Aliases for RMDN3 Gene

Aliases for RMDN3 Gene

  • Regulator Of Microtubule Dynamics 3 2 3 5
  • Protein Tyrosine Phosphatase-Interacting Protein 51 3 4
  • Family With Sequence Similarity 82, Member A2 2 3
  • Regulator Of Microtubule Dynamics Protein 3 3 4
  • TCPTP-Interacting Protein 51 3 4
  • Cerebral Protein 10 3 4
  • FAM82A2 3 4
  • PTPIP51 2 4
  • FAM82C 3 4
  • RMD-3 3 4
  • RMD3 2 3
  • Family With Sequence Similarity 82, Member C 3
  • Microtubule-Associated Protein 3
  • Protein FAM82A2 4
  • Protein FAM82C 4
  • FLJ10579 2
  • Ptpip51 3
  • HRMD-3 4
  • RMDN3 5

External Ids for RMDN3 Gene

Previous HGNC Symbols for RMDN3 Gene

  • FAM82C
  • FAM82A2

Previous GeneCards Identifiers for RMDN3 Gene

  • GC15M041029

Summaries for RMDN3 Gene

GeneCards Summary for RMDN3 Gene

RMDN3 (Regulator Of Microtubule Dynamics 3) is a Protein Coding gene. Diseases associated with RMDN3 include Amyotrophic Lateral Sclerosis 16, Juvenile and Amyotrophic Lateral Sclerosis 8. An important paralog of this gene is RMDN1.

UniProtKB/Swiss-Prot Summary for RMDN3 Gene

  • Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RMDN3 Gene

Genomics for RMDN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RMDN3 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
GH15J040753 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 268.7 +1.0 1023 2.9 SP1 ZNF207 NCOR1 MYC SIX5 ZNF580 ZNF592 ATF2 POLR2A BRCA1 RMDN3 CCDC32 RAD51 BUB1B KNL1 HSALNG0105283 MN298678-025
GH15J040563 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 17.1 +191.2 191225 3.3 SP1 MYC NCOR1 IKZF1 ZNF600 POLR2A CHD4 YY1 MXD4 CTCF CCDC32 lnc-RMDN3-5 RMDN3 lnc-RMDN3-6 CHST14
GH15J040693 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 15.6 +60.6 60581 3.5 BCLAF1 SP1 MYC ZNF600 SIX5 POLR2A ZNF10 ZSCAN16 BRCA1 NFIC RAD51 RAD51-AS1 CCDC32 ENSG00000259211 BUB1B INO80 RMDN3 DNAJC17 KNL1 KNSTRN
GH15J040592 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 15.1 +161.3 161295 3.3 SP1 ZNF207 ZNF600 SIX5 JUND ZNF580 ZNF592 ATF2 CEBPA POLR3G KNL1 TRS-GCT4-2 piR-34439-002 CCDC32 INO80 DNAJC17 ENSG00000259211 RMDN3 BMF RAD51-AS1
GH15J040791 Enhancer 1.2 Ensembl ENCODE dbSUPER 25.1 -38.8 -38750 6 IKZF1 JUND CEBPA ATF3 BRCA1 NFIC YY1 CEBPB FEZF1 HOMEZ ZFYVE19 RMDN3 CCDC32 C15orf62 SPINT1 GCHFR RAD51 RAD51-AS1 RHOV RPUSD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RMDN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RMDN3

Genomic Locations for RMDN3 Gene

Latest Assembly
chr15:40,735,884-40,755,851
(GRCh38/hg38)
Size:
19,968 bases
Orientation:
Minus strand

Previous Assembly
chr15:41,028,085-41,047,452
(GRCh37/hg19 by Entrez Gene)
Size:
19,368 bases
Orientation:
Minus strand

chr15:41,028,082-41,048,049
(GRCh37/hg19 by Ensembl)
Size:
19,968 bases
Orientation:
Minus strand

Genomic View for RMDN3 Gene

Genes around RMDN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMDN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RMDN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMDN3 Gene

Proteins for RMDN3 Gene

  • Protein details for RMDN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96TC7-RMD3_HUMAN
    Recommended name:
    Regulator of microtubule dynamics protein 3
    Protein Accession:
    Q96TC7
    Secondary Accessions:
    • A9UMZ9
    • B3KRR3
    • Q6ZWE9
    • Q96H23
    • Q96SD6
    • Q9H6G1
    • Q9NVQ6

    Protein attributes for RMDN3 Gene

    Size:
    470 amino acids
    Molecular mass:
    52118 Da
    Quaternary structure:
    • Interacts with PTPN2. Interacts with microtubules. Interacts with VAPB. Interacts (FFAT motif) with MOSPD2 (via MSP domain) (PubMed:29858488).
    SequenceCaution:
    • Sequence=BAB15298.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=BAC85554.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for RMDN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RMDN3 Gene

Post-translational modifications for RMDN3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RMDN3 Gene

Domains & Families for RMDN3 Gene

Gene Families for RMDN3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for RMDN3 Gene

Suggested Antigen Peptide Sequences for RMDN3 Gene

GenScript: Design optimal peptide antigens:
  • TCPTP-interacting protein 51 (RMD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96TC7

UniProtKB/Swiss-Prot:

RMD3_HUMAN :
  • The transmembrane region is required for mitochondrial localization.
  • Belongs to the RMDN family.
Domain:
  • The transmembrane region is required for mitochondrial localization.
  • The FFAT motif is required for interaction with MOSPD2.
Family:
  • Belongs to the RMDN family.
genes like me logo Genes that share domains with RMDN3: view

Function for RMDN3 Gene

Molecular function for RMDN3 Gene

UniProtKB/Swiss-Prot Function:
Involved in cellular calcium homeostasis regulation. May participate in differentiation and apoptosis of keratinocytes. Overexpression induces apoptosis.
UniProtKB/Swiss-Prot Induction:
By EGF, TGFB1, retinoic acid- and 1,25-dihydroxyvitamin D(3).

Phenotypes From GWAS Catalog for RMDN3 Gene

Gene Ontology (GO) - Molecular Function for RMDN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 18771726
GO:0008017 microtubule binding IDA 18070910
genes like me logo Genes that share ontologies with RMDN3: view
genes like me logo Genes that share phenotypes with RMDN3: view

Animal Models for RMDN3 Gene

MGI Knock Outs for RMDN3:
  • Rmdn3 Rmdn3<tm1a(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for RMDN3

miRNA for RMDN3 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RMDN3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RMDN3 Gene

Localization for RMDN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RMDN3 Gene

Mitochondrion outer membrane. Single-pass membrane protein. Cytoplasm. Nucleus. Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=In interphase localizes in the cytoplasm, and during mitosis localizes to the spindle microtubules and spindle poles. {ECO:0000269 PubMed:18070910}.

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 RMDN3 gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
extracellular 4
nucleus 4
endoplasmic reticulum 3
plasma membrane 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (4)
  • Mitochondria (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RMDN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005739 mitochondrion IDA 29858488
GO:0005741 mitochondrial outer membrane IEA,IDA 22131369
genes like me logo Genes that share ontologies with RMDN3: view

Pathways & Interactions for RMDN3 Gene

PathCards logo

SuperPathways for RMDN3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RMDN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006874 cellular calcium ion homeostasis IMP 22131369
GO:0006915 apoptotic process IEA --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with RMDN3: view

No data available for Pathways by source and SIGNOR curated interactions for RMDN3 Gene

Drugs & Compounds for RMDN3 Gene

No Compound Related Data Available

Transcripts for RMDN3 Gene

mRNA/cDNA for RMDN3 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RMDN3

Alternative Splicing Database (ASD) splice patterns (SP) for RMDN3 Gene

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

ExUns: 15 ^ 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for RMDN3 Gene

GeneLoc Exon Structure for
RMDN3

Expression for RMDN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RMDN3 Gene

Protein differential expression in normal tissues from HIPED for RMDN3 Gene

This gene is overexpressed in Nasal epithelium (38.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RMDN3 Gene



Protein tissue co-expression partners for RMDN3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RMDN3

SOURCE GeneReport for Unigene cluster for RMDN3 Gene:

Hs.511067

mRNA Expression by UniProt/SwissProt for RMDN3 Gene:

Q96TC7-RMD3_HUMAN
Tissue specificity: Present at high level in epidermis and seminiferous epithelium: while basal cells in the epidermis and spermatogonia show no perceptible amount, keratinocytes of suprabasal layers and differentiating first-order spermatocytes up to spermatids exhibit high expression. In skeletal muscle, its presence is restricted to fibers of the fast twitch type. In surface epithelia containing ciliated cells, it is associated with the microtubular structures responsible for ciliary movement. Also present in specific structures of the central nervous system such as neurons of the hippocampal region, ganglion cells of the autonomic nervous system, and axons of the peripheral nervous system (at protein level). Widely expressed.

Evidence on tissue expression from TISSUES for RMDN3 Gene

  • Nervous system(5)
  • Liver(4.4)
  • Kidney(2.8)
  • Muscle(2.4)
  • Lung(2.4)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with RMDN3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RMDN3 Gene

Orthologs for RMDN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for RMDN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM82A2 29 30
  • 99.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM82A2 29
  • 89.72 (n)
RMDN3 30
  • 89 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia RMDN3 29 30
  • 87.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rmdn3 29
  • 85.54 (n)
Mouse
(Mus musculus)
Mammalia Rmdn3 29 16 30
  • 84.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RMDN3 30
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RMDN3 30
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM82A2 29
  • 66.3 (n)
RMDN3 30
  • 59 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RMDN3 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rmdn3 29
  • 59.55 (n)
Zebrafish
(Danio rerio)
Actinopterygii rmdn3 29 30
  • 53.32 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea rmd-4 30
  • 27 (a)
ManyToMany
rmd-6 30
  • 27 (a)
ManyToMany
rmd-3 30
  • 26 (a)
ManyToMany
rmd-1 30
  • 23 (a)
ManyToMany
rmd-2 30
  • 22 (a)
ManyToMany
C16C8.18 30
  • 21 (a)
ManyToMany
rmd-5 30
  • 21 (a)
ManyToMany
sup-35 30
  • 18 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToMany
Species where no ortholog for RMDN3 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 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)
  • Wheat (Triticum aestivum)

Evolution for RMDN3 Gene

ENSEMBL:
Gene Tree for RMDN3 (if available)
TreeFam:
Gene Tree for RMDN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RMDN3: view image
Alliance of Genome Resources:
Additional Orthologs for RMDN3

Paralogs for RMDN3 Gene

Paralogs for RMDN3 Gene

(2) SIMAP similar genes for RMDN3 Gene using alignment to 5 proteins:

  • RMD3_HUMAN
  • H0YLG5_HUMAN
  • H0YLV7_HUMAN
  • H0YMB1_HUMAN
  • H0YNE5_HUMAN
genes like me logo Genes that share paralogs with RMDN3: view

Variants for RMDN3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RMDN3 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs11558807 -- p.Gln33His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RMDN3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for RMDN3 Gene

Variant ID Type Subtype PubMed ID
esv3305153 CNV mobile element insertion 20981092
esv3394772 CNV insertion 20981092
esv3450260 CNV insertion 20981092
nsv527234 CNV loss 19592680

Variation tolerance for RMDN3 Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RMDN3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMDN3
Leiden Open Variation Database (LOVD)
RMDN3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RMDN3 Gene

Disorders for RMDN3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RMDN3 Gene - From: COP

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 16, juvenile
  • als16
amyotrophic lateral sclerosis 8
  • als8
alzheimer disease 7
  • alzheimer disease, familial, 7
charcot-marie-tooth disease, axonal, type 2e
  • cmt2e
distal hereditary motor neuronopathy type 2
  • distal hereditary motor neuropathy type ii
- elite association - COSMIC cancer census association via MalaCards
Search RMDN3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RMDN3

genes like me logo Genes that share disorders with RMDN3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RMDN3 Gene

Publications for RMDN3 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. Identification of MOSPD2, a novel scaffold for endoplasmic reticulum membrane contact sites. (PMID: 29858488) Di Mattia T … Alpy F (EMBO reports 2018) 3 4
  3. ER-mitochondria signaling regulates autophagy. (PMID: 28548902) Gomez-Suaga P … Miller CCJ (Autophagy 2017) 2 3
  4. VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis. (PMID: 22131369) De Vos KJ … Miller CC (Human molecular genetics 2012) 3 4
  5. RMD-1, a novel microtubule-associated protein, functions in chromosome segregation in Caenorhabditis elegans. (PMID: 18070910) Oishi K … Sawa H (The Journal of cell biology 2007) 3 4

Products for RMDN3 Gene

Sources for RMDN3 Gene