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ERICH2 glutamate rich 2 [ Homo sapiens (human) ]

Gene ID: 285141, updated on 5-Mar-2024

Summary

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Official Symbol
ERICH2provided by HGNC
Official Full Name
glutamate rich 2provided by HGNC
Primary source
HGNC:HGNC:44395
See related
Ensembl:ENSG00000204334 AllianceGenome:HGNC:44395
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
Expression
Biased expression in testis (RPKM 9.3), thyroid (RPKM 2.2) and 4 other tissues See more
Orthologs
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Genomic context

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Location:
2q31.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (170770378..170798977)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (171247505..171276133)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (171626888..171655487)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ERICH2 divergent transcript Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:171571431-171572220 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:171572221-171573008 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:171573009-171573798 Neighboring gene Sharpr-MPRA regulatory region 1892 Neighboring gene Sp5 transcription factor Neighboring gene eukaryotic translation initiation factor 2 subunit 2 beta pseudogene 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12093 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_55930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:171674788-171675311 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:171675312-171675834 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:171679351-171680150 Neighboring gene glutamate decarboxylase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16744 Neighboring gene Sharpr-MPRA regulatory region 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12094 Neighboring gene golgi reassembly stacking protein 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Creation of genome-wide protein expression libraries using random activation of gene expression. Harrington JJ, et al. Nat Biotechnol, 2001 May. PMID 11329013
  2. Gsk3β and Tomm20 are substrates of the SCFFbxo7/PARK15 ubiquitin ligase associated with Parkinson's disease. Teixeira FR, et al. Biochem J, 2016 Oct 15. PMID 27503909, Free PMC Article
  3. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
  4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (6) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • AC007405.6

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
glutamate-rich protein 2

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)

  1. NM_001289947.2 → NP_001276876.1  glutamate-rich protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001276876.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, has multiple coding region differences, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC007405, BC127676, BQ429225
    Consensus CDS
    CCDS77486.1
    UniProtKB/Swiss-Prot
    A1L162, A7E2T7
    Related
    ENSP00000387298.1, ENST00000409885.1

  2. NM_001290030.2 → NP_001276959.1  glutamate-rich protein 2 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AC007405
    Consensus CDS
    CCDS92894.1
    UniProtKB/TrEMBL
    A0A8V8TMA0
    Related
    ENSP00000513252.1, ENST00000697325.1
    Conserved Domains (1) summary
    PHA03247
    Location:34 → 145
    PHA03247; large tegument protein UL36; Provisional

  3. NM_001290031.1 → NP_001276960.1  glutamate-rich protein 2 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC007405, BG215457
    Conserved Domains (1) summary
    PHA03247
    Location:34 → 145
    PHA03247; large tegument protein UL36; Provisional

  4. NM_001388467.1 → NP_001375396.1  glutamate-rich protein 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC007405
    Consensus CDS
    CCDS92895.1
    UniProtKB/TrEMBL
    A0A8V8TMB5

  5. NM_001388468.1 → NP_001375397.1  glutamate-rich protein 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC007405
    Consensus CDS
    CCDS92895.1
    UniProtKB/TrEMBL
    A0A8V8TMB5

  6. NM_001388469.1 → NP_001375398.1  glutamate-rich protein 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC007405

  7. NM_001388470.1 → NP_001375399.1  glutamate-rich protein 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC007405

  8. NM_001388471.1 → NP_001375400.1  glutamate-rich protein 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC007405
    Conserved Domains (1) summary
    PHA03247
    Location:34 → 145
    PHA03247; large tegument protein UL36; Provisional

RNA

  1. NR_110644.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC007405, BG215457

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
    170770378..170798977
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443999.1 → XP_047299955.1  glutamate-rich protein 2 isoform X2

  2. XM_017003875.2 → XP_016859364.1  glutamate-rich protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A8V8TMA0
    Conserved Domains (1) summary
    PHA03247
    Location:34 → 145
    PHA03247; large tegument protein UL36; Provisional

  3. XM_047444000.1 → XP_047299956.1  glutamate-rich protein 2 isoform X3

    UniProtKB/TrEMBL
    A0A8V8TMB5
    Related
    ENSP00000513268.1, ENST00000697344.1

  4. XM_011511001.3 → XP_011509303.1  glutamate-rich protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011509303.1

    UniProtKB/TrEMBL
    A0A8V8TMB5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    171247505..171276133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341508.1 → XP_054197483.1  glutamate-rich protein 2 isoform X1

  2. XM_054341509.1 → XP_054197484.1  glutamate-rich protein 2 isoform X2

  3. XM_054341510.1 → XP_054197485.1  glutamate-rich protein 2 isoform X3

    UniProtKB/TrEMBL
    A0A8V8TMB5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A1L162.1 GenPept UniProtKB/Swiss-Prot:A1L162

Gene LinkOut

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