Gene Gene information from NCBI Gene database.
Entrez ID 11183
Gene name Mitogen-activated protein kinase kinase kinase kinase 5
Gene symbol MAP4K5
Synonyms (NCBI Gene)
GCKRKHSKHS1MAPKKKK5
Chromosome 14
Chromosome location 14q22.1
Summary This gene encodes a member of the serine/threonine protein kinase family, that is highly similar to yeast SPS1/STE20 kinase. Yeast SPS1/STE20 functions near the beginning of the MAP kinase signal cascades that is essential for yeast pheromone response. Th
miRNA miRNA information provided by mirtarbase database.
210
miRTarBase ID miRNA Experiments Reference
MIRT536157 hsa-miR-548n PAR-CLIP 22012620
MIRT536156 hsa-miR-548az-5p PAR-CLIP 22012620
MIRT536155 hsa-miR-548t-5p PAR-CLIP 22012620
MIRT536154 hsa-miR-548at-5p PAR-CLIP 22012620
MIRT536153 hsa-miR-4667-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade IEA
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity TAS 9038372
GO:0004674 Function Protein serine/threonine kinase activity IDA 9038372
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604923 6867 ENSG00000012983
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y4K4
Protein name Mitogen-activated protein kinase kinase kinase kinase 5 (EC 2.7.11.1) (Kinase homologous to SPS1/STE20) (KHS) (MAPK/ERK kinase kinase kinase 5) (MEK kinase kinase 5) (MEKKK 5)
Protein function May play a role in the response to environmental stress. Appears to act upstream of the JUN N-terminal pathway.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 20 277 Protein kinase domain Domain
PF00780 CNH 516 816 CNH domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in all tissues examined, with high levels in the ovary, testis and prostate. {ECO:0000269|PubMed:9038372}.
Sequence
MEAPLRPAADILRRNPQQDYELVQRVGSGTYGDVYKARNVHTGELAAVKIIKLEPGDDFS
LIQQEIFMVKECKHCNIVAYFGSYLSREKLWICMEYCGGGSLQDIYHVTGPLSELQIAYV
CRETLQGLAYLHTKGKMHRDIKGANILLTDHGDVKLADFGVAAKITATIAKRKSFIGTPY
WMAPEVAAVEKNGGYNQLCDIWAVGITAIELGELQPPMFDLHPMRALFLMSKSNFQPPKL
KDKTKWSSTFHNFVKIALTKNPKKRPTAERLLTHTFV
AQPGLSRALAVELLDKVNNPDNH
AHYTEADDDDFEPHAIIRHTIRSTNRNARAERTASEINFDKLQFEPPLRKETEARDEMGL
SSDPNFMLQWNPFVDGANTGKSTSKRAIPPPLPPKPRISSYPEDNFPDEEKASTIKHCPD
SESRAPQILRRQSSPSCGPVAETSSIGNGDGISKLMSENTEGSAQAPQLPRKKDKRDFPK
PAINGLPPTPKVLMGACFSKVFDGCPLKINCATSWIHPDTKDQYIIFGTEDGIYTLNLNE
LHEATMEQLFPRKCTWLYVINNTLMSLSVGKTFQLYSHNLIALFEHAKKPGLAAHIQTHR
FPDRILPRKFALTTKIPDTKGCHKCCIVRNPYTGHKYLCGALQSGIVLLQWYEPMQKFML
IKHFDFPLPSPLNVFEMLVIPEQEYPMVCVAISKGTESNQVVQFETINLNSASSWFTEIG
AGSQQLDSIHVTQLERDTVLVCLDKFVKIVNLQGKLKSSKKLASELSFDFRIESVVCLQD
SVLAFWKHGMQGKSFKSDEVTQEISDETRVFRLLGS
DRVVVLESRPTENPTAHSNLYILA
GHENSY
Sequence length 846
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
ASTROCYTOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT Disgenet
★★☆☆☆
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
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 23482931
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis GWASCAT_DG 26974007
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27023625
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 26433129
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 20884846, 21768215, 23263486
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASCAT_DG 25646370, 27899376, 31578528
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis BEFREE 26290326
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 26433129
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 27790247
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28446149 Associate
★☆☆☆☆
Found in Text Mining only