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Aliases for RMND5A Gene

Aliases for RMND5A Gene

  • Required For Meiotic Nuclear Division 5 Homolog A 2 3 5
  • 44-KD Protein Coding For CTLH Motif 2 3
  • GID Complex Subunit 2 Homolog A 2 3
  • Required For Meiotic Nuclear Division 5 Homolog A (S. Cerevisiae) 2
  • C-Terminal To LisH Motif, 44 KDa 3
  • Protein RMD5 Homolog A 3
  • P44CTLH 3
  • GID2A 3
  • CTLH 3
  • GID2 3
  • RMD5 3

External Ids for RMND5A Gene

Previous GeneCards Identifiers for RMND5A Gene

  • GC02P086800
  • GC02P086947

Summaries for RMND5A Gene

GeneCards Summary for RMND5A Gene

RMND5A (Required For Meiotic Nuclear Division 5 Homolog A) is a Protein Coding gene. Diseases associated with RMND5A include Meningoencephalocele and Usher Syndrome, Type 1B. An important paralog of this gene is RMND5B.

Additional gene information for RMND5A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RMND5A Gene

Genomics for RMND5A Gene

Regulatory Elements for RMND5A Gene

Enhancers for RMND5A 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
GH02H086694 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6.8 -24.8 -24778 1 FOXA2 GLI4 TCF12 FOS ATF7 SP3 NFYC NCOA1 SREBF1 SMARCA4 SNORD94 LOC102724642 RNF103-CHMP3 RNF103 KDM3A POLR1A CHMP3 RNU6-640P RMND5A CD8A
GH02H086783 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.6 +69.3 69265 12 PKNOX1 ATF1 ZSCAN4 FEZF1 ZNF366 SCRT2 ZNF143 ATF7 RUNX3 CREM CD8A CD8B CHMP3 RNU6-640P REEP1 ENSG00000231259 RMND5A KDM3A RNF103 LOC105374846
GH02H086719 1.2 ENCODE dbSUPER 5.4 +0.5 521 2 PKNOX1 ATF1 FOXA2 ARNT SIN3A GLIS2 ZNF207 ATF7 SP3 NFYC CD8A RMND5A ENSG00000231259 RNF103-CHMP3
GH02H086714 0.8 Ensembl dbSUPER 7.7 -5.2 -5173 1 ZNF555 PRDM12 ZFP64 ZC3H11A ZNF781 ZNF518A ZNF697 PTCD3 RMND5A GC02P086686
GH02H086747 0.7 ENCODE 5.9 +28.0 28002 1 RFX1 SOX6 ZNF740 HLF CEBPB CEBPG BMI1 EP300 IRF9 JUND RNF103-CHMP3 RNF103 CHMP3 RNU6-640P CD8A RMND5A IMMT GC02M086689 LOC105374846
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RMND5A on UCSC Golden Path with GeneCards custom track

Promoters for RMND5A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000119765 427 2401 PKNOX1 ATF1 FOXA2 ARNT SIN3A GLIS2 ZNF207 ATF7 SP3 NFYC

Genomic Location for RMND5A Gene

Chromosome:
2
Start:
86,720,173 bp from pter
End:
86,778,041 bp from pter
Size:
57,869 bases
Orientation:
Plus strand

Genomic View for RMND5A Gene

Genes around RMND5A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMND5A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RMND5A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMND5A Gene

Proteins for RMND5A Gene

  • Protein details for RMND5A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H871-RMD5A_HUMAN
    Recommended name:
    Protein RMD5 homolog A
    Protein Accession:
    Q9H871
    Secondary Accessions:
    • D6W5M6
    • Q6NTF0
    • Q9H6W5
    • Q9H9H2

    Protein attributes for RMND5A Gene

    Size:
    391 amino acids
    Molecular mass:
    43993 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RMND5A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RMND5A Gene

Post-translational modifications for RMND5A Gene

  • Ubiquitination at Lys17, Lys218, and Lys365
  • Modification sites at PhosphoSitePlus

Other Protein References for RMND5A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RMND5A Gene

Domains & Families for RMND5A Gene

Gene Families for RMND5A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RMND5A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with RMND5A: view

No data available for UniProtKB/Swiss-Prot for RMND5A Gene

Function for RMND5A Gene

Phenotypes From GWAS Catalog for RMND5A Gene

Gene Ontology (GO) - Molecular Function for RMND5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RMND5A: view

Phenotypes for RMND5A Gene

GenomeRNAi human phenotypes for RMND5A:
genes like me logo Genes that share phenotypes with RMND5A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RMND5A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RMND5A Gene

Localization for RMND5A 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 RMND5A gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RMND5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IBA --
GO:0034657 GID complex IBA --
genes like me logo Genes that share ontologies with RMND5A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RMND5A Gene

Pathways & Interactions for RMND5A Gene

SuperPathways for RMND5A Gene

No Data Available

Gene Ontology (GO) - Biological Process for RMND5A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with RMND5A: view

No data available for Pathways by source and SIGNOR curated interactions for RMND5A Gene

Drugs & Compounds for RMND5A Gene

No Compound Related Data Available

Transcripts for RMND5A Gene

Unigene Clusters for RMND5A Gene

Required for meiotic nuclear division 5 homolog A (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RMND5A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RMND5A Gene

No ASD Table

Relevant External Links for RMND5A Gene

GeneLoc Exon Structure for
RMND5A
ECgene alternative splicing isoforms for
RMND5A

Expression for RMND5A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RMND5A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RMND5A Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.5).

Protein differential expression in normal tissues from HIPED for RMND5A Gene

This gene is overexpressed in Liver (58.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RMND5A Gene



Protein tissue co-expression partners for RMND5A Gene

NURSA nuclear receptor signaling pathways regulating expression of RMND5A Gene:

RMND5A

SOURCE GeneReport for Unigene cluster for RMND5A Gene:

Hs.75277

Evidence on tissue expression from TISSUES for RMND5A Gene

  • Muscle(4.3)
  • Eye(4.2)
  • Nervous system(3.9)
  • Liver(2)
genes like me logo Genes that share expression patterns with RMND5A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RMND5A Gene

Orthologs for RMND5A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RMND5A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RMND5A 33 34
  • 99.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RMND5A 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RMND5A 33 34
  • 96.16 (n)
mouse
(Mus musculus)
Mammalia Rmnd5a 33 16 34
  • 95.06 (n)
cow
(Bos Taurus)
Mammalia RMND5A 33 34
  • 94.8 (n)
rat
(Rattus norvegicus)
Mammalia Rmnd5a 33
  • 94.03 (n)
oppossum
(Monodelphis domestica)
Mammalia RMND5A 34
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101751091 33
  • 84.62 (n)
lizard
(Anolis carolinensis)
Reptilia RMND5A 34
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rmnd5a 33
  • 81.33 (n)
Str.1465 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6044 33
fruit fly
(Drosophila melanogaster)
Insecta CG3295 33 34
  • 52.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011892 33
  • 51.85 (n)
worm
(Caenorhabditis elegans)
Secernentea T07D1.2 34
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RMD5 36 34
  • 23 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G37880 33
  • 48.14 (n)
rice
(Oryza sativa)
Liliopsida Os06g0588900 33
  • 48.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7116 34
  • 48 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00898 33
  • 45.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC29A3.03c 33
  • 44.58 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.729 33
Species where no ortholog for RMND5A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for RMND5A Gene

ENSEMBL:
Gene Tree for RMND5A (if available)
TreeFam:
Gene Tree for RMND5A (if available)

Paralogs for RMND5A Gene

Paralogs for RMND5A Gene

(2) SIMAP similar genes for RMND5A Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for RMND5A Gene

genes like me logo Genes that share paralogs with RMND5A: view

Variants for RMND5A Gene

Sequence variations from dbSNP and Humsavar for RMND5A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000106432 -- 86,719,805(+) GTCTA(C/G)TTTTC intron-variant, upstream-variant-2KB
rs1000193952 -- 86,772,484(+) AAAAC(-/A)AAAAA intron-variant
rs1000222729 -- 86,765,430(+) GAGAA(A/G)GAGCA intron-variant
rs1000290826 -- 86,745,864(+) GGAAA(A/T)AGTTT intron-variant
rs1000294570 -- 86,764,844(+) GCCTC(C/T)GCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RMND5A Gene

Variant ID Type Subtype PubMed ID
dgv3886n100 CNV gain 25217958
dgv714e214 CNV gain 21293372
esv2421358 CNV deletion 20811451
esv25494 CNV gain 19812545
esv3591556 CNV loss 21293372
esv3591559 CNV gain 21293372
nsv10063 CNV gain 18304495
nsv1131476 CNV deletion 24896259
nsv458585 CNV gain 19166990
nsv521780 CNV loss 19592680
nsv582373 CNV gain 21841781
nsv7316 OTHER inversion 18451855
nsv819383 CNV loss 19587683
nsv961802 CNV duplication 23825009
nsv997982 CNV gain 25217958

Variation tolerance for RMND5A Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RMND5A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMND5A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RMND5A Gene

Disorders for RMND5A Gene

MalaCards: The human disease database

(2) MalaCards diseases for RMND5A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
meningoencephalocele
  • encephalomeningocele
usher syndrome, type 1b
  • usher syndrome type 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RMND5A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RMND5A
genes like me logo Genes that share disorders with RMND5A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RMND5A Gene

Publications for RMND5A Gene

  1. RanBPM, Muskelin, p48EMLP, p44CTLH, and the armadillo-repeat proteins ARMC8alpha and ARMC8beta are components of the CTLH complex. (PMID: 17467196) Kobayashi N … Ishigatsubo Y (Gene 2007) 2 3 60
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. 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
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for RMND5A Gene

Sources for RMND5A Gene

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