MAPK1 (mitogen-activated protein kinase 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 5594
Gene name Mitogen-activated protein kinase 1
Gene symbol MAPK1
Synonyms (NCBI Gene)
ERKERK-2ERK2ERT1MAPK2NS13P42MAPKPRKM1PRKM2p38p40p41p41mapkp42-MAPK
Chromosome 22
Chromosome location 22q11.22
Summary This gene encodes a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as p
SNPs SNP information provided by dbSNP.
2
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs797044892 C>G Pathogenic Missense variant, coding sequence variant
rs1057519911 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
2128
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (2128)
miRTarBase ID miRNA Experiments Reference
MIRT003983 hsa-miR-199a-3p Western blot 18456660
MIRT003983 hsa-miR-199a-3p Luciferase reporter assay 18456660
MIRT006418 hsa-miR-28-5p Luciferase reporter assay 20445018
MIRT006447 hsa-miR-335-5p ImmunofluorescenceImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22382496
MIRT006447 hsa-miR-335-5p ImmunofluorescenceImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot 22382496
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (3)
Transcription factor Regulation Reference
MYC Unknown 21933022
SPI1 Repression 22075620
TWIST1 Activation 23222305
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
145
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (145)
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IDA 15850461, 24854121
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0001784 Function Phosphotyrosine residue binding IEA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
176948 6871 ENSG00000100030
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28482
Protein name Mitogen-activated protein kinase 1 (MAP kinase 1) (MAPK 1) (EC 2.7.11.24) (ERT1) (Extracellular signal-regulated kinase 2) (ERK-2) (MAP kinase isoform p42) (p42-MAPK) (Mitogen-activated protein kinase 2) (MAP kinase 2) (MAPK 2)
Protein function Serine/threonine kinase which acts as an essential component of the MAP kinase signal transduction pathway. MAPK1/ERK2 and MAPK3/ERK1 are the 2 MAPKs which play an important role in the MAPK/ERK cascade. They participate also in a signaling casc
PDB 1PME , 1TVO , 1WZY , 2OJG , 2OJI , 2OJJ , 2Y9Q , 3D42 , 3D44 , 3I5Z , 3I60 , 3SA0 , 3TEI , 3W55 , 4FMQ , 4FUX , 4FUY , 4FV0 , 4FV1 , 4FV2 , 4FV3 , 4FV4 , 4FV5 , 4FV6 , 4FV7 , 4FV8 , 4FV9 , 4G6N , 4G6O , 4H3P , 4H3Q , 4IZ5 , 4IZ7 , 4IZA , 4N0S , 4NIF , 4O6E , 4QP1 , 4QP2 , 4QP3 , 4QP4 , 4QP6 , 4QP7 , 4QP8 , 4QP9 , 4QPA , 4QTA , 4QTE , 4XJ0 , 4ZXT , 4ZZM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 25 → 313 Protein kinase domain Domain
Sequence
Sequence length 360
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
50
Gene SNPs Transcription factors Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (8)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal facial shape Pathogenic; Likely pathogenic rs2068716907, rs2068716940, rs2069052012 RCV001261417
RCV001261416
RCV001261415
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atypical behavior Pathogenic; Likely pathogenic rs2068716907, rs2068716940, rs2069052012 RCV001261417
RCV001261416
RCV001261415
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of Pathogenic; Likely pathogenic rs2068716907, rs2068716940, rs2069052012 RCV001261417
RCV001261416
RCV001261415
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Pathogenic; Likely pathogenic rs2068716907, rs2068716940 RCV001261417
RCV001261416
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (42)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANHEDONIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILE DUCT CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (990)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acanthosis Nigricans Acanthosis Nigricans BEFREE 22585574
★★★★★
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia BEFREE 20922792
★★★★★
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 21178801
★★★★★
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis LHGDN 17686614
★★★★★
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 29298652
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 20445019
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 17726105
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 23888996, 24083449
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 29208365
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 10222145
★★★★★
★☆☆☆☆
Found in Text Mining only