IFNA21

protein-coding

interferon alpha 21, the group of Interferons

Gene summary

This gene is a member of the alpha interferon gene cluster on the short arm of chromosome 9. Interferons are cytokines produced in response to viral infection that mediate the immune response and interfere with viral replication. The encoded protein is a type I interferon and may play a specific role in the antiviral response to rubella virus. [provided by RefSeq, Sep 2011]

MANE transcript

NM_002175.2

Inheritance

—

ClinVar variants

U:37B:4

Top phenotype

Multisystem inflammatory syndrome in children

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr9:21,165,637-21,166,660

External References & Databases

Ensembl (ENSG00000137080)

Transcript & Mutation Effects

hg38 • Region Span ~1.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to IFNA21 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 40

Multisystem inflammatory syndrome in childrenTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002175.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			36 clinvar	4 clinvar		40
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	4	0	41

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002175.2	RefSeq	NP_002166.2	1	MANE Select
ENST00000380225.1	Ensembl	ENSP00000369574.1	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

PI3K-Akt signaling pathway - Homo sapiens (human)
Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human)
Jak-STAT signaling pathway - Homo sapiens (human)
Influenza A - Homo sapiens (human)
Autoimmune thyroid disease - Homo sapiens (human)

Biological Process

adaptive immune response
T cell activation involved in immune response
natural killer cell activation involved in immune response
humoral immune response
blood coagulation

Molecular Function

cytokine activity
cytokine receptor binding
type I interferon receptor binding

Cellular Component

extracellular region
extracellular space

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380225
Coding exons: 1
Length: 1024

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.14	146	89.2	1.64	0.00000414	1239
Missense (PolyPhen)		28	19.144	1.4626		313
Synonymous	-2.28	55	37.3	1.48	0.00000183	368
Loss of Function

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Produced by macrophages, IFN-alpha have antiviral activities. Interferon stimulates the production of two enzymes: a protein kinase and an oligoadenylate synthetase. {ECO:0000269|PubMed:1634550}.;

Recessive Scores

pRec: 0.0817

Intolerance Scores

LoFtool: 0.877
RVIS EVS: 1.17
RVIS percentile EVS: 92.7

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium