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    RFTN2 raftlin family member 2 [ Homo sapiens (human) ]

    Gene ID: 130132, updated on 10-Dec-2024

    Summary

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    Official Symbol
    RFTN2provided by HGNC
    Official Full Name
    raftlin family member 2provided by HGNC
    Primary source
    HGNC:HGNC:26402
    See related
    Ensembl:ENSG00000162944 MIM:618215; AllianceGenome:HGNC:26402
    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
    C2orf11; Raftlin-2
    Summary
    Predicted to act upstream of or within dsRNA transport and response to exogenous dsRNA. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in brain (RPKM 9.8), fat (RPKM 3.7) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RFTN2 in Genome Data Viewer
    Location:
    2q33.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197568224..197675587, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (198051829..198159265, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (198432948..198540311, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16939 Neighboring gene HSPE1-MOB4 readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12215 Neighboring gene heat shock protein family E (Hsp10) member 1 Neighboring gene MOB family member 4, phocein Neighboring gene uncharacterized LOC124907952 Neighboring gene RNY5 pseudogene 2 Neighboring gene NANOG hESC enhancer GRCh37_chr2:198447337-198447852 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:198451577-198452275 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:198452276-198452973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16940 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:198484019-198484523 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:198484980-198485480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16941 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:198532470-198533059 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:198533060-198533648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16943 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:198593971-198594541 Neighboring gene methionyl-tRNA synthetase 2, mitochondrial Neighboring gene boule homolog, RNA binding protein

    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. Biological insights from 108 schizophrenia-associated genetic loci. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Nature, 2014 Jul 24. PMID 25056061, Free PMC Article
    2. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Jostins L, et al. Nature, 2012 Nov 1. PMID 23128233, Free PMC Article
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier LW, et al. Nature, 2005 Apr 7. PMID 15815621
    4. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    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

    • FLJ30574, MGC117313

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in dsRNA transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to exogenous dsRNA IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    raftlin-2
    Names
    raft-linking protein 2

    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_144629.3 → NP_653230.2  raftlin-2

      See identical proteins and their annotated locations for NP_653230.2

      Status: VALIDATED

      Source sequence(s)
      AC020550, AK055136, BC039690, BC113361
      Consensus CDS
      CCDS2323.1
      UniProtKB/Swiss-Prot
      Q14DH4, Q2TA69, Q52LD8, Q53QE0, Q53SE1, Q96NM3
      Related
      ENSP00000295049.3, ENST00000295049.9
      Conserved Domains (1) summary
      pfam15250
      Location:1 → 439
      Raftlin; Raftlin

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      197568224..197675587 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003332.3 → XP_016858821.1  raftlin-2 isoform X5

    2. XM_011510598.4 → XP_011508900.1  raftlin-2 isoform X4

      Conserved Domains (1) summary
      pfam15250
      Location:1 → 432
      Raftlin; Raftlin

    3. XM_011510597.4 → XP_011508899.1  raftlin-2 isoform X3

      Conserved Domains (1) summary
      pfam15250
      Location:1 → 438
      Raftlin; Raftlin

    4. XM_011510596.4 → XP_011508898.1  raftlin-2 isoform X2

      Conserved Domains (1) summary
      pfam15250
      Location:1 → 448
      Raftlin; Raftlin

    5. XM_011510595.4 → XP_011508897.1  raftlin-2 isoform X1

      Conserved Domains (1) summary
      pfam15250
      Location:1 → 449
      Raftlin; Raftlin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      198051829..198159265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340520.1 → XP_054196495.1  raftlin-2 isoform X5

    2. XM_054340519.1 → XP_054196494.1  raftlin-2 isoform X4

    3. XM_054340516.1 → XP_054196491.1  raftlin-2 isoform X1

    4. XM_054340518.1 → XP_054196493.1  raftlin-2 isoform X3

    5. XM_054340517.1 → XP_054196492.1  raftlin-2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q52LD8.3 GenPept UniProtKB/Swiss-Prot:Q52LD8

    Gene LinkOut

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

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