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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. 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

GeneHancer (GH) Regulatory Elements for RMND5A Gene

Promoters and enhancers for RMND5A 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
GH02I086719 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 555.4 +0.5 465 2.5 PKNOX1 ATF1 FOXA2 ARNT SIN3A POLR2B GLIS2 ZNF207 ATF7 SP3 RMND5A RNF103-CHMP3 CD8A ENSG00000231259 GC02M086689
GH02I086694 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.8 -24.8 -24778 1.5 FOXA2 GLI4 ETS1 TCF12 ZNF280A FOS ATF7 SP3 NFYC NCOA1 SNORD94 LOC102724642 RNF103-CHMP3 RNF103 POLR1A CHMP3 RNU6-640P RMND5A CD8A ENSG00000231259
GH02I086783 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.7 +69.3 69264 12.6 PKNOX1 ATF1 ZSCAN4 FEZF1 ZNF335 ZNF366 SCRT2 ZNF143 ATF7 BCLAF1 CD8A CD8B CHMP3 RNU6-640P REEP1 ENSG00000231259 RMND5A KDM3A RNF103 LOC105374846
GH02I086714 Enhancer 0.7 Ensembl dbSUPER 7.7 -5.2 -5173 1.6 ZNF555 PRDM12 ZFP64 ZC3H11A ZNF781 ZNF518A ZNF697 LOC102724642 SNORD94 ENSG00000231259 LOC100420889 LOC730268 PTCD3 LOC105374845 RMND5A RNF103-CHMP3 GC02M086689
GH02I086747 Enhancer 0.7 ENCODE 6 +28.0 28002 1.5 CEBPG BMI1 IRF9 ZNF335 ATF7 TRIM24 RFX1 SOX6 ZNF740 HLF RNF103-CHMP3 RNF103 CHMP3 RNU6-640P CD8A RMND5A IMMT GC02M086689 LOC105374846
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RMND5A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RMND5A gene promoter:

Genomic Locations for RMND5A Gene

Genomic Locations for RMND5A Gene
chr2:86,720,173-86,778,041
(GRCh38/hg38)
Size:
57,869 bases
Orientation:
Plus strand
chr2:86,947,296-87,005,164
(GRCh37/hg19)

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, isoforms=218, and Lys365

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

HGNC:
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

miRNA for RMND5A Gene

miRTarBase miRNAs that target RMND5A

Clone Products

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:

Clone Products

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

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 34 36
  • 23 (a)
OneToMany
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 Variation AA Info Type
rs1000106432 -- 86,719,805(+) G/C upstream_transcript_variant
rs1000193952 -- 86,772,485(+) AAAAAAA/AAAAAAAA intron_variant
rs1000222729 -- 86,765,430(+) A/G intron_variant
rs1000290826 -- 86,745,864(+) A/T intron_variant
rs1000294570 -- 86,764,844(+) T/C 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)

Additional Variant Information 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

(1) MalaCards diseases for RMND5A Gene - From: GeneCards

Disorder Aliases PubMed IDs
meningoencephalocele
  • encephalomeningocele
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for 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 58
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RMND5A Gene

Sources for RMND5A Gene

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