FAM46A

Protein FAM46A is a protein that in humans is encoded by the FAM46A gene. Aliases for Fam46A include HBV X-Transactivated Gene 11 Protein, C6orf37, and XTP11.^[5] The gene contains 6 introns, and is 6982 base pairs long.^[6] The transcribed mRNA is 2231 base pairs long and contains 2 exons, 589 and 1128 base pairs, with 4 alternative splice isoforms.^[7]

TENT5A
Identifiers
Aliases	TENT5A, C6orf37, XTP11, family with sequence similarity 46 member A, terminal nucleotidyltransferase 5A, FAM46A, OI18
External IDs	OMIM: 611357; MGI: 2670964; HomoloGene: 23032; GeneCards: TENT5A; OMA:TENT5A - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q14.1 Start 81,491,439 bp[1] End 81,752,774 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 E3.1 Start 85,202,492 bp[2] End 85,209,401 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland tibia pericardium trachea nipple trabecular bone right ventricle skin of hip vena cava cartilage tissue Top expressed in molar body of femur otolith organ calvaria utricle conjunctival fornix left colon umbilical cord ciliary body salivary gland More reference expression data BioGPS More reference expression data
Orthologs Species Human Mouse Entrez 55603 212943 Ensembl ENSG00000112773 ENSMUSG00000032265 UniProt Q96IP4 D3Z5S8 RefSeq (mRNA) NM_017633 NM_001160378 NM_001160379 RefSeq (protein) NP_060103 NP_001153850 NP_001153851 Location (UCSC) Chr 6: 81.49 – 81.75 Mb Chr 9: 85.2 – 85.21 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Expression

Expression of Fam46A is found to be exceptionally high in Placental tissue, Pineal Gland, and Pituitary Gland with low to moderate expression within Bone Marrow, Uterus, and Salivary glands.^[8]

Protein

The human FAM46A protein is 461 Amino Acids long.^[9]

Function

The function of Fam46A is currently unknown but there is a Variable Number Tandem Repeat in the first exon of Fam46A that has been explored within various populations and have been attempted to be linked to various retinal diseases as well as colon cancer.^[10][11]