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

Gene ID: 84900, updated on 5-Sep-2021

Summary

Official Symbol
RNFT2provided by HGNC
Official Full Name
ring finger protein, transmembrane 2provided by HGNC
Primary source
HGNC:HGNC:25905
See related
Ensembl:ENSG00000135119
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
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

See RNFT2 in Genome Data Viewer
Location:
12q24.22
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (116738315..116853631)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (117176120..117291436)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene microtubule associated protein 1 light chain 3 beta 2 Neighboring gene SREBF pathway regulator in golgi 1 Neighboring gene ribosomal protein L21 pseudogene 105 Neighboring gene RNA, U6 small nuclear 558, pseudogene Neighboring gene harakiri, BCL2 interacting protein Neighboring gene ribosomal protein L36 pseudogene 15

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Genome-wide association analysis of age-at-onset in Alzheimer's disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
Process Evidence Code Pubs
involved_in positive regulation of ERAD pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
RING finger and transmembrane domain-containing protein 2
Names
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_001109903.2NP_001103373.1  RING finger and transmembrane domain-containing protein 2 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
    Q96EX2
    Related
    ENSP00000376332.2, ENST00000392549.7
    Conserved Domains (1) summary
    cd16742
    Location:382422
    RING-HC_RNFT2; RING finger, HC subclass, found in RING finger and transmembrane domain-containing protein 2(RNFT2)
  2. NM_001382266.1NP_001369195.1  RING finger and transmembrane domain-containing protein 2 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
    Related
    ENSP00000257575.4, ENST00000257575.9
    Conserved Domains (1) summary
    cd16742
    Location:382422
    RING-HC_RNFT2; RING finger, HC subclass, found in RING finger and transmembrane domain-containing protein 2(RNFT2)
  3. NM_032814.4NP_116203.2  RING finger and transmembrane domain-containing protein 2 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:382400
    RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_001748905.2 RNA Sequence

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