Gene Gene information from NCBI Gene database.
Entrez ID 23609
Gene name Makorin ring finger protein 2
Gene symbol MKRN2
Synonyms (NCBI Gene)
HSPC070RNF62
Chromosome 3
Chromosome location 3p25.2
Summary This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense o
miRNA miRNA information provided by mirtarbase database.
215
miRTarBase ID miRNA Experiments Reference
MIRT020253 hsa-miR-130b-3p Sequencing 20371350
MIRT032377 hsa-let-7b-5p Proteomics 18668040
MIRT049766 hsa-miR-92a-3p CLASH 23622248
MIRT042305 hsa-miR-484 CLASH 23622248
MIRT448166 hsa-miR-3925-5p PAR-CLIP 22100165
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0002862 Process Negative regulation of inflammatory response to antigenic stimulus IEA
GO:0002862 Process Negative regulation of inflammatory response to antigenic stimulus ISS
GO:0003723 Function RNA binding HDA 22681889
GO:0005515 Function Protein binding IPI 17500595, 22046132, 25416956, 32296183, 32814053, 32838362, 36217029
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608426 7113 ENSG00000075975
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H000
Protein name E3 ubiquitin-protein ligase makorin-2 (EC 2.3.2.27) (RING finger protein 62) (RING-type E3 ubiquitin transferase makorin-2)
Protein function E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (By similarity). Promotes the polyubiquitination and proteasome-dependent degradation of RELA/p65, thereby suppressing RELA-mediated NF-kappaB t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18044 zf-CCCH_4 6 27 CCCH-type zinc finger Domain
PF00642 zf-CCCH 33 57 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
PF00642 zf-CCCH 167 191 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
PF00097 zf-C3HC4 238 291 Zinc finger, C3HC4 type (RING finger) Domain
PF14608 zf-CCCH_2 326 348 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in sperm, with significantly reduced expression in sperm of patients with oligoasthenoteratozoospermia (at protein level) (PubMed:28008940). Widely expressed with expression in testis, ovary, small intestine, colon, periphera
Sequence
MSTKQITCRYFMHGVCREGSQCLFSHDLANSKPSTICKYYQKGYCAYGTRCRYDHTRPSA
AAGGAVGTMAHSVPSPAFHSPHPPSEVTASIVKTNSHEPGKREKRTLVLRDRNLSGMAER
KTQPSMVSNPGSCSDPQPSPEMKPHSYLDAIRSGLDDVEASSSYSNEQQLCPYAAAGECR
FGDACVYLHGE
VCEICRLQVLHPFDPEQRKAHEKICMLTFEHEMEKAFAFQASQDKVCSI
CMEVILEKASASERRFGILSNCNHTYCLSCIRQWRCAKQFENPIIKSCPEC
RVISEFVIP
SVYWVEDQNKKNELIEAFKQGMGKKACKYFEQGKGTCPFGSKCLYRHAYPDGRLAEPEKP
RKQLSSQGTVRFFNSVRLWDFIENRESRHVPNNEDVDMTELGDLFMHLSGVESSEP
Sequence length 416
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
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEOPARD SYNDROME 2 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NOONAN SYNDROME 5 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
Carcinogenesis Carcinogenesis Pubtator 30103781 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36938725 Inhibit
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37218161 Inhibit
★☆☆☆☆
Found in Text Mining only
Hypospadias Hypospadias Pubtator 32728162 Associate
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 24675897
★☆☆☆☆
Found in Text Mining only
Leukemia Leukemia Pubtator 24675897 Associate
★☆☆☆☆
Found in Text Mining only
Lung Diseases Lung disease Pubtator 22795057 Associate
★☆☆☆☆
Found in Text Mining only
Lymphatic Metastasis Lymphatic metastasis Pubtator 30103781 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 31814304
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 35196650 Inhibit
★☆☆☆☆
Found in Text Mining only