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

Gene ID: 84900, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in brain (RPKM 3.4), testis (RPKM 1.1) and 7 other tissues See more
Orthologs
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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: HPA RNA-seq normal tissues 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. 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)

Genotypes

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

Gene LinkOut

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

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