FBN3 fibrillin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FBN3provided by HGNC
Official Full Name: fibrillin 3provided by HGNC
Primary source: HGNC:HGNC:18794
See related: Ensembl:ENSG00000142449 MIM:608529; AllianceGenome:HGNC:18794
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
Summary: This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 19p13.2

Exon count:: 68

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (8065402..8149592, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (8066415..8150695, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (8130286..8214476, complement)

Chromosome 19 - NC_000019.10 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?

Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.
Title: Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.
an association study showed a potential association of the D19S884 marker with PCOS in Chinese Han women and the meta-analysis identified that the A8 allele may increase susceptibility to PCOS
Title: Microsatellite polymorphism in the fibrillin 3 gene and susceptibility to PCOS: a case-control study and meta-analysis.
The FBN3 risk allele may be associated with changes in basal glucose homeostasis in PCOS.
Title: Association of fibrillin-3 and transcription factor-7-like 2 gene variants with metabolic phenotypes in PCOS.
Data show that TGF-beta pathways operate during ovarian fetal development, and fibrillin 3 is highly expressed at a critical stage early in developing human and bovine fetal ovaries.
Title: Linkage of regulators of TGF-β activity in the fetal ovary to polycystic ovary syndrome.
fibrillin-3, compared to the other fibrillins, fulfills both overlapping and distinct functions in human development
Title: Fibrillin-3 expression in human development.
A variant in the fibrillin-3 gene is associated with TGF-beta and inhibin B levels in women with polycystic ovary syndrome.
Title: A variant in the fibrillin-3 gene is associated with TGF-β and inhibin B levels in women with polycystic ovary syndrome.
Loss of fibrillin-3 during folliculogenesis may be an important factor in polycystic ovary syndrome pathogenesis.
Title: Fibrillins in adult human ovary and polycystic ovary syndrome: is fibrillin-3 affected in PCOS?
Single nucleotide polymorphisms in FBN3 occur and may be a candidate gene for polycystic ovary syndrome.
Title: Family-based analysis of candidate genes for polycystic ovary syndrome.
Data show that fibrillin 3 appears to have little involvement in PCOS but cannot rule out that other markers in the region of chromosome 19p13.2 are associated with PCOS or that FBN3 expression occurs in other organs that may influence the PCOS phenotype.
Title: Genetic and gene expression analyses of the polycystic ovary syndrome candidate gene fibrillin-3 and other fibrillin family members in human ovaries.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: [FBN3 gene polymorphisms in adolescent idiopathic scoliosis patients].

Submit: New GeneRIF Correction See all GeneRIFs (12)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D13S1222 (e-PCR)
- UniSTS:51725

L17705 (e-PCR)
- UniSTS:66091

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D13S1222 (e-PCR)
- UniSTS:73341

SHGC-152528 (e-PCR)
- UniSTS:177543

L17877 (e-PCR)
- UniSTS:61334

L17809 (e-PCR)
- UniSTS:39087

D19S884 (e-PCR)
- UniSTS:23985

D19S922 (e-PCR)
- UniSTS:53426

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in microfibril	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: fibrillin-3

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_001321431.2 → NP_001308360.1 fibrillin-3 precursor

Status: REVIEWED

Source sequence(s)

AC008946, AC022146, AY165864, BC153882

Consensus CDS

CCDS12196.1

UniProtKB/Swiss-Prot

Q75N90, Q75N91, Q75N92, Q75N93, Q86SJ5, Q96JP8

UniProtKB/TrEMBL

A8KAY2

Related

ENSP00000472324.1, ENST00000601739.5

Conserved Domains (9) summary

smart00179
Location:1563 → 1599

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:2485 → 2519

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00683
Location:1506 → 1541

TB; TB domain

pfam07645
Location:489 → 529

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:1909 → 1932

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1284 → 1319

EGF_3; EGF domain

pfam14670
Location:1159 → 1194

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:2403 → 2443

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:2363 → 2403

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
NM_032447.5 → NP_115823.3 fibrillin-3 precursor

See identical proteins and their annotated locations for NP_115823.3

Status: REVIEWED

Source sequence(s)

AC008946, AC022146, AY165863, BC153882

Consensus CDS

CCDS12196.1

UniProtKB/Swiss-Prot

Q75N90, Q75N91, Q75N92, Q75N93, Q86SJ5, Q96JP8

UniProtKB/TrEMBL

A8KAY2

Related

ENSP00000470498.1, ENST00000600128.6

Conserved Domains (9) summary

smart00179
Location:1563 → 1599

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:2485 → 2519

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00683
Location:1506 → 1541

TB; TB domain

pfam07645
Location:489 → 529

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:1909 → 1932

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1284 → 1319

EGF_3; EGF domain

pfam14670
Location:1159 → 1194

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:2403 → 2443

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:2363 → 2403

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

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_000019.10 Reference GRCh38.p14 Primary Assembly

Range

8065402..8149592 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017027372.2 → XP_016882861.1 fibrillin-3 isoform X1

UniProtKB/Swiss-Prot

Q75N90, Q75N91, Q75N92, Q75N93, Q86SJ5, Q96JP8

UniProtKB/TrEMBL

A8KAY2

Related

ENSP00000270509.2, ENST00000270509.6

Conserved Domains (9) summary

smart00179
Location:1563 → 1599

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:2485 → 2519

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

pfam00683
Location:1506 → 1541

TB; TB domain

pfam07645
Location:489 → 529

EGF_CA; Calcium-binding EGF domain

pfam12662
Location:1909 → 1932

cEGF; Complement Clr-like EGF-like

pfam12947
Location:1284 → 1319

EGF_3; EGF domain

pfam14670
Location:1159 → 1194

FXa_inhibition; Coagulation Factor Xa inhibitory site

cl00057
Location:2403 → 2443

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

cl21504
Location:2363 → 2403

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
XM_017027374.3 → XP_016882863.1 fibrillin-3 isoform X3

UniProtKB/TrEMBL

A8KAY2
XM_017027375.3 → XP_016882864.1 fibrillin-3 isoform X4

UniProtKB/TrEMBL

A8KAY2
XM_017027376.2 → XP_016882865.1 fibrillin-3 isoform X5

UniProtKB/TrEMBL

A8KAY2
XM_017027373.2 → XP_016882862.1 fibrillin-3 isoform X2

UniProtKB/TrEMBL

A8KAY2
XM_017027379.2 → XP_016882868.1 fibrillin-3 isoform X8

UniProtKB/TrEMBL

A0A494C0D8, A8KAY2

Related

ENSP00000498507.1, ENST00000651877.1
XM_017027377.3 → XP_016882866.1 fibrillin-3 isoform X6
XM_017027378.3 → XP_016882867.1 fibrillin-3 isoform X7