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    RNFT2 ring finger protein, transmembrane 2 [ Homo sapiens (human) ]

    Gene ID: 84900, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RNFT2provided by HGNC
    Official Full Name
    ring finger protein, transmembrane 2provided by HGNC
    Primary source
    HGNC:HGNC:25905
    See related
    Ensembl:ENSG00000135119 MIM:620254; AllianceGenome:HGNC:25905
    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
    Also known as
    TMEM118
    Summary
    Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in positive regulation of ERAD pathway. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 3.4), testis (RPKM 1.1) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RNFT2 in Genome Data Viewer
    Location:
    12q24.22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (116738315..116853631)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (116719460..116834773)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (117176120..117291436)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117100573-117101197 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117103598-117104149 Neighboring gene long intergenic non-protein coding RNA 3088 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7099 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:117154997-117155526 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:117155527-117156056 Neighboring gene NANOG hESC enhancer GRCh37_chr12:117164433-117164934 Neighboring gene SREBF pathway regulator in golgi 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117174416-117175374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4904 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7100 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:117197536-117198735 Neighboring gene ribosomal protein L21 pseudogene 105 Neighboring gene RNA, U6 small nuclear 558, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7101 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4906 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:117276582-117276778 Neighboring gene Sharpr-MPRA regulatory region 3661 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:117311807-117312016 Neighboring gene MPRA-validated peak1984 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:117319439-117320400 Neighboring gene harakiri, BCL2 interacting protein Neighboring gene ribosomal protein L36 pseudogene 15

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Tissue RNFT2 Expression Levels Are Associated With Peritoneal Recurrence and Poor Prognosis in Gastric Cancer. Sasahara M, et al. Anticancer Res, 2021 Feb. PMID 33517265
    2. The RNFT2/IL-3Rα axis regulates IL-3 signaling and innate immunity. Tong Y, et al. JCI Insight, 2020 Feb 13. PMID 31990690, Free PMC Article
    3. Genome-wide association analysis of age-at-onset in Alzheimer's disease. Kamboh MI, et al. Mol Psychiatry, 2012 Dec. PMID 22005931, Free PMC Article
    4. MARCH8 Ubiquitinates the Hepatitis C Virus Nonstructural 2 Protein and Mediates Viral Envelopment. Kumar S, et al. Cell Rep, 2019 Feb 12. PMID 30759391, Free PMC Article
    5. The finished DNA sequence of human chromosome 12. Scherer SE, et al. Nature, 2006 Mar 16. PMID 16541075

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The RNFT2/IL-3Ralpha axis regulates IL-3 signaling and innate immunity.
      Title: The RNFT2/IL-3Rα axis regulates IL-3 signaling and innate immunity.
    2. Tissue RNFT2 Expression Levels Are Associated With Peritoneal Recurrence and Poor Prognosis in Gastric Cancer.
      Title: Tissue RNFT2 Expression Levels Are Associated With Peritoneal Recurrence and Poor Prognosis in Gastric Cancer.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14627

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in positive regulation of ERAD pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase RNFT2
    Names
    RING finger and transmembrane domain-containing protein 2
    transmembrane protein 118

    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_001109903.2 → NP_001103373.1  E3 ubiquitin-protein ligase RNFT2 isoform 1

      See identical proteins and their annotated locations for NP_001103373.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC083806, AK093164, BG719293, BQ676121, CA432422
      Consensus CDS
      CCDS44987.1
      UniProtKB/Swiss-Prot
      E9PAM7, Q96EX2, Q96SU5
      Related
      ENSP00000376332.2, ENST00000392549.7
      Conserved Domains (1) summary
      cd16742
      Location:382 → 422
      RING-HC_RNFT2; RING finger, HC subclass, found in RING finger and transmembrane domain-containing protein 2(RNFT2)

    2. NM_001382266.1 → NP_001369195.1  E3 ubiquitin-protein ligase RNFT2 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR compared to variant 1. Variants 1 and 3 encode the same isoform (1).
      Source sequence(s)
      AC083806, AC090013
      Consensus CDS
      CCDS44987.1
      UniProtKB/Swiss-Prot
      E9PAM7, Q96EX2, Q96SU5
      Related
      ENSP00000257575.4, ENST00000257575.9
      Conserved Domains (1) summary
      cd16742
      Location:382 → 422
      RING-HC_RNFT2; RING finger, HC subclass, found in RING finger and transmembrane domain-containing protein 2(RNFT2)

    3. NM_032814.4 → NP_116203.2  E3 ubiquitin-protein ligase RNFT2 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon, compared to variant 1, and differs in the 3' UTR. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC083806, AC090013, AK027533, BG719293, CA432422
      Consensus CDS
      CCDS9180.2
      UniProtKB/Swiss-Prot
      Q96EX2
      Related
      ENSP00000385669.3, ENST00000407967.7
      Conserved Domains (1) summary
      cl17238
      Location:382 → 400
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    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
      116738315..116853631
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429745.1 → XP_047285701.1  E3 ubiquitin-protein ligase RNFT2 isoform X1

    2. XM_047429746.1 → XP_047285702.1  E3 ubiquitin-protein ligase RNFT2 isoform X2

    3. XM_047429747.1 → XP_047285703.1  E3 ubiquitin-protein ligase RNFT2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      116719460..116834773
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373590.1 → XP_054229565.1  E3 ubiquitin-protein ligase RNFT2 isoform X1

    2. XM_054373591.1 → XP_054229566.1  E3 ubiquitin-protein ligase RNFT2 isoform X2

    3. XM_054373592.1 → XP_054229567.1  E3 ubiquitin-protein ligase RNFT2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96EX2.2 GenPept UniProtKB/Swiss-Prot:Q96EX2

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