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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 2.3.2.27 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. GO annotations related to this gene include poly(A) RNA binding and 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

Regulatory Elements for MKRN2 Gene

Enhancers for MKRN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H012646 1.9 FANTOM5 Ensembl ENCODE dbSUPER 43.8 +91.1 91087 3 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 ZNF143 ZNF207 MKRN2 RAF1 MKRN2OS CRIP1P1 TAMM41 TSEN2 GC03M012623
GH03H012655 1.5 Ensembl ENCODE dbSUPER 43.8 +101.3 101344 5 HDGF PKNOX1 FEZF1 ZNF2 KLF7 ATF7 RUNX3 JUNB TSHZ1 REST MKRN2 MKRN2OS TSEN2 RAF1 GC03M012623
GH03H012679 1.1 Ensembl ENCODE 38.1 +122.8 122803 1 GTF2F1 TBP TFAP4 JUN RAD21 RFX5 ZNF121 CTBP1 SMC3 RCOR1 MKRN2 TSEN2 RAF1 CRIP1P1 TMEM40
GH03H012544 1.1 Ensembl ENCODE 30.5 -11.5 -11523 1 PKNOX1 INSM2 SIN3A GATA3 POLR2A ZNF366 SCRT2 ZNF350 PRDM10 ATF7 MKRN2 TSEN2 ENSG00000271716 TAMM41 RNU6-377P
GH03H012627 1.3 Ensembl ENCODE dbSUPER 25.2 +72.6 72587 3 PKNOX1 KLF1 INSM2 MAX CEBPG YY1 ZNF121 ZNF366 ZNF600 RCOR1 MKRN2 MKRN2OS GC03M012623 RAF1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MKRN2 on UCSC Golden Path with GeneCards custom track

Promoters for MKRN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000148662 186 2401 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1

Genomic Location for MKRN2 Gene

Chromosome:
3
Start:
12,557,014 bp from pter
End:
12,583,713 bp from pter
Size:
26,700 bases
Orientation:
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:
    Q9H000-MKRN2_HUMAN
    Recommended name:
    Probable E3 ubiquitin-protein ligase makorin-2
    Protein Accession:
    Q9H000
    Secondary Accessions:
    • A6NIA2
    • B3KRC5
    • B4DPR4
    • Q8N391
    • Q96BD4
    • Q9BUY2
    • Q9NRY1

    Protein attributes for MKRN2 Gene

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

    Alternative splice isoforms for MKRN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MKRN2 Gene

Post-translational modifications for MKRN2 Gene

  • Ubiquitination at Lys42 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

HGNC:
Human Protein Atlas (HPA):
  • 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 IDA 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MKRN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for MKRN2 Gene

Subcellular locations from

COMPARTMENTS
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MKRN2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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: -
SP2:
SP3: - - - -
SP4: - -

Relevant External Links for MKRN2 Gene

GeneLoc Exon Structure for
MKRN2
ECgene alternative splicing isoforms for
MKRN2

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:

MKRN2

SOURCE GeneReport for Unigene cluster for MKRN2 Gene:

Hs.591666

mRNA Expression by UniProt/SwissProt for MKRN2 Gene:

Q9H000-MKRN2_HUMAN
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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia MKRN2 33 34
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia MKRN2 33 34
  • 90.38 (n)
rat
(Rattus norvegicus)
Mammalia Mkrn2 33
  • 85.82 (n)
mouse
(Mus musculus)
Mammalia Mkrn2 33 16 34
  • 85.1 (n)
cow
(Bos Taurus)
Mammalia MKRN2 33 34
  • 85.06 (n)
oppossum
(Monodelphis domestica)
Mammalia MKRN2 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MKRN2 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves MKRN2 33 34
  • 73.41 (n)
lizard
(Anolis carolinensis)
Reptilia MKRN2 34
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16155 33
zebrafish
(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)
worm
(Caenorhabditis elegans)
Secernentea Y55F3AM.6 34
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LEE1 36
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G08505 33
  • 49.47 (n)
rice
(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

ENSEMBL:
Gene Tree for MKRN2 (if available)
TreeFam:
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.org 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 Sequence Context AA Info Type
rs5746247 Likely benign 12,584,166(-) TAAGG(C/T)AGCAG nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs12808 Uncertain significance 12,584,019(-) ACTGC(C/T)GAGAC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs187286358 Uncertain significance 12,583,958(+) GAGGA(C/T)GTGTC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs556460176 Uncertain significance 12,583,908(+) TTGCC(C/T)GGAAA nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime
rs757070081 Uncertain significance 12,583,769(+) AAGGC(-/TGTT)TGTTT nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

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)

Relevant External Links for MKRN2 Gene

Human Gene Mutation Database (HGMD)
MKRN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MKRN2

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

Disorders for MKRN2 Gene

Relevant External Links for MKRN2

Genetic Association Database (GAD)
MKRN2
Human Genome Epidemiology (HuGE) Navigator
MKRN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MKRN2

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 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60
  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 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for MKRN2 Gene

Sources for MKRN2 Gene

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