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ERMN ermin [ Homo sapiens (human) ]

Gene ID: 57471, updated on 5-Aug-2022

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
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Genomic context

See ERMN in Genome Data Viewer
Location:
2q24.1
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (157318631..157327712, complement)
110 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 polypeptide N-acetylgalactosaminyltransferase 5 Neighboring gene RN7SK pseudogene 281 Neighboring gene family with sequence similarity 133, member A pseudogene Neighboring gene cytohesin 1 interacting protein

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

Homology

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
PubMed 
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
PubMed 
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
PubMed 
involved_in regulation of cell projection organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in paranode region of axon IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
    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
    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/Swiss-Prot
    Q8TAM6
    UniProtKB/TrEMBL
    B4DIZ1
    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
    Q8TAM6, Q9ULN1
    Related
    ENSP00000387047.1, ENST00000410096.6
    Conserved Domains (1) summary
    cl25742
    Location:264281
    ERM; Ezrin/radixin/moesin family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)