Human Gene ERMN (ENST00000410096.6) from GENCODE V44
  Description: Homo sapiens ermin (ERMN), transcript variant 2, mRNA. (from RefSeq NM_020711)
Gencode Transcript: ENST00000410096.6
Gencode Gene: ENSG00000136541.15
Transcript (Including UTRs)
   Position: hg38 chr2:157,318,631-157,325,824 Size: 7,194 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr2:157,321,271-157,325,642 Size: 4,372 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:157,318,631-157,325,824)mRNA (may differ from genome)Protein (284 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ERMIN_HUMAN
DESCRIPTION: RecName: Full=Ermin; AltName: Full=Juxtanodin; Short=JN;
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).
SUBUNIT: Binds actin (By similarity).
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton (By similarity).
TISSUE SPECIFICITY: Highly expressed in adult and fetal brain. Expressed at intermediate levels in the lung and liver.
SEQUENCE CAUTION: Sequence=BAA86503.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 258.09 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 774.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.30182-0.221 Picture PostScript Text
3' UTR -640.302640-0.243 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  ModBase Predicted Comparative 3D Structure on Q8TAM6
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0051015 actin filament binding

Biological Process:
GO:0001763 morphogenesis of a branching structure
GO:0007015 actin filament organization
GO:0008360 regulation of cell shape
GO:0031344 regulation of cell projection organization

Cellular Component:
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0005938 cell cortex
GO:0030175 filopodium
GO:0033269 internode region of axon
GO:0033270 paranode region of axon
GO:0043025 neuronal cell body
GO:0043209 myelin sheath
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  JD093299 - Sequence 74323 from Patent EP1572962.
AB033015 - Homo sapiens KIAA1189 mRNA for KIAA1189 protein.
JD093625 - Sequence 74649 from Patent EP1572962.
JD326960 - Sequence 307984 from Patent EP1572962.
JD363729 - Sequence 344753 from Patent EP1572962.
JD557187 - Sequence 538211 from Patent EP1572962.
JD334308 - Sequence 315332 from Patent EP1572962.
JD331352 - Sequence 312376 from Patent EP1572962.
JD334309 - Sequence 315333 from Patent EP1572962.
JD285299 - Sequence 266323 from Patent EP1572962.
JD083753 - Sequence 64777 from Patent EP1572962.
JD244816 - Sequence 225840 from Patent EP1572962.
JD307826 - Sequence 288850 from Patent EP1572962.
JD465165 - Sequence 446189 from Patent EP1572962.
JD280513 - Sequence 261537 from Patent EP1572962.
JD176067 - Sequence 157091 from Patent EP1572962.
JD239607 - Sequence 220631 from Patent EP1572962.
JD052825 - Sequence 33849 from Patent EP1572962.
JD553570 - Sequence 534594 from Patent EP1572962.
JD382107 - Sequence 363131 from Patent EP1572962.
JD504334 - Sequence 485358 from Patent EP1572962.
JD151541 - Sequence 132565 from Patent EP1572962.
JD350530 - Sequence 331554 from Patent EP1572962.
JD037337 - Sequence 18361 from Patent EP1572962.
BC026345 - Homo sapiens ermin, ERM-like protein, mRNA (cDNA clone MGC:26669 IMAGE:4798869), complete cds.
JD046785 - Sequence 27809 from Patent EP1572962.
JD050112 - Sequence 31136 from Patent EP1572962.
JD096594 - Sequence 77618 from Patent EP1572962.
JD298242 - Sequence 279266 from Patent EP1572962.
AK295051 - Homo sapiens cDNA FLJ54294 complete cds.
JD560286 - Sequence 541310 from Patent EP1572962.
AK296477 - Homo sapiens cDNA FLJ55756 complete cds.
JD426913 - Sequence 407937 from Patent EP1572962.
JD110840 - Sequence 91864 from Patent EP1572962.
AK296489 - Homo sapiens cDNA FLJ59917 complete cds.
AK295844 - Homo sapiens cDNA FLJ54268 complete cds.
JD289772 - Sequence 270796 from Patent EP1572962.
DQ334271 - Homo sapiens ermin mRNA, complete cds.
CU693224 - Synthetic construct Homo sapiens gateway clone IMAGE:100018723 5' read KIAA1189 mRNA.
HQ447390 - Synthetic construct Homo sapiens clone IMAGE:100070711; CCSB001128_01 KIAA1189 (ERMN) gene, encodes complete protein.
KJ894431 - Synthetic construct Homo sapiens clone ccsbBroadEn_03825 ERMN gene, encodes complete protein.
AB384578 - Synthetic construct DNA, clone: pF1KA1189, Homo sapiens KIAA1189 gene for KIAA1189 protein, complete cds, without stop codon, in Flexi system.
JD249391 - Sequence 230415 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B4DKA6, ENST00000410096.1, ENST00000410096.2, ENST00000410096.3, ENST00000410096.4, ENST00000410096.5, ERMIN_HUMAN, KIAA1189, NM_020711, Q8TAM6, Q9ULN1, uc002tzh.1, uc002tzh.2, uc002tzh.3, uc002tzh.4, uc002tzh.5
UCSC ID: ENST00000410096.6
RefSeq Accession: NM_020711
Protein: Q8TAM6 (aka ERMIN_HUMAN)
CCDS: CCDS42764.1, CCDS46431.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.