FCN3 ficolin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FCN3provided by HGNC
Official Full Name: ficolin 3provided by HGNC
Primary source: HGNC:HGNC:3625
See related: Ensembl:ENSG00000142748 MIM:604973; AllianceGenome:HGNC:3625
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FCNH; HAKA1
Summary: Ficolins are a group of proteins which consist of a collagen-like domain and a fibrinogen-like domain. In human serum, there are two types of ficolins, both of which have lectin activity. The protein encoded by this gene is a thermolabile beta-2-macroglycoprotein found in all human serum and is a member of the ficolin/opsonin p35 lectin family. The protein, which was initially identified based on its reactivity with sera from patients with systemic lupus erythematosus, has been shown to have a calcium-independent lectin activity. The protein can activate the complement pathway in association with MASPs and sMAP, thereby aiding in host defense through the activation of the lectin pathway. Alternative splicing occurs at this locus and two variants, each encoding a distinct isoform, have been identified. [provided by RefSeq, Jul 2008]
Expression: Biased expression in lung (RPKM 93.2), liver (RPKM 47.7) and 3 other tissues See more
Orthologs: all
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Genomic context

Location:: 1p36.11

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (27369110..27374824, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (27210348..27216135, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (27695601..27701315, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile.
Title: A survey of ficolin-3 activity in Systemic Lupus Erythematosus reveals a link to hematological disease manifestations and autoantibody profile.
Loss of ficolin-3 expression is associated with poor prognosis in patients with hepatocellular carcinoma.
Title: Loss of ficolin-3 expression is associated with poor prognosis in patients with hepatocellular carcinoma.
Ficolin-3 and MASP-2 gene variants in Siberian arctic populations: Summarized evidence of selective pressure for the high frequency of lectin complement pathway deficiency.
Title: Ficolin-3 and MASP-2 gene variants in Siberian arctic populations: Summarized evidence of selective pressure for the high frequency of lectin complement pathway deficiency.
A Novel Gene Signature Based on CDC20 and FCN3 for Prediction of Prognosis and Immune Features in Patients with Hepatocellular Carcinoma.
Title: A Novel Gene Signature Based on CDC20 and FCN3 for Prediction of Prognosis and Immune Features in Patients with Hepatocellular Carcinoma.
Ficolin-3 in rheumatic fever and rheumatic heart disease.
Title: Ficolin-3 in rheumatic fever and rheumatic heart disease.
Ficolin-3 in chronic Chagas disease: Low serum levels associated with the risk of cardiac insufficiency.
Title: Ficolin-3 in chronic Chagas disease: Low serum levels associated with the risk of cardiac insufficiency.
Association of ficolin-1 and ficolin-3 gene variation and pulmonary tuberculosis susceptibility in a Chinese population.
Title: Association of ficolin-1 and ficolin-3 gene variation and pulmonary tuberculosis susceptibility in a Chinese population.
FCN3 functions as a tumor suppressor of lung adenocarcinoma through induction of endoplasmic reticulum stress.
Title: FCN3 functions as a tumor suppressor of lung adenocarcinoma through induction of endoplasmic reticulum stress.
The clinical value of ficolin-3 gene polymorphism in rheumatic heart disease. An Egyptian adolescents study.
Title: The clinical value of ficolin-3 gene polymorphism in rheumatic heart disease. An Egyptian adolescents study.
Associations of ficolins and mannose-binding lectin with acute myeloid leukaemia in adults.
Title: Associations of ficolins and mannose-binding lectin with acute myeloid leukaemia in adults.

Submit: New GeneRIF Correction See all GeneRIFs (60)

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

Associated conditions

Description	Tests
Immunodeficiency due to ficolin3 deficiency MedGen: C3151226 OMIM: 613860 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-74468 (e-PCR)
- UniSTS:42246

D1S3293 (e-PCR)
- UniSTS:38334

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables antigen binding	IDA Inferred from Direct Assay more info	PubMed
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables carbohydrate derivative binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell surface pattern recognition receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in complement activation	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, lectin pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, lectin pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of RNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of viral entry into host cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of opsonization	IDA Inferred from Direct Assay more info	PubMed
involved_in proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in recognition of apoptotic cell	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in external side of plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
part_of serine-type endopeptidase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ficolin-3

Names: H-ficolin; collagen/fibrinogen domain-containing lectin 3 p35; collagen/fibrinogen domain-containing protein 3; ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen)

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.

Genomic

NG_016279.1 RefSeqGene

Range

5001..10715

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_171

mRNA and Protein(s)

NM_003665.4 → NP_003656.2 ficolin-3 isoform 1 precursor

See identical proteins and their annotated locations for NP_003656.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AY358081, BG546674, CR456808

Consensus CDS

CCDS300.1

UniProtKB/Swiss-Prot

O75636, Q6IBJ5, Q8WW86

Related

ENSP00000270879.4, ENST00000270879.9

Conserved Domains (1) summary

cd00087
Location:90 → 299

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...
NM_173452.3 → NP_775628.1 ficolin-3 isoform 2 precursor

See identical proteins and their annotated locations for NP_775628.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2) that lacks an internal segment compared to isoform 1.

Source sequence(s)

FO393419

Consensus CDS

CCDS301.1

UniProtKB/TrEMBL

Q6UXM4

Related

ENSP00000347077.2, ENST00000354982.2

Conserved Domains (1) summary

cd00087
Location:77 → 288

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...