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CAST

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Summary

CAST (calpastatin, HGNC:1515) is a long non-coding RNA gene on chromosome 5q15. Specific inhibition of calpain (calcium-dependent cysteine protease).

The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 831 — RefSeq curated summary.

At a glance

  • Gene type: non-coding (lncRNA) — no protein product.
  • GTEx eGene: eQTL in 48 tissues, sQTL in 50 (q < 0.05)
  • Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.21 (unconstrained)

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:1515
Approved symbolCAST
Namecalpastatin
Location5q15
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000153113
Ensembl biotypelncRNA
OMIM114090
Entrez831

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 11 lncRNA

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 2: 1, TSL 3: 2, TSL 4: 1, TSL 5: 1

ENST00000502645, ENST00000507997, ENST00000511775, ENST00000513158, ENST00000513926, ENST00000718075, ENST00000718076, ENST00000718077, ENST00000718089, ENST00000718090, ENST00000718092

RefSeq mRNA: 0

Canonical transcript exons

ENST00000502645 — 6 exons

ExonStartEnd
ENSE000020308029637956696379652
ENSE000020580499631847396318544
ENSE000020829509596200195962036
ENSE000024592869630872496308882
ENSE000040340559611093496111005
ENSE000040340569638104396381384

Expression profiles

Bgee: expression breadth ubiquitous, 301 present calls, max score 99.48.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4512 / max 65.3159, expressed in 153 samples.

Highest expression (Bgee): calcaneal tendon, bronchial epithelial cell, colonic epithelium, penis, synovial joint.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CAST is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 48 tissues and its splicing (sQTL) in 50 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 98 significant tissue × QTL associations:

TissueQTLq-valueSlopeLead variant
Adipose Subcutaneoussqtl0.0e+00+1.495:96740783:G:A
Adipose Visceral Omentumsqtl0.0e+00+1.455:96740783:G:A
Artery Tibialsqtl0.0e+00+1.515:96740783:G:A
Cells Cultured fibroblastssqtl0.0e+00+1.565:96740783:G:A
Esophagus Mucosasqtl0.0e+00+1.595:96740783:G:A
Lungsqtl0.0e+00+1.525:96740783:G:A
Muscle Skeletalsqtl0.0e+00+1.525:96740783:G:A
Nerve Tibialsqtl0.0e+00+1.495:96740783:G:A
Skin Sun Exposed Lower legsqtl0.0e+00+1.515:96740783:G:A
Thyroidsqtl0.0e+00+1.535:96740783:G:A
Whole Bloodsqtl0.0e+00+1.575:96740783:G:A
Esophagus Muscularissqtl3.7e-313+1.525:96740783:G:A
Breast Mammary Tissuesqtl1.3e-291+1.535:96740783:G:A
Colon Transversesqtl2.0e-288+1.545:96725995:C:T
Heart Atrial Appendagesqtl5.0e-278+1.555:96740783:G:A
Artery Aortasqtl6.2e-262+1.435:96725995:C:T
Heart Left Ventriclesqtl3.6e-221+1.635:96740783:G:A
Skin Not Sun Exposed Suprapubicsqtl3.7e-211+1.495:96740783:G:A
Esophagus Gastroesophageal Junctionsqtl6.3e-208+1.525:96725995:C:T
Colon Sigmoidsqtl9.3e-178+1.565:96725995:C:T

FANTOM5 promoters

showing 10 of 29 alternative TSS:

Promoter IDTPM avgSamples expressed
5769131.03031741
5768321.00971716
5768511.93711575
5768410.17401542
576877.81361367
576926.10301526
576864.14571394
576802.89251240
576782.73661235
576822.45911168

Top tissues by expression

showing 100 of 301 tissues by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
calcaneal tendonUBERON:000370199.48gold quality
bronchial epithelial cellCL:000232899.39gold quality
colonic epitheliumUBERON:000039799.34gold quality
penisUBERON:000098999.33gold quality
synovial jointUBERON:000221799.25gold quality
oral cavityUBERON:000016799.23gold quality
lower esophagus mucosaUBERON:003583499.23gold quality
urethraUBERON:000005799.21gold quality
upper leg skinUBERON:000426299.20gold quality
epithelium of bronchusUBERON:000203199.12gold quality
bronchusUBERON:000218599.09gold quality
pharyngeal mucosaUBERON:000035599.08gold quality
skin of hipUBERON:000155499.07gold quality
esophagus mucosaUBERON:000246999.05gold quality
tongue squamous epitheliumUBERON:000691999.04gold quality
esophagus squamous epitheliumUBERON:000692099.03gold quality
palpebral conjunctivaUBERON:000181299.00gold quality
upper arm skinUBERON:000426398.98gold quality
mucosa of paranasal sinusUBERON:000503098.98gold quality
epithelium of nasopharynxUBERON:000195198.96gold quality
nasopharynxUBERON:000172898.94gold quality
myocardiumUBERON:000234998.93gold quality
gingivaUBERON:000182898.92gold quality
gingival epitheliumUBERON:000194998.91gold quality
epithelium of esophagusUBERON:000197698.89gold quality
left ventricle myocardiumUBERON:000656698.89gold quality
vaginaUBERON:000099698.87gold quality
squamous epitheliumUBERON:000691498.86gold quality
monocyteCL:000057698.81gold quality
tendonUBERON:000004398.81gold quality
heart right ventricleUBERON:000208098.78gold quality
mononuclear cellCL:000084298.77gold quality
caput epididymisUBERON:000435898.77gold quality
cauda epididymisUBERON:000436098.77gold quality
body of tongueUBERON:001187698.77gold quality
nasal cavity mucosaUBERON:000182698.75gold quality
colonic mucosaUBERON:000031798.74gold quality
cardiac atriumUBERON:000208198.73gold quality
biceps brachiiUBERON:000150798.71gold quality
cardiac ventricleUBERON:000208298.71gold quality
right atrium auricular regionUBERON:000663198.71gold quality
heart left ventricleUBERON:000208498.70gold quality
leukocyteCL:000073898.69gold quality
germinal epithelium of ovaryUBERON:000130498.69gold quality
mammalian vulvaUBERON:000099798.68gold quality
rectumUBERON:000105298.67gold quality
mucosa of sigmoid colonUBERON:000499398.66gold quality
olfactory segment of nasal mucosaUBERON:000538698.62gold quality
urinary bladderUBERON:000125598.61gold quality
cardiac muscle of right atriumUBERON:000337998.61gold quality
gastrocnemiusUBERON:000138898.60gold quality
zone of skinUBERON:000001498.59gold quality
cervix epitheliumUBERON:000480198.57gold quality
heartUBERON:000094898.56gold quality
tongueUBERON:000172398.53gold quality
tonsilUBERON:000237298.53gold quality
amniotic fluidUBERON:000017398.52gold quality
skin of legUBERON:000151198.52gold quality
skin of abdomenUBERON:000141698.51gold quality
muscle of legUBERON:000138398.50gold quality
mammary ductUBERON:000176598.50gold quality
nasal cavity epitheliumUBERON:000538498.50gold quality
parietal pleuraUBERON:000240098.49gold quality
bone marrow cellCL:000209298.47gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450298.45gold quality
esophagusUBERON:000104398.44gold quality
jejunumUBERON:000211598.44gold quality
blood vessel layerUBERON:000479798.44gold quality
pleuraUBERON:000097798.42gold quality
deltoidUBERON:000147698.42gold quality
sural nerveUBERON:001548898.41gold quality
saphenous veinUBERON:000731898.39gold quality
superficial temporal arteryUBERON:000161498.38gold quality
visceral pleuraUBERON:000240198.33gold quality
uterine cervixUBERON:000000298.32gold quality
mammary glandUBERON:000191198.32gold quality
thoracic mammary glandUBERON:000520098.32gold quality
tibialis anteriorUBERON:000138598.31gold quality
epithelium of mammary glandUBERON:000324498.31gold quality
eyeUBERON:000097098.27gold quality
popliteal arteryUBERON:000225098.26gold quality
tibial arteryUBERON:000761098.26gold quality
descending thoracic aortaUBERON:000234598.25gold quality
oviduct epitheliumUBERON:000480498.25gold quality
lower lobe of lungUBERON:000894998.25gold quality
mucosa of stomachUBERON:000119998.23gold quality
jejunal mucosaUBERON:000039998.22gold quality
gluteal muscleUBERON:000200098.22gold quality
mouth mucosaUBERON:000372998.22gold quality
vena cavaUBERON:000408798.22gold quality
arteryUBERON:000163798.20gold quality
cervix squamous epitheliumUBERON:000692298.20gold quality
pericardiumUBERON:000240798.17gold quality
apex of heartUBERON:000209898.13gold quality
trigeminal ganglionUBERON:000167598.12gold quality
superior surface of tongueUBERON:000737198.11gold quality
minor salivary glandUBERON:000183098.10gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451198.10gold quality
aortaUBERON:000094798.09gold quality
hair follicleUBERON:000207398.09gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-CURD-112yes23.61
E-MTAB-9388yes11.26
E-ANND-3no0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cellAxisnTPMProtein (IHC)
Esophagustissue322.1medium
Heart muscletissue284.3medium
Skeletal muscletissue184.2medium
Vaginatissue175.3medium
Tonguetissue155.3
Colontissue150.1medium
Skin 1tissue148.7medium
Rectumtissue139.3medium
Adipose tissuetissue131.1not detected
Small intestinetissue129.2medium
Urinary bladdertissue121.0medium
Duodenumtissue113.3medium
Bone marrowtissue112.3low
Livertissue109.3low
Placentatissue108.8medium
Choroid plexustissue106.0
Lungtissue105.6medium
Parathyroid glandtissue105.0medium
Tonsiltissue97.9medium
Stomach 1tissue94.9medium
Prostatetissue94.1medium
Testistissue92.4medium
Thyroid glandtissue91.6medium
Smooth muscletissue86.2medium
Locus coeruleustissue83.4
Appendixtissue81.2medium
Breasttissue76.7medium
Salivary glandtissue75.1medium
Kidneytissue75.0medium
Fallopian tubetissue74.8medium
Seminal vesicletissue74.2medium
Gallbladdertissue73.8medium
Ovarytissue67.8low
Endometrium 1tissue63.9medium
Cervixtissue61.1medium
Spleentissue60.4not detected
Postcentral gyrustissue56.6
Adrenal glandtissue54.5medium
Spinal cordtissue54.0
Pancreastissue52.9medium
Hippocampustissue50.8not detected
Lymph nodetissue49.5medium
Nucleus accumbenstissue46.7
Epididymistissue46.1medium
Pituitary glandtissue44.6
Superior colliculitissue44.5
Thymustissue40.3
Medulla oblongatatissue35.9
Substantia nigratissue35.2
Thalamustissue34.4
Ponstissue33.8
Midbraintissue30.9
Hypothalamustissue28.4
Periaqueductal graytissue28.3
Corpus callosumtissue26.1
Cerebral cortextissue25.9low
Somatosensory cortextissue25.9
Septumtissue25.1
Hippocampal formationtissue24.8
Occipital cortextissue23.2

Brain sub-regions (HPA Brain Atlas): detected in 390; highest nTPM — Blood vessel (133.6), Nucleus raphe pallidus (89.0), Spinal trigeminal nucleus, interpolar (82.5), Area postrema (82.3), Kolliker-Fuse nucleus (82.0).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, JUN, MYC, NFKBIA

Functional genomics

gnomAD constraint: pLI 6.05e-05, LOEUF 1.21, missense Z -0.461 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Literature-anchored findings (GeneRIF, showing 40)

  • involved in the proteolysis of amyloid precursor protein, which is thought to be abnormal in patients with Alzheimer’s disease (PMID:11849768)
  • Overexpression of calpastatin reduced muscle atrophy during 10 day unloading period. Overexpression completely prevented shift in myofibrillar myosin content from slow to fast isoforms, which normally occurs in muscle unloading. (PMID:12482888)
  • insights into how the calpain/calpastatin network is spatially and temporally regulated in cells binding to the extracellular matrix (PMID:14559243)
  • calpastatin and calpain-1 represent critical proximal elements in a cascade of pro-apoptotic events leading to Bax, mitochondria, and caspase-3 activation (PMID:14612448)
  • Calpastatin amino acid side chains at leucine-11 and isoleucine-18 interact with hydrophobic pockets in calpain, and each of these interactions is indispensable for effective inhibition of calpain. (PMID:14992597)
  • Overexpression of calpastatin in transgenic mice is associated with an increase in GLUT4 protein. (PMID:15014085)
  • A complete calpain-calpastatin system is expressed in the human oocyte and may play a role in the various calcium-mediated processes occurring during activation of human oocytes. (PMID:15950654)
  • CS(L) modulates Ca2+-channel activity through interacting with the calmodulin-binding site on the C-terminal tail of the Cav1.2 channel. (PMID:17950697)
  • The activity of calpain in human peripheral blood lymphocytes, was estimated by assessing the levels of limited proteolysis of calpastatin. (PMID:18165173)
  • Results suggest a regulation on the calpain-calpastatin expression response to muscle damaging eccentric exercise, but not concentric exercise. (PMID:18340456)
  • genetically determined IL-1alpha levels may modulate transcription of calpain and calpastatin (PMID:18498295)
  • NMR data of calapastin tripartite binding mode to capain induced by calcium were presented. (PMID:18519038)
  • performed a full NMR assignment of hCSD1 to characterize it in its solution state (PMID:18537264)
  • c-Myc regulates calpain activity through calpastatin; apoptosis induced by calpain inhibition is dependent on c-Myc, and calpastatin knockdown promotes transformation in c-Myc-negative cells (PMID:18544539)
  • Proof of concept that the calpastatin-based reagents may be useful to selectively detect the active conformation of calpain. (PMID:18793761)
  • Role of the calpain-calpastatin system in the density-dependent growth arrest. (PMID:18809371)
  • recruitment of calpastatin into aggregates allows translocation and activation of protease to the membranes; on the contrary, the presence of large amounts of calpastatin in the cytosol prevents both processes, protecting the cell from proteolysis (PMID:19103264)
  • Overexpression of calpain-2 and low expression of calpastatin may involve in the pathological development of stress urinary incontinence. (PMID:19756344)
  • A confirmation study reports that a single nucleotide polymorphism and CAST are associated with Parkinson disease. (PMID:20127884)
  • Variations in CAST gene is associated with femoral neck Low bone mineral density. (PMID:21424381)
  • The data supports the hypothesis that calpastatin may play a role in regulating the initial metastatic dissemination of breast cancer. (PMID:21531560)
  • intervertebral discs at early stages of degeneration expressed low levels of calpastatin, and few cells expressed degenerative enzymes. At more advanced stages of degeneration, expression and number of cells immunopositive for calpastatin were higher (PMID:21839844)
  • CSL competes with CaM as a partial agonist for the site in the IQ domain in the C-terminal region of the Cav1.2 channel, which may be involved in activation of the channel. (PMID:21937422)
  • calpain basal activity becomes measurable at a significant extent in peripheral blood mononuclear cells from cystic fibrosis patients due to a 40-60% decrease in both calpastatin protein and inhibitory activity (PMID:21983488)
  • calpastatin-calpain balance varied during Th-1,2, and -17 development; overexpression of a domain of calpastatin suppressed production of IL-6 and IL-17 by Th cells and of IL-6 by fibroblasts; suppression of IL-6 occurred by reducing NF-kappaB signaling (PMID:22046434)
  • Neuronal overexpression of calpastatin modulates amyloid precursor protein processing in brains of transgenic beta-amyloid depositing mice. (PMID:22206846)
  • Mycoplasma hyorhinis membrane lipoproteins induce calpastatin upregulation in human cells (PMID:22288381)
  • Calpastatin overexpression reduces calpain-mediated proteolysis and behavioral impairment after traumatic brain injury. (PMID:22572592)
  • The results suggest that calpain-2 and calpastatin expression is important in pancreatic cancers, influencing disease progression (PMID:23140395)
  • Linkage analysis and genetic association support involvement of CAST gene in the genetic susceptibility to keratoconus. (PMID:23449483)
  • HER2 inhibited calpain-1 activity through upregulating calpastatin, an endogenous calpain inhibitor. (PMID:23707532)
  • Calpastatin gene (CAST) is not associated with late onset sporadic Parkinson’s disease in the Han Chinese population. (PMID:23951044)
  • Calpastatin binds with Cav1.2 amino acid motifs in a calcium dependent manner. (PMID:24462690)
  • Loss of CAST in angiogenic ECs facilitates mu-calpain-induced SOCS3 degradation, which amplifies pathological angiogenesis through interleukin-6/STAT3/VEGF-C axis. (PMID:25648699)
  • We describe PLACK syndrome, as a clinical entity of defective epidermal adhesion, caused by loss-of-function mutations in calpastatin. (PMID:25683118)
  • calpains and calpastatin in patients with idiopathic pulmonary arterial hypertension (PAH) and mice with hypoxic or spontaneous (SM22-5HTT(+) strain) PH, were investigated. (PMID:26974350)
  • Kaposi sarcoma-associated herpesvirus reduces CAST (calpastatin) and consequently decreases ATG5 expression in both THP-1 monocytoid cells and primary monocytes. (PMID:27715410)
  • single nucleotide polymorphisms in CAST gene confer risk for keratoconus susceptibility in Han Chinese population (PMID:29428799)
  • Unexpected role of the L-domain of calpastatin during the autoproteolytic activation of human erythrocyte calpain. (PMID:29572388)
  • Low CAST expression is associated with ovarian cancer. (PMID:30448882)

Cross-species orthologs

0 orthologs

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1098236) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 19 distinct phenotype terms.

Mouse phenotype (MP)Records
abnormal myocardial fiber morphology1
abnormal nail morphology1
abnormal gait1
decreased startle reflex1
increased circulating phosphate level1
abnormal heart rate1
abnormal digit morphology1
dilated cardiomyopathy1
increased heart weight1
increased circulating alanine transaminase level1
abnormal heart left ventricle morphology1
decreased heart rate1
decreased heart ventricle muscle contractility1
increased circulating sodium level1
increased susceptibility to neuronal excitotoxicity1
decreased physiological sensitivity to xenobiotic1
abnormal limb position1
decreased fasting circulating glucose level1
decreased heart left ventricle muscle contractility1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

OrganismUniProtIdentityMethod
Chlorocebus aethiopsP4934296.1%Diamond
Sus scrofaP1267577.2%Diamond
Mus musculusP5112576.1%Diamond
Rattus norvegicusP2732175.9%Diamond
Oryctolagus cuniculusP0885575.6%Diamond
Bos taurusP2081173.6%Diamond
Ovis ariesQ9520869.6%Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

SymbolTypeEntrez
ELL2protein-coding22936
MIR583ncRNA693168
PCSK1protein-coding5122
ERAP1protein-coding51752
LINC01554ncRNA202299
ERAP1-AS1ncRNA124901033
RHOBTB3protein-coding22836
GLRXprotein-coding2745
ERAP2protein-coding64167
LNPEPprotein-coding4012

Protein

Non-coding RNA — no protein product.

Function

Gene-set membership (MSigDB)

This non-coding RNA is a member of 377 curated MSigDB gene sets — regulatory-target and signature collections that include it (it has no protein-based pathway / GO / interaction data).

WENDT_COHESIN_TARGETS_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, HSIAO_HOUSEKEEPING_GENES, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, FOXD3_01, VART_KSHV_INFECTION_ANGIOGENIC_MARKERS_UP, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, CDP_01, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_EPITHELIAL_CELL_APOPTOTIC_PROCESS, LI_WILMS_TUMOR_VS_FETAL_KIDNEY_1_UP, WANG_RESPONSE_TO_BEXAROTENE_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_AND_CANCER_BOX2_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_AND_CANCER_BOX5_DN, ATTCTTT_MIR186, GATA1_04, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_EPITHELIAL_CELL_APOPTOTIC_PROCESS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, HNF1_C, TIEN_INTESTINE_PROBIOTICS_24HR_UP, RYTTCCTG_ETS2_B, ELK1_01, P300_01, YY1_01, GATA1_02, CUI_TCF21_TARGETS_2_DN, FOXJ2_02, PIT1_Q6, YIH_RESPONSE_TO_ARSENITE_C2, GTGACTT_MIR224, NAKAMURA_METASTASIS_MODEL_DN, TTTNNANAGCYR_UNKNOWN, CETS1P54_01, TTTGCAC_MIR19A_MIR19B, chr5q15, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, PARENT_MTOR_SIGNALING_UP, TGGAAA_NFAT_Q4_01, YAGI_AML_WITH_11Q23_REARRANGED, GAVIN_FOXP3_TARGETS_CLUSTER_T7, ZHENG_BOUND_BY_FOXP3, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, ZHENG_FOXP3_TARGETS_IN_THYMUS_UP, E2A_Q2, TAKAO_RESPONSE_TO_UVB_RADIATION_DN, GOMF_PEPTIDASE_REGULATOR_ACTIVITY, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, MGGAAGTG_GABP_B, NUYTTEN_NIPP1_TARGETS_DN, ETS_Q4, GOMF_ENZYME_INHIBITOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, GATA_C

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No curated drug or pharmacology associations for this gene.