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    ERMN ermin [ Homo sapiens (human) ]

    Gene ID: 57471, updated on 5-Mar-2024

    Summary

    Official Symbol
    ERMNprovided by HGNC
    Official Full Name
    erminprovided by HGNC
    Primary source
    HGNC:HGNC:29208
    See related
    Ensembl:ENSG00000136541 MIM:610072; AllianceGenome:HGNC:29208
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    JN; KIAA1189
    Summary
    Predicted to enable actin filament binding activity. Involved in actin filament organization; regulation of cell projection organization; and regulation of cell shape. Located in cell cortex; internode region of axon; and paranode region of axon. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward brain (RPKM 77.3) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2q24.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (157318631..157327712, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (157771771..157780852, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (158175143..158184224, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cyclin dependent kinase 7 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:158102473-158103672 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12024 Neighboring gene RN7SK pseudogene 281 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:158182220-158182769 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:158202021-158202873 Neighboring gene family with sequence similarity 133, member A pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16670 Neighboring gene cytohesin 1 interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16675

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1189

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in actin filament organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in morphogenesis of a branching structure IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell projection organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell projection organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell shape IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of cell shape IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cell cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular exosome HDA PubMed 
    is_active_in filopodium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in glial cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in internode region of axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in internode region of axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in myelin sheath IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in neuronal cell body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in paranode region of axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in paranode region of axon IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ermin
    Names
    ermin, ERM-like protein
    juxtanodin

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001009959.3NP_001009959.1  ermin isoform a

      See identical proteins and their annotated locations for NP_001009959.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AB033015, AK296477, DB576268, DC322056
      Consensus CDS
      CCDS42764.1
      UniProtKB/Swiss-Prot
      Q8TAM6
      Related
      ENSP00000380453.2, ENST00000397283.6
      Conserved Domains (1) summary
      pfam00769
      Location:277294
      ERM; Ezrin/radixin/moesin family
    2. NM_001304344.2NP_001291273.1  ermin isoform b

      See identical proteins and their annotated locations for NP_001291273.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AB033015, DA248817, DA288720, DB576268
      Consensus CDS
      CCDS46431.1
      UniProtKB/Swiss-Prot
      B4DKA6, Q8TAM6, Q9ULN1
      Conserved Domains (1) summary
      cl25742
      Location:264281
      ERM; Ezrin/radixin/moesin family
    3. NM_001304345.2NP_001291274.1  ermin isoform b

      See identical proteins and their annotated locations for NP_001291274.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AB033015, DA248817, DB576268
      Consensus CDS
      CCDS46431.1
      UniProtKB/Swiss-Prot
      B4DKA6, Q8TAM6, Q9ULN1
      Conserved Domains (1) summary
      cl25742
      Location:264281
      ERM; Ezrin/radixin/moesin family
    4. NM_001304346.2NP_001291275.1  ermin isoform c

      See identical proteins and their annotated locations for NP_001291275.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (c) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AB033015, AK295844, DB576268
      Consensus CDS
      CCDS77475.1
      UniProtKB/TrEMBL
      B4DHD9, B4DIZ1, E7ET69
      Related
      ENSP00000410646.2, ENST00000420719.6
      Conserved Domains (1) summary
      pfam00769
      Location:244261
      ERM; Ezrin/radixin/moesin family
    5. NM_020711.3NP_065762.1  ermin isoform b

      See identical proteins and their annotated locations for NP_065762.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 2, 3, and 4 all encode the same isoform (b).
      Source sequence(s)
      AB033015, DB576268, DC343891
      Consensus CDS
      CCDS46431.1
      UniProtKB/Swiss-Prot
      B4DKA6, Q8TAM6, Q9ULN1
      Related
      ENSP00000387047.1, ENST00000410096.6
      Conserved Domains (1) summary
      cl25742
      Location:264281
      ERM; Ezrin/radixin/moesin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      157318631..157327712 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      157771771..157780852 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)