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IFRD2 interferon related developmental regulator 2 [ Homo sapiens (human) ]

Gene ID: 7866, updated on 5-Mar-2024

Summary

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Official Symbol
IFRD2provided by HGNC
Official Full Name
interferon related developmental regulator 2provided by HGNC
Primary source
HGNC:HGNC:5457
See related
Ensembl:ENSG00000214706 MIM:602725; AllianceGenome:HGNC:5457
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
SM15; IFNRP; SKMc15
Summary
Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in stomach (RPKM 16.0), thyroid (RPKM 14.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
3p21.31
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (50287732..50292429, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (50317089..50321785, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (50325163..50329860, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene SEMA3B antisense RNA 1 (head to head) Neighboring gene semaphorin 3B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19897 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:50310784-50311307 Neighboring gene microRNA 6872 Neighboring gene leucine rich single-pass membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50330739-50331294 Neighboring gene hyaluronidase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19899 Neighboring gene N-alpha-acetyltransferase 80, NatH catalytic subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:50340489-50341423 Neighboring gene hyaluronidase 1

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. Structures of translationally inactive mammalian ribosomes. Brown A, et al. Elife, 2018 Oct 24. PMID 30355441, Free PMC Article
  2. The human homolog of the rodent immediate early response genes, PC4 and TIS7, resides in the lung cancer tumor suppressor gene region on chromosome 3p21. Latif F, et al. Hum Genet, 1997 Mar. PMID 9050919
  3. Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes. Buanne P, et al. Genomics, 1998 Jul 15. PMID 9722946
  4. Mechanism of client selection by the protein quality-control factor UBE2O. Yip MCJ, et al. Nat Struct Mol Biol, 2022 Aug. PMID 35915257, Free PMC Article
  5. The 630-kb lung cancer homozygous deletion region on human chromosome 3p21.3: identification and evaluation of the resident candidate tumor suppressor genes. The International Lung Cancer Chromosome 3p21.3 Tumor Suppressor Gene Consortium. Lerman MI, et al. Cancer Res, 2000 Nov 1. PMID 11085536

See all (32) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of a new family of IFRD (interferon developmental regulator) genes, of which SkMC15 is part, being named IFDR2
    Title: Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variation and antioxidant response gene expression in the bronchial airway epithelium of smokers at risk for lung cancer.
  3. Identification of the IFRD gene family, comprising the two genes PC4 / Tis7 / IFRD1 and SKMc15 / IFRD2, and in situ-hybridization analysis of their expression during developments
    Title: Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes.
  4. This publication discusses both IFRD1 and IFRD2.
    Title: Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes.
Submit: New GeneRIF Correction

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

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

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of interferon-related developmental regulator 2 (IFRD2) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ40446

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribosome binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables translation repressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of translation IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in nucleus HDA PubMed 

General protein information

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Preferred Names
interferon-related developmental regulator 2
Names
interferon-related protein

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_006764.5 → NP_006755.5  interferon-related developmental regulator 2

    Status: VALIDATED

    Source sequence(s)
    U90094
    Consensus CDS
    CCDS77746.2
    UniProtKB/Swiss-Prot
    A0A0R4J2F6, Q12894, Q9BVB4, Q9UJ88
    UniProtKB/TrEMBL
    B3KQD7
    Related
    ENSP00000402849.4, ENST00000417626.8
    Conserved Domains (2) summary
    pfam04836
    Location:386 → 439
    IFRD_C; Interferon-related protein conserved region
    pfam05004
    Location:32 → 341
    IFRD; Interferon-related developmental regulator (IFRD)

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    50287732..50292429 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    50317089..50321785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12894.4 GenPept UniProtKB/Swiss-Prot:Q12894

Gene LinkOut

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

Chemical Information
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