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    RERGL RERG like [ Homo sapiens (human) ]

    Gene ID: 79785, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RERGLprovided by HGNC
    Official Full Name
    RERG likeprovided by HGNC
    Primary source
    HGNC:HGNC:26213
    See related
    Ensembl:ENSG00000111404 AllianceGenome:HGNC:26213
    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 enable G protein activity and GTP binding activity. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in endometrium (RPKM 13.0), fat (RPKM 12.7) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RERGL in Genome Data Viewer
    Location:
    12p12.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (18080869..18090193, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (17957086..17966409, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (18233803..18243127, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902888 Neighboring gene uncharacterized LOC124902889 Neighboring gene VISTA enhancer hs579 Neighboring gene VISTA enhancer hs980 Neighboring gene microRNA 3974 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:18102760-18103303 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:18306612-18307209 Neighboring gene uncharacterized LOC124903122 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:18355246-18356201 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:18356202-18357156 Neighboring gene uncharacterized LOC124902890 Neighboring gene phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma

    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. Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3. Yang R, et al. Carcinogenesis, 2014 Feb. PMID 24127187
    2. Identification of sequence-tagged transcripts differentially expressed within the human hematopoietic hierarchy. Claudio JO, et al. Genomics, 1998 May 15. PMID 9628821
    3. Identification of genes related to Parkinson's disease using expressed sequence tags. Kim JM, et al. DNA Res, 2006 Dec 31. PMID 17213182
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of RERGL expression is associated with familial colorectal cancer.
      Title: Genome-wide analysis associates familial colorectal cancer with increases in copy number variations and a rare structural variation at 12p12.3.
    Submit: New GeneRIF Correction

    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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    Markers

    Homology

    Clone Names

    • FLJ22655

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G protein activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ras-related and estrogen-regulated growth inhibitor-like protein
    Names
    RERG/RAS-like
    NP_001273130.1
    NP_079006.1

    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.

    Genomic

    1. NG_052618.1 RefSeqGene

      Range
      5001..14325
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286201.2 → NP_001273130.1  ras-related and estrogen-regulated growth inhibitor-like protein isoform b

      See identical proteins and their annotated locations for NP_001273130.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate upstream start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.
      Source sequence(s)
      BC042888, BX422875, DT220095
      Consensus CDS
      CCDS66332.1
      UniProtKB/TrEMBL
      F5H686
      Related
      ENSP00000437814.1, ENST00000538724.6
      Conserved Domains (1) summary
      cd04146
      Location:5 → 173
      RERG_RasL11_like; Ras-related and Estrogen-Regulated Growth inhibitor (RERG) and Ras-like 11 (RasL11)-like families

    2. NM_024730.4 → NP_079006.1  ras-related and estrogen-regulated growth inhibitor-like protein isoform a

      See identical proteins and their annotated locations for NP_079006.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      BC042888, DT220095
      Consensus CDS
      CCDS8679.1
      UniProtKB/Swiss-Prot
      Q9H628
      Related
      ENSP00000229002.2, ENST00000229002.6
      Conserved Domains (1) summary
      cd04146
      Location:6 → 174
      RERG_RasL11_like; Ras-related and Estrogen-Regulated Growth inhibitor (RERG) and Ras-like 11 (RasL11)-like families

    RNA

    1. NR_104413.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA220227, BC042888, BX422875, DT220095

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      18080869..18090193 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      17957086..17966409 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H628.1 GenPept UniProtKB/Swiss-Prot:Q9H628

    Gene LinkOut

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

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