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    CCER2 coiled-coil glutamate rich protein 2 [ Homo sapiens (human) ]

    Gene ID: 643669, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCER2provided by HGNC
    Official Full Name
    coiled-coil glutamate rich protein 2provided by HGNC
    Primary source
    HGNC:HGNC:44662
    See related
    Ensembl:ENSG00000262484 MIM:617634; AllianceGenome:HGNC:44662
    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
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See CCER2 in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38908980..38912186, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41712951..41718342, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (39399620..39402826, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14603 Neighboring gene sirtuin 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39384205-39384706 Neighboring gene NFKB inhibitor beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39402426-39403052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39403053-39403677 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39408779-39409649 Neighboring gene seryl-tRNA synthetase 2, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14604 Neighboring gene mitochondrial ribosomal protein S12

    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. Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease. Mukawa M, et al. J Stroke Cerebrovasc Dis, 2017 Jan. PMID 27717682
    2. Identification of promoter regions in the human genome by using a retroviral plasmid library-based functional reporter gene assay. Khambata-Ford S, et al. Genome Res, 2003 Jul. PMID 12805274, Free PMC Article
    3. Normalization and subtraction: two approaches to facilitate gene discovery. Bonaldo MF, et al. Genome Res, 1996 Sep. PMID 8889548

    GeneRIFs: Gene References Into Functions

    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)

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing 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_001243212.2 → NP_001230141.1  coiled-coil domain-containing glutamate-rich protein 2 precursor

      See identical proteins and their annotated locations for NP_001230141.1

      Status: VALIDATED

      Source sequence(s)
      AC011455
      Consensus CDS
      CCDS58661.1
      UniProtKB/Swiss-Prot
      I3L3R5
      Related
      ENSP00000460665.1, ENST00000571838.2

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      38908980..38912186 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527219.4 → XP_011525521.1  coiled-coil domain-containing glutamate-rich protein 2 isoform X2

    2. XM_011527217.3 → XP_011525519.1  coiled-coil domain-containing glutamate-rich protein 2 isoform X1

      See identical proteins and their annotated locations for XP_011525519.1

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_014040929.1 Reference GRCh38.p14 PATCHES

      Range
      318652..324043 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331973.1 → XP_054187948.1  coiled-coil domain-containing glutamate-rich protein 2 isoform X2

    2. XM_054331972.1 → XP_054187947.1  coiled-coil domain-containing glutamate-rich protein 2 isoform X3

      UniProtKB/Swiss-Prot
      I3L3R5

    3. XM_054331971.1 → XP_054187946.1  coiled-coil domain-containing glutamate-rich protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41712951..41718342 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321762.1 → XP_054177737.1  coiled-coil domain-containing glutamate-rich protein 2 isoform X2

    2. XM_054321761.1 → XP_054177736.1  coiled-coil domain-containing glutamate-rich protein 2 isoform X3

      UniProtKB/Swiss-Prot
      I3L3R5

    3. XM_054321760.1 → XP_054177735.1  coiled-coil domain-containing glutamate-rich protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    I3L3R5.1 GenPept UniProtKB/Swiss-Prot:I3L3R5

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