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    ERICH2 glutamate rich 2 [ Homo sapiens (human) ]

    Gene ID: 285141, updated on 17-Sep-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 MIM:620858; 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
    mouse all
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    Genomic context

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    See ERICH2 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (170770378..170798977)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (171247505..171276133)
    RS_2024_09 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 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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