADD45beta might play an important role in regulating chondrocyte homeostasis by modulating collagen gene expression and promoting cell survival in normal adult cartilage and in early OA (PMID:18576389)
• The stress-mediated induction of gadd45b by distinct stressors is differentially regulated at the level of mRNA transcription or mRNA stability, which is largely distinct from gadd45a. (PMID:19834918)
• Deficient Gadd45beta expression in RA can contribute to activation of JNK, exacerbate clinical arthritis, and augment joint destruction. (PMID:19877043)
• Diminished Gadd45beta expression leads to aberrant cell cycle arrest and diminished DNA excision repair and is associated with HCV-associated hepatocellular carcinomas. (PMID:20530689)
• Findings suggest that Gadd45b mediates p38-induced Rb phosphorylation by enhancing the interaction between p38 and Rb during Fas-induced apoptosis in murine hepatocytes. (PMID:20558744)
• The association of GADD45beta expression and pathological grading of chondrosarcoma in the present study suggests that the immunohistochemical study of GADD45beta may be a specific diagnostic parameter for chondrosarcoma cell differentiation. (PMID:20942912)
• Findings suggest that GADD45beta induction contributes to sorafenib-induced apoptosis in HCC cells, prompting further studies to validate its potential value in predicting sorafenib efficacy. (PMID:21062976)
• PXR activates the GADD45beta gene, increasing p38 MAPK phosphorylation, and leading HepG2 cells to change morphology and migrate. (PMID:21127053)
• GADD45beta is a novel pituitary tumor suppressor whose reexpression blocks proliferation, survival, and tumorigenesis (PMID:21810943)
• finding show there is an increased expression and decreased promoter binding of GADD45b in psychotic subjects. (PMID:22048458)
• Cadmium chloride can induce DNA damage and increase expression levels of the gadd153 and gadd45beta promoters in HepG2 cells. (PMID:22096849)
• as such may play an unappreciated role in tumorigenesis. The exact mechanism of GADD45B inactivation and overexpression requires further investigation. GADD45B could be a potential therapeutic target for CRC treatment in future (PMID:23110778)
• The gadd45b gene has both tumor suppressor and tumor promoter functions, dependent on the tissue/cell type and transforming event. (Review) (PMID:24104471)
• Gadd45B protects the liver through two entirely different processes: binding MKK7 to block damaging signal transduction or binding CAR to coactivate anabolic transcription. (Review) (PMID:24104474)
• our data demonstrate that C/EBPbeta plays a central role in controlling Gadd45beta gene expression in articular chondrocytes (PMID:26896926)
• present study provides evidence that variations in GADD45B rs2024144T, MAPK14 rs3804451A and GADD45A rs581000C may predict platinum-based chemotherapy toxicity outcomes in patients with advanced non-small cell lung cancer (PMID:26993769)
• Nrf2-Gadd45b signaling axis exhibited a protective role in antimony trioxide-induced cell apoptosis. (PMID:27208483)
• We propose a signaling cascade involving ARID1A, GADD45B and DUSP1 as mediators of the romidepsin effects in GCC cells. (PMID:27572311)
• We used a new approach to search for human genes repressed by small nucleic acids (microRNAs) expressed by a gammaherpesvirus (KSHV), which identified a gene called GADD45B as a target of microRNAs. Repression of GADD45B, which is expressed in response to DNA damage, benefited survival of infected cells in response to a DNA damage response. This information could be used to design new treatments for herpesvirus infections (PMID:27852859)
• Gadd45beta could be a suitable biomarker of cardiomyocytes apoptosis in newborns experiencing hypoxia in the first day of life, as its highest tissue immunoexpression around at the first six hours after birth. (PMID:28214215)
• These findings demonstrate that 19p13.3-GADD45B rs7354 variant and interaction between 19p13.3-GADD45B rs3783501 and 19q13.3-CD3EAP rs967591 may play a role in association with smoke-exposed lung cancer among Chinese. (PMID:28870783)
• High GADD45B expression is associated with cancer. (PMID:29279355)
• Although GADD45B is elevated in prostate cancer tissues, levels of GADD45B in prostate tumor tissues are reduced at late stage of tumor invasion, and higher levels of GADD45B predict better survivals of prostate cancer patients. (PMID:29356020)
• The assessment of the interaction between GADD45beta and MKK7 and the elucidation of the recognition surfaces between DTP3 and MKK7 significantly advance the understanding of the mechanism underlying the inhibition of the GADD45beta/MKK7 interaction by DTP3 and pave the way to the design of small-molecule DTP3 analogues. (PMID:29572137)
• demonstrate the protective role of GADD45beta in sepsis and the results suggest that GADD45beta could be used as a novel therapeutic target to cure sepsis (PMID:29741778)
• We found that GADD45B is indispensable for DNA damage protection and survival in stem cells. Thus, we describe an easy and efficient protocol of DNA-free gene editing of hard-to-target transcripts and enrichment of gene-modified cells that are generally difficult to transfect. (PMID:30622144)
• Down-regulation of GADD45beta can reduce the colony-forming ability of PC9 cells, promote the cell apoptosis, and enhance the sensitivity of PC9 cells to gefitinib (PMID:30643065)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	gadd45bb	ENSDARG00000013576
danio_rerio	gadd45ba	ENSDARG00000027744
mus_musculus	Gadd45b	ENSMUSG00000015312
rattus_norvegicus	Gadd45b	ENSRNOG00000019822
drosophila_melanogaster	Gadd45	FBGN0033153

Paralogs (2): GADD45A (ENSG00000116717), GADD45G (ENSG00000130222)

Protein

Protein identifiers

Growth arrest and DNA damage-inducible protein GADD45 beta — O75293 (reviewed: O75293)

Alternative names: Myeloid differentiation primary response protein MyD118, Negative growth regulatory protein MyD118

All UniProt accessions (4): O75293, K7EM97, K7EPQ8, Q6IX74

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. Interacts with GADD45GIP1.

Similarity. Belongs to the GADD45 family.

RefSeq proteins (1): NP_056490* (*=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 (3 total): sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75293-F1	89.52	0.74

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 527 (showing top): CREL_01, ENK_UV_RESPONSE_KERATINOCYTE_UP, KEGG_MAPK_SIGNALING_PATHWAY, SHEPARD_CRASH_AND_BURN_MUTANT_UP, DAZARD_UV_RESPONSE_CLUSTER_G4, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, MATTIOLI_MGUS_VS_PCL, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, SATO_SILENCED_BY_DEACETYLATION_IN_PANCREATIC_CANCER, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, NAGASHIMA_NRG1_SIGNALING_UP, GGGTGGRR_PAX4_03, HUMMERICH_SKIN_CANCER_PROGRESSION_UP, GOLDRATH_ANTIGEN_RESPONSE, NFKB_C

GO Biological Process (7): 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 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
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

1574 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GADD45B	MAP3K4	Q9Y6R4	989
GADD45B	MAP2K7	O14733	946
GADD45B	GADD45GIP1	Q8TAE8	735
GADD45B	CDKN1A	P38936	703
GADD45B	ATF3	P18847	697
GADD45B	TP53	P04637	660
GADD45B	TDG	Q13569	616
GADD45B	CCNB1	P14635	615
GADD45B	DDIT3	P35638	599
GADD45B	MAPK8	P45983	598
GADD45B	IL6	P05231	594
GADD45B	TET2	Q6N021	560
GADD45B	REL	Q04864	558
GADD45B	STAT3	P40763	553
GADD45B	CDK1	P06493	548

IntAct

24 interactions, top by confidence:

A	B	Type	Score
MAP3K4	GADD45B	psi-mi:“MI:0915”(physical association)	0.680
MAP2K7		psi-mi:“MI:0915”(physical association)	0.670
	MAP2K7	psi-mi:“MI:0407”(direct interaction)	0.670
MAP2K7	GADD45B	psi-mi:“MI:0407”(direct interaction)	0.650
GADD45B	MAP2K7	psi-mi:“MI:0407”(direct interaction)	0.650
GADD45B	MAP2K7	psi-mi:“MI:0915”(physical association)	0.650
CNOT9	GADD45B	psi-mi:“MI:0915”(physical association)	0.560
GADD45B	EFHC1	psi-mi:“MI:0915”(physical association)	0.560
GADD45B	CNOT9	psi-mi:“MI:0915”(physical association)	0.560
GADD45B	CDK1	psi-mi:“MI:0915”(physical association)	0.400
MAP2K7		psi-mi:“MI:0915”(physical association)	0.400
CFTR	GADD45B	psi-mi:“MI:0915”(physical association)	0.370
GADD45B	MAP2K6	psi-mi:“MI:0915”(physical association)	0.370
GADD45B	CNOT1	psi-mi:“MI:0914”(association)	0.350
EFHC1	GADD45B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (50): MAP3K4 (Affinity Capture-MS), CNOT2 (Affinity Capture-MS), CNOT6 (Affinity Capture-MS), IL36A (Affinity Capture-MS), CNOT6L (Affinity Capture-MS), CNOT8 (Affinity Capture-MS), CNOT11 (Affinity Capture-MS), CNOT1 (Affinity Capture-MS), CNOT10 (Affinity Capture-MS), RQCD1 (Affinity Capture-MS), TNKS1BP1 (Affinity Capture-MS), CNOT3 (Affinity Capture-MS), CNOT7 (Affinity Capture-MS), RAVER1 (Affinity Capture-MS), HBA2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L1SUL6, F1LQY6, O35465, O43379, O75293, O88910, O88954, P0C0T1, P21964, P22339, P41214, P50747, Q13368, Q13572, Q14318, Q16342, Q1HAQ0, Q28955, Q2T9Z1, Q3B7U9, Q3TFD2, Q3TMX7, Q496Y0, Q4AC99, Q5BIM1, Q5E9A5, Q5R812, Q5RA63, Q5SZD4, Q64311, Q6DC64, Q6P5G6, Q6PFY8, Q80YV4, Q8BNV1, Q8BYN3, Q8NFZ0, Q8R1C6, Q8R1T1, Q8TCU6

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

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
NfKb-p65/p50	“up-regulates quantity by expression”	GADD45B	“transcriptional regulation”
“Integrator complex”	“down-regulates quantity by repression”	GADD45B	“transcriptional regulation”
GADD45B	“down-regulates activity”	CDK11A	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	9
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

335 predictions. Top by Δscore:

Variant	Effect	Δscore
19:2476398:CAGAA:C	donor_gain	1.0000
19:2476399:AGAA:A	donor_gain	1.0000
19:2476400:GAA:G	donor_gain	1.0000
19:2476400:GAAG:G	donor_gain	1.0000
19:2476401:AA:A	donor_gain	1.0000
19:2476402:AGTA:A	donor_loss	1.0000
19:2476403:G:GG	donor_gain	1.0000
19:2476404:TAA:T	donor_loss	1.0000
19:2476520:T:TA	acceptor_gain	1.0000
19:2476527:A:AG	acceptor_gain	1.0000
19:2476527:AG:A	acceptor_gain	1.0000
19:2476528:G:GA	acceptor_gain	1.0000
19:2476528:GG:G	acceptor_gain	1.0000
19:2476626:AATGT:A	donor_gain	1.0000
19:2476627:ATGT:A	donor_gain	1.0000
19:2476629:GT:G	donor_gain	1.0000
19:2476631:G:GG	donor_gain	1.0000
19:2477017:T:TA	acceptor_gain	1.0000
19:2477024:CTCA:C	acceptor_loss	1.0000
19:2477025:TCA:T	acceptor_loss	1.0000
19:2477026:CA:C	acceptor_loss	1.0000
19:2477027:A:AG	acceptor_gain	1.0000
19:2477027:AG:A	acceptor_gain	1.0000
19:2477027:AGG:A	acceptor_gain	1.0000
19:2477028:G:A	acceptor_gain	1.0000
19:2477028:G:GC	acceptor_gain	1.0000
19:2477028:GGG:G	acceptor_gain	1.0000
19:2477028:GGGA:G	acceptor_gain	1.0000
19:2477028:GGGAC:G	acceptor_gain	1.0000
19:2477250:CG:C	donor_gain	1.0000

AlphaMissense

1051 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:2477100:T:C	I73T	1.000
19:2477112:T:C	L77P	1.000
19:2476599:G:A	G39R	0.999
19:2476599:G:C	G39R	0.999
19:2476599:G:T	G39W	0.999
19:2476600:G:A	G39E	0.999
19:2476615:C:A	A44D	0.999
19:2477051:T:C	C57R	0.999
19:2477053:C:G	C57W	0.999
19:2477058:T:C	L59S	0.999
19:2477100:T:A	I73N	0.999
19:2477100:T:G	I73S	0.999
19:2477102:C:G	H74D	0.999
19:2477112:T:A	L77H	0.999
19:2477123:T:C	F81L	0.999
19:2477125:C:A	F81L	0.999
19:2477125:C:G	F81L	0.999
19:2476612:C:G	S43W	0.998
19:2477052:G:A	C57Y	0.998
19:2477105:T:C	F75L	0.998
19:2477107:C:A	F75L	0.998
19:2477107:C:G	F75L	0.998
19:2477124:T:C	F81S	0.998
19:2477126:T:C	C82R	0.998
19:2477127:G:A	C82Y	0.998
19:2477128:C:G	C82W	0.998
19:2477237:T:C	C119R	0.998
19:2477239:T:G	C119W	0.998
19:2477244:T:C	L121P	0.998
19:2476600:G:T	G39V	0.997

dbSNP variants (sampled 300 via entrez): RS1000209599 (19:2476951 CT>C,CTT), RS1001844202 (19:2475327 C>G,T), RS1002083496 (19:2474870 G>T), RS1002445430 (19:2476211 C>T), RS1004034755 (19:2477677 C>A,T), RS1004476837 (19:2476254 G>A), RS1005070723 (19:2476162 C>A,T), RS1005367682 (19:2477821 C>G), RS1005745215 (19:2475391 A>G), RS1006995779 (19:2474609 A>G), RS1007074608 (19:2474296 A>G), RS1007295518 (19:2474644 G>A), RS1007822421 (19:2474257 G>A), RS1007880477 (19:2477928 T>A), RS1008139855 (19:2476828 C>T)

Disease associations

OMIM: gene MIM:604948 | 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	7
Tobacco Smoke Pollution	decreases expression, increases expression	6
Cadmium Chloride	decreases expression, increases abundance, increases expression	5
Particulate Matter	increases abundance, affects cotreatment, increases expression, affects expression, increases reaction (+1 more)	5
trichostatin A	affects cotreatment, increases expression, affects expression	4
sodium arsenite	increases expression	4
Benzo(a)pyrene	increases expression, increases methylation	4
Cadmium	affects expression, increases abundance, increases expression	4
Formaldehyde	increases expression	4
Bortezomib	increases expression	3
Cisplatin	affects expression, decreases expression, increases reaction, increases expression	3
Copper	increases expression, decreases expression, affects binding	3
Nickel	increases expression	3
Tetrachlorodibenzodioxin	increases expression	3
Cyclosporine	decreases expression, increases expression	3
Aflatoxin B1	increases expression	3
bisphenol A	decreases expression	2
cylindrospermopsin	increases expression	2
entinostat	increases expression, affects cotreatment	2
(+)-JQ1 compound	increases expression	2
Zoledronic Acid	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Estradiol	affects cotreatment, increases expression, decreases expression	2
Lipopolysaccharides	increases expression, affects response to substance	2
Phenylmercuric Acetate	increases expression, affects cotreatment	2
Quercetin	increases expression	2
Silver	increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	2
Asbestos, Crocidolite	increases expression	2
tert-Butylhydroperoxide	affects expression, decreases expression	2

Cellosaurus cell lines

8 cell lines: 7 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1SK	Abcam HeLa GADD45B KO	Cancer cell line	Female
CVCL_B8GN	Abcam HCT 116 GADD45B KO	Cancer cell line	Male
CVCL_B9IW	Abcam A-549 GADD45B KO	Cancer cell line	Male
CVCL_D2FC	Abcam MCF-7 GADD45B KO	Cancer cell line	Female
CVCL_D7QH	Ubigene A-549 GADD45B KO	Cancer cell line	Male
CVCL_D8LT	Ubigene HCT 116 GADD45B KO	Cancer cell line	Male
CVCL_D9FC	Ubigene HEK293 GADD45B KO	Transformed cell line	Female
CVCL_E0DN	Ubigene HeLa GADD45B KO	Cancer cell line	Female

Clinical trials (associated diseases)

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