Aliases for RMDN2 Gene

Aliases for RMDN2 Gene

  • Regulator Of Microtubule Dynamics 2 2 3 5
  • Family With Sequence Similarity 82, Member A1 2 3
  • Regulator Of Microtubule Dynamics Protein 2 3 4
  • FAM82A1 3 4
  • FAM82A 3 4
  • RMD-2 3 4
  • RMD2 2 3
  • Family With Sequence Similarity 82, Member A 3
  • Microtubule-Associated Protein 3
  • Protein FAM82A1 4
  • PRO34163 3
  • PYST9371 3
  • FLJ32954 2
  • BLOCK18 3
  • HRMD-2 4
  • RMDN2 5
  • RMD4 3

External Ids for RMDN2 Gene

Previous HGNC Symbols for RMDN2 Gene

  • FAM82A
  • FAM82A1

Previous GeneCards Identifiers for RMDN2 Gene

  • GC02P038151

Summaries for RMDN2 Gene

GeneCards Summary for RMDN2 Gene

RMDN2 (Regulator Of Microtubule Dynamics 2) is a Protein Coding gene. Diseases associated with RMDN2 include Primary Congenital Glaucoma and Glaucoma 3, Primary Congenital, A.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RMDN2 Gene

Genomics for RMDN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RMDN2 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
GH02J037921 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 265.7 +3.4 3374 5.7 BCLAF1 IKZF1 MYC ZMYM3 KLF9 POLR2A CEBPA YY1 MXD4 CTCF RMDN2 HSALNG0014285 ENSG00000272054 SRSF7 CYP1B1 lnc-RMDN2-5
GH02J037918 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 255.7 -1.0 -954 2.9 CEBPA ATF3 CHD4 YY1 KLF11 ZNF341 ZFP64 HOMEZ KMT2B THAP11 RMDN2 lnc-RMDN2-5 HNRNPLL DHX57 piR-35031-024 CDC42EP3
GH02J037770 Promoter/Enhancer 1.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 250.1 -149.0 -148988 2 JUND POLR2A FOS lnc-RMDN2-3 RMDN2 CDC42EP3 ENSG00000225402 HSALNG0014269 LOC107985869
GH02J037950 Promoter 0.3 EPDnew 260.4 +29.7 29656 0.1 RMDN2 piR-54764-354 piR-50308-350 RMDN2-AS1 CYP1B1
GH02J038070 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 7.8 +153.4 153434 7.6 BCLAF1 SP1 ZNF600 POLR2A ZNF223 ZIC2 ZBTB10 YY1 BCL11A TARDBP CYP1B1 CYP1B1-AS1 ENSG00000272054 SRSF7 CEBPZ HEATR5B DHX57 RMDN2 RMDN2-AS1 piR-30444-140
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RMDN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RMDN2

Genomic Locations for RMDN2 Gene

Latest Assembly
chr2:37,920,789-38,069,246
(GRCh38/hg38)
Size:
148,458 bases
Orientation:
Plus strand

Previous Assembly
chr2:38,152,430-38,294,281
(GRCh37/hg19 by Entrez Gene)
Size:
141,852 bases
Orientation:
Plus strand

chr2:38,150,330-38,294,285
(GRCh37/hg19 by Ensembl)
Size:
143,956 bases
Orientation:
Plus strand

Genomic View for RMDN2 Gene

Genes around RMDN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RMDN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RMDN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RMDN2 Gene

Proteins for RMDN2 Gene

  • Protein details for RMDN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96LZ7-RMD2_HUMAN
    Recommended name:
    Regulator of microtubule dynamics protein 2
    Protein Accession:
    Q96LZ7
    Secondary Accessions:
    • A9UMZ7
    • A9UN00
    • Q4ZG33
    • Q6UXN4
    • Q8N657
    • Q8N9A2
    • Q8NCV6
    • Q8NHM0

    Protein attributes for RMDN2 Gene

    Size:
    410 amino acids
    Molecular mass:
    47399 Da
    Quaternary structure:
    • Interacts with microtubules.
    SequenceCaution:
    • Sequence=AAM81211.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for RMDN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RMDN2 Gene

Post-translational modifications for RMDN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RMDN2 Gene

Domains & Families for RMDN2 Gene

Gene Families for RMDN2 Gene

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

Protein Domains for RMDN2 Gene

Suggested Antigen Peptide Sequences for RMDN2 Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM82A1 (RMD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96LZ7

UniProtKB/Swiss-Prot:

RMD2_HUMAN :
  • Belongs to the RMDN family.
Family:
  • Belongs to the RMDN family.
genes like me logo Genes that share domains with RMDN2: view

Function for RMDN2 Gene

Phenotypes From GWAS Catalog for RMDN2 Gene

Gene Ontology (GO) - Molecular Function for RMDN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0008017 microtubule binding IDA 18070910
genes like me logo Genes that share ontologies with RMDN2: view
genes like me logo Genes that share phenotypes with RMDN2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RMDN2

Clone products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RMDN2 Gene

Localization for RMDN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RMDN2 Gene

Membrane. Single-pass membrane protein. Cytoplasm. 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. Also detected as large dots in the perinuclear region.

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 RMDN2 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
golgi apparatus 4
mitochondrion 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitotic spindle (3)
  • Golgi apparatus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RMDN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005739 mitochondrion IBA 21873635
GO:0005794 Golgi apparatus IDA --
GO:0005819 spindle IEA --
genes like me logo Genes that share ontologies with RMDN2: view

Pathways & Interactions for RMDN2 Gene

PathCards logo

SuperPathways for RMDN2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RMDN2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for RMDN2 Gene

Drugs & Compounds for RMDN2 Gene

No Compound Related Data Available

Transcripts for RMDN2 Gene

mRNA/cDNA for RMDN2 Gene

6 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
12 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 RMDN2

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for RMDN2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16
SP1: - - - -
SP2: - - - - - -
SP3: - - - -
SP4: - -
SP5: - - - -
SP6: - - - -

Relevant External Links for RMDN2 Gene

GeneLoc Exon Structure for
RMDN2

Expression for RMDN2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RMDN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RMDN2 Gene

This gene is overexpressed in Adrenal Gland (x6.6).

Protein differential expression in normal tissues from HIPED for RMDN2 Gene

This gene is overexpressed in Bone (19.4), Adrenal (15.0), and Liver (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RMDN2 Gene



Protein tissue co-expression partners for RMDN2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RMDN2

SOURCE GeneReport for Unigene cluster for RMDN2 Gene:

Hs.591566

Evidence on tissue expression from TISSUES for RMDN2 Gene

  • Nervous system(4.3)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with RMDN2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RMDN2 Gene

Orthologs for RMDN2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RMDN2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM82A1 29
  • 99.43 (n)
RMDN2 30
  • 90 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM82A1 29
  • 89.19 (n)
RMDN2 30
  • 54 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rmdn2 29
  • 81.63 (n)
Mouse
(Mus musculus)
Mammalia Rmdn2 29 16 30
  • 81.46 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RMDN2 30
  • 47 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RMDN2 30
  • 39 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RMDN2 30
  • 37 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM82A1 29
  • 64.79 (n)
RMDN2 30
  • 35 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia RMDN2 30
  • 34 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rmdn2 29
  • 60.95 (n)
Zebrafish
(Danio rerio)
Actinopterygii RMDN2 30
  • 27 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea rmd-6 30
  • 26 (a)
ManyToMany
rmd-4 30
  • 25 (a)
ManyToMany
rmd-3 30
  • 25 (a)
ManyToMany
rmd-1 30
  • 24 (a)
ManyToMany
C16C8.18 30
  • 22 (a)
ManyToMany
rmd-5 30
  • 21 (a)
ManyToMany
rmd-2 30
  • 19 (a)
ManyToMany
sup-35 30
  • 15 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 33 (a)
OneToMany
Species where no ortholog for RMDN2 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 RMDN2 Gene

ENSEMBL:
Gene Tree for RMDN2 (if available)
TreeFam:
Gene Tree for RMDN2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RMDN2: view image
Alliance of Genome Resources:
Additional Orthologs for RMDN2

Paralogs for RMDN2 Gene

(2) SIMAP similar genes for RMDN2 Gene using alignment to 6 proteins:

  • RMD2_HUMAN
  • B5MC85_HUMAN
  • C9JGB2_HUMAN
  • C9JUD5_HUMAN
  • F8WFC3_HUMAN
  • H7C2J3_HUMAN
genes like me logo Genes that share paralogs with RMDN2: view

No data available for Paralogs for RMDN2 Gene

Variants for RMDN2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RMDN2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
894966 Uncertain Significance: Irido-corneo-trabecular dysgenesis; Glaucoma 3, primary congenital, A 38,067,962(+) G/T
NM_000104.4(CYP1B1):c.*2760C>A
THREE_PRIME_UTR
894967 Uncertain Significance: Irido-corneo-trabecular dysgenesis; Glaucoma 3, primary congenital, A 38,068,125(+) T/C
NM_000104.4(CYP1B1):c.*2597A>G
THREE_PRIME_UTR
895026 Uncertain Significance: Irido-corneo-trabecular dysgenesis; Glaucoma 3, primary congenital, A 38,068,812(+) T/C
NM_000104.4(CYP1B1):c.*1910A>G
THREE_PRIME_UTR
895027 Uncertain Significance: Irido-corneo-trabecular dysgenesis; Glaucoma 3, primary congenital, A 38,068,814(+) C/T
NM_000104.4(CYP1B1):c.*1908G>A
THREE_PRIME_UTR
896404 Uncertain Significance: Irido-corneo-trabecular dysgenesis; Glaucoma 3, primary congenital, A 38,068,224(+) A/G
NM_000104.4(CYP1B1):c.*2498T>C
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for RMDN2 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 RMDN2 Gene

Variant ID Type Subtype PubMed ID
dgv6787n54 CNV loss 21841781
esv2659660 CNV deletion 23128226
esv2671607 CNV deletion 23128226
esv2719941 CNV deletion 23290073
esv2762251 CNV loss 21179565
esv3590412 CNV loss 21293372
nsv516007 CNV gain+loss 19592680
nsv963223 CNV duplication 23825009

Variation tolerance for RMDN2 Gene

Residual Variation Intolerance Score: 89.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.89; 59.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RMDN2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RMDN2
Leiden Open Variation Database (LOVD)
RMDN2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RMDN2 Gene

Disorders for RMDN2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RMDN2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
primary congenital glaucoma
glaucoma 3, primary congenital, a
  • glc3a
fusariosis
  • fusarium infection
cone-rod dystrophy 6
  • cord6
- elite association - COSMIC cancer census association via MalaCards
Search RMDN2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RMDN2

genes like me logo Genes that share disorders with RMDN2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RMDN2 Gene

Publications for RMDN2 Gene

  1. 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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) 3 4
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for RMDN2 Gene

Sources for RMDN2 Gene