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

    Gene ID: 126917, updated on 5-Mar-2024

    Summary

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    Official Symbol
    IFFO2provided by HGNC
    Official Full Name
    intermediate filament family orphan 2provided by HGNC
    Primary source
    HGNC:HGNC:27006
    See related
    Ensembl:ENSG00000169991 AllianceGenome:HGNC:27006
    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
    Summary
    Predicted to be located in intermediate filament. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in skin (RPKM 29.4), esophagus (RPKM 16.7) and 18 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    1p36.13
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (18904280..18956676, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (18724088..18776570, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (19230774..19283170, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene aldehyde dehydrogenase 4 family member A1 Neighboring gene uncharacterized LOC124903866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:19229285-19230102 Neighboring gene microRNA 1290 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19248832-19249412 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19253369-19253995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19259223-19260210 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:19261862-19262407 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19262408-19262952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19262953-19263498 Neighboring gene Sharpr-MPRA regulatory regions 2400 and 6542 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19268377-19268894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 287 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19276675-19277594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 290 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 291 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 292 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 348 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 347 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 293 Neighboring gene uncharacterized LOC105376815 Neighboring gene MPRA-validated peak97 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19334779-19335422 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:19337151-19338350 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:19338425-19339336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19354797-19355297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19362307-19362878 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19370112-19371086 Neighboring gene Sharpr-MPRA regulatory region 2200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19396435-19397360 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:19403898-19404066 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:19407589-19408788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 295 Neighboring gene ubiquitin protein ligase E3 component n-recognin 4 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:19446050-19447249 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:19448647-19449846 Neighboring gene NANOG hESC enhancer GRCh37_chr1:19453252-19454051 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:19465867-19466616 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:19482517-19483716 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:19487245-19488444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:19528831-19529332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 350

    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. Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease. Kottyan LC, et al. Nat Genet, 2014 Aug. PMID 25017104, Free PMC Article
    2. High-Confidence Interactome for RNF41 Built on Multiple Orthogonal Assays. Masschaele D, et al. J Proteome Res, 2018 Apr 6. PMID 29560723
    3. CD95/Fas suppresses NF-κB activation through recruitment of KPC2 in a CD95L/FasL-independent mechanism. Guégan JP, et al. iScience, 2021 Dec 17. PMID 34917906, Free PMC Article
    4. Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB. Li FL, et al. EMBO J, 2022 Sep 1. PMID 35844135, Free PMC Article
    5. The human cytoplasmic dynein interactome reveals novel activators of motility. Redwine WB, et al. Elife, 2017 Jul 18. PMID 28718761, Free PMC Article

    See all (15) 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
    Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic 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

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    intermediate filament family orphan 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_001136265.2 → NP_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, Q9H7K0
      Related
      ENSP00000387941.2, ENST00000455833.7
      Conserved Domains (1) summary
      pfam00038
      Location:194 → 483
      Filament; Intermediate filament protein

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      18904280..18956676 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444839.1 → XP_047300795.1  intermediate filament family orphan 2 isoform X2

    2. XM_011540630.3 → XP_011538932.1  intermediate filament family orphan 2 isoform X1

      Conserved Domains (1) summary
      pfam00038
      Location:355 → 436
      Filament; Intermediate filament protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      18724088..18776570 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334282.1 → XP_054190257.1  intermediate filament family orphan 2 isoform X2

    2. XM_054334281.1 → XP_054190256.1  intermediate filament family orphan 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TF58.3 GenPept UniProtKB/Swiss-Prot:Q5TF58

    Gene LinkOut

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

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