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

Summary

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: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (50287732..50292429, complement)
110	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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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)

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

RH80851 (e-PCR)
- UniSTS:85717

SHGC-76999 (e-PCR)
- UniSTS:51926

RH76408 (e-PCR)
- UniSTS:88826

Homology

Homologs of the IFRD2 gene: The IFRD2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, zebrafish, and frog.
Orthologs from Annotation Pipeline: 303 organisms have orthologs with human gene IFRD2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in nucleus	HDA more info	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)

NM_006764.5 → NP_006755.5 interferon-related developmental regulator 2

Status: VALIDATED

Source sequence(s)

U90094

Consensus CDS

CCDS77746.2

UniProtKB/TrEMBL

A0A0R4J2F6

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)