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

Gene ID: 643669, updated on 5-Mar-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, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
19q13.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38908980..38912186, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41712951..41718342, complement)
105.20220307 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)

Genotypes

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_2023_10

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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