IFNG

Summary

IFNG (interferon gamma, HGNC:5438) is a protein-coding gene on chromosome 12q15, encoding Interferon gamma (P01579). Type II interferon produced by immune cells such as T-cells and NK cells that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation.

This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases.

Source: NCBI Gene 3458 — RefSeq curated summary.

At a glance

• Gene–disease (curated): immunodeficiency 69 (Moderate, GenCC)
• GWAS associations: 12
• Clinical variants (ClinVar): 46 total — 2 pathogenic
• Phenotypes (HPO): 110
• Druggable target: yes
• Transcription factor: yes — 19 downstream targets (CollecTRI)
• MANE Select transcript: NM_000619

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5438
Approved symbol	IFNG
Name	interferon gamma
Location	12q15
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000111537
Ensembl biotype	protein_coding
OMIM	147570
Entrez	3458

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000229135

RefSeq mRNA: 1 — MANE Select: NM_000619 NM_000619

CCDS: CCDS8980

Canonical transcript exons

ENST00000229135 — 4 exons

Exon	Start	End
ENSE00000751701	68158191	68158259
ENSE00000751702	68157913	68158095
ENSE00000871856	68154768	68155487
ENSE00001305632	68159502	68159740

Expression profiles

Bgee: expression breadth ubiquitous, 119 present calls, max score 96.52.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.2024 / max 185.7587, expressed in 94 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131959	1.2024	94

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	96.52	gold quality
granulocyte	CL:0000094	89.37	gold quality
lymph node	UBERON:0000029	69.58	gold quality
bone marrow cell	CL:0002092	66.77	gold quality
bone marrow	UBERON:0002371	63.70	gold quality
vermiform appendix	UBERON:0001154	62.93	gold quality
pancreatic ductal cell	CL:0002079	61.30	silver quality
caecum	UBERON:0001153	59.45	gold quality
tibialis anterior	UBERON:0001385	58.49	silver quality
colonic epithelium	UBERON:0000397	56.84	silver quality
decidua	UBERON:0002450	56.55	gold quality
gall bladder	UBERON:0002110	56.47	gold quality
blood	UBERON:0000178	56.39	gold quality
spleen	UBERON:0002106	54.70	gold quality
deltoid	UBERON:0001476	54.56	silver quality
endometrium epithelium	UBERON:0004811	54.21	gold quality
ileal mucosa	UBERON:0000331	53.85	silver quality
right lobe of liver	UBERON:0001114	53.54	gold quality
hair follicle	UBERON:0002073	52.43	gold quality
seminal vesicle	UBERON:0000998	51.81	silver quality
epithelial cell of pancreas	CL:0000083	51.42	gold quality
smooth muscle tissue	UBERON:0001135	51.01	gold quality
rectum	UBERON:0001052	50.99	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.97	gold quality
thymus	UBERON:0002370	50.95	gold quality
quadriceps femoris	UBERON:0001377	50.77	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
tonsil	UBERON:0002372	50.24	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-8	yes	8010.29
E-HCAD-1	yes	47.95
E-CURD-122	yes	29.97
E-CURD-46	yes	25.23
E-HCAD-10	yes	23.97
E-MTAB-10553	yes	12.84
E-ANND-3	yes	5.46
E-HCAD-29	no	67417.53
E-MTAB-7606	no	1355.84

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

19 targets.

Target	Regulation
CCL2	Activation
CD74	Activation
DIO1	Repression
GCH1	Activation
HLA-B	Activation
IGF2R	Activation
ITGAX	Activation
LGALS9	Activation
LPL	Unknown
MRC1	Repression
NFAT5	Activation
NOD2	Activation
PFKFB1	Repression
PFKFB3	Activation
PPARG	Activation
RIPK2	Activation
S100A10	Activation
SLC40A1	Repression
SOCS1	Activation

Upstream regulators (CollecTRI, top): AHR, AP1, ATF1, ATF2, ATF3, BCL3, BCL6, BHLHE40, CEBPB, CEBPG, CREB1, CREM, CTCF, CUX1, DLX4, DNMT3A, EGR1, EGR2, EOMES, EP300, ESR1, ETV5, EZH2, FOS, FOXA2, FOXC1, FOXN1, FOXP1, FOXP3, GATA1, GATA3, GLI2, GLI3, HAND1, HAND2, HLX, HMBOX1, HMGA1, HNF1A, HR

miRNA regulators (miRDB)

43 targeting IFNG, 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-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-8061	99.63	69.44	1411
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-505-3P	99.19	69.71	896

Literature-anchored findings (GeneRIF, showing 40)

• Penicillin conjugates interferon-gamma and reduces its activity (PMID:11700035)
• Interleukin-6, tumor necrosis factor alpha and interferon gamma serum levels in patients with anorexia nervosa. (PMID:11774563)
• effect on cell proliferation and apoptosis in conjunction with TNF-alpha (PMID:11781187)
• responses to Plasmodium falciparum liver-stage antigen-1 peptide (PMID:11781192)
• novel mechanism by which IFN-gamma can regulate IL-13 responses. (PMID:11786536)
• role of Sp1 and Sp3 in interferon-gamma mediated suppression of macrophage lipoprotein lipase gene transcription (PMID:11796707)
• produced by natural killer cell only upon reaching terminal functional differentiation (PMID:11830476)
• Transient exposure of human bronchial epithelial cells to IFNG leads to persistent increased expression of ICAM-1. (PMID:11831440)
• Two new single nucleotide polymorphisms of the promoter, along with their possible regulatory effects (PMID:11841489)
• P. gingivalis membrane vesicles apparently inhibited IFN-gamma-induced MHC class II by disrupting the IFN-gamma signaling transduction pathway. (PMID:11854199)
• IFN-gamma markedly up-regulated CD14 and MyD88 but not TLR4 protein and MD-2 mRNA expression in human gingival fibroblasts. (PMID:11854210)
• Description of three new polymorphisms in the intronic and 3’UTR regions of the interferon gamma gene (PMID:11857052)
• IL-12R beta 1- and IFN-gamma R1 signals co-ordinately regulate IFN-gamma production, but only IL-12 negatively controls IL-4 production. IL-12 and IFN-gamma signals are each sufficient for IFN-gamma production but both are needed for optimal production. (PMID:11857344)
• Those CD8-positive antigen-specific and alloantigen T-cells secreting interferon gamma have greater cytotoxic potential. (PMID:11861290)
• Regulation of nuclear gamma interferon gene expression by interleukin 12 (IL-12) and IL-2 represents a novel form of posttranscriptional control (PMID:11865054)
• S.stercoralis patients with HTLV-I showed a high frequency of expression of interferon gamma, but those without HTLV-I did not. (PMID:11876761)
• The roles of IFN gamma in protection against tumor development and cancer immunoediting (PMID:11900986)
• Candida albicans stimulates IFN-gamma production in an IL-18, IL-12, and IL-1beta dependent manner in human whole blood cultures (PMID:11920321)
• Results suggest that IFN-gamma facilitates TRAIL-induced activation of mitochondria-regulated as well as mitochondria-independent apoptotic pathways in breast tumour cells. (PMID:11936954)
• Vav activates the IFN-gamma promoter via upregulation of AP-1-binding through a Rac1/JNK pathway (PMID:11943142)
• Reduced levels of gamma-interferon secretion in response to chlamydial 60 kDa heat shock protein amongst women with pelvic inflammatory disease and a history of repeated Chlamydia trachomatis infections (PMID:11947926)
• Interferon-gamma-induced chromatin remodeling at the CIITA locus is BRG1 dependent (PMID:11953317)
• augmented mRNA and surface expression of TLR4 in monocytes and macrophages (PMID:11964313)
• Up-regulation of inducible nitric oxide synthase and nitric oxide in Helicobacter pylori-infected human gastric epithelial cells: possible role of interferon-gamma in polarized nitric oxide secretion. (PMID:11966872)
• conserved helix C region in the superfamily of interferon-gamma /interleukin-10-related cytokines corresponds to a high-affinity binding site for the HSP70 chaperone DnaK (PMID:11970958)
• role in inhibition of respiratory syncytial virus infection of human epithelial cells affected by 2’-5’-oligoadenylate synthetase (PMID:11980899)
• expressed in multiple sclerosis brain lesions (PMID:11984595)
• Cells from infected subjects cultured with ST-Ag all released high levels of gamma interferon (IFN-gamma) into the culture supernatant (PMID:11986281)
• Production of matrix metalloproteinase-9 in early stage B-CLL is suppressed by interferons alpha and gamma. (PMID:11986939)
• production by different populations of erythroid cells derived from human embryonal liver (PMID:11991675)
• Interferon-gamma-mediated downregulation of cholesterol efflux and ABC1 expression is by the Stat1 pathway. (PMID:12006410)
• identifies BRCA1 as a component of the IFN-gamma-regulated signaling pathway and suggests that BRCA1 may play a role in the regulation of IFN-gamma-mediated apoptosis (PMID:12011077)
• association of polymorphism with acute and chronic kidsney transplantation outcome (PMID:12042661)
• mutational switch of il-6 gives an interferon-gamma-like response (PMID:12060750)
• single nucleotide polymorphism in the proximal IFN-gamma promoter alters control of gene transcription (PMID:12070781)
• detected a significant positive correlation between TNF-alpha (r=0.55) and interferon-gamma (r=0.54) mRNA expression and the Beck Depression Inventory sum scores during an acute attack in multiple sclerosis patients (PMID:12084660)
• IFN-gamma plays a critical role in the protection of Schistosoma mansoni-infected patients against periportal fibrosis. (PMID:12097398)
• results indicate opposite effects of IFN-gamma and IL-4 on VEGF expression from normal and activated HF and HK (PMID:12102661)
• Considerable expression of mRNA for this protein was detected in trigeminal ganglia of BALB/C mouse brains during acute HSV-1 infection. (PMID:12162874)
• Lipid microdomains are required sites for the selective endocytosis and nuclear translocation of IFN-gamma. (PMID:12165521)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ifng1	ENSDARG00000024211
danio_rerio	ifng1r	ENSDARG00000045671
mus_musculus	Ifng	ENSMUSG00000055170
rattus_norvegicus	Ifng	ENSRNOG00000007468

Protein

Protein identifiers

Interferon gamma — P01579 (reviewed: P01579)

Alternative names: Immune interferon

All UniProt accessions (2): P01579, A0A7R8GUN6

UniProt curated annotations — full annotation on UniProt →

Function. Type II interferon produced by immune cells such as T-cells and NK cells that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation. Primarily signals through the JAK-STAT pathway after interaction with its receptor IFNGR1 to affect gene regulation. Upon IFNG binding, IFNGR1 intracellular domain opens out to allow association of downstream signaling components JAK2, JAK1 and STAT1, leading to STAT1 activation, nuclear translocation and transcription of IFNG-regulated genes. Many of the induced genes are transcription factors such as IRF1 that are able to further drive regulation of a next wave of transcription. Plays a role in class I antigen presentation pathway by inducing a replacement of catalytic proteasome subunits with immunoproteasome subunits. In turn, increases the quantity, quality, and repertoire of peptides for class I MHC loading. Increases the efficiency of peptide generation also by inducing the expression of activator PA28 that associates with the proteasome and alters its proteolytic cleavage preference. Up-regulates as well MHC II complexes on the cell surface by promoting expression of several key molecules such as cathepsins B/CTSB, H/CTSH, and L/CTSL. Participates in the regulation of hematopoietic stem cells during development and under homeostatic conditions by affecting their development, quiescence, and differentiation.

Subunit / interactions. Homodimer. Interacts with IFNGR1 (via extracellular domain); this interaction promotes IFNGR1 dimerization.

Subcellular location. Secreted.

Tissue specificity. Released primarily from activated T lymphocytes.

Post-translational modifications. Proteolytic processing produces C-terminal heterogeneity, with proteins ending alternatively at Gly-150, Met-157 or Gly-161.

Disease relevance. Aplastic anemia (AA) [MIM:609135] A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. Disease susceptibility may be associated with variants affecting the gene represented in this entry. Immunodeficiency 69 (IMD69) [MIM:618963] A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. IMD69 is an autosomal recessive disorder manifesting with fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. The disease is caused by variants affecting the gene represented in this entry.

Induction. By cytokines, most notably interleukin IL-12, secreted by professional antigen-presenting cells such as monocytes/macrophages and dendritic cells.

Similarity. Belongs to the type II (or gamma) interferon family.

RefSeq proteins (1): NP_000610* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002069	Interferon_gamma	Family
IPR009079	4_helix_cytokine-like_core	Homologous_superfamily

Pfam: PF00714

UniProt features (20 total): helix 9, glycosylation site 2, sequence variant 2, signal peptide 1, chain 1, turn 1, propeptide 1, region of interest 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
1FYH	X-RAY DIFFRACTION	2.04
3BES	X-RAY DIFFRACTION	2.2
1EKU	X-RAY DIFFRACTION	2.9
1FG9	X-RAY DIFFRACTION	2.9
9VNP	X-RAY DIFFRACTION	3.02
6E3K	X-RAY DIFFRACTION	3.25
1HIG	X-RAY DIFFRACTION	3.5
6E3L	X-RAY DIFFRACTION	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P01579-F1	85.76	0.69

Functional residue map

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

Post-translational modifications (1): 24

Glycosylation sites (2): 48, 120

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-877300	Interferon gamma signaling
R-HSA-877312	Regulation of IFNG signaling
R-HSA-8877330	RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
R-HSA-8950505	Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
R-HSA-9732724	IFNG signaling activates MAPKs
R-HSA-9942503	Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells)

MSigDB gene sets: 1003 (showing top): BROWNE_HCMV_INFECTION_30MIN_DN, PID_SHP2_PATHWAY, GOBP_MYELOID_CELL_DIFFERENTIATION, TGGTGCT_MIR29A_MIR29B_MIR29C, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_AUTOPHAGY, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_NUCLEOSIDE_DIPHOSPHATE_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_VIRUS, GOBP_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, GOBP_POSITIVE_REGULATION_OF_HEMOPOIESIS, GOBP_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION

GO Biological Process (69): negative regulation of transcription by RNA polymerase II (GO:0000122), microglial cell activation (GO:0001774), positive regulation of cytokine production (GO:0001819), adaptive immune response (GO:0002250), macrophage activation involved in immune response (GO:0002281), apoptotic process (GO:0006915), humoral immune response (GO:0006959), cell surface receptor signaling pathway (GO:0007166), cell surface receptor signaling pathway via JAK-STAT (GO:0007259), positive regulation of cell population proliferation (GO:0008284), response to virus (GO:0009615), positive regulation of autophagy (GO:0010508), positive regulation of gene expression (GO:0010628), negative regulation of gene expression (GO:0010629), positive regulation of epithelial cell migration (GO:0010634), macrophage differentiation (GO:0030225), negative regulation of epithelial cell differentiation (GO:0030857), negative regulation of interleukin-17 production (GO:0032700), positive regulation of chemokine production (GO:0032722), positive regulation of interleukin-1 beta production (GO:0032731), positive regulation of interleukin-12 production (GO:0032735), positive regulation of interleukin-23 production (GO:0032747), positive regulation of interleukin-6 production (GO:0032755), positive regulation of tumor necrosis factor production (GO:0032760), obsolete positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation involved in immune response (GO:0032834), positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141), positive regulation of smooth muscle cell apoptotic process (GO:0034393), Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096), type III interferon-mediated signaling pathway (GO:0038196), positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531), positive regulation of MHC class II biosynthetic process (GO:0045348), positive regulation of nitric oxide biosynthetic process (GO:0045429), positive regulation of osteoclast differentiation (GO:0045672), positive regulation of glycolytic process (GO:0045821), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of transcription by RNA polymerase II (GO:0045944), astrocyte activation (GO:0048143), negative regulation of smooth muscle cell proliferation (GO:0048662), positive regulation of inflammatory response (GO:0050729), positive regulation of phagocytosis (GO:0050766)

GO Molecular Function (3): cytokine activity (GO:0005125), type II interferon receptor binding (GO:0005133), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Interferon gamma signaling	2
Interferon Signaling	1
Transcriptional regulation by RUNX1	1
Interleukin-12 signaling	1
Differentiation of T cells	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
immune response	3
macrophage activation	2
gene expression	2
regulation of gene expression	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
leukocyte activation involved in inflammatory response	1
glial cell activation	1
cytokine production	1
regulation of cytokine production	1
positive regulation of gene expression	1
positive regulation of multicellular organismal process	1
myeloid cell activation involved in immune response	1
leukocyte activation involved in immune response	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
signal transduction	1
cell surface receptor signaling pathway via STAT	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
response to other organism	1
autophagy	1
positive regulation of catabolic process	1
regulation of autophagy	1
positive regulation of macromolecule biosynthetic process	1
negative regulation of macromolecule biosynthetic process	1
epithelial cell migration	1
regulation of epithelial cell migration	1
positive regulation of cell migration	1
myeloid leukocyte differentiation	1
mononuclear cell differentiation	1
epithelial cell differentiation	1
regulation of epithelial cell differentiation	1
negative regulation of cell differentiation	1
negative regulation of cytokine production	1
interleukin-17 production	1
regulation of interleukin-17 production	1

Protein interactions and networks

STRING

7348 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IFNG	IL1B	P01584	998
IFNG	IFNGR1	P15260	998
IFNG	IFNGR2	P38484	998
IFNG	CD4	P01730	991
IFNG	TNF	P01375	990
IFNG	IL4	P05112	990
IFNG	CSF3	P09919	989
IFNG	JAK2	O60674	989
IFNG	IL10	P22301	989
IFNG	IL2	P01585	988
IFNG	CD8A	P01732	987
IFNG	CSF2	P04141	982
IFNG	IL6	P05231	982
IFNG	IL3	P08700	981
IFNG	IL17A	Q16552	976

IntAct

13 interactions, top by confidence:

A	B	Type	Score
IFNGR1	IFNG	psi-mi:“MI:0407”(direct interaction)	0.880
IFNG	IFNGR1	psi-mi:“MI:0407”(direct interaction)	0.880
IFNG	IFNGR1	psi-mi:“MI:0914”(association)	0.880
IFNG	IFNGR1	psi-mi:“MI:0915”(physical association)	0.880
IFNG	C4R	psi-mi:“MI:0407”(direct interaction)	0.560
DCAF4	IGLL5	psi-mi:“MI:0914”(association)	0.350
IFNG	OPG193	psi-mi:“MI:0914”(association)	0.350
IFNG	TRIM38	psi-mi:“MI:0914”(association)	0.350
IFNG	MMP3	psi-mi:“MI:0914”(association)	0.350

BioGRID (22): IFNGR1 (Affinity Capture-MS), GOPC (Affinity Capture-MS), IFNG (Affinity Capture-MS), IFNG (Co-crystal Structure), IFNGR1 (Co-crystal Structure), IFNGR1 (Reconstituted Complex), IFNGR2 (Reconstituted Complex), GOPC (Affinity Capture-MS), IFNGR1 (Affinity Capture-MS), ACTB (Affinity Capture-MS), PDF (Affinity Capture-MS), NEDD4 (Affinity Capture-MS), MIB1 (Affinity Capture-MS), MYO18A (Affinity Capture-MS), LIMCH1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S4F550, A0A2B4SJZ1, A0A903V9Z8, C0HMB7, I7GVL4, O36307, O36405, O50917, O57199, O57571, O77763, P01579, P07611, P09807, P13776, P15628, P20147, P21030, P22622, P27737, P28027, P28341, P34431, P34566, P42160, P46402, P52473, P54890, Q01048, Q01479, Q12079, Q17F11, Q1PD52, Q1PDC9, Q1WM28, Q21738, Q5MIU2, Q5UQ37, Q62574, Q6UY68

Diamond homologs: A4PIZ9, O35497, O35735, O57571, O57603, O57608, O73915, O77763, P01579, P01580, P01581, P07353, P17773, P17803, P28333, P28341, P30123, P42160, P42161, P42162, P46402, P49708, P63309, P63310, P63311, P79154, Q1WM28, Q25BC0, Q2PE75, Q4ZH68, Q5CCK0, Q5I6S9, Q62574, Q647G2, Q7TSP4, Q865W6, Q865X1, Q865Y4, Q866Y6, Q8MKF5

SIGNOR signaling

38 interactions.

A	Effect	B	Mechanism
IFNG	“up-regulates quantity by expression”	SOCS1	“transcriptional regulation”
IFNG	“up-regulates activity”	RFX5
IFNG	“up-regulates activity”	IFNGR1	binding
IFNG	“up-regulates activity”	IFNGR2/INFGR1	binding
SOCS1	down-regulates	IFNG
IFNG	“down-regulates quantity by repression”	LPL	“transcriptional regulation”
IFNG	“up-regulates quantity by expression”	HLA-B	“transcriptional regulation”
IFNG	“up-regulates quantity by expression”	GCH1	“transcriptional regulation”
IFNG	“up-regulates quantity by expression”	NOD2	“transcriptional regulation”
IFNG	“up-regulates quantity by expression”	RIPK2	“transcriptional regulation”
IFNG	up-regulates	SLC11A1
PROX1	“down-regulates quantity by repression”	IFNG	“transcriptional regulation”
IFNG	“up-regulates quantity by expression”	S100A10	“transcriptional regulation”
IFNG	up-regulates	Inflammation
IL18	“up-regulates quantity by expression”	IFNG	“transcriptional regulation”
IL12A	“up-regulates quantity by expression”	IFNG	“transcriptional regulation”
T_cell_activation	“up-regulates quantity”	IFNG
IFNG	up-regulates	Immune_response
IFNG	up-regulates	ARDS
HMBOX1	“down-regulates quantity by repression”	IFNG	“transcriptional regulation”
M1_polarization	up-regulates	IFNG
IFNG	“up-regulates activity”	IL6	“transcriptional regulation”
STAT4	“up-regulates activity”	IFNG	“transcriptional regulation”
IFNG	up-regulates	IFNGR2	binding
IFNG	up-regulates	IFNGR1	binding
IFNG	down-regulates	MYOD1

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	22
Likely benign	6
Benign	5

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
14724	NC_000012.12:g.68159923C>A	Pathogenic
974678	NM_000619.3(IFNG):c.354_357del (p.Thr119fs)	Pathogenic

SpliceAI

338 predictions. Top by Δscore:

Variant	Effect	Δscore
12:68155483:GTTAC:G	acceptor_gain	1.0000
12:68155484:TTAC:T	acceptor_gain	1.0000
12:68155485:TAC:T	acceptor_gain	1.0000
12:68155485:TACCT:T	acceptor_loss	1.0000
12:68155486:AC:A	acceptor_gain	1.0000
12:68155487:CC:C	acceptor_gain	1.0000
12:68155487:CCTA:C	acceptor_loss	1.0000
12:68155488:C:CC	acceptor_gain	1.0000
12:68155492:C:CT	acceptor_gain	1.0000
12:68155493:G:T	acceptor_gain	1.0000
12:68157909:TCAC:T	donor_loss	1.0000
12:68157910:CAC:C	donor_loss	1.0000
12:68157911:A:AC	donor_gain	1.0000
12:68157912:C:CC	donor_gain	1.0000
12:68158091:CTCTC:C	acceptor_gain	1.0000
12:68158095:CCT:C	acceptor_gain	1.0000
12:68158097:T:C	acceptor_gain	1.0000
12:68158097:T:TC	acceptor_gain	1.0000
12:68158185:GCTTA:G	donor_loss	1.0000
12:68158186:CTTA:C	donor_loss	1.0000
12:68158187:TTAC:T	donor_loss	1.0000
12:68158188:TA:T	donor_loss	1.0000
12:68158189:A:AG	donor_loss	1.0000
12:68158190:C:A	donor_loss	1.0000
12:68158190:CCT:C	donor_gain	1.0000
12:68158255:GCATT:G	acceptor_gain	1.0000
12:68158256:CATT:C	acceptor_gain	1.0000
12:68158256:CATTC:C	acceptor_gain	1.0000
12:68158257:ATT:A	acceptor_gain	1.0000
12:68158258:TT:T	acceptor_gain	1.0000

AlphaMissense

1119 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:68155447:A:G	L136P	0.995
12:68158069:G:C	S70R	0.992
12:68158069:G:T	S70R	0.992
12:68158071:T:G	S70R	0.992
12:68155460:C:G	A132P	0.991
12:68155465:C:G	R130P	0.990
12:68159515:A:G	L34P	0.987
12:68155459:G:T	A132E	0.986
12:68155450:T:A	E135V	0.984
12:68155447:A:T	L136H	0.980
12:68157926:A:G	L118P	0.980
12:68158043:A:G	L79P	0.979
12:68159515:A:T	L34H	0.978
12:68155467:T:A	Q129H	0.977
12:68155467:T:G	Q129H	0.977
12:68155447:A:C	L136R	0.976
12:68158061:A:T	V73D	0.974
12:68158219:A:G	F52S	0.972
12:68157934:G:C	F115L	0.970
12:68157934:G:T	F115L	0.970
12:68157936:A:G	F115L	0.970
12:68155426:A:G	L143P	0.967
12:68155450:T:G	E135A	0.967
12:68157935:A:C	F115C	0.967
12:68155456:A:T	I133K	0.966
12:68157935:A:G	F115S	0.966
12:68158218:G:C	F52L	0.964
12:68158218:G:T	F52L	0.964
12:68158220:A:G	F52L	0.964
12:68158064:A:T	I72N	0.962

dbSNP variants (sampled 300 via entrez): RS1000380019 (12:68155638 G>A), RS1000425314 (12:68157285 G>A,C,T), RS1001253993 (12:68161097 C>T), RS1001383949 (12:68157129 A>C,G), RS1001476793 (12:68156810 G>A), RS1002096045 (12:68155690 C>T), RS1002148349 (12:68155099 C>G), RS1002969164 (12:68159411 C>T), RS1004647535 (12:68157670 C>A,T), RS1004746993 (12:68158681 A>T), RS1005340873 (12:68160341 G>A), RS1005701531 (12:68160016 A>C), RS1005887996 (12:68161135 G>C), RS1006192653 (12:68154391 C>T), RS1006275065 (12:68156391 C>A)

Disease associations

OMIM: gene MIM:147570 | disease phenotypes: MIM:609135, MIM:613254, MIM:618963

GenCC curated gene-disease

Disease	Classification	Inheritance
immunodeficiency 69	Moderate	Autosomal recessive

Mondo (4): aplastic anemia, susceptibility to (MONDO:0800414), aplastic anemia (MONDO:0015909), tuberous sclerosis 2 (MONDO:0013199), immunodeficiency 69 (MONDO:0033541)

Orphanet (4): Rare aplastic anemia (Orphanet:182040), Idiopathic aplastic anemia (Orphanet:88), Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency (Orphanet:699618), Tuberous sclerosis complex (Orphanet:805)

HPO phenotypes

110 total (30 of 110 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000077	Abnormality of the kidney
HP:0000083	Renal insufficiency
HP:0000107	Renal cyst
HP:0000113	Polycystic kidney dysplasia
HP:0000169	Gingival fibromatosis
HP:0000225	Gingival bleeding
HP:0000365	Hearing impairment
HP:0000421	Epistaxis
HP:0000573	Retinal hemorrhage
HP:0000708	Atypical behavior
HP:0000716	Depression
HP:0000717	Autism
HP:0000718	Aggressive behavior
HP:0000729	Autistic behavior
HP:0000739	Anxiety
HP:0000752	Hyperactivity
HP:0000821	Hypothyroidism
HP:0000822	Hypertension
HP:0000826	Precocious puberty
HP:0000957	Cafe-au-lait spot
HP:0000988	Skin rash
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001328	Specific learning disability
HP:0001407	Hepatic cysts
HP:0001433	Hepatosplenomegaly
HP:0001482	Subcutaneous nodule
HP:0001508	Failure to thrive

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST000311_2	Ulcerative colitis	3.000000e-12
GCST000624_12	Ulcerative colitis	4.000000e-12
GCST000964_37	Ulcerative colitis	1.000000e-16
GCST001725_19	Inflammatory bowel disease	9.000000e-32
GCST004861_12	Itch intensity from mosquito bite	2.000000e-20
GCST004862_200	Itch intensity from mosquito bite adjusted by bite size	6.000000e-07
GCST004862_97	Itch intensity from mosquito bite adjusted by bite size	4.000000e-11
GCST004865_10	Itch intensity from mosquito bite adjusted by bite size	9.000000e-10
GCST004866_10	Alopecia areata	4.000000e-07
GCST005025_8	Anti-saccade response	3.000000e-06
GCST005752_57	Systemic lupus erythematosus	2.000000e-07
GCST007400_71	Systemic lupus erythematosus	3.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0006874	antisaccade response measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D000741	Anemia, Aplastic	C15.378.050.085; C15.378.190.223.250
C566021	Tuberous Sclerosis 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3286073 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2430561	Efficacy	3	Tumor necrosis factor alpha (TNF-alpha) inhibitors	Crohn Disease;Inflammatory Bowel Diseases

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2069705	IFNG		0.00	0
rs2430561	IFNG	3	2.75	1	Tumor necrosis factor alpha (TNF-alpha) inhibitors
rs2069716	IFNG		0.00	0
rs1861494	IFNG		0.00	0

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.16	Kd	7000	nM	CHEMBL3288260
5.00	Kd	1e+04	nM	CHEMBL3288259

PubChem BioAssay actives

2 with measured affinity, of 3 total; 2 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
nonasodium;(2R,3S,4S,5R,6R)-6-[(2R,3S,4R,5R,6R)-5-acetamido-6-[(2R,3S,4S,5R,6R)-6-[(2R,3S,4R,5R,6R)-6-[(2R,3S,4R,5R,6R)-6-[(2R,3S,4R,5R,6S)-5-acetamido-4-hydroxy-6-pentoxy-2-(sulfonatooxymethyl)oxan-3-yl]oxy-2-carboxylato-4,5-dihydroxyoxan-3-yl]oxy-4-hydroxy-5-(sulfonatoamino)-2-(sulfonatooxymethyl)oxan-3-yl]oxy-2-carboxylato-4-hydroxy-5-sulfonatooxyoxan-3-yl]oxy-4-hydroxy-2-(sulfonatooxymethyl)oxan-3-yl]oxy-3,4-dihydroxy-5-sulfonatooxyoxane-2-carboxylate	1152100: Binding affinity to human recombinant IFN-gamma by surface plasmon resonance assay	kd	7.0000	uM
nonasodium;(2R,3S,4S,5R,6R)-6-[(2R,3S,4R,5R,6R)-6-[(2R,3S,4S,5R,6R)-6-[(2R,3S,4R,5R,6R)-6-[(2R,3S,4S,5R,6R)-6-[(2R,3S,4R,5R,6S)-6-(5-aminopentoxy)-4-hydroxy-2-(hydroxymethyl)-5-(sulfonatoamino)oxan-3-yl]oxy-2-carboxylato-4-hydroxy-5-sulfonatooxyoxan-3-yl]oxy-4-hydroxy-2-(hydroxymethyl)-5-(sulfonatoamino)oxan-3-yl]oxy-2-carboxylato-4-hydroxy-5-sulfonatooxyoxan-3-yl]oxy-4-hydroxy-2-(hydroxymethyl)-5-(sulfonatoamino)oxan-3-yl]oxy-3,4-dihydroxy-5-sulfonatooxyoxane-2-carboxylate	1152100: Binding affinity to human recombinant IFN-gamma by surface plasmon resonance assay	kd	10.0000	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Lipopolysaccharides	affects expression, affects localization, affects secretion, increases abundance, decreases expression (+10 more)	48
Tetradecanoylphorbol Acetate	decreases reaction, increases secretion, increases activity, increases reaction, decreases expression (+3 more)	19
Particulate Matter	affects methylation, decreases expression, affects expression, decreases secretion, increases expression (+6 more)	15
Resveratrol	affects cotreatment, increases expression, increases localization, increases response to substance, decreases reaction (+6 more)	12
Dexamethasone	affects reaction, decreases secretion, increases secretion, increases phosphorylation, increases reaction (+4 more)	12
Tretinoin	increases expression, affects reaction, increases phosphorylation, increases reaction, affects cotreatment (+7 more)	11
Ionomycin	decreases reaction, increases secretion, increases activity, affects reaction, affects cotreatment (+2 more)	11
Vehicle Emissions	affects cotreatment, decreases expression, affects expression, increases expression	9
Nitric Oxide	increases reaction, decreases reaction, increases abundance, increases secretion, affects response to substance (+2 more)	9
Air Pollutants	decreases reaction, increases phosphorylation, affects methylation, increases abundance, increases methylation (+5 more)	8
nickel sulfate	increases reaction, affects expression, affects cotreatment, decreases expression, decreases reaction (+2 more)	7
SB 203580	decreases reaction, increases chemical synthesis, decreases response to substance, affects binding, decreases expression (+4 more)	7
Zinc	increases secretion, affects cotreatment, affects reaction, increases cleavage, decreases uptake (+2 more)	7
alpha-cyano-(3,4-dihydroxy)-N-benzylcinnamide	decreases reaction, increases expression, increases phosphorylation, affects cotreatment, increases secretion (+2 more)	6
Ozone	increases methylation, affects cotreatment, decreases expression, affects methylation, increases abundance (+1 more)	6
Tacrolimus	decreases secretion, affects cotreatment, decreases expression, decreases reaction, increases expression	6
Cyclosporine	affects cotreatment, decreases expression, decreases reaction, increases expression, increases secretion (+1 more)	6
Simvastatin	affects reaction, decreases expression, decreases secretion, decreases reaction, increases expression (+1 more)	6
2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	decreases reaction, increases expression, decreases phosphorylation, affects cotreatment, increases chemical synthesis (+3 more)	5
Decitabine	increases expression, increases reaction, decreases reaction, affects cotreatment, increases activity (+1 more)	5
Arsenic Trioxide	decreases expression, increases activity, increases reaction, increases expression, increases phosphorylation	5
Histamine	decreases reaction, increases expression, affects expression, affects binding, affects reaction (+4 more)	5
Methotrexate	increases expression, decreases expression, decreases reaction, affects reaction, decreases secretion (+1 more)	5
Quercetin	increases secretion, affects cotreatment, decreases reaction, increases expression, increases abundance (+1 more)	5
Ribavirin	affects reaction, increases secretion, increases expression, decreases reaction, decreases expression (+1 more)	5
Cadmium Chloride	increases secretion, decreases reaction, increases expression, increases phosphorylation, affects cotreatment (+2 more)	5
deoxynivalenol	affects cotreatment, decreases reaction, increases expression, affects expression, increases abundance	4
Ribomunyl	increases secretion, increases expression, increases reaction, affects cotreatment, decreases reaction	4
4-(4-fluorophenyl)-2-(4-hydroxyphenyl)-5-(4-pyridyl)imidazole	increases expression, increases secretion, increases reaction, affects cotreatment, decreases reaction	4
3-(4-methylphenylsulfonyl)-2-propenenitrile	affects cotreatment, decreases reaction, increases expression, increases phosphorylation, increases secretion	4

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3293897	Binding	Binding affinity to human recombinant IFN-gamma by surface plasmon resonance assay	Synthesis and biological evaluation of a unique heparin mimetic hexasaccharide for structure-activity relationship studies. — J Med Chem

Cellosaurus cell lines

24 cell lines: 17 transformed cell line, 7 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_3711	CHO E-10C101-250	Transformed cell line	Female
CVCL_B0Z6	Abcam Jurkat IFNG KO	Cancer cell line	Male
CVCL_B7TC	ACN/IFN-gamma	Cancer cell line	Sex unspecified
CVCL_B7TE	SK/IFN-gamma	Cancer cell line	Male
CVCL_E4CP	NCI-H69/IFN-gamma	Cancer cell line	Male
CVCL_E4CR	NCI-H69/IL2/IFN-gamma	Cancer cell line	Male
CVCL_E4CS	NCI-N592/IFN-gamma	Cancer cell line	Male
CVCL_E4CU	NCI-N592/IL2/IFN-gamma	Cancer cell line	Male
CVCL_E4HM	CHO E-10B	Transformed cell line	Female
CVCL_E4HN	CHO E-10C	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01818726	PHASE4	TERMINATED	Safety and Efficacy of Exjade in the Treatment of Transfusion-dependent Iron Overload in Aplastic Anemia Patients
NCT01995331	PHASE4	UNKNOWN	Moderate-dose Cyclophosphamide for Childhood Acquired Aplastic Anemia
NCT01997372	PHASE4	UNKNOWN	Different Doses of Anti-thymocyte Globin to Treat Child Severe Aplastic Anemia
NCT02745717	PHASE4	COMPLETED	The Efficacy of Immunosuppressive Therapy Combined With Cord Blood Transfusion in Treatment of Severe Aplastic Anemia
NCT02838992	PHASE4	UNKNOWN	ATG Combined With Cyclophosphamide And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia
NCT02875743	PHASE4	COMPLETED	King’s Invasive Aspergillosis Study II
NCT03176849	PHASE4	COMPLETED	A Randomized Phase IV Control Trial of Single High Dose Oral Vitamin D3 in Pediatric Patients Undergoing HSCT
NCT03896971	PHASE4	COMPLETED	Combination of Thrombopoietin Mimetic and Immunosuppressive Therapy in Aplastic Anaemia
NCT05996393	PHASE4	COMPLETED	CsA+ATG+AVA vs. CsA+AVA for the Treatment of Newly-diagnosed SAA in the Elderly
NCT06004791	PHASE4	UNKNOWN	A Prospective, Randomized, Controlled Study of rhTPO in Combination With Herombopag + CsA vs Herombopag + CsA for the Treatment of Primary TD-NSAA
NCT06009965	PHASE4	UNKNOWN	Efficacy of IST Combined With TPO-RA in the Treatment of AA and Establishment of a Recurrence Prediction System
NCT06069180	PHASE4	UNKNOWN	The Optimization of Conditioning Regimen for HLA Matched HSCT in SAA
NCT06424639	PHASE4	NOT_YET_RECRUITING	Luspatercept Plus CsA vs CsA for the Treatment of Newly Diagnosed Non-Transfusion-Dependent NSAA
NCT06426043	PHASE4	NOT_YET_RECRUITING	A Prospective Study on the Treatment of Recurrent/Refractory/Intolerable NSAA With Lusutrombopag
NCT06516484	PHASE4	NOT_YET_RECRUITING	Ropustin for Refractory Aplastic Anaemia After Radiotherapy - a Single-centre, Prospective, Open-label, Single-arm Study
NCT06525948	PHASE4	NOT_YET_RECRUITING	Efficacy and Safety of rhTPO in Combination With Cyclosporine Versus Cyclosporine Alone in the Treatment of TD-NSAA
NCT06535685	PHASE4	NOT_YET_RECRUITING	A Study of Romiplostim for the Treatment of Refractory Transfusion-dependent NSAA
NCT00004474	PHASE3	COMPLETED	Phase III Randomized Study of Cyclophosphamide With or Without Antithymocyte Globulin Before Bone Marrow Transplantation in Patients With Aplastic Anemia
NCT01145976	PHASE3	UNKNOWN	Comparison of Cy-Atg vs Flu-Atg for the Conditioning Therapy in Allo-HCT for Adult Aplastic Anemia
NCT01343680	PHASE3	TERMINATED	Trial of Two Central Venous Catheter (CVC) Flushing Schemes in Pediatric Hematology and Oncology Patients
NCT02099747	PHASE3	COMPLETED	hATG+CsA vs hATG+CsA+Eltrombopag for SAA
NCT03825744	PHASE3	COMPLETED	Hetrombopag or Placebo in Treatment-Naive Severe Aplastic Anemia
NCT04350606	PHASE3	COMPLETED	A Study to Assess Efficacy and Safety of PF-06462700 in Japanese Participants With Aplastic Anemia
NCT05600426	PHASE3	ACTIVE_NOT_RECRUITING	A Trial Comparing Unrelated Donor BMT With IST for Pediatric and Young Adult Patients With Severe Aplastic Anemia (TransIT, BMT CTN 2202)
NCT06940570	PHASE3	SUSPENDED	Methadone as an Alternative Treatment for Children Underdoing HSCT
NCT07001397	PHASE3	NOT_YET_RECRUITING	Study on the Short-term Efficacy and Safety of Recombinant Human Thrombopoietin Combined With Immunosuppressant Sequential Eltrombopag Ethanolamine Dry Suspension in the Treatment of SAA/TD-NSAA
NCT00001962	PHASE2	TERMINATED	A Study to Determine Whether Therapy With Daclizumab Will Benefit Patients With Bone Marrow Failure
NCT00001964	PHASE2	COMPLETED	Combination Therapy of Severe Aplastic Anemia
NCT00004143	PHASE2	COMPLETED	Allogeneic Mixed Chimerism Stem Cell Transplant Using Campath for Hemoglobinopathies & Bone Marrow Failure Syndromes
NCT00004323	PHASE2	COMPLETED	Phase II Study of Bone Marrow Transplantation Using Related Donors in Patients With Aplastic Anemia
NCT00004464	PHASE2	COMPLETED	Study of High Dose Cyclophosphamide in Patients With Severe Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria
NCT00005935	PHASE2	COMPLETED	Mycophenolate Mofetil and Cyclosporine to Treat Relapsing Aplastic Anemia
NCT00053989	PHASE2	COMPLETED	NMA Allogeneic Hematopoietic Cell Transplant in Hematologic Cancer/Disorders
NCT00061360	PHASE2	COMPLETED	Improving Immunosuppressive Treatment for Patients With Severe Aplastic Anemia
NCT00065260	PHASE2	COMPLETED	Rabbit Antithymocyte Globulin Versus Campath-1H for Treating Severe Aplastic Anemia
NCT00343785	PHASE2	COMPLETED	Cyclophosphamide and Anti-thymocyte Globulin Followed By Methotrexate and Cyclosporine in Preventing Chronic Graft-Versus-Host Disease in Patients With Severe Aplastic Anemia Undergoing Donor Bone Marrow Transplant
NCT00358657	PHASE2	TERMINATED	Fludarabine Phosphate, Cyclophosphamide, and Total-Body Irradiation Followed by Donor Bone Marrow Transplant and Cyclophosphamide, Mycophenolate Mofetil, Tacrolimus, and Sirolimus in Treating Patients With Primary Immunodeficiency Disorders or Noncancerous Inherited Disorders
NCT00471848	PHASE2	COMPLETED	Rabbit Antithymocyte Globulin (Thymoglobuline) With Ciclosporin for Patients With Acquired Aplastic Anaemia
NCT00516152	PHASE2	COMPLETED	Phase II Study Evaluating Busulfan and Fludarabine as Preparative Therapy in Adults With Hematopoietic Disorders Undergoing MUD SCT
NCT00533923	PHASE2	COMPLETED	Nonmyeloablative Allogeneic Stem Cell Transplantation From HLA-Matched Unrelated Donor for the Treatment of Hematologic Disorders