FSTL4 follistatin like 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FSTL4provided by HGNC
Official Full Name: follistatin like 4provided by HGNC
Primary source: HGNC:HGNC:21389
See related: Ensembl:ENSG00000053108 AllianceGenome:HGNC:21389
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
Summary: Predicted to enable brain-derived neurotrophic factor binding activity and calcium ion binding activity. Predicted to be involved in cell differentiation and regulation of BMP signaling pathway. Predicted to act upstream of or within negative regulation of brain-derived neurotrophic factor receptor signaling pathway; negative regulation of collateral sprouting; and negative regulation of dendritic spine development. Predicted to be located in secretory granule. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Biased expression in brain (RPKM 2.5), urinary bladder (RPKM 1.7) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (133196455..133842067, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (133716210..134365647, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (132532147..132948232, complement)

Chromosome 5 - NC_000005.10 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 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?

Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene variants associated with ischemic stroke: the cardiovascular health study.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
A genome-wide linkage and association scan reveals novel loci for hypertension and blood pressure traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

bac5177S (e-PCR)
- UniSTS:181507

bac5177T (e-PCR)
- UniSTS:181508

D5S2456 (e-PCR)
- UniSTS:40711

RH45503 (e-PCR)
- UniSTS:78609

SHGC-81470 (e-PCR)
- UniSTS:103222

D5S2236E (e-PCR)
- UniSTS:154442

D5S2242E (e-PCR)
- UniSTS:154448

RH104076 (e-PCR)
- UniSTS:98401

SHGC-80860 (e-PCR)
- UniSTS:102509

SHGC-147304 (e-PCR)
- UniSTS:175733

NIB2010 (e-PCR)
- UniSTS:74618

SHGC-110398 (e-PCR)
- UniSTS:167835

G20631 (e-PCR)
- UniSTS:39324

A005Z37 (e-PCR)
- UniSTS:39325

D5S1876 (e-PCR)
- UniSTS:75440

G59858 (e-PCR)
- UniSTS:137142

L28357 (e-PCR)
- UniSTS:13523

bac51535S (e-PCR)
- UniSTS:181478

bac51535T (e-PCR)
- UniSTS:181479

bac5155T (e-PCR)
- UniSTS:181484

bac51578S (e-PCR)
- UniSTS:181487

bac51579S (e-PCR)
- UniSTS:181488

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables brain-derived neurotrophic factor binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of brain-derived neurotrophic factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of collateral sprouting	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of dendritic spine development	IEA Inferred from Electronic Annotation more info
involved_in regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

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

General protein information

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Preferred Names: follistatin-related protein 4

Names: follistatin-like protein 4

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_015082.2 → NP_055897.1 follistatin-related protein 4 precursor

See identical proteins and their annotated locations for NP_055897.1

Status: VALIDATED

Source sequence(s)

AB028984, AC005195, AC010307, BC024300

Consensus CDS

CCDS34238.1

UniProtKB/Swiss-Prot

Q6MZW2, Q8TBU0, Q9UPU1

Related

ENSP00000265342.7, ENST00000265342.12

Conserved Domains (6) summary

cd05736
Location:358 → 433

Ig2_Follistatin_like; Second immunoglobulin (Ig)-like domain of a follistatin-like molecule encoded by the Mahya gene and similar proteins

smart00408
Location:265 → 326

IGc2; Immunoglobulin C-2 Type

smart00410
Location:256 → 337

IG_like; Immunoglobulin like

cd00104
Location:93 → 133

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

pfam07679
Location:341 → 430

I-set; Immunoglobulin I-set domain

cl08302
Location:180 → 250

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

133196455..133842067 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011543283.2 → XP_011541585.1 follistatin-related protein 4 isoform X1

See identical proteins and their annotated locations for XP_011541585.1

UniProtKB/Swiss-Prot

Q6MZW2, Q8TBU0, Q9UPU1

Conserved Domains (6) summary

cd05736
Location:358 → 433

Ig2_Follistatin_like; Second immunoglobulin (Ig)-like domain of a follistatin-like molecule encoded by the Mahya gene and similar proteins

smart00408
Location:265 → 326

IGc2; Immunoglobulin C-2 Type

smart00410
Location:256 → 337

IG_like; Immunoglobulin like

cd00104
Location:93 → 133

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

pfam07679
Location:341 → 430

I-set; Immunoglobulin I-set domain

cl08302
Location:180 → 250

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
XM_011543284.3 → XP_011541586.1 follistatin-related protein 4 isoform X2

Conserved Domains (6) summary

cd05736
Location:358 → 433

Ig2_Follistatin_like; Second immunoglobulin (Ig)-like domain of a follistatin-like molecule encoded by the Mahya gene and similar proteins

smart00408
Location:265 → 326

IGc2; Immunoglobulin C-2 Type

smart00410
Location:256 → 337

IG_like; Immunoglobulin like

cd00104
Location:93 → 133

KAZAL_FS; Kazal type serine protease inhibitors and follistatin-like domains. Kazal inhibitors inhibit serine proteases, such as, trypsin, chyomotrypsin, avian ovomucoids, and elastases. The inhibitory domain has one reactive site peptide bond, which serves the ...

pfam07679
Location:341 → 430

I-set; Immunoglobulin I-set domain

cl08302
Location:180 → 250

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
XM_011543286.4 → XP_011541588.1 follistatin-related protein 4 isoform X3

Conserved Domains (5) summary

cd05736
Location:217 → 292

Ig2_Follistatin_like; Second immunoglobulin (Ig)-like domain of a follistatin-like molecule encoded by the Mahya gene and similar proteins

smart00408
Location:124 → 185

IGc2; Immunoglobulin C-2 Type

smart00410
Location:115 → 196

IG_like; Immunoglobulin like

pfam07679
Location:200 → 289

I-set; Immunoglobulin I-set domain

cl08302
Location:39 → 109

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
XM_017009251.2 → XP_016864740.1 follistatin-related protein 4 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

133716210..134365647 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054352149.1 → XP_054208124.1 follistatin-related protein 4 isoform X1

UniProtKB/Swiss-Prot

Q6MZW2, Q8TBU0, Q9UPU1
XM_054352150.1 → XP_054208125.1 follistatin-related protein 4 isoform X2
XM_054352151.1 → XP_054208126.1 follistatin-related protein 4 isoform X3
XM_054352152.1 → XP_054208127.1 follistatin-related protein 4 isoform X4