FSTL5 follistatin like 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FSTL5provided by HGNC
Official Full Name: follistatin like 5provided by HGNC
Primary source: HGNC:HGNC:21386
See related: Ensembl:ENSG00000168843 MIM:620128; AllianceGenome:HGNC:21386
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 calcium ion binding activity. Predicted to be involved in cell differentiation. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in brain (RPKM 6.2), adrenal (RPKM 3.7) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 4q32.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (161383897..162164000, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (164734139..165551147, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (162305049..163085152, complement)

Chromosome 4 - NC_000004.12 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?

Genetic association and characterization of FSTL5 in isolated clubfoot.
Title: Genetic association and characterization of FSTL5 in isolated clubfoot.
Follistatin Like 5 (FSTL5) inhibits epithelial to mesenchymal transition in hepatocellular carcinoma.
Title: Follistatin Like 5 (FSTL5) inhibits epithelial to mesenchymal transition in hepatocellular carcinoma.
Mechanistic investigation demonstrated that FSTL5 promoted Hepatocellular carcinoma (HCC) cell apoptosis in a caspase-dependent manner and regulated Bcl-2 family proteins. These results indicate that FSTL5 may be a potential novel target for HCC treatment, and a biomarker for tumor prognosis.
Title: Follistatin-like protein 5 inhibits hepatocellular carcinoma progression by inducing caspase-dependent apoptosis and regulating Bcl-2 family proteins.
FSTL5 plays a suppressive role in hepatocellular carcinoma. Down-regulation of FSTL5 could promote growth and survival of HCC cells by activation of Wnt/beta-catenin signaling.
Title: Down-regulated FSTL5 promotes cell proliferation and survival by affecting Wnt/β-catenin signaling in hepatocellular carcinoma.
FSTL5 expression denoted a dismal prognosis both within and across medulloblastoma subgroups.
Title: FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma.
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.

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 novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. 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

D4S1598 (e-PCR), detects polymorphism
- UniSTS:35079

D4S1028 (e-PCR)
- UniSTS:64008

SHGC-143090 (e-PCR)
- UniSTS:171792

RH98482 (e-PCR)
- UniSTS:89883

RH119567 (e-PCR)
- UniSTS:132650

SHGC-141721 (e-PCR)
- UniSTS:171050

G32713 (e-PCR)
- UniSTS:117295

G10628 (e-PCR)
- UniSTS:67384

SHGC-50424 (e-PCR)
- UniSTS:20036

D4S393 (e-PCR), detects polymorphism
- UniSTS:42582

D4S1626 (e-PCR), detects polymorphism
- UniSTS:61283

RH121839 (e-PCR)
- UniSTS:134501

SHGC-82087 (e-PCR)
- UniSTS:103016

SHGC-82942 (e-PCR)
- UniSTS:96107

D4S2843 (e-PCR)
- UniSTS:23427

D4S928 (e-PCR)
- UniSTS:83080

D4S393 (e-PCR), detects polymorphism
- UniSTS:42635

SHGC-107459 (e-PCR)
- UniSTS:170382

D4S2658 (e-PCR)
- UniSTS:2705

SHGC-59701 (e-PCR)
- UniSTS:55957

SHGC-148680 (e-PCR)
- UniSTS:176546

SHGC-18462 (e-PCR)
- UniSTS:14244

SHGC-30815 (e-PCR)
- UniSTS:47533

G65679 (e-PCR)
- UniSTS:225471

RH35825 (e-PCR)
- UniSTS:1217

D4S1653 (e-PCR), detects polymorphism
- UniSTS:45006

D4S2419 (e-PCR)
- UniSTS:1496

SHGC-78864 (e-PCR)
- UniSTS:95713

G10392 (e-PCR)
- UniSTS:61922

SHGC-84804 (e-PCR)
- UniSTS:104170

AFM296vd1 (e-PCR), detects polymorphism
- UniSTS:90364

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor 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

General protein information

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Preferred Names: follistatin-related protein 5

Names: follistatin-like protein 5

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_001128427.3 → NP_001121899.1 follistatin-related protein 5 isoform b precursor

See identical proteins and their annotated locations for NP_001121899.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AA350666, AB033089, BI549596, DA243182

Consensus CDS

CCDS47158.1

UniProtKB/Swiss-Prot

Q8N475

Related

ENSP00000368462.4, ENST00000379164.8

Conserved Domains (8) summary

cd05736
Location:357 → 432

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

smart00408
Location:262 → 324

IGc2; Immunoglobulin C-2 Type

smart00410
Location:259 → 338

IG_like; Immunoglobulin like

COG3391
Location:505 → 733

YncE; DNA-binding beta-propeller fold protein YncE [General function prediction only]

cd00104
Location:92 → 132

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:340 → 429

I-set; Immunoglobulin I-set domain

pfam13499
Location:181 → 241

EF-hand_7; EF-hand domain pair

cl08302
Location:179 → 242

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 ...
NM_001128428.3 → NP_001121900.1 follistatin-related protein 5 isoform c precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site and lacks an exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AA350666, AB033089, AK315152, BI549596, DA243182

Consensus CDS

CCDS47157.1

UniProtKB/Swiss-Prot

Q8N475

Related

ENSP00000389270.2, ENST00000427802.2

Conserved Domains (8) summary

cd05736
Location:357 → 432

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

smart00408
Location:262 → 324

IGc2; Immunoglobulin C-2 Type

smart00410
Location:259 → 338

IG_like; Immunoglobulin like

COG3391
Location:496 → 724

YncE; DNA-binding beta-propeller fold protein YncE [General function prediction only]

cd00104
Location:92 → 132

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:340 → 429

I-set; Immunoglobulin I-set domain

pfam13499
Location:181 → 241

EF-hand_7; EF-hand domain pair

cl08302
Location:179 → 242

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 ...
NM_020116.5 → NP_064501.2 follistatin-related protein 5 isoform a precursor

See identical proteins and their annotated locations for NP_064501.2

Status: VALIDATED

Description

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

Source sequence(s)

AA350666, AB033089, BC036502, BI549596, DA243182

Consensus CDS

CCDS3802.1

UniProtKB/Swiss-Prot

E9PCP6, Q8N475, Q9NSW7, Q9ULF7

Related

ENSP00000305334.4, ENST00000306100.10

Conserved Domains (8) 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:263 → 325

IGc2; Immunoglobulin C-2 Type

smart00410
Location:260 → 339

IG_like; Immunoglobulin like

COG3391
Location:506 → 734

YncE; DNA-binding beta-propeller fold protein YncE [General function prediction only]

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

pfam13499
Location:182 → 242

EF-hand_7; EF-hand domain pair

cl08302
Location:180 → 243

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

161383897..162164000 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011532126.1 → XP_011530428.1 follistatin-related protein 5 isoform X1

Conserved Domains (8) 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:263 → 325

IGc2; Immunoglobulin C-2 Type

smart00410
Location:260 → 339

IG_like; Immunoglobulin like

COG3391
Location:497 → 725

YncE; DNA-binding beta-propeller fold protein YncE [General function prediction only]

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

pfam13499
Location:182 → 242

EF-hand_7; EF-hand domain pair

cl08302
Location:180 → 243

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 ...

Alternate T2T-CHM13v2.0

Genomic

NC_060928.1 Alternate T2T-CHM13v2.0

Range

164734139..165551147 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350538.1 → XP_054206513.1 follistatin-related protein 5 isoform X2

UniProtKB/Swiss-Prot

E9PCP6, Q8N475, Q9NSW7, Q9ULF7
XM_054350539.1 → XP_054206514.1 follistatin-related protein 5 isoform X3