U.S. flag

An official website of the United States government

TTR transthyretin [ Homo sapiens (human) ]

Gene ID: 7276, updated on 4-Jan-2025

Summary

Official Symbol
TTRprovided by HGNC
Official Full Name
transthyretinprovided by HGNC
Primary source
HGNC:HGNC:12405
See related
Ensembl:ENSG00000118271 MIM:176300; AllianceGenome:HGNC:12405
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
CTS; TTN; ATTR; CTS1; PALB; TBPA; HEL111; HsT2651
Summary
This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal fluid. It is also involved in the transport of retinol (vitamin A) in the plasma by associating with retinol-binding protein. The protein may also be involved in other intracellular processes including proteolysis, nerve regeneration, autophagy and glucose homeostasis. Mutations in this gene are associated with amyloid deposition, predominantly affecting peripheral nerves or the heart, while a small percentage of the gene mutations are non-amyloidogenic. The mutations are implicated in the etiology of several diseases, including amyloidotic polyneuropathy, euthyroid hyperthyroxinaemia, amyloidotic vitreous opacities, cardiomyopathy, oculoleptomeningeal amyloidosis, meningocerebrovascular amyloidosis and carpal tunnel syndrome. [provided by RefSeq, Aug 2017]
Expression
Restricted expression toward liver (RPKM 2070.5) See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See TTR in Genome Data Viewer
Location:
18q12.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31591877..31598821)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31782391..31789335)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (29171840..29178784)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene desmoglein 3 Neighboring gene VISTA enhancer hs2166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13199 Neighboring gene NANOG hESC enhancer GRCh37_chr18:29096289-29096832 Neighboring gene desmoglein 2 Neighboring gene DSG2 antisense RNA 1 Neighboring gene uncharacterized LOC124904277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13200 Neighboring gene beta-1,4-galactosyltransferase 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13202 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13203 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13204 Neighboring gene uncharacterized LOC124904361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13205 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9385 Neighboring gene RN7SK pseudogene 44

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

EBI GWAS Catalog

Description
Genome-wide association study of circulating retinol levels.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of transthyretin (TTR) in primary human brain microvascular endothelial cells PubMed
tat The DNA repair gene DNA-PKcs and cell cycle-related genes Cdc20, Cdc25C, KIF2C and CTS1 are downregulated in HIV-1 Tat-expressing human rhabdomyosarcoma cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables hormone activity  
enables identical protein binding PubMed 
enables protein binding PubMed 
Process Evidence Code Pubs
involved_in purine nucleobase metabolic process  
involved_in signal transduction  

General protein information

Preferred Names
transthyretin
Names
epididymis luminal protein 111
prealbumin, amyloidosis type I
thyroxine-binding prealbumin

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.

Genomic

  1. NG_009490.1 RefSeqGene

    Range
    5001..12258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_416

mRNA and Protein(s)

  1. NM_000371.4NP_000362.1  transthyretin precursor

    See identical proteins and their annotated locations for NP_000362.1

    Status: REVIEWED

    Source sequence(s)
    BC020791
    Consensus CDS
    CCDS11899.1
    UniProtKB/Swiss-Prot
    P02766, Q549C7, Q6IB96, Q9UBZ6, Q9UCM9
    UniProtKB/TrEMBL
    A6XMH1, E9KL36
    Related
    ENSP00000237014.4, ENST00000237014.8
    Conserved Domains (1) summary
    smart00095
    Location:27147
    TR_THY; Transthyretin

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    31591877..31598821
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    31782391..31789335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
External link. Please review our privacy policy.