TG (thyroglobulin)

Gene

• Entrez ID: 7038
• Gene name: Thyroglobulin
• Gene symbol: TG
• Synonyms: AITD3, TGN
• Chromosome: 8
• Chromosome location: 8q24.22
• Summary: Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobul

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs180195	A>C,G	Risk-factor	Upstream transcript variant
rs180223	T>A,C,G	Benign, likely-benign, risk-factor	Missense variant, coding sequence variant
rs853326	A>G	Benign, likely-benign, risk-factor	Missense variant, coding sequence variant
rs2076739	T>A	Pathogenic	Missense variant, coding sequence variant
rs2076740	C>T	Benign, likely-benign, risk-factor	Missense variant, coding sequence variant
rs16904774	G>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, missense variant
rs121912646	C>G,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs121912647	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912648	C>T	Pathogenic	Stop gained, coding sequence variant
rs121912649	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912650	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs137854433	T>C	Pathogenic	Missense variant, coding sequence variant
rs137854434	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs142698837	G>A	Uncertain-significance, pathogenic	Intron variant, coding sequence variant, missense variant
rs146293727	G>A,C,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs190979363	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs199599591	C>A,T	Pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant
rs774274702	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs775401701	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs778849740	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs898275076	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1412480668	G>C	Likely-pathogenic	Splice acceptor variant
rs1554648860	C>T	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554649344	->C	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554662694	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554681801	AAAGACACAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1587166863	C>G	Pathogenic	Intron variant
rs1587178555	G>A	Pathogenic	Splice donor variant
rs1587248925	->GTTAAGGTTAAG	Likely-pathogenic	Stop gained, inframe indel, coding sequence variant
rs1587618417	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1587678058	G>C	Pathogenic	Intron variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032091	hsa-let-7f-5p	qRT-PCR	19956384
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT652749	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT652748	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT452349	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT452348	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT452347	hsa-miR-4257	PAR-CLIP	23592263
MIRT452346	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT452345	hsa-miR-1827	PAR-CLIP	23592263
MIRT452344	hsa-miR-5702	PAR-CLIP	23592263
MIRT452343	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT452342	hsa-miR-3612	PAR-CLIP	23592263
MIRT452341	hsa-miR-650	PAR-CLIP	23592263
MIRT452340	hsa-miR-4792	PAR-CLIP	23592263
MIRT452339	hsa-miR-4710	PAR-CLIP	23592263
MIRT452338	hsa-miR-937-5p	PAR-CLIP	23592263
MIRT452337	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT452336	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT735405	hsa-miR-24-3p	qRT-PCR	32226248
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT652749	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT652748	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT452349	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT452348	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT452347	hsa-miR-4257	PAR-CLIP	23592263
MIRT452346	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT452345	hsa-miR-1827	PAR-CLIP	23592263
MIRT452344	hsa-miR-5702	PAR-CLIP	23592263
MIRT452343	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT452342	hsa-miR-3612	PAR-CLIP	23592263
MIRT452341	hsa-miR-650	PAR-CLIP	23592263
MIRT452340	hsa-miR-4792	PAR-CLIP	23592263
MIRT452339	hsa-miR-4710	PAR-CLIP	23592263
MIRT452338	hsa-miR-937-5p	PAR-CLIP	23592263
MIRT452337	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT452336	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT756175	hsa-miR-122-5p	Luciferase reporter assay, Western blotting, qRT-PCR, RNA pull down assay	36674813

Transcription factors

Transcription factor	Regulation	Reference
KCNIP3	Unknown	15181011
PAX8	Repression	17614769
PPARG	Repression	17614769

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	18687776
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IDA	8626858, 11082042
GO:0006590	Process	Thyroid hormone generation	IBA	21873635
GO:0006590	Process	Thyroid hormone generation	IDA	32025030
GO:0006590	Process	Thyroid hormone generation	ISS
GO:0007165	Process	Signal transduction	NAS	3016640
GO:0015705	Process	Iodide transport	IEA
GO:0030878	Process	Thyroid gland development	IEP	15494458
GO:0031641	Process	Regulation of myelination	IEA
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042802	Function	Identical protein binding	IDA	8626858, 32025030

Other IDs

• MIM: 188450
• HGNC: 11764
• e!Ensembl: ENSG00000042832

Protein

• UniProt ID: P01266
• Protein name: Thyroglobulin (Tg)
• Protein function: Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3) (PubMed:17532758, PubMed:32025030). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin fo
• PDB: 6SCJ, 7B75
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00086	Thyroglobulin_1	34 → 92	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	96 → 160	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	169 → 251	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	301 → 358	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	597 → 658	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	662 → 726	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	730 → 801	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	1006 → 1073	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	1077 → 1149	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	1149 → 1210	Thyroglobulin type-1 repeat	Domain
  PF07699	Ephrin_rec_like	1465 → 1510	Putative ephrin-receptor like	Family
  PF00135	COesterase	2197 → 2718	Carboxylesterase family	Domain

• Sequence:

  MALVLEIFTLLASICWVSANIFEYQVDAQPLRPCELQRETAFLKQADYVPQCAEDGSFQT
  VQCQNDGRSCWCVGANGSEVLGSRQPGRPVACLSFCQLQKQQILLSGYINSTDTSYLPQC
  QDSGDYAPVQCDVQQVQCWCVDAEGMEVYGTRQLGRPKRCPRSCEIRNRRLLHGVGDKSP
  PQCSAEGEFMPVQCKFVNTTDMMIFDLVHSYNRFPDAFVTFSSFQRRFPEVSGYCHCADS
  QGRELAETGLELLLDEIYDTIFAGLDLPSTFTETTLYRILQRRFLAVQSVISGRFRCPTK
  CEVERFTATSFGHPYVPSCRRNGDYQAVQCQTEGPCWCVDAQGKEMHGTRQQGEPPSCAE
  GQSCASERQQALSRLYFGTSGYFSQHDLFSSPEKRWASPRVARFATSCPPTIKELFVDSG
  LLRPMVEGQSQQFSVSENLLKEAIRAIFPSRGLARLALQFTTNPKRLQQNLFGGKFLVNV
  GQFNLSGALGTRGTFNFSQFFQQLGLASFLNGGRQEDLAKPLSVGLDSNSSTGTPEAAKK
  DGTMNKPTVGSFGFEINLQENQNALKFLASLLELPEFLLFLQHAISVPEDVARDLGDVME
  TVLSSQTCEQTPERLFVPSCTTEGSYEDVQCFSGECWCVNSWGKELPGSRVRGGQPRCPT
  DCEKQRARMQSLMGSQPAGSTLFVPACTSEGHFLPVQCFNSECYCVDAEGQAIPGTRSAI
  GKPKKCPTPCQLQSEQAFLRTVQALLSNSSMLPTLSDTYIPQCSTDGQWRQVQCNGPPEQ
  VFELYQRWEAQNKGQDLTPAKLLVKIMSYREAASGNFSLFIQSLYEAGQQDVFPVLSQYP
  SLQDVPLAALEGKRPQPRENILLEPYLFWQILNGQLSQYPGSYSDFSTPLAHFDLRNCWC
  VDEAGQELEGMRSEPSKLPTCPGSCEEAKLRVLQFIRETEEIVSASNSSRFPLGESFLVA
  KGIRLRNEDLGLPPLFPPREAFAEQFLRGSDYAIRLAAQSTLSFYQRRRFSPDDSAGASA
  LLRSGPYMPQCDAFGSWEPVQCHAGTGHCWCVDEKGGFIPGSLTARSLQIPQCPTTCEKS
  RTSGLLSSWKQARSQENPSPKDLFVPACLETGEYARLQASGAGTWCVDPASGEELRPGSS
  SSAQCPSLCNVLKSGVLSRRVSPGYVPACRAEDGGFSPVQCDQAQGSCWCVMDSGEEVPG
  TRVTGGQPACESPRCPLPFNASEVVGGTILCETISGPTGSAMQQCQLLCRQGSWSVFPPG
  PLICSLESGRWESQLPQPRACQRPQLWQTIQTQGHFQLQLPPGKMCSADYADLLQTFQVF
  ILDELTARGFCQIQVKTFGTLVSIPVCNNSSVQVGCLTRERLGVNVTWKSRLEDIPVASL
  PDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGC
  SEGFYQVLTSEASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTI
  SAGAFSQTHCVTDCQRNEAGLQCDQNGQYRASQKDRGSGKAFCVDGEGRRLPWWETEAPL
  EDSQCLMMQKFEKVPESKVIFDANAPVAVRSKVPDSEFPVMQCLTDCTEDEACSFFTVST
  TEPEISCDFYAWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKK
  GQGSTTTLQKRFEPTGFQNMLSGLYNPIVFSASGANLTDAHLFCLLACDRDLCCDGFVLT
  QVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATCPGVTYDQESHQVILRLGDQEFIK
  SLTPLEGTQDTFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVD
  LNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQEHSFCQLAEITESASLYFTCT
  LYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRN
  KVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENG
  GAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVVLPSLTEKVSLDSWQSLALSS
  VVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADT
  QSCTHSLQGQNCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGT
  SWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKPRASCWQPGTRTSTSPGVSED
  CLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVF
  GFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTAR
  ATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEVSCPMSSSQEVVSCLRQKPAN
  VLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRA
  KAVKQFEESRGRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRAL
  ENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHGSLELLADVQFALGLPFYPAY
  EGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEF
  SELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQE
  PGSKTYSK

• Sequence length: 2768

Pathways

KEGG:

Thyroid hormone synthesis
Autoimmune thyroid disease

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	30595370, 27869686, 30595370
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670	27525530
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605	27182965, 30595370
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Thyroid dyshormonogenesis	Thyroid Dyshormonogenesis 3, Thyroid Dyshormonogenesis 1, Familial thyroid dyshormonogenesis	rs119472026, rs119472027, rs119472028, rs119472029, rs530719719, rs199589510, rs191759494, rs567500345, rs180671269, rs748194265, rs748793969, rs754179275, rs368975704, rs200592893, rs1566977567, rs1566978577, rs752635135, rs376983373	20410234, 28345837, 17532758, 16477365, 21128992, 10404833, 19509106, 27305979, 27525530, 17244789, 14764776, 15769978, 26813946, 10199792, 23164529, 20537182, 21543982

Unknown
Disease name	Disease term	dbSNP ID	References
Anxiety disorder	Anxiety Disorders, Anxiety States, Neurotic		30373627
Autoimmune thyroiditis	Autoimmune thyroiditis		29385629
Compensated hypothyroidism	Compensated hypothyroidism
Congenital exomphalos	Congenital exomphalos
Dwarfism	Dwarfism		24582622
Endemic goiter	Endemic goiter
Graves disease	Graves Disease		23612905
Hashimoto disease	Hashimoto Disease		30373627
Hypersomnia	Hypersomnia
Macroglossia	Macroglossia
Melancholia	Melancholia		30373627
Mental depression	Endogenous depression, Depressive disorder, Unipolar Depression, Depressive Syndrome, Depression, Neurotic	rs587778876, rs587778877	30373627
Thyroid carcinoma	Thyroid carcinoma
Thyroiditis	Thyroiditis
Vitiligo	Vitiligo		22561518, 27723757