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

Gene ID: 10447, updated on 5-Mar-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
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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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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

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