Gene Gene information from NCBI Gene database.
Entrez ID 5598
Gene name Mitogen-activated protein kinase 7
Gene symbol MAPK7
Synonyms (NCBI Gene)
BMK1ERK4ERK5PRKM7
Chromosome 17
Chromosome location 17p11.2
Summary The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs147296805 G>A,T Pathogenic Missense variant, coding sequence variant
rs758163506 C>T Pathogenic Coding sequence variant, missense variant
rs1555613564 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
49
miRTarBase ID miRNA Experiments Reference
MIRT003759 hsa-miR-143-3p Western blot 19464056
MIRT003759 hsa-miR-143-3p Luciferase reporter assay 19464056
MIRT003759 hsa-miR-143-3p Luciferase reporter assayWestern blot 19855844
MIRT003759 hsa-miR-143-3p Luciferase reporter assay 19464056
MIRT003759 hsa-miR-143-3p Review 20144549
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
MEF2A Activation 18073218
MEF2C Activation 11158308
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade ISS
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IBA
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602521 6880 ENSG00000166484
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13164
Protein name Mitogen-activated protein kinase 7 (MAP kinase 7) (MAPK 7) (EC 2.7.11.24) (Big MAP kinase 1) (BMK-1) (Extracellular signal-regulated kinase 5) (ERK-5)
Protein function Plays a role in various cellular processes such as proliferation, differentiation and cell survival. The upstream activator of MAPK7 is the MAPK kinase MAP2K5. Upon activation, it translocates to the nucleus and phosphorylates various downstream
PDB 2Q8Y , 4B99 , 4IC7 , 4IC8 , 4ZSG , 4ZSJ , 4ZSL , 5BYY , 5BYZ , 5O7I , 6HKM , 6HKN , 7PUS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 55 347 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in many adult tissues. Abundant in heart, placenta, lung, kidney and skeletal muscle. Not detectable in liver. {ECO:0000269|PubMed:7759517}.
Sequence
MAEPLKEEDGEDGSAEPPGPVKAEPAHTAASVAAKNLALLKARSFDVTFDVGDEYEIIET
IGNGAYGVVSSARRRLTGQQVAIKKIPNAFDVVTNAKRTLRELKILKHFKHDNIIAIKDI
LRPTVPYGEFKSVYVVLDLMESDLHQIIHSSQPLTLEHVRYFLYQLLRGLKYMHSAQVIH
RDLKPSNLLVNENCELKIGDFGMARGLCTSPAEHQYFMTEYVATRWYRAPELMLSLHEYT
QAIDLWSVGCIFGEMLARRQLFPGKNYVHQLQLIMMVLGTPSPAVIQAVGAERVRAYIQS
LPPRQPVPWETVYPGADRQALSLLGRMLRFEPSARISAAAALRHPFL
AKYHDPDDEPDCA
PPFDFAFDREALTRERIKEAIVAEIEDFHARREGIRQQIRFQPSLQPVASEPGCPDVEMP
SPWAPSGDCAMESPPPAPPPCPGPAPDTIDLTLQPPPPVSEPAPPKKDGAISDNTKAALK
AALLKSLRSRLRDGPSAPLEAPEPRKPVTAQERQREREEKRRRRQERAKEREKRRQERER
KERGAGASGGPSTDPLAGLVLSDNDRSLLERWTRMARPAAPALTSVPAPAPAPTPTPTPV
QPTSPPPGPVAQPTGPQPQSAGSTSGPVPQPACPPPGPAPHPTGPPGPIPVPAPPQIATS
TSLLAAQSLVPPPGLPGSSTPGVLPYFPPGLPPPDAGGAPQSSMSESPDVNLVTQQLSKS
QVEDPLPPVFSGTPKGSGAGYGVGFDLEEFLNQSFDMGVADGPQDGQADSASLSASLLAD
WLEGHGMNPADIESLQREIQMDSPMLLADLPDLQDP
Sequence length 816
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Gap junction
IL-17 signaling pathway
Neurotrophin signaling pathway
GnRH signaling pathway
Oxytocin signaling pathway
MicroRNAs in cancer
Fluid shear stress and atherosclerosis
  ERK/MAPK targets
Signalling to ERK5
ERKs are inactivated
Senescence-Associated Secretory Phenotype (SASP)
Gastrin-CREB signalling pathway via PKC and MAPK
RET signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Scoliosis, isolated, susceptibility to, 1 Pathogenic rs147296805, rs758163506, rs1555613564 RCV000656381
RCV000656382
RCV000656383
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERALGESIA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 27922189
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 25855966
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 26739108
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 17148583
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 15994942
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 30636644
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 28714182
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 29465556
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 23043106, 23243209
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 23043106, 23243209
★☆☆☆☆
Found in Text Mining only