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    FAM3C FAM3 metabolism regulating signaling molecule C [ Homo sapiens (human) ]

    Gene ID: 10447, updated on 5-May-2024

    Summary

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    Official Symbol
    FAM3Cprovided by HGNC
    Official Full Name
    FAM3 metabolism regulating signaling molecule Cprovided by HGNC
    Primary source
    HGNC:HGNC:18664
    See related
    Ensembl:ENSG00000196937 MIM:608618; AllianceGenome:HGNC:18664
    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
    ILEI; GS3786
    Summary
    This gene is a member of the family with sequence similarity 3 (FAM3) family and encodes a secreted protein with a GG domain. A change in expression of this protein has been noted in pancreatic cancer-derived cells. [provided by RefSeq, Mar 2010]
    Expression
    Ubiquitous expression in duodenum (RPKM 76.8), small intestine (RPKM 69.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM3C in Genome Data Viewer
    Location:
    7q31.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (121348878..121396396, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (122664194..122711727, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (120988932..121036362, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cadherin like and PC-esterase domain containing 1 Neighboring gene uncharacterized LOC124901735 Neighboring gene RNA, U6 small nuclear 517, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:120931342-120931494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26561 Neighboring gene Wnt family member 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26562 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:121025354-121025551 Neighboring gene hESC enhancers GRCh37_chr7:121035399-121035984 and GRCh37_chr7:121035985-121036569 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18576 Neighboring gene CYCS pseudogene 19 Neighboring gene Sharpr-MPRA regulatory region 7081 Neighboring gene ribosomal protein L18 pseudogene 4

    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
    • 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. Transcriptional downregulation of FAM3C/ILEI in the Alzheimer's brain. Watanabe N, et al. Hum Mol Genet, 2021 Dec 17. PMID 34378027
    2. Extracellular Release of ILEI/FAM3C and Amyloid-β Is Associated with the Activation of Distinct Synapse Subpopulations. Nakano M, et al. J Alzheimers Dis, 2021. PMID 33492290
    3. Genetic variants in the FAM3C gene are associated with lipid traits in Chinese children. Song Q, et al. Pediatr Res, 2021 Feb. PMID 32316026
    4. Overexpression of FAM3C is associated with poor prognosis in oral squamous cell carcinoma. Wu CC, et al. Pathol Res Pract, 2019 Apr. PMID 30683473
    5. Covalent dimerization of interleukin-like epithelial-to-mesenchymal transition (EMT) inducer (ILEI) facilitates EMT, invasion, and late aspects of metastasis. Kral M, et al. FEBS J, 2017 Oct. PMID 28837266

    See all (64) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FAM3C in Cancer-Associated Adipocytes Promotes Breast Cancer Cell Survival and Metastasis.
      Title: FAM3C in Cancer-Associated Adipocytes Promotes Breast Cancer Cell Survival and Metastasis.
    2. FAM3C in circulating tumor-derived extracellular vesicles promotes non-small cell lung cancer growth in secondary sites.
      Title: FAM3C in circulating tumor-derived extracellular vesicles promotes non-small cell lung cancer growth in secondary sites.
    3. Transcriptional downregulation of FAM3C/ILEI in the Alzheimer's brain.
      Title: Transcriptional downregulation of FAM3C/ILEI in the Alzheimer's brain.
    4. Genetic variants in the FAM3C gene are associated with lipid traits in Chinese children.
      Title: Genetic variants in the FAM3C gene are associated with lipid traits in Chinese children.
    5. DEAH-box polypeptide 32 promotes hepatocellular carcinoma progression via activating the beta-catenin pathway.
      Title: DEAH-box polypeptide 32 promotes hepatocellular carcinoma progression via activating the β-catenin pathway.
    6. The FAM3C locus that encodes interleukin-like EMT inducer (ILEI) is frequently co-amplified in MET-amplified cancers and contributes to invasiveness.
      Title: The FAM3C locus that encodes interleukin-like EMT inducer (ILEI) is frequently co-amplified in MET-amplified cancers and contributes to invasiveness.
    7. Extracellular Release of ILEI/FAM3C and Amyloid-beta Is Associated with the Activation of Distinct Synapse Subpopulations.
      Title: Extracellular Release of ILEI/FAM3C and Amyloid-β Is Associated with the Activation of Distinct Synapse Subpopulations.
    8. miR-574-3p inhibits proliferation and invasion in esophageal cancer by targeting FAM3C and MAPK1.
      Title: miR-574-3p inhibits proliferation and invasion in esophageal cancer by targeting FAM3C and MAPK1.
    9. FAM3C-YY1-HSF1 pathway plays an important role in TGFbeta-triggered proliferation and migration of human breast cancer MDA-MB-231 cells.
      Title: FAM3C-YY1 axis is essential for TGFβ-promoted proliferation and migration of human breast cancer MDA-MB-231 cells via the activation of HSF1.
    10. ILEI signaling plays a role in the breast cancer tumor progression.ILEI binds to the cytokine receptor LIFR.
      Title: TGFβ promotes breast cancer stem cell self-renewal through an ILEI/LIFR signaling axis.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    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 large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
    EBI GWAS Catalog
    Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.
    EBI GWAS Catalog
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbohydrate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables cytokine activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    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 platelet dense granule lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM3C
    Names
    family with sequence similarity 3 member C
    interleukin-like EMT inducer
    interleukin-like epithelial-mesenchymal transition inducer
    predicted osteoblast protein

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001040020.2 → NP_001035109.1  protein FAM3C precursor

      See identical proteins and their annotated locations for NP_001035109.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC024200, CA446040, DA144459, DA501135
      Consensus CDS
      CCDS5782.1
      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
      Conserved Domains (1) summary
      cd13940
      Location:53 → 223
      ILEI_FAM3C; Interleukin-like EMT inducer

    2. NM_014888.3 → NP_055703.1  protein FAM3C precursor

      See identical proteins and their annotated locations for NP_055703.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC006364, AC079401
      Consensus CDS
      CCDS5782.1
      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
      Related
      ENSP00000353025.3, ENST00000359943.8
      Conserved Domains (1) summary
      cd13940
      Location:53 → 223
      ILEI_FAM3C; Interleukin-like EMT inducer

    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

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      121348878..121396396 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419775.1 → XP_047275731.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    2. XM_011515736.3 → XP_011514038.1  protein FAM3C isoform X1

      See identical proteins and their annotated locations for XP_011514038.1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
      Conserved Domains (1) summary
      cd13940
      Location:53 → 223
      ILEI_FAM3C; Interleukin-like EMT inducer

    3. XM_047419771.1 → XP_047275727.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    4. XM_047419773.1 → XP_047275729.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    5. XM_011515737.3 → XP_011514039.1  protein FAM3C isoform X1

      See identical proteins and their annotated locations for XP_011514039.1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
      Conserved Domains (1) summary
      cd13940
      Location:53 → 223
      ILEI_FAM3C; Interleukin-like EMT inducer

    6. XM_047419772.1 → XP_047275728.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    7. XM_047419774.1 → XP_047275730.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      122664194..122711727 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357086.1 → XP_054213061.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    2. XM_054357085.1 → XP_054213060.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    3. XM_054357081.1 → XP_054213056.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    4. XM_054357083.1 → XP_054213058.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    5. XM_054357087.1 → XP_054213062.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    6. XM_054357082.1 → XP_054213057.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520

    7. XM_054357084.1 → XP_054213059.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92520.1 GenPept UniProtKB/Swiss-Prot:Q92520

    Gene LinkOut

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

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