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RERGL RERG like [ Homo sapiens (human) ]

Gene ID: 79785, updated on 10-Oct-2023

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, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (18080869..18090193, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (17957086..17966409, complement)
105.20220307 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)

Genotypes

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_2023_10

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

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