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

Gene ID: 10447, updated on 24-Nov-2020

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
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

Genomic context

See FAM3C in Genome Data Viewer
Location:
7q31.31
Exon count:
12
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (121348851..121396369, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (120988905..121036422, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cadherin like and PC-esterase domain containing 1 Neighboring gene RNA, U6 small nuclear 517, pseudogene Neighboring gene Wnt family member 16 Neighboring gene Sharpr-MPRA regulatory region 7081 Neighboring gene CYCS pseudogene 19

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

Associated conditions

Description Tests
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
GeneReviews: Not available
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.
GeneReviews: Not available
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.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    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
    Q92520
    Related
    ENSP00000353025.3, ENST00000359943.8
    Conserved Domains (1) summary
    cd13940
    Location:53223
    ILEI_FAM3C; Interleukin-like EMT inducer

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    121348851..121396369 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011514038.1

    UniProtKB/Swiss-Prot
    Q92520
    Conserved Domains (1) summary
    cd13940
    Location:53223
    ILEI_FAM3C; Interleukin-like EMT inducer
  2. XM_011515737.2XP_011514039.1  protein FAM3C isoform X1

    See identical proteins and their annotated locations for XP_011514039.1

    UniProtKB/Swiss-Prot
    Q92520
    Conserved Domains (1) summary
    cd13940
    Location:53223
    ILEI_FAM3C; Interleukin-like EMT inducer
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