FCN2 ficolin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FCN2provided by HGNC
Official Full Name: ficolin 2provided by HGNC
Primary source: HGNC:HGNC:3624
See related: Ensembl:ENSG00000160339 MIM:601624; AllianceGenome:HGNC:3624
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: P35; FCNL; EBP-37; ficolin-2
Summary: The product of this gene belongs to the ficolin family of proteins. This family is characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression: Biased expression in liver (RPKM 10.3), adrenal (RPKM 1.6) and 2 other tissues See more
Orthologs: all
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Genomic context

Location:: 9q34.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (134864144..134887523)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (147085834..147109194)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (137772656..137779369)

Chromosome 9 - NC_000009.12 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?

Variants of IL6, IL10, FCN2, RNASE3, IL12B and IL17B loci are associated with Schistosoma mansoni worm burden in the Albert Nile region of Uganda.
Title: Variants of IL6, IL10, FCN2, RNASE3, IL12B and IL17B loci are associated with Schistosoma mansoni worm burden in the Albert Nile region of Uganda.
l-ficolin-MASP arm of the complement system in schizophrenia.
Title: l-ficolin-MASP arm of the complement system in schizophrenia.
Selected SNPs of FCN2 Associated with Chronic Tonsillitis in the Polish Adult Population.
Title: Selected SNPs of FCN2 Associated with Chronic Tonsillitis in the Polish Adult Population.
Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates.
Title: Association of the FCN2 Gene Promoter Region Polymorphisms with Very Low Birthweight in Preterm Neonates.
Ficolin-2 Lectin Complement Pathway Mediates Capsule-Specific Innate Immunity Against Invasive Pneumococcal Disease.
Title: Ficolin-2 Lectin Complement Pathway Mediates Capsule-Specific Innate Immunity Against Invasive Pneumococcal Disease.
Ficolin-2 Plasma Level Assesses Liver Fibrosis in Non-Alcoholic Fatty Liver Disease.
Title: Ficolin-2 Plasma Level Assesses Liver Fibrosis in Non-Alcoholic Fatty Liver Disease.
Ficolin-2 serum levels predict the occurrence of acute coronary syndrome in patients with severe carotid artery stenosis.
Title: Ficolin-2 serum levels predict the occurrence of acute coronary syndrome in patients with severe carotid artery stenosis.
Novel FCN2 Variants and Haplotypes are Associated with Rheumatic Heart Disease.
Title: Novel FCN2 Variants and Haplotypes are Associated with Rheumatic Heart Disease.
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.
Circulating Ficolin-2 and Ficolin-3 Form Heterocomplexes.
Title: Circulating Ficolin-2 and Ficolin-3 Form Heterocomplexes.

Submit: New GeneRIF Correction See all GeneRIFs (92)

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
HIV-1 NL4-3 replication is inhibited by exogenous addition of FCN2 (ficolin-2) in TZM-bl cells	PubMed
HIV-1 NL4-3 and JRFL upregulate expression of FCN2 (ficolin-2) in HEK293T cells	PubMed
Clinical samples from HIV-1 infected patients have upregulated levels of FCN2 (ficolin-2)	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 Env (gp120) interacts with FCN2 (ficolin-2) on the surface of gp120 expressing 293T cells	PubMed
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of ficolin (collagen/fibrinogen domain containing lectin) 2 (FCN2) in peptide-treated PBMCs	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

RH71323 (e-PCR)
- UniSTS:6257

STS-H62842 (e-PCR)
- UniSTS:83379

NoName (e-PCR)
- UniSTS:480743

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 calcium-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables carbohydrate derivative binding	IBA Inferred from Biological aspect of Ancestor more info
enables mannan binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables proteoglycan binding	IDA Inferred from Direct Assay 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, 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 Gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in opsonization	IDA Inferred from Direct Assay 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 exosome	HDA 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-2

Names: 37 kDa elastin-binding protein; L-ficolin; collagen/fibrinogen domain-containing protein 2; ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin); ficolin B; ficolin-beta; serum lectin p35

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_011649.2 RefSeqGene

Range

21668..28381

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004108.3 → NP_004099.2 ficolin-2 isoform a precursor

See identical proteins and their annotated locations for NP_004099.2

Status: REVIEWED

Description

Transcript Variant: This variant (SV0) represents the longer transcript, and encodes the longer isoform (a).

Source sequence(s)

AI052239, AL603650, BC069572

Consensus CDS

CCDS6983.1

UniProtKB/Swiss-Prot

A6NFG7, A8K478, Q15485, Q6IS69, Q7M4P4, Q9UC57

Related

ENSP00000291744.6, ENST00000291744.11

Conserved Domains (1) summary

cd00087
Location:102 → 312

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_015837.3 → NP_056652.1 ficolin-2 isoform b precursor

See identical proteins and their annotated locations for NP_056652.1

Status: REVIEWED

Description

Transcript Variant: This variant (SV1) lacks an in-frame segment of the coding region, compared to variant 1. It encodes a shorter isoform (b), that is missing an internal segment compared to isoform a.

Source sequence(s)

AI052239, AL603650, BC069572

UniProtKB/Swiss-Prot

Q15485

Related

ENSP00000291741.5, ENST00000350339.3

Conserved Domains (1) summary

cd00087
Location:64 → 274

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 ...

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

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

134864144..134887523

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011518392.4 → XP_011516694.1 ficolin-2 isoform X1

Conserved Domains (1) summary

cd00087
Location:91 → 301

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 ...
XM_006717015.5 → XP_006717078.1 ficolin-2 isoform X2

Conserved Domains (1) summary

cd00087
Location:53 → 263

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 ...

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

147085834..147109194

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362375.1 → XP_054218350.1 ficolin-2 isoform X1
XM_054362376.1 → XP_054218351.1 ficolin-2 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_015838.1: Suppressed sequence

Description

NM_015838.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_015839.1: Suppressed sequence

Description

NM_015839.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.