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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. Gene Ontology (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).

Additional gene information for ERMN Gene

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

GeneHancer (GH) Regulatory Elements for ERMN Gene

Promoters and enhancers for ERMN 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
GH02J157327 Enhancer 1.1 Ensembl ENCODE dbSUPER 650.7 -0.3 -286 1.1 CTCF IRF4 ZNF48 RAD21 CHAMP1 CTBP1 SMC3 ZNF143 NFE2 ZNF444 ERMN GC02M157348
GH02J157325 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.7 +1.9 1876 0.1 ERMN RN7SKP281
GH02J157326 Enhancer 0.5 ENCODE dbSUPER 650.7 +1.7 1729 0.2 EZH2 ERMN RN7SKP281
GH02J157410 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -89.0 -88962 11.7 PKNOX1 ATF1 SMAD1 BMI1 BATF YY1 ZNF207 ETV6 ATF7 BCLAF1 CYTIP ACVR1 FAM133DP ERMN GPD2 LOC105373711 GC02M157436
GH02J157485 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 10.6 -159.8 -159849 3.9 FOXA2 MAX FEZF1 RAD21 ZFHX2 EGR2 RXRA REST ZNF843 FOXA1 CYTIP ERMN LOC105373712 GC02M157436
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERMN on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ERMN Gene

Genomic Locations for ERMN Gene
chr2:157,318,613-157,327,713
(GRCh38/hg38)
Size:
9,101 bases
Orientation:
Minus strand
chr2:158,175,125-158,184,225
(GRCh37/hg19)

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

Gene Families for ERMN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 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

CRISPR Products

miRNA for ERMN Gene

miRTarBase miRNAs that target ERMN

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ERMN Gene

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.ENSP00000298746%0d%0a
Selected Interacting proteins: Q8TAM6-ERMIN_HUMAN ENSP00000380453 for ERMN Gene via IID STRING

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 IEA,IDA 20934411
GO:0008360 regulation of cell shape IDA,IEA 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:

CRISPR Products

Inhibitory RNA Products

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

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 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

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 33
  • 99.3 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERMN 34 33
  • 84.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ERMN 34 33
  • 83.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ermn 16 34 33
  • 74.13 (n)
rat
(Rattus norvegicus)
Mammalia Ermn 33
  • 72.86 (n)
oppossum
(Monodelphis domestica)
Mammalia ERMN 34
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERMN 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERMN 34
  • 33 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ERMN 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ERMN: view image

Paralogs for ERMN Gene

(12) SIMAP similar genes for ERMN Gene using alignment to 9 proteins:

  • ERMIN_HUMAN
  • B4DIZ1_HUMAN
  • B4DKB4_HUMAN
  • B8ZZ94_HUMAN
  • C9J6B4_HUMAN
  • C9J8X3_HUMAN
  • C9JN04_HUMAN
  • F8WAQ2_HUMAN
  • L8E8L0_HUMAN
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 Variation AA Info Type
rs1000066472 -- 157,322,605(-) C/T intron_variant
rs1000097069 -- 157,322,862(-) G/C intron_variant
rs1000145719 -- 157,321,325(-) T/C coding_sequence_variant, synonymous_variant
rs1000259641 -- 157,329,021(-) A/C upstream_transcript_variant
rs1000284710 -- 157,322,263(-) C/T 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)

Additional Variant Information for ERMN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ERMN Gene

Additional Disease Information for ERMN

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

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 (The Journal of neuroscience : the official journal of the Society for Neuroscience 2006) 2 3 4 58
  2. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. (PMID: 20468071) Dick DM … Bierut L (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 44 58
  3. Juxtanodin: an oligodendroglial protein that promotes cellular arborization and 2',3'-cyclic nucleotide-3'-phosphodiesterase trafficking. (PMID: 16051705) Zhang B … Liang F (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3 58
  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 research : an international journal for rapid publication of reports on genes and genomes 1999) 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 ERMN Gene

Sources for ERMN Gene

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