FAM3C

Protein FAM3C is a protein that in humans is encoded by the FAM3C gene.^[5][6]

FAM3C
Identifiers
Aliases	FAM3C, ILEI, GS3786, family with sequence similarity 3 member C, FAM3 metabolism regulating signaling molecule C
External IDs	OMIM: 608618; MGI: 107892; HomoloGene: 8926; GeneCards: FAM3C; OMA:FAM3C - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q31.31 Start 121,348,878 bp[1] End 121,396,364 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 A3.1|6 9.24 cM Start 22,306,519 bp[2] End 22,356,242 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in jejunal mucosa Achilles tendon Pons duodenum lateral nuclear group of thalamus germinal epithelium pericardium vulva endometrium mucosa of sigmoid colon Top expressed in neural layer of retina molar semi-lunar valve cumulus cell aortic valve epithelium of stomach ascending aorta Ileal epithelium urothelium mucous cell of stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function cytokine activity protein binding Cellular component extracellular exosome cytoplasmic vesicle platelet dense granule lumen extracellular region extracellular space Golgi apparatus Biological process multicellular organism development platelet degranulation regulation of signaling receptor activity biological process negative regulation of gluconeogenesis signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10447 27999 Ensembl ENSG00000196937 ENSMUSG00000029672 UniProt Q92520 Q91VU0 RefSeq (mRNA) NM_001040020 NM_014888 NM_138587 RefSeq (protein) NP_001035109 NP_055703 NP_613053 Location (UCSC) Chr 7: 121.35 – 121.4 Mb Chr 6: 22.31 – 22.36 Mb PubMed search [3] [4]
Wikidata
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Function

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. Alternate transcriptional splice variants which encode the same protein have been characterized.^[6] FAM3C functions and expression also were studied in mammalian brains^[7][8] which shown that a reduced FAM3C level associated to the onset of sporadic Alzheimer's disease (AD), which highlighted FAM3C as a promising therapeutic target for Alzheimer's disease. Moreover, level of FAM3C was claimed to be a biomarker for AD together with saposin D.^[9]