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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.

No data available for Entrez Gene 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
GH02F086714 0.7 Ensembl 7.7 -5.2 -5173 1.6 ZFP64 PRDM12 ZNF781 ZNF518A RMND5A GC02P086686
GH02F086694 1.1 FANTOM5 ENCODE 6.8 -24.8 -24778 1.5 ELF3 CBX3 INSM2 GLI4 DNMT3B RARA CHAMP1 ZNF155 ZNF366 SCRT2 SNORD94 LOC102724642 RNF103-CHMP3 RNF103 CHMP3 RNU6-640P RMND5A CD8A ENSG00000231259 GC02P086686
GH02F086747 0.4 ENCODE 5.9 +28.0 28002 1.5 BMI1 CEBPG IRF9 TRIM24 RFX1 ZNF740 HLF CEBPB EP300 POLR2H RNF103-CHMP3 RNF103 CHMP3 RNU6-640P CD8A RMND5A IMMT GC02M086689 LOC105374846
GH02F086719 0.2 ENCODE 5.4 +0.5 521 2.4 ATF1 PKNOX1 SIN3A GLIS2 ZNF207 SP3 NFYC GLIS1 NBN KDM1A CD8A RMND5A ENSG00000231259 RNF103-CHMP3
GH02F086783 1.3 FANTOM5 Ensembl ENCODE 4.6 +69.3 69265 12.6 PKNOX1 ATF1 FEZF1 ZNF366 SCRT2 ZNF143 CREM JUNB REST TBX21 CD8A CD8B CHMP3 RNU6-640P REEP1 ENSG00000231259 RMND5A KDM3A RNF103 LOC105374846
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001544188 527 3401 ATF1 PKNOX1 INSM2 SIN3A ZBTB40 CHAMP1 GLIS2 SCRT2 ZNF207 EGR2

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 Lys 17, Lys 218, and Lys 365
  • 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

Suggested Antigen Peptide Sequences for RMND5A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H871

UniProtKB/Swiss-Prot:

RMD5A_HUMAN :
  • Contains 1 CTLH domain.
Domain:
  • Contains 1 CTLH domain.
  • Contains 1 LisH domain.
genes like me logo Genes that share domains with RMND5A: view

No data available for Gene Families for RMND5A Gene

Function 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for RMND5A Gene COMPARTMENTS Subcellular localization image for RMND5A gene
Compartment Confidence
cytoskeleton 3
cytosol 3
nucleus 3
endoplasmic reticulum 1

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

Transcripts for RMND5A Gene

Unigene Clusters for RMND5A Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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
genes like me logo Genes that share expression patterns with RMND5A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RMND5A 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RMND5A 34 35
  • 96.16 (n)
mouse
(Mus musculus)
Mammalia Rmnd5a 34 16 35
  • 95.06 (n)
cow
(Bos Taurus)
Mammalia RMND5A 34 35
  • 94.8 (n)
rat
(Rattus norvegicus)
Mammalia Rmnd5a 34
  • 94.03 (n)
oppossum
(Monodelphis domestica)
Mammalia RMND5A 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC101751091 34
  • 84.62 (n)
lizard
(Anolis carolinensis)
Reptilia RMND5A 35
  • 95 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rmnd5a 34
  • 81.33 (n)
Str.1465 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.6044 34
fruit fly
(Drosophila melanogaster)
Insecta CG3295 34 35
  • 52.51 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011892 34
  • 51.85 (n)
worm
(Caenorhabditis elegans)
Secernentea T07D1.2 35
  • 22 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RMD5 35 37
  • 23 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G37880 34
  • 48.14 (n)
rice
(Oryza sativa)
Liliopsida Os06g0588900 34
  • 48.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7116 35
  • 48 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU00898 34
  • 45.3 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC29A3.03c 34
  • 44.58 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.729 34
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
rs10169027 -- 86,729,443(+) CAAGC(A/T)TTTTC intron-variant
rs10169475 -- 86,764,770(+) GATGC(A/C)TCATG intron-variant
rs10186663 -- 86,751,970(+) AATGA(A/G)GTGAT reference, synonymous-codon
rs10201422 -- 86,772,048(+) TGCTG(C/T)AGAAA intron-variant
rs10460515 -- 86,766,403(+) aacca(C/T)gtctg 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

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

Disorder Aliases PubMed IDs
meningoencephalocele
  • encephalomeningocele
- 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 64
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for RMND5A Gene

Sources for RMND5A Gene

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