Aliases for RMND5B Gene

Aliases for RMND5B Gene

  • Required For Meiotic Nuclear Division 5 Homolog B 2 3 5
  • E3 Ubiquitin-Protein Transferase RMND5B 3 4
  • GID Complex Subunit 2 Homolog B 2 3
  • Protein RMD5 Homolog B 3 4
  • GID2B 2 3
  • GID2 2 3
  • Required For Meiotic Nuclear Division 5 Homolog B (S. Cerevisiae) 2
  • EC 2.3.2.27 4
  • FLJ22318 2
  • RMND5B 5

External Ids for RMND5B Gene

Previous GeneCards Identifiers for RMND5B Gene

  • GC05P177492
  • GC05P177557
  • GC05P172284

Summaries for RMND5B Gene

GeneCards Summary for RMND5B Gene

RMND5B (Required For Meiotic Nuclear Division 5 Homolog B) is a Protein Coding gene. Diseases associated with RMND5B include Dyskeratosis Congenita, Autosomal Recessive 2 and Dyskeratosis Congenita, Autosomal Recessive 1. An important paralog of this gene is RMND5A.

UniProtKB/Swiss-Prot Summary for RMND5B Gene

  • Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). Catalytic activity of the complex is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972).

Gene Wiki entry for RMND5B Gene

Additional gene information for RMND5B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RMND5B Gene

Genomics for RMND5B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RMND5B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RMND5B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RMND5B

Top Transcription factor binding sites by QIAGEN in the RMND5B gene promoter:
  • COUP
  • Elk-1
  • FAC1
  • HEN1
  • IRF-2
  • Max1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • ZIC2

Genomic Locations for RMND5B Gene

Genomic Locations for RMND5B Gene
chr5:178,130,532-178,150,568
(GRCh38/hg38)
Size:
20,037 bases
Orientation:
Plus strand
chr5:177,557,997-177,577,566
(GRCh37/hg19)
Size:
19,570 bases
Orientation:
Plus strand

Genomic View for RMND5B Gene

Genes around RMND5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMND5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RMND5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMND5B Gene

Proteins for RMND5B Gene

  • Protein details for RMND5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96G75-RMD5B_HUMAN
    Recommended name:
    E3 ubiquitin-protein transferase RMND5B
    Protein Accession:
    Q96G75
    Secondary Accessions:
    • Q1HE27
    • Q6UVY7
    • Q9H6F6

    Protein attributes for RMND5B Gene

    Size:
    393 amino acids
    Molecular mass:
    44414 Da
    Quaternary structure:
    • Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5 (PubMed:29911972). Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles (PubMed:29911972).
    SequenceCaution:
    • Sequence=BAB15303.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RMND5B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RMND5B Gene

Post-translational modifications for RMND5B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RMND5B Gene

Domains & Families for RMND5B Gene

Gene Families for RMND5B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RMND5B Gene

InterPro:
Blocks:
  • CTLH, C-terminal to LisH motif
  • Lissencephaly type-1-like homology motif
ProtoNet:

Suggested Antigen Peptide Sequences for RMND5B Gene

GenScript: Design optimal peptide antigens:
  • Protein RMD5 homolog B (RMD5B_HUMAN)
genes like me logo Genes that share domains with RMND5B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RMND5B Gene

Function for RMND5B Gene

Molecular function for RMND5B Gene

UniProtKB/Swiss-Prot Function:
Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). Catalytic activity of the complex is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=2.3.2.27; Evidence={ECO:0000269|PubMed:29911972};.

Enzyme Numbers (IUBMB) for RMND5B Gene

Phenotypes From GWAS Catalog for RMND5B Gene

Gene Ontology (GO) - Molecular Function for RMND5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RMND5B: view
genes like me logo Genes that share phenotypes with RMND5B: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RMND5B

CRISPR Products

miRNA for RMND5B Gene

miRTarBase miRNAs that target RMND5B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RMND5B

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RMND5B Gene

Localization for RMND5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for RMND5B Gene

Cytoplasm, cytosol.

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 RMND5B gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 1
mitochondrion 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RMND5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IEA,IDA 25793641
GO:0034657 GID complex IBA 21873635
genes like me logo Genes that share ontologies with RMND5B: view

Pathways & Interactions for RMND5B Gene

PathCards logo

SuperPathways for RMND5B Gene

No Data Available

Gene Ontology (GO) - Biological Process for RMND5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IBA 21873635
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA 21873635
genes like me logo Genes that share ontologies with RMND5B: view

No data available for Pathways by source and SIGNOR curated interactions for RMND5B Gene

Drugs & Compounds for RMND5B Gene

No Compound Related Data Available

Transcripts for RMND5B Gene

mRNA/cDNA for RMND5B Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
12 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 RMND5B

Alternative Splicing Database (ASD) splice patterns (SP) for RMND5B Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ·
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - -
SP4: - - - - - - -
SP5: - -
SP6: - - - - -
SP7: - - - - - -
SP8: - - - -
SP9: - - - -
SP10: -
SP11:
SP12: -

ExUns: 14d
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for RMND5B Gene

GeneLoc Exon Structure for
RMND5B

Expression for RMND5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RMND5B Gene

Protein differential expression in normal tissues from HIPED for RMND5B Gene

This gene is overexpressed in Testis (37.9) and Uterus (31.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RMND5B Gene



Protein tissue co-expression partners for RMND5B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RMND5B

SOURCE GeneReport for Unigene cluster for RMND5B Gene:

Hs.27222

Evidence on tissue expression from TISSUES for RMND5B Gene

  • Nervous system(4.3)
  • Lung(4.3)
genes like me logo Genes that share expression patterns with RMND5B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RMND5B Gene

Orthologs for RMND5B Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RMND5B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia RMND5B 30 31
  • 99.32 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RMND5B 30 31
  • 92.45 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RMND5B 30 31
  • 91.77 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Rmnd5b 30 17 31
  • 89.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rmnd5b 30
  • 88.89 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia RMND5B 31
  • 82 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RMND5B 31
  • 85 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii rmnd5b 30 31
  • 69.48 (n)
OneToOne
zgc73277 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG3295 31
  • 39 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea T07D1.2 30 31
  • 40.81 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RMD5 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7116 31
  • 48 (a)
OneToMany
Species where no ortholog for RMND5B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for RMND5B Gene

ENSEMBL:
Gene Tree for RMND5B (if available)
TreeFam:
Gene Tree for RMND5B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RMND5B: view image

Paralogs for RMND5B Gene

Paralogs for RMND5B Gene

(2) SIMAP similar genes for RMND5B Gene using alignment to 7 proteins:

  • RMD5B_HUMAN
  • D6R9A2_HUMAN
  • D6RER3_HUMAN
  • D6RFE6_HUMAN
  • D6RFK1_HUMAN
  • D6RIF9_HUMAN
  • F5H6G4_HUMAN
genes like me logo Genes that share paralogs with RMND5B: view

Variants for RMND5B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RMND5B Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
854558 Uncertain Significance: Dyskeratosis congenita 178,149,772(+) ACTC/A INFRAME_DELETION,THREE_PRIME_UTR_VARIANT
rs115334254 Benign/Likely Benign: Dyskeratosis congenita; Dyskeratosis Congenita, Recessive 178,149,824(+) G/A MISSENSE_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs121908089 Pathogenic: Dyskeratosis congenita autosomal recessive 1; Dyskeratosis congenita, autosomal recessive 2 178,149,760(+) A/G MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
rs121908090 Pathogenic: Dyskeratosis congenita autosomal recessive 1; Dyskeratosis congenita, autosomal recessive 2 178,149,799(+) C/T MISSENSE_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
rs121908091 Pathogenic: Dyskeratosis congenita autosomal recessive 1; Dyskeratosis congenita, autosomal recessive 2; not provided 178,149,715(+) A/T STOP_LOST,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for RMND5B Gene

Structural Variations from Database of Genomic Variants (DGV) for RMND5B Gene

Variant ID Type Subtype PubMed ID
dgv5844n100 CNV gain 25217958
esv3352132 CNV duplication 20981092
esv3607706 CNV loss 21293372
nsv1019404 CNV gain 25217958
nsv1120062 OTHER inversion 24896259
nsv462567 CNV loss 19166990
nsv471058 CNV loss 18288195
nsv600392 CNV loss 21841781
nsv600394 CNV loss 21841781

Variation tolerance for RMND5B Gene

Residual Variation Intolerance Score: 37.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.81; 34.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RMND5B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMND5B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RMND5B Gene

Disorders for RMND5B Gene

MalaCards: The human disease database

(6) MalaCards diseases for RMND5B Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with RMND5B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RMND5B Gene

Publications for RMND5B Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  2. The multi-subunit GID/CTLH E3 ubiquitin ligase promotes cell proliferation and targets the transcription factor Hbp1 for degradation. (PMID: 29911972) Lampert F … Peter M (eLife 2018) 3 4
  3. RMND5 from Xenopus laevis is an E3 ubiquitin-ligase and functions in early embryonic forebrain development. (PMID: 25793641) Pfirrmann T … Hollemann T (PloS one 2015) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for RMND5B Gene

  • Signalway Proteins for RMND5B

Sources for RMND5B Gene