ERMN ermin [Homo sapiens (human)] - Gene

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: mouse all
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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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression Analysis of Ermin and Listerin E3 Ubiquitin Protein Ligase 1 Genes in the Periphery of Patients with Schizophrenia.
Title: Expression Analysis of Ermin and Listerin E3 Ubiquitin Protein Ligase 1 Genes in the Periphery of Patients with Schizophrenia.
The results showed a significant decrease in ERMN expression in patients with relapsing-remitting multiple sclerosis compared with controls. The reduction in ERMN expression in leukocytes could be the cause of demyelinating process in RR-MS patients.
Title: Down-regulation of ERMN expression in relapsing remitting multiple sclerosis.
this study suggested a role for hErmin as a novel cytoskeleton-related oligodendroglial protein in human brain myelination and human epileptogenesis, and provide new evidence for the relationship between oligodendrocytes and epilepsy.
Title: Human Ermin (hErmin), a new oligodendrocyte-specific cytoskeletal protein related to epileptic seizure.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.
Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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 more info	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

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Preferred Names: ermin

Names: ermin, ERM-like protein; juxtanodin

NCBI Reference Sequences (RefSeq)

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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)

NM_001009959.3 → NP_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:277 → 294

ERM; Ezrin/radixin/moesin family
NM_001304344.2 → NP_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:264 → 281

ERM; Ezrin/radixin/moesin family
NM_001304345.2 → NP_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:264 → 281

ERM; Ezrin/radixin/moesin family
NM_001304346.2 → NP_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:244 → 261

ERM; Ezrin/radixin/moesin family
NM_020711.3 → NP_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:264 → 281

ERM; Ezrin/radixin/moesin family