Aliases for RNF144B Gene

Aliases for RNF144B Gene

  • Ring Finger Protein 144B 2 3 5
  • E3 Ubiquitin-Protein Ligase RNF144B 3 4
  • P53-Inducible RING Finger Protein 3 4
  • IBR Domain-Containing Protein 2 3 4
  • IBR Domain Containing 2 2 3
  • P53RFP 3 4
  • IBRDC2 3 4
  • RING Finger Protein 144B 4
  • EC 2.3.2.31 4
  • BA528A10.3 3
  • EC 6.3.2 52
  • PIR2 3

External Ids for RNF144B Gene

Previous HGNC Symbols for RNF144B Gene

  • IBRDC2

Previous GeneCards Identifiers for RNF144B Gene

  • GC06P018496
  • GC06P018368

Summaries for RNF144B Gene

GeneCards Summary for RNF144B Gene

RNF144B (Ring Finger Protein 144B) is a Protein Coding gene. Diseases associated with RNF144B include Cardiomyopathy, Familial Hypertrophic, 4 and Cardiomyopathy, Familial Hypertrophic, 6. Among its related pathways are Direct p53 effectors and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin-protein transferase activity. An important paralog of this gene is RNF144A.

UniProtKB/Swiss-Prot Summary for RNF144B Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a p53/TP53-dependent but caspase-independent mechanism. However, its overexpression also produces a decrease of the ubiquitin-dependent stability of BAX, a pro-apoptotic protein, ultimately leading to protection of cell death; But, it is not an anti-apoptotic protein per se.

Additional gene information for RNF144B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RNF144B Gene

Genomics for RNF144B Gene

GeneHancer (GH) Regulatory Elements for RNF144B Gene

Promoters and enhancers for RNF144B 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
GH06J018386 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 530 +111.3 111299 5.6 EP300 POLR2G JUND ZNF639 POLR2A ZBTB26 ZBTB25 TGIF2 SKI TEAD1 RNF144B RNU6-263P DEK ENSG00000218976 KDM1B KIF13A piR-32811 IMPDH1P9
GH06J018327 Promoter/Enhancer 1.4 EPDnew FANTOM5 ENCODE dbSUPER 513.3 +51.0 50971 2.7 CTBP1 OSR2 KLF9 KLF13 GATA3 TAL1 HIC1 PRDM6 PRDM4 ZZZ3 RNF144B DEK KDM1B KIF13A piR-41405-037 piR-50437-552
GH06J018277 Promoter 0.7 EPDnew 500.7 -0.2 -230 0.1 ZIC2 ZBTB26 POLR2A ZBTB48 ZNF335 MAZ EZH2 SUZ12 ZBTB8A ZNF692 HSALNG0048392 RNF144B RNU6-263P
GH06J018349 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 59.1 +73.9 73899 4.8 FOS CEBPB ZFHX2 GATA3 PKNOX1 ESR1 EGR2 EBF1 POLR2A FOXA1 lnc-DEK-2 RNF144B RNU6-263P DEK KDM1B piR-41405-037
GH06J018400 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 38 +123.6 123573 1.6 EP300 TRIM22 BCL11A NBN SPI1 BATF ELF1 FOS IRF4 POU2F2 RF01210-326 piR-32811 RNF144B KDM1B DEK KIF13A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RNF144B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RNF144B

Top Transcription factor binding sites by QIAGEN in the RNF144B gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • MRF-2
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT5B

Genomic Locations for RNF144B Gene

Genomic Locations for RNF144B Gene
chr6:18,277,515-18,468,874
(GRCh38/hg38)
Size:
191,360 bases
Orientation:
Plus strand
chr6:18,368,779-18,469,105
(GRCh37/hg19)
Size:
100,327 bases
Orientation:
Plus strand

Genomic View for RNF144B Gene

Genes around RNF144B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF144B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNF144B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF144B Gene

Proteins for RNF144B Gene

  • Protein details for RNF144B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z419-R144B_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF144B
    Protein Accession:
    Q7Z419
    Secondary Accessions:
    • B3KUA8
    • B4DZI2
    • Q5TB85
    • Q6P4Q0
    • Q8N3R7
    • Q9BX38

    Protein attributes for RNF144B Gene

    Size:
    303 amino acids
    Molecular mass:
    33697 Da
    Quaternary structure:
    • Interacts with UBE2L3, UBE2L6 and LCMT2, as well as with BAX.
    SequenceCaution:
    • Sequence=CAD38622.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RNF144B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF144B Gene

Selected DME Specific Peptides for RNF144B Gene

Q7Z419:
  • EGCAQMMCKNCKH
  • GPCRNKLGHSRASV

Post-translational modifications for RNF144B Gene

Other Protein References for RNF144B Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for RNF144B Gene

Gene Families for RNF144B Gene

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

Protein Domains for RNF144B Gene

Blocks:
  • Zn-finger, RING
  • Zn-finger, cysteine-rich C6HC
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RNF144B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59797, highly similar to E3 ubiquitin ligase IBRDC2 (EC 6.3.2.-) (B4DZI2_HUMAN)
  • p53-inducible RING finger protein (R144B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z419

UniProtKB/Swiss-Prot:

R144B_HUMAN :
  • The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme (By similarity). The transmembrane domain is essential for translocation to the mitochondria upon induction of apoptosis.
  • Belongs to the RBR family. RNF144 subfamily.
Domain:
  • The RING-type zinc finger domain mediates binding to an E2 ubiquitin-conjugating enzyme (By similarity). The transmembrane domain is essential for translocation to the mitochondria upon induction of apoptosis.
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
Family:
  • Belongs to the RBR family. RNF144 subfamily.
genes like me logo Genes that share domains with RNF144B: view

Function for RNF144B Gene

Molecular function for RNF144B Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates such as LCMT2, thereby promoting their degradation. Induces apoptosis via a p53/TP53-dependent but caspase-independent mechanism. However, its overexpression also produces a decrease of the ubiquitin-dependent stability of BAX, a pro-apoptotic protein, ultimately leading to protection of cell death; But, it is not an anti-apoptotic protein per se.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.; EC=2.3.2.31; Evidence=. ;.

Enzyme Numbers (IUBMB) for RNF144B Gene

Phenotypes From GWAS Catalog for RNF144B Gene

Gene Ontology (GO) - Molecular Function for RNF144B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 12853982
GO:0005515 protein binding IPI 12853982
GO:0016740 transferase activity IEA --
GO:0031624 ubiquitin conjugating enzyme binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF144B: view
genes like me logo Genes that share phenotypes with RNF144B: view

Animal Models for RNF144B Gene

MGI Knock Outs for RNF144B:
  • Rnf144b Rnf144b<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF144B

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RNF144B Gene

Localization for RNF144B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF144B Gene

Mitochondrion membrane; Single-pass membrane protein. Cytoplasm. Note=Mostly cytosololic, accumulates in submitochondrial domains specifically upon apoptosis induction, in synchrony with BAX activation.

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 RNF144B gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 3
plasma membrane 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RNF144B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IC 12853982
GO:0005737 cytoplasm IBA,IDA 20300062
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RNF144B: view

Pathways & Interactions for RNF144B Gene

genes like me logo Genes that share pathways with RNF144B: view

UniProtKB/Swiss-Prot Q7Z419-R144B_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF144B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination TAS,IBA --
GO:0006511 ubiquitin-dependent protein catabolic process IBA,IDA 12853982
GO:0006915 apoptotic process IEA --
GO:0016567 protein ubiquitination IEA --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with RNF144B: view

No data available for SIGNOR curated interactions for RNF144B Gene

Drugs & Compounds for RNF144B Gene

(3) Drugs for RNF144B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for RNF144B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with RNF144B: view

Transcripts for RNF144B Gene

mRNA/cDNA for RNF144B Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RNF144B

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF144B Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5:

Relevant External Links for RNF144B Gene

GeneLoc Exon Structure for
RNF144B

Expression for RNF144B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RNF144B Gene

mRNA differential expression in normal tissues according to GTEx for RNF144B Gene

This gene is overexpressed in Whole Blood (x6.9).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RNF144B

SOURCE GeneReport for Unigene cluster for RNF144B Gene:

Hs.148741

mRNA Expression by UniProt/SwissProt for RNF144B Gene:

Q7Z419-R144B_HUMAN
Tissue specificity: Broadly expressed, with lowest levels in brain and thymus, and highest levels detectable in heart, ovary and testis.

Evidence on tissue expression from TISSUES for RNF144B Gene

  • Muscle(4.3)
genes like me logo Genes that share expression patterns with RNF144B: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNF144B Gene

Orthologs for RNF144B Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF144B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF144B 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RNF144B 31 30
  • 90.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RNF144B 31 30
  • 89.66 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF144B 31
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf144b 17 31 30
  • 84.72 (n)
rat
(Rattus norvegicus)
Mammalia Rnf144b 30
  • 84.5 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNF144B 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF144B 31 30
  • 76.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF144B 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf144b 30
  • 72.52 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:63907 30
  • 63.95 (n)
RNF144B 31
  • 61 (a)
OneToOne
zgc63907 30
fruit fly
(Drosophila melanogaster)
Insecta CG33144 31
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3687 31
  • 33 (a)
OneToMany
Cin.606 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.606 30
Species where no ortholog for RNF144B 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for RNF144B Gene

ENSEMBL:
Gene Tree for RNF144B (if available)
TreeFam:
Gene Tree for RNF144B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RNF144B: view image

Paralogs for RNF144B Gene

Paralogs for RNF144B Gene

(1) SIMAP similar genes for RNF144B Gene using alignment to 2 proteins:

  • R144B_HUMAN
  • B4DZI2_HUMAN
genes like me logo Genes that share paralogs with RNF144B: view

Variants for RNF144B Gene

Additional dbSNP identifiers (rs#s) for RNF144B Gene

Structural Variations from Database of Genomic Variants (DGV) for RNF144B Gene

Variant ID Type Subtype PubMed ID
dgv10310n54 CNV loss 21841781
dgv174n73 CNV deletion 24416366
dgv3279n106 CNV deletion 24896259
esv2049444 CNV deletion 18987734
esv21847 CNV gain 19812545
esv2467136 CNV deletion 19546169
esv2612022 CNV deletion 19546169
esv2731640 CNV deletion 23290073
esv3181 CNV loss 18987735
esv3288162 CNV deletion 24192839
esv3567349 CNV deletion 23714750
esv3570783 CNV loss 25503493
esv3608240 CNV loss 21293372
esv3608241 CNV loss 21293372
esv5916 CNV loss 19470904
esv999347 CNV deletion 20482838
nsv1073172 CNV deletion 25765185
nsv1149478 CNV deletion 26484159
nsv511853 CNV loss 21212237
nsv514344 CNV loss 21397061
nsv601051 CNV loss 21841781
nsv601053 CNV loss 21841781
nsv819265 CNV loss 19587683
nsv820580 CNV deletion 20802225

Variation tolerance for RNF144B Gene

Residual Variation Intolerance Score: 36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.36; 26.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RNF144B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF144B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RNF144B Gene

Disorders for RNF144B Gene

MalaCards: The human disease database

(2) MalaCards diseases for RNF144B Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RNF144B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RNF144B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RNF144B Gene

Publications for RNF144B Gene

  1. The p53-inducible E3 ubiquitin ligase p53RFP induces p53-dependent apoptosis. (PMID: 16427630) Huang J … Shu HB (FEBS letters 2006) 3 4 23 54
  2. p53RFP, a p53-inducible RING-finger protein, regulates the stability of p21WAF1. (PMID: 12853982) Ng CC … Nakamura Y (Oncogene 2003) 3 4 23 54
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  4. IBRDC2, an IBR-type E3 ubiquitin ligase, is a regulatory factor for Bax and apoptosis activation. (PMID: 20300062) Benard G … Karbowski M (The EMBO journal 2010) 3 4 54
  5. Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. (PMID: 18821565) Lasky-Su J … Faraone SV (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 41 54

Products for RNF144B Gene

Sources for RNF144B Gene