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

Gene ID: 130132, updated on 5-Mar-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, Apr 2022]
Expression
Broad expression in brain (RPKM 9.8), fat (RPKM 3.7) and 18 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (197568224..197675587, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (198051829..198159265, complement)
105.20220307 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: 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. 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)

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

  • 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_2023_10

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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