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  Domain Name: STKc_p38
Catalytic domain of the Serine/Threonine Kinase, p38 Mitogen-Activated Protein Kinase. Serine/Threonine Kinases (STKs), p38 subfamily, catalytic (c) domain. STKs catalyze the transfer of the gamma-phosphoryl group from ATP to serine/threonine residues on protein substrates. The p38 subfamily is part of a larger superfamily that includes the catalytic domains of other protein STKs, protein tyrosine kinases, RIO kinases, aminoglycoside phosphotransferase, choline kinase, and phosphoinositide 3-kinase. p38 kinases are mitogen-activated protein kinases (MAPKs), serving as important mediators of cellular responses to extracellular signals. They function in the regulation of the cell cycle, cell development, cell differentiation, senescence, tumorigenesis, apoptosis, pain development and pain progression, and immune responses. p38 kinases are activated by the MAPK kinases MKK3 and MKK6, which in turn are activated by upstream MAPK kinase kinases including TAK1, ASK1, and MLK3, in response to cellular stresses or inflammatory cytokines. p38 substrates include other protein kinases and factors that regulate transcription, nuclear export, mRNA stability and translation. p38 kinases are drug targets for the inflammatory diseases psoriasis, rheumatoid arthritis, and chronic pulmonary disease. Vertebrates contain four isoforms of p38, named alpha, beta, gamma, and delta, which show varying substrate specificity and expression patterns. p38alpha and p38beta are ubiquitously expressed, p38gamma is predominantly found in skeletal muscle, and p38delta is found in the heart, lung, testis, pancreas, and small intestine.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 802
Total Disease Mutations Found: 346
This domain occurred 379 times on human genes (870 proteins).



  ADENOCARCINOMA OF LUNG, RESPONSE TO TYROS
  ADENOCARCINOMA OF LUNG, SOMATIC
  ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
  AMYOTROPHIC LATERAL SCLEROSIS 19
  AORTIC ANEURYSM, FAMILIAL THORACIC 7
  BLADDER CANCER, SOMATIC, INCLUDED
  BRACHYDACTYLY, TYPE A2
  BREAST CANCER, SUSCEPTIBILITY TO
  CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME
  CARDIOFACIOCUTANEOUS SYNDROME 1
  CARDIOFACIOCUTANEOUS SYNDROME 3
  CARDIOFACIOCUTANEOUS SYNDROME 4
  CATARACT 6, AGE-RELATED CORTICAL
  CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE
  CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB
  COFFIN-LOWRY SYNDROME
  COLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, SOMATIC, INCLUDED
  COLON CANCER, SOMATIC
  COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
  COLORECTAL CANCER, SOMATIC
  COLORECTAL CANCER, SOMATIC, INCLUDED;;
  COWDEN DISEASE 6
  CROUZON SYNDROME
  DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  DIABETES MELLITUS, TYPE II
  ENDOCRINE-CEREBROOSTEODYSPLASIA
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 (EIEE2)
  ESOPHAGEAL CANCER, SOMATIC
  FG SYNDROME 4
  FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
  GASTRIC CANCER, SOMATIC
  GLIOBLASTOMA, SOMATIC
  GLYCOGEN STORAGE DISEASE IXC
  HARTSFIELD SYNDROME
  HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC
  HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5
  HYPOCHONDROPLASIA
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH ANOSMIA, SUSCEPTIBILITY TO
  HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY
  HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA
  HYPOGONADOTROPIC HYPOGONADISM 2 WITHOUT ANOSMIA, SUSCEPTIBILITY TO
  IN
  INSULIN RESISTANCE
  INSULIN RESISTANCE, INCLUDED
  IRAK4 DEFICIENCY
  JUVENILE POLYPOSIS SYNDROME
  LADD SYNDROME
  LEUKEMIA, PHILADELPHIA CHROMOSOME-POSITIVE, RESISTANT TO IMATINIB
  LOEYS-DIETZ SYNDROME, TYPE 1B
  LOEYS-DIETZ SYNDROME, TYPE 1B, INCLUDED
  LOEYS-DIETZ SYNDROME, TYPE 2B
  LYMPHEDEMA, HEREDITARY, I
  LYMPHEDEMA, HEREDITARY, IA
  LYMPHOMA, NON-HODGKIN, SOMATIC
  MALFORMATIONS
  MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME
  MELANOMA, MALIGNANT, SOMATIC
  MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
  MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (MICPCH)
  MENTAL RETARDATION, X-LINKED 30
  MENTAL RETARDATION, X-LINKED, WITH NYSTAGMUS
  MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
  MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
  MULTIPLE MYELOMA, SOMATIC, INCLUDED;;
  NEPHRONOPHTHISIS 9 (NPHP9)
  NEUROPATHY, HEREDITARY SENSORY, TYPE II
  NONSMALL CELL LUNG CANCER, RESISTANCE TO TYROSINE KINASE INHIBITOR
  NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,
  NOONAN SYNDROME 7
  OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY
  OGUCHI DISEASE 2
  OVARIAN CANCER, SOMATIC
  PANCREATIC CANCER, SOMATIC
  PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
  PEUTZ-JEGHERS SYNDROME
  PFEIFFER SYNDROME
  PHEOCHROMOCYTOMA, INCLUDED
  PHEOCHROMOCYTOMA, SOMATIC, IN
  PROSTATE CANCER, PROGRESSION AND METASTASIS OF
  PULMONARY HYPERTENSION, PRIMARY, 1
  PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA
  PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED
  PULMONARY VENOOCCLUSIVE DISEASE
  RENAL AGENESIS
  RETINITIS PIGMENTOSA 38
  RETINITIS PIGMENTOSA 62
  RETINITIS PIGMENTOSA 62 (RP62)
  SADDAN DYSPLASIA
  SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, INCLUDED
  SHORT RIB-POLYDACTYLY SYNDROME 2A (SRPS2A)
  SHORT RIB-POLYDACTYLY SYNDROME, TYPE IIA
  SOMATIC
  SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED
  SPERMATOGENIC FAILURE 5
  SPINOCEREBELLAR ATAXIA 14
  SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
  T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AUTOIMMUNITY, AND CARDIAC
  TESTICULAR TUMOR, SOMATIC
  THANATOPHORIC DYSPLASIA, TYPE I
  THANATOPHORIC DYSPLASIA, TYPE I, INCLUDED
  THANATOPHORIC DYSPLASIA, TYPE II
  THROMBOCYTOPENIA 2
  THYROID CARCINOMA, FAMILIAL MEDULLARY
  THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
  THYROID CARCINOMA, FOLLICULAR, SOMATIC, INCLUDED
  THYROID CARCINOMA, PAPILLARY, SOMATIC, INCLUDED;;|
  THYROID CARCINOMA, SPORADIC MEDULLARY, INCLUDED;;
  TO
  VARIANT OF UNKNOWN SIGNIFICANCE
  VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL


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