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Aliases for ERMN Gene

Aliases for ERMN Gene

  • Ermin 2 3 3 5
  • Juxtanodin 2 3 4
  • KIAA1189 2 3 4
  • Ermin, ERM-Like Protein 2 3
  • JN 3 4

External Ids for ERMN Gene

Previous HGNC Symbols for ERMN Gene

  • KIAA1189

Previous GeneCards Identifiers for ERMN Gene

  • GC02M157884
  • GC02M158175
  • GC02M150060

Summaries for ERMN Gene

GeneCards Summary for ERMN Gene

ERMN (Ermin) is a Protein Coding gene. GO annotations related to this gene include actin binding and actin filament binding.

UniProtKB/Swiss-Prot for ERMN Gene

  • Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERMN Gene

Genomics for ERMN Gene

Regulatory Elements for ERMN Gene

Enhancers for ERMN 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
GH02G157410 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -89.0 -88962 11.7 TBP PKNOX1 FOXA2 ATF1 TBL1XR1 NFIB BMI1 YY1 CBX5 ZNF207 CYTIP ERMN GPD2 ACVR1 LOC105373711 GC02M157436
GH02G157479 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.4 -152.5 -152548 1.9 HDAC1 TBP WRNIP1 RAD21 RFX5 YY1 TCF12 GATA2 USF2 GATAD2B ERMN ACVR1C CYTIP GC02M157436
GH02G157463 1.5 FANTOM5 ENCODE dbSUPER 10.7 -136.4 -136444 1.5 HDAC1 CBX3 PKNOX1 ATF1 TBL1XR1 ARNT NFRKB CHAMP1 TCF12 ZNF766 CYTIP ERMN ACVR1 GC02M157436
GH02G157402 1.3 Ensembl ENCODE dbSUPER 11.5 -76.2 -76213 2.1 PKNOX1 TBL1XR1 BACH1 EBF1 ARID3A CBX5 EED RELB ETV6 IKZF2 ERMN CYTIP LOC105373711 FAM133DP
GH02G157485 1 ENCODE dbSUPER 10.5 -159.9 -159850 3.9 PKNOX1 MAX FEZF1 RAD21 ZKSCAN1 YY1 ZFHX2 FOS EGR2 ZNF843 ERMN CYTIP GC02M157436
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERMN on UCSC Golden Path with GeneCards custom track

Genomic Location for ERMN Gene

Chromosome:
2
Start:
157,318,613 bp from pter
End:
157,327,713 bp from pter
Size:
9,101 bases
Orientation:
Minus strand

Genomic View for ERMN Gene

Genes around ERMN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ERMN Gene

Proteins for ERMN Gene

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

    Protein Symbol:
    Q8TAM6-ERMIN_HUMAN
    Recommended name:
    Ermin
    Protein Accession:
    Q8TAM6
    Secondary Accessions:
    • B4DKA6
    • Q9ULN1

    Protein attributes for ERMN Gene

    Size:
    284 amino acids
    Molecular mass:
    32783 Da
    Quaternary structure:
    • Binds actin.
    SequenceCaution:
    • Sequence=BAA86503.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ERMN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERMN Gene

Post-translational modifications for ERMN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ERMN Gene

Domains & Families for ERMN Gene

Protein Domains for ERMN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ERMN Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families and UniProtKB/Swiss-Prot for ERMN Gene

Function for ERMN Gene

Molecular function for ERMN Gene

UniProtKB/Swiss-Prot Function:
Plays a role in cytoskeletal rearrangements during the late wrapping and/or compaction phases of myelinogenesis as well as in maintenance and stability of myelin sheath in the adult. May play an important role in late-stage oligodendroglia maturation, myelin/Ranvier node formation during CNS development, and in the maintenance and plasticity of related structures in the mature CNS (By similarity).

Gene Ontology (GO) - Molecular Function for ERMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0051015 actin filament binding IEA --
genes like me logo Genes that share ontologies with ERMN: view
genes like me logo Genes that share phenotypes with ERMN: view

Animal Model Products

miRNA for ERMN Gene

miRTarBase miRNAs that target ERMN

Inhibitory RNA Products

Clone Products

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

Localization for ERMN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERMN Gene

Cytoplasm, cytoskeleton.

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 ERMN gene
Compartment Confidence
extracellular 5
cytoskeleton 4
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for ERMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 20934411
GO:0005856 cytoskeleton IEA --
GO:0005938 cell cortex IDA 20934411
GO:0030175 filopodium IEA --
GO:0033269 internode region of axon IDA 20934411
genes like me logo Genes that share ontologies with ERMN: view

Pathways & Interactions for ERMN Gene

No Data Available

Interacting Proteins for ERMN Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000380453%0d%0a9606.ENSP00000356290%0d%0a9606.ENSP00000450560%0d%0a9606.ENSP00000363313%0d%0a9606.ENSP00000311899%0d%0a9606.ENSP00000358563%0d%0a
Selected Interacting proteins: ENSP00000380453 Q8TAM6-ERMIN_HUMAN for ERMN Gene via STRING IID

Gene Ontology (GO) - Biological Process for ERMN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001763 morphogenesis of a branching structure IEA --
GO:0007015 actin filament organization IDA 20934411
GO:0008360 regulation of cell shape IDA 20934411
GO:0031344 regulation of cell projection organization IDA 20934411
genes like me logo Genes that share ontologies with ERMN: view

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

Drugs & Compounds for ERMN Gene

No Compound Related Data Available

Transcripts for ERMN Gene

Unigene Clusters for ERMN Gene

Ermin, ERM-like protein:
Representative Sequences:

Inhibitory RNA Products

Clone Products

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

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c · 7d · 7e · 7f
SP1: - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - - -
SP8: - - -
SP9:
SP10: - -

Relevant External Links for ERMN Gene

GeneLoc Exon Structure for
ERMN
ECgene alternative splicing isoforms for
ERMN

Expression for ERMN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x15.4), Brain - Substantia nigra (x8.0), Brain - Hippocampus (x5.8), Brain - Amygdala (x4.6), and Brain - Putamen (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for ERMN Gene

This gene is overexpressed in Brain (45.6) and Spinal cord (9.1).

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



Protein tissue co-expression partners for ERMN Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERMN Gene:

ERMN

SOURCE GeneReport for Unigene cluster for ERMN Gene:

Hs.443894

mRNA Expression by UniProt/SwissProt for ERMN Gene:

Q8TAM6-ERMIN_HUMAN
Tissue specificity: Highly expressed in adult and fetal brain. Expressed at intermediate levels in the lung and liver.

Evidence on tissue expression from TISSUES for ERMN Gene

  • Nervous system(5)
genes like me logo Genes that share expression patterns with ERMN: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ERMN Gene

Orthologs for ERMN Gene

This gene was present in the common ancestor of chordates.

Orthologs for ERMN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERMN 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia ERMN 34 35
  • 84.45 (n)
cow
(Bos Taurus)
Mammalia ERMN 34 35
  • 83.92 (n)
mouse
(Mus musculus)
Mammalia Ermn 34 16 35
  • 74.13 (n)
rat
(Rattus norvegicus)
Mammalia Ermn 34
  • 72.86 (n)
oppossum
(Monodelphis domestica)
Mammalia ERMN 35
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERMN 35
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERMN 35
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERMN 35
  • 43 (a)
OneToOne
Species where no ortholog for ERMN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ERMN Gene

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

Paralogs for ERMN Gene

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

No data available for Paralogs for ERMN Gene

Variants for ERMN Gene

Sequence variations from dbSNP and Humsavar for ERMN Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000066472 -- 157,322,605(+) TTCCT(C/T)TTTGT intron-variant
rs1000097069 -- 157,322,862(+) CTTAT(C/G)CTTTG intron-variant
rs1000145719 -- 157,321,325(+) CCCTT(C/T)CTGAT reference, synonymous-codon
rs1000259641 -- 157,329,021(+) TATAA(A/C)GAATC upstream-variant-2KB
rs1000284710 -- 157,322,263(+) ACACA(C/T)ACACA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2518040 CNV deletion 19546169
nsv1011505 CNV gain 25217958
nsv834432 CNV gain 17160897

Variation tolerance for ERMN Gene

Residual Variation Intolerance Score: 70.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERMN Gene

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

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

Disorders for ERMN Gene

Relevant External Links for ERMN

Genetic Association Database (GAD)
ERMN
Human Genome Epidemiology (HuGE) Navigator
ERMN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERMN

No disorders were found for ERMN Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ERMN Gene

Publications for ERMN Gene

  1. Ermin, a myelinating oligodendrocyte-specific protein that regulates cell morphology. (PMID: 16421295) Brockschnieder D. … Peles E. (J. Neurosci. 2006) 2 3 4 64
  2. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick D.M. … Bierut L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  3. Juxtanodin: an oligodendroglial protein that promotes cellular arborization and 2',3'-cyclic nucleotide-3'-phosphodiesterase trafficking. (PMID: 16051705) Zhang B. … Liang F. (Proc. Natl. Acad. Sci. U.S.A. 2005) 2 3 64
  4. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 3 4 64
  5. Human Ermin (hErmin), a new oligodendrocyte-specific cytoskeletal protein related to epileptic seizure. (PMID: 20934411) Wang T. … Zhang B. (Brain Res. 2011) 3 64

Products for ERMN Gene

Sources for ERMN Gene

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