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Aliases for RNF112 Gene

Aliases for RNF112 Gene

  • Ring Finger Protein 112 2 3 5
  • Zinc Finger Protein 179 2 3 4
  • Brain Finger Protein 3 4
  • Neurolastin 2 3
  • ZNF179 3 4
  • BFP 3 4
  • RING Finger Protein 112 3
  • EC 2.3.2.27 4

External Ids for RNF112 Gene

Previous HGNC Symbols for RNF112 Gene

  • ZNF179

Previous GeneCards Identifiers for RNF112 Gene

  • GC17P019257
  • GC17P018694
  • GC17P019314

Summaries for RNF112 Gene

Entrez Gene Summary for RNF112 Gene

  • This gene encodes a member of the RING finger protein family of transcription factors. The protein is primarily expressed in brain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

GeneCards Summary for RNF112 Gene

RNF112 (Ring Finger Protein 112) is a Protein Coding gene. Diseases associated with RNF112 include Smith-Magenis Syndrome. Gene Ontology (GO) annotations related to this gene include GTP binding and GTPase activity. An important paralog of this gene is ATL3.

UniProtKB/Swiss-Prot for RNF112 Gene

  • E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins (PubMed:28684796). Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density (By similarity).

Additional gene information for RNF112 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF112 Gene

Genomics for RNF112 Gene

GeneHancer (GH) Regulatory Elements for RNF112 Gene

Promoters and enhancers for RNF112 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J019382 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 650.3 -24.4 -24430 6.9 SIN3A ZNF766 GLIS2 FOS YY2 REST ZNF662 NFIL3 ATF4 ZNF184 MFAP4 RNF112 ENSG00000264885 FOXO3B ZNF286B EPN2 AKAP10 CCDC144B MAPK7 ENSG00000273018
GH17J019410 Promoter/Enhancer 1 EPDnew Ensembl 650.7 +0.6 586 1.2 CTCF RFX1 POLR2A CHD2 RNF112 ENSG00000265126 ENSG00000235979
GH17J019409 Enhancer 0.5 ENCODE 650.7 -1.1 -1087 0.2 ZFHX2 EGR1 FOS EGR2 RNF112 MFAP4
GH17J019645 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 14.9 +238.4 238371 7.8 ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ZNF610 ALDH3A2 ENSG00000264932 PIR59862 ENSG00000275982 ENSG00000231477 ZNF286B MAPK7 RNF112 LINC01984 ENSG00000267075
GH17J019061 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 14.8 -347.8 -347789 3.6 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SNORD3B-2 SNORD3B-1 GC17P019069 FOXO3B DRG2 MAPK7 ENSG00000264885 SMCR8 ENSG00000262202 RNF112
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RNF112 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RNF112 gene promoter:
  • Tal-1beta
  • ITF-2
  • SRF (504 AA)
  • SRF
  • Meis-1
  • HOXA9
  • HOXA9B
  • Meis-1b
  • Bach2
  • AhR

Genomic Locations for RNF112 Gene

Genomic Locations for RNF112 Gene
chr17:19,410,790-19,417,276
(GRCh38/hg38)
Size:
6,487 bases
Orientation:
Plus strand
chr17:19,314,438-19,320,589
(GRCh37/hg19)
Size:
6,152 bases
Orientation:
Plus strand

Genomic View for RNF112 Gene

Genes around RNF112 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF112 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF112 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF112 Gene

Proteins for RNF112 Gene

  • Protein details for RNF112 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULX5-RN112_HUMAN
    Recommended name:
    RING finger protein 112
    Protein Accession:
    Q9ULX5
    Secondary Accessions:
    • O60633
    • Q7Z5V9

    Protein attributes for RNF112 Gene

    Size:
    631 amino acids
    Molecular mass:
    68298 Da
    Quaternary structure:
    • Self-associates. Interacts with SP1 in an oxidative stress-regulated manner. Interacts with SIGMAR1 in an oxidative stress-regulated manner. Interacts with ZBTB16 (via C2H2-type zinc finger domains 1 and 2).

    Alternative splice isoforms for RNF112 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF112 Gene

Post-translational modifications for RNF112 Gene

Other Protein References for RNF112 Gene

No data available for DME Specific Peptides for RNF112 Gene

Domains & Families for RNF112 Gene

Gene Families for RNF112 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for RNF112 Gene

Graphical View of Domain Structure for InterPro Entry

Q9ULX5

UniProtKB/Swiss-Prot:

RN112_HUMAN :
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3-type GTPase family. GB1 subfamily.
genes like me logo Genes that share domains with RNF112: view

Function for RNF112 Gene

Molecular function for RNF112 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that plays an important role in neuronal differentiation, including neurogenesis and gliogenesis, during brain development. During embryonic development initiates neuronal differentiation by inducing cell cycle arrest at the G0/G1 phase through up-regulation of cell-cycle regulatory proteins (PubMed:28684796). Plays a role not only in the fetal period during the development of the nervous system, but also in the adult brain, where it is involved in the maintenance of neural functions and protection of the nervous tissue cells from oxidative stress-induced damage. Exhibits GTPase and E3 ubiquitin-protein ligase activities. Regulates dendritic spine density and synaptic neurotransmission; its ability to hydrolyze GTP is involved in the maintenance of dendritic spine density (By similarity).
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.

Enzyme Numbers (IUBMB) for RNF112 Gene

Gene Ontology (GO) - Molecular Function for RNF112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003924 GTPase activity IEA --
GO:0005525 GTP binding IEA --
GO:0008270 zinc ion binding NAS 8660987
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF112: view
genes like me logo Genes that share phenotypes with RNF112: view

Animal Models for RNF112 Gene

MGI Knock Outs for RNF112:
  • Rnf112 Rnf112<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF112

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RNF112 Gene

Localization for RNF112 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF112 Gene

Membrane; Multi-pass membrane protein. Membrane; Peripheral membrane protein. Cytoplasm. Nucleus. Nucleus, Nuclear body. Nucleus, nucleoplasm. Endosome. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density. Note=Predominantly in the nucleus, but some amounts were also found in the cytoplasm. Oxidative stress stimulates its shuttling from the cytoplasm into the nucleus. Recruited to nuclear bodies via its interaction with ZBTB16. Localizes to the cell soma and neuritis and only slightly to the nucleus in the neurons of most brain areas. {ECO:0000250 UniProtKB:Q96DY5}.

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 RNF112 gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 2
plasma membrane 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RNF112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RNF112: view

Pathways & Interactions for RNF112 Gene

SuperPathways for RNF112 Gene

No Data Available

UniProtKB/Swiss-Prot Q9ULX5-RN112_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045666 positive regulation of neuron differentiation IEA --
GO:0045687 positive regulation of glial cell differentiation IEA --
GO:0071158 positive regulation of cell cycle arrest IEA --
genes like me logo Genes that share ontologies with RNF112: view

No data available for Pathways by source and SIGNOR curated interactions for RNF112 Gene

Drugs & Compounds for RNF112 Gene

No Compound Related Data Available

Transcripts for RNF112 Gene

Unigene Clusters for RNF112 Gene

Ring finger protein 112:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF112

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF112 Gene

No ASD Table

Relevant External Links for RNF112 Gene

GeneLoc Exon Structure for
RNF112
ECgene alternative splicing isoforms for
RNF112

Expression for RNF112 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF112 Gene

mRNA differential expression in normal tissues according to GTEx for RNF112 Gene

This gene is overexpressed in Brain - Cerebellum (x8.5) and Brain - Cerebellar Hemisphere (x8.0).

Protein differential expression in normal tissues from HIPED for RNF112 Gene

This gene is overexpressed in CD4 Tcells (64.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RNF112 Gene



Protein tissue co-expression partners for RNF112 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNF112 Gene:

RNF112

SOURCE GeneReport for Unigene cluster for RNF112 Gene:

Hs.189482

mRNA Expression by UniProt/SwissProt for RNF112 Gene:

Q9ULX5-RN112_HUMAN
Tissue specificity: Predominantly expressed in brain (PubMed:10574464). Decreased expression in glioma brain tumors as compared to normal brains (at protein level) (PubMed:28684796).

Evidence on tissue expression from TISSUES for RNF112 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with RNF112: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF112 Gene

Orthologs for RNF112 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF112 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF112 33
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia RNF112 34 33
  • 86.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RNF112 34 33
  • 84.85 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf112 33
  • 84.39 (n)
mouse
(Mus musculus)
Mammalia Rnf112 16 34 33
  • 84.29 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 41 (a)
OneToMany
-- 34
  • 40 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 40 (a)
OneToMany
-- 34
  • 40 (a)
OneToMany
-- 34
  • 39 (a)
OneToMany
-- 34
  • 36 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia RNF112 34
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf112 33
  • 51.09 (n)
zebrafish
(Danio rerio)
Actinopterygii RNF112 34
  • 13 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta atl 34
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atln-1 34
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 15 (a)
OneToMany
Species where no ortholog for RNF112 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNF112 Gene

ENSEMBL:
Gene Tree for RNF112 (if available)
TreeFam:
Gene Tree for RNF112 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNF112: view image

Paralogs for RNF112 Gene

Paralogs for RNF112 Gene

(5) SIMAP similar genes for RNF112 Gene using alignment to 2 proteins:

  • RN112_HUMAN
  • J3QRB8_HUMAN
genes like me logo Genes that share paralogs with RNF112: view

Variants for RNF112 Gene

Sequence variations from dbSNP and Humsavar for RNF112 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000072294 -- 19,416,876(+) T/C 3_prime_UTR_variant
rs1000135098 -- 19,408,277(+) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000143734 -- 19,415,473(+) G/C/T intron_variant
rs1000402049 -- 19,407,993(+) A/C 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000529770 -- 19,416,614(+) A/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for RNF112 Gene

Variant ID Type Subtype PubMed ID
nsv1061317 CNV gain 25217958
esv3582561 CNV loss 25503493

Variation tolerance for RNF112 Gene

Residual Variation Intolerance Score: 45.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.53; 29.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF112 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF112

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF112 Gene

Disorders for RNF112 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RNF112 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • sms
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF112

genes like me logo Genes that share disorders with RNF112: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF112 Gene

Publications for RNF112 Gene

  1. Chromosome mapping of human (ZNF179), mouse, and rat genes for brain finger protein (bfp), a member of the RING finger family. (PMID: 8660987) Matsuda Y … Hori T (Genomics 1996) 2 3 4 22 58
  2. Molecular cloning, localization, and developmental expression of mouse brain finger protein (Bfp)/ZNF179: distribution of bfp mRNA partially coincides with the affected areas of Smith-Magenis syndrome. (PMID: 9806830) Orimo A … Muramatsu M (Genomics 1998) 2 3 22 58
  3. Znf179 induces differentiation and growth arrest of human primary glioblastoma multiforme in a p53-dependent cell cycle pathway. (PMID: 28684796) Lee KH … Huang CC (Scientific reports 2017) 3 4 58
  4. Neurolastin, a Dynamin Family GTPase, Regulates Excitatory Synapses and Spine Density. (PMID: 26212327) Lomash RM … Roche KW (Cell reports 2015) 2 3 58
  5. cDNA cloning of a human brain finger protein, BFP/ZNF179, a member of the RING finger protein family. (PMID: 10574464) Seki N … Saito T (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58

Products for RNF112 Gene

Sources for RNF112 Gene

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