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

    Gene ID: 10447, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FAM3C in Genome Data Viewer
    Location:
    7q31.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (121348878..121396396, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (122664194..122711727, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    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)

    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_001040020.2NP_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:53223
      ILEI_FAM3C; Interleukin-like EMT inducer
    2. NM_014888.3NP_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:53223
      ILEI_FAM3C; Interleukin-like EMT inducer

    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_000007.14 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    2. XM_011515736.3XP_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:53223
      ILEI_FAM3C; Interleukin-like EMT inducer
    3. XM_047419771.1XP_047275727.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    4. XM_047419773.1XP_047275729.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    5. XM_011515737.3XP_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:53223
      ILEI_FAM3C; Interleukin-like EMT inducer
    6. XM_047419772.1XP_047275728.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    7. XM_047419774.1XP_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_054357086.1XP_054213061.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    2. XM_054357085.1XP_054213060.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    3. XM_054357081.1XP_054213056.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    4. XM_054357083.1XP_054213058.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    5. XM_054357087.1XP_054213062.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    6. XM_054357082.1XP_054213057.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520
    7. XM_054357084.1XP_054213059.1  protein FAM3C isoform X1

      UniProtKB/Swiss-Prot
      A6NDN2, A8K3R7, Q92520