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    FSTL5 follistatin like 5 [ Homo sapiens (human) ]

    Gene ID: 56884, updated on 2-Nov-2024

    Summary

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    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 and regulation of BMP signaling pathway. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    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

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    See FSTL5 in Genome Data Viewer
    Location:
    4q32.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (161383897..162164000, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (164734139..165551147, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (162305049..163085152, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377514 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75287 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75306 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:162017778-162018000 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75339 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75379 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75396 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:162118905-162119539 Neighboring gene uncharacterized LOC105377515 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75444 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15779 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75511 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:162314653-162315207 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:162446057-162446894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22094 Neighboring gene Sharpr-MPRA regulatory region 7835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:162743095-162743596 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:162748311-162748812 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:162748813-162749312 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:162857394-162858593 Neighboring gene uncharacterized LOC101928052 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75539 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75545 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22095 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75628 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 4 Neighboring gene uncharacterized LOC124900803 Neighboring gene uncharacterized LOC124900804

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Follistatin Like 5 (FSTL5) inhibits epithelial to mesenchymal transition in hepatocellular carcinoma. Zhang DY, et al. Chin Med J (Engl), 2020 Aug 5. PMID 32740091, Free PMC Article
    2. FSTL5 is a marker of poor prognosis in non-WNT/non-SHH medulloblastoma. Remke M, et al. J Clin Oncol, 2011 Oct 10. PMID 21911727
    3. Follistatin-like protein 5 inhibits hepatocellular carcinoma progression by inducing caspase-dependent apoptosis and regulating Bcl-2 family proteins. Li C, et al. J Cell Mol Med, 2018 Dec. PMID 30255547, Free PMC Article
    4. Down-regulated FSTL5 promotes cell proliferation and survival by affecting Wnt/β-catenin signaling in hepatocellular carcinoma. Zhang D, et al. Int J Clin Exp Pathol, 2015. PMID 26045876, Free PMC Article
    5. A novel colorectal cancer risk locus at 4q32.2 identified from an international genome-wide association study. Schmit SL, et al. Carcinogenesis, 2014 Nov. PMID 25023989, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic association and characterization of FSTL5 in isolated clubfoot.
      Title: Genetic association and characterization of FSTL5 in isolated clubfoot.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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
    Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1263, DKFZp566D234

    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 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)

    1. 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 ...

    2. 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 ...

    3. 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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      161383897..162164000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      164734139..165551147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      E9PCP6, Q8N475, Q9NSW7, Q9ULF7

    2. XM_054350539.1 → XP_054206514.1  follistatin-related protein 5 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N475.2 GenPept UniProtKB/Swiss-Prot:Q8N475

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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