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

Gene ID: 126917, updated on 6-Sep-2022

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 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

See IFFO2 in Genome Data Viewer
Location:
1p36.13
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (18904280..18956676, complement)
110 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 microRNA 1290 Neighboring gene Sharpr-MPRA regulatory regions 2400 and 6542 Neighboring gene uncharacterized LOC105376815 Neighboring gene Sharpr-MPRA regulatory region 2200

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

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_001136265.2NP_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:194483
    Filament; Intermediate filament protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_047444839.1XP_047300795.1  intermediate filament family orphan 2 isoform X2

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

    Conserved Domains (1) summary
    pfam00038
    Location:355436
    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)