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Aliases for MKRN2 Gene

Aliases for MKRN2 Gene

  • Makorin Ring Finger Protein 2 2 3 5
  • RING-Type E3 Ubiquitin Transferase Makorin-2 3 4
  • RING Finger Protein 62 3 4
  • RNF62 3 4
  • Probable E3 Ubiquitin-Protein Ligase Makorin-2 3
  • Makorin RING Zinc-Finger Protein 2 3
  • EC 4
  • HSPC070 3

External Ids for MKRN2 Gene

Previous GeneCards Identifiers for MKRN2 Gene

  • GC03P012527
  • GC03P012573
  • GC03P012533
  • GC03P012598

Summaries for MKRN2 Gene

Entrez Gene Summary for MKRN2 Gene

  • 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 orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

GeneCards Summary for MKRN2 Gene

MKRN2 (Makorin Ring Finger Protein 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is MKRN1.

UniProtKB/Swiss-Prot for MKRN2 Gene

  • E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.

Additional gene information for MKRN2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MKRN2 Gene

Genomics for MKRN2 Gene

GeneHancer (GH) Regulatory Elements for MKRN2 Gene

Promoters and enhancers for MKRN2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I012555 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 576.9 +0.5 464 3.3 FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF143 SP3 ZNF610 GLIS1 NBN MKRN2 TAMM41 TSEN2 ENSG00000272263 ENSG00000271716 MKRN2OS GC03P012338
GH03I012646 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 43.8 +91.1 91087 3.4 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B DMAP1 IRF4 ETS1 YY1 MKRN2 RAF1 MKRN2OS CRIP1P1 TAMM41 TSEN2 GC03M012623
GH03I012655 Enhancer 1.3 Ensembl ENCODE dbSUPER 43.8 +101.3 101344 5.1 HDGF PKNOX1 FEZF1 ZNF2 ZNF213 KLF7 ATF7 RUNX3 KLF13 JUNB MKRN2 TSEN2 MKRN2OS RAF1 GC03M012623
GH03I012544 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 30.5 -11.5 -11523 1.3 CTCF PKNOX1 INSM2 SIN3A GATA3 POLR2A ZNF366 SCRT2 ZNF350 PRDM10 MKRN2OS MKRN2 TSEN2 ENSG00000271716 TAMM41 RNU6-377P GC03P012338
GH03I012661 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.4 +106.4 106435 3.5 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF766 RAF1 TAMM41 MKRN2OS MKRN2 TSEN2 GC03M012623
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MKRN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MKRN2 gene promoter:

Genomic Locations for MKRN2 Gene

Genomic Locations for MKRN2 Gene
26,700 bases
Plus strand

Genomic View for MKRN2 Gene

Genes around MKRN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MKRN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MKRN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MKRN2 Gene

Proteins for MKRN2 Gene

  • Protein details for MKRN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Probable E3 ubiquitin-protein ligase makorin-2
    Protein Accession:
    Secondary Accessions:
    • A6NIA2
    • B3KRC5
    • B4DPR4
    • Q8N391
    • Q96BD4
    • Q9BUY2
    • Q9NRY1

    Protein attributes for MKRN2 Gene

    416 amino acids
    Molecular mass:
    46940 Da
    Quaternary structure:
    No Data Available
    • Partially overlaps and is antisense to the RAF1 proto-oncogene.

    Alternative splice isoforms for MKRN2 Gene


neXtProt entry for MKRN2 Gene

Post-translational modifications for MKRN2 Gene

  • Ubiquitination at isoforms=42 and Lys334
  • Modification sites at PhosphoSitePlus

Other Protein References for MKRN2 Gene

No data available for DME Specific Peptides for MKRN2 Gene

Domains & Families for MKRN2 Gene

Gene Families for MKRN2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MKRN2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MKRN2: view

No data available for UniProtKB/Swiss-Prot for MKRN2 Gene

Function for MKRN2 Gene

Molecular function for MKRN2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins.

Enzyme Numbers (IUBMB) for MKRN2 Gene

Phenotypes From GWAS Catalog for MKRN2 Gene

Gene Ontology (GO) - Molecular Function for MKRN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005515 protein binding IPI 17500595
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MKRN2: view
genes like me logo Genes that share phenotypes with MKRN2: view

Animal Models for MKRN2 Gene

MGI Knock Outs for MKRN2:

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MKRN2 Gene

Localization for MKRN2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MKRN2 gene
Compartment Confidence
nucleus 4
cytosol 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MKRN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 11597136
genes like me logo Genes that share ontologies with MKRN2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MKRN2 Gene

Pathways & Interactions for MKRN2 Gene

SuperPathways for MKRN2 Gene

No Data Available

UniProtKB/Swiss-Prot Q9H000-MKRN2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MKRN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with MKRN2: view

No data available for Pathways by source and SIGNOR curated interactions for MKRN2 Gene

Drugs & Compounds for MKRN2 Gene

No Compound Related Data Available

Transcripts for MKRN2 Gene

Unigene Clusters for MKRN2 Gene

Makorin ring finger protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MKRN2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: -
SP3: - - - -
SP4: - -

Relevant External Links for MKRN2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MKRN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MKRN2 Gene

Protein differential expression in normal tissues from HIPED for MKRN2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.7), Fetal Brain (10.2), and Pancreas (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MKRN2 Gene

Protein tissue co-expression partners for MKRN2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MKRN2 Gene:


SOURCE GeneReport for Unigene cluster for MKRN2 Gene:


mRNA Expression by UniProt/SwissProt for MKRN2 Gene:

Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for MKRN2 Gene

  • Nervous system(4.8)
  • Blood(4.3)
  • Liver(4.3)
  • Eye(4.2)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with MKRN2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MKRN2 Gene

Orthologs for MKRN2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MKRN2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MKRN2 33 34
  • 99.2 (n)
(Canis familiaris)
Mammalia MKRN2 33 34
  • 90.38 (n)
(Rattus norvegicus)
Mammalia Mkrn2 33
  • 85.82 (n)
(Mus musculus)
Mammalia Mkrn2 33 16 34
  • 85.1 (n)
(Bos Taurus)
Mammalia MKRN2 33 34
  • 85.06 (n)
(Monodelphis domestica)
Mammalia MKRN2 34
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia MKRN2 34
  • 57 (a)
(Gallus gallus)
Aves MKRN2 33 34
  • 73.41 (n)
(Anolis carolinensis)
Reptilia MKRN2 34
  • 73 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16155 33
(Danio rerio)
Actinopterygii mkrn2 33 34
  • 62.18 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2238 33
fruit fly
(Drosophila melanogaster)
Insecta CG12477 35 34
  • 45 (a)
CG5334 35 34
  • 42 (a)
CG5347 35 34
  • 37 (a)
Mkrn1 35 34
  • 33 (a)
(Caenorhabditis elegans)
Secernentea Y55F3AM.6 34
  • 31 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LEE1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08505 33
  • 49.47 (n)
(Oryza sativa)
Liliopsida Os06g0318700 33
  • 49.14 (n)
Species where no ortholog for MKRN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for MKRN2 Gene

Gene Tree for MKRN2 (if available)
Gene Tree for MKRN2 (if available)

Paralogs for MKRN2 Gene

Paralogs for MKRN2 Gene

(3) SIMAP similar genes for MKRN2 Gene using alignment to 3 proteins: Pseudogenes for MKRN2 Gene

genes like me logo Genes that share paralogs with MKRN2: view

Variants for MKRN2 Gene

Sequence variations from dbSNP and Humsavar for MKRN2 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs12808 uncertain-significance, Noonan syndrome, Noonan syndrome with multiple lentigines 12,584,019(+) G/A downstream_transcript_variant
rs187286358 uncertain-significance, Noonan syndrome, Noonan syndrome with multiple lentigines 12,583,958(+) C/T downstream_transcript_variant
rs371820097 uncertain-significance, Noonan syndrome, Noonan syndrome with multiple lentigines 12,583,766(+) TGTTTGTTTGTTTGTTTGTT/TGTTTGTTTGTT/TGTTTGTTTGTTTGTT/TGTTTGTTTGTTTGTTTGTTTGTT downstream_transcript_variant
rs556460176 uncertain-significance, Noonan syndrome with multiple lentigines, Noonan syndrome 12,583,908(+) T/C downstream_transcript_variant
rs5746247 likely-benign, Noonan syndrome, Noonan syndrome with multiple lentigines 12,584,166(+) A/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for MKRN2 Gene

Variant ID Type Subtype PubMed ID
dgv597n27 CNV gain 19166990
dgv763e201 CNV deletion 23290073
dgv8227n54 CNV gain 21841781
dgv850e199 CNV deletion 23128226
esv2751977 CNV gain 17911159
esv3575548 CNV gain 25503493
nsv1000995 CNV gain 25217958
nsv1112379 CNV deletion 24896259
nsv1147269 CNV deletion 26484159
nsv512796 CNV insertion 21212237
nsv7351 OTHER inversion 18451855

Variation tolerance for MKRN2 Gene

Residual Variation Intolerance Score: 39.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MKRN2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MKRN2 Gene

Disorders for MKRN2 Gene

Additional Disease Information for MKRN2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MKRN2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MKRN2 Gene

Publications for MKRN2 Gene

  1. Phylogenetic conservation of the makorin-2 gene, encoding a multiple zinc-finger protein, antisense to the RAF1 proto-oncogene. (PMID: 11597136) Gray TA … Nicholls RD (Genomics 2001) 2 3 4 22 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MKRN2 Gene

Sources for MKRN2 Gene

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