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    IFFO2 intermediate filament family orphan 2 [ Homo sapiens (human) ]

    Gene ID: 126917, updated on 5-Aug-2018

    Summary

    Official Symbol
    IFFO2provided by HGNC
    Official Full Name
    intermediate filament family orphan 2provided by HGNC
    Primary source
    HGNC:HGNC:27006
    See related
    Ensembl:ENSG00000169991 Vega:OTTHUMG00000002499
    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
    Expression
    Broad expression in skin (RPKM 29.4), esophagus (RPKM 16.7) and 18 other tissues See more
    Orthologs

    Genomic context

    See IFFO2 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (18904280..18956672, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19230774..19282826, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 4 family member A1 Neighboring gene microRNA 4695 Neighboring gene microRNA 1290 Neighboring gene Sharpr-MPRA regulatory regions 2400 and 6542 Neighboring gene uncharacterized LOC105376815 Neighboring gene ubiquitin protein ligase E3 component n-recognin 4 Neighboring gene EMC1 antisense RNA 1

    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 Jun 15 11:32:44 2016

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    intermediate filament IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    intermediate filament family orphan 2

    NCBI Reference Sequences (RefSeq)

    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_001136265.1NP_001129737.1  intermediate filament family orphan 2

      See identical proteins and their annotated locations for NP_001129737.1

      Status: VALIDATED

      Source sequence(s)
      AL080251
      Consensus CDS
      CCDS44076.1
      UniProtKB/Swiss-Prot
      Q5TF58
      Related
      ENSP00000387941.2, OTTHUMP00000002592, ENST00000455833.6, OTTHUMT00000007099
      Conserved Domains (1) summary
      pfam00038
      Location:194483
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      18904280..18956672 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540630.2XP_011538932.1  intermediate filament family orphan 2 isoform X1

      Conserved Domains (1) summary
      pfam03962
      Location:201332
      Mnd1; Mnd1 family
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