Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7038
Gene name	Thyroglobulin
Gene symbol	TG
Synonyms (NCBI Gene)	AITD3TGN
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

Show/Hide all (31)

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

159

Show/Hide all (159)

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 assayWestern blottingqRT-PCRRNA pull down assay	36674813

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

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	18687776
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	8626858, 11082042
GO:0005615	Component	Extracellular space	IEA
GO:0006590	Process	Thyroid hormone generation	IBA
GO:0006590	Process	Thyroid hormone generation	IDA	32025030
GO:0006590	Process	Thyroid hormone generation	IEA
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:0042403	Process	Thyroid hormone metabolic process	IEA
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042802	Function	Identical protein binding	IDA	8626858, 32025030
GO:0042802	Function	Identical protein binding	IEA

MIM	HGNC	e!Ensembl
188450	11764	ENSG00000042832

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

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in the thyroid gland. {ECO:0000269|PubMed:11082042, ECO:0000269|PubMed:19509106, ECO:0000269|PubMed:8626858}.

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

Interactions

View interactions

	KEGG
	Thyroid hormone synthesis Autoimmune thyroid disease

552

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoimmune thyroid disease, susceptibility to, 3	Pathogenic; Likely pathogenic	rs141306917, rs773142559, rs199599591, rs774274702, rs778743706, rs121912646, rs121912648, rs2069566, rs137854434, rs121912650, rs1398373161, rs776553164, rs2490067471, rs142308887, rs779043995 View all (7 more)	RCV005047649 RCV005047684 RCV005049468 RCV005042436 RCV005047430 RCV002482861 RCV002496346 RCV001329060 RCV005042036 RCV002496347 RCV005047682 RCV005047683 RCV005047733 RCV005047754 RCV005040483 RCV005044582 RCV005040582 RCV005040590 RCV005049542 RCV000662333 RCV005047032 RCV005040114
Congenital hypothyroidism	Likely pathogenic; Pathogenic	rs759267330, rs121912646, rs121912648, rs1587178555, rs374620255, rs1814692109, rs1815591671, rs1815680018, rs766130576, rs376200169, rs370991693	RCV006437041 RCV001270322 RCV001270319 RCV001270318 RCV000845082 RCV001270324 RCV001270321 RCV001270327 RCV001270328 RCV001270326 RCV001270320
Hypothyroidism	Likely pathogenic	rs1587618417	RCV000850357
Iodotyrosyl coupling defect	Likely pathogenic; Pathogenic	rs759267330, rs1852105706, rs141306917, rs773142559, rs2130888037, rs2536862352, rs2491114233, rs199599591, rs774274702, rs778743706, rs375424292, rs1587166863, rs121912646, rs121912647, rs2076739 View all (27 more)	RCV001329059 RCV001329062 RCV005047649 RCV005871210 RCV001785061 RCV002464969 RCV002466834 RCV000190631 RCV000207481 RCV003131724 RCV000778853 RCV000013526 RCV000013528 RCV000013530 RCV000013531 RCV000013532 RCV000013536 RCV000013537 RCV000013538 RCV000013539 RCV000013540 RCV000013542 RCV000013543 RCV003447814 RCV005047682 RCV005047683 RCV005047733 RCV005047754 RCV005040483 RCV005044582 RCV005040582 RCV005040590 RCV003990754 RCV005049542 RCV000503286 RCV000656568 RCV005046850 RCV000778925 RCV002223175 RCV001170075 RCV001175129 RCV005040114
TG-related disorder	Pathogenic; Likely pathogenic	rs116726914, rs121912646, rs121912648, rs778849740, rs137854434, rs144875913, rs2491035032, rs1166051735, rs2490314665, rs1464861162, rs898275076, rs374620255	RCV005409280 RCV004737147 RCV004586002 RCV005055513 RCV004579530 RCV003388564 RCV004555654 RCV004555659 RCV004579621 RCV005063188 RCV003323659 RCV004586954

Show/Hide Unknown Diseases (24)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	rs61741457, rs77157347, rs143075252	RCV005892641 RCV005899319 RCV005907729
Cervical cancer	Uncertain significance; Benign	rs759533889, rs12114109	RCV005869395 RCV005899326
Cholangiocarcinoma	Benign	rs13256652	RCV005914778
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs61741457	RCV005892645
Clear cell carcinoma of kidney	Benign	rs12114109, rs2294003	RCV005899327 RCV005902998
Colon adenocarcinoma	Benign	rs2294003	RCV005902997
Familial cancer of breast	Benign; Uncertain significance	rs2294023, rs759533889	RCV005915641 RCV005869394
Familial pancreatic carcinoma	Benign; Likely benign	rs61741457	RCV005892644
Familial thyroid dyshormonogenesis	Uncertain significance; Conflicting classifications of pathogenicity	rs759533889, rs772388199	RCV006273011 RCV006273010
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs2702998, rs374108215	RCV005918666 RCV005904379
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs142124591	RCV001374524
Lung cancer	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs13256652, rs759533889, rs12114109, rs190979363	RCV005914779 RCV005869397 RCV005899330 RCV005900783
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	rs759533889	RCV005869396
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs61741457, rs12114109	RCV005892642 RCV005899325
Ovarian cancer	Benign; Likely benign	rs61741457	RCV005892643
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign	rs962149524, rs116417639, rs16904799, rs190979363	RCV005927247 RCV005899317 RCV005899322 RCV005900782
Premature ovarian failure	Conflicting classifications of pathogenicity	rs2229843	RCV001002732
Prostate cancer	Uncertain significance	rs193920926	RCV000149144
Sarcoma	Benign	rs16904799	RCV005899321
See cases	Uncertain significance	rs114900396	RCV004584543
Thymoma	Benign	rs2294023, rs77157347, rs12114109	RCV005915643 RCV005899320 RCV005899328
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign	rs115436575, rs114944116, rs12114109, rs16904799, rs374108215	RCV005899324 RCV005899318 RCV005899329 RCV005899323 RCV005904380
Uterine carcinosarcoma	Benign	rs2294023	RCV005915642
Uterine corpus endometrial carcinoma	Benign	rs12114109	RCV005899331

Show/Hide Text Mining Associations (69)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	36689061
Adenoma	Inhibit	12034881
Adenoma	Associate	12480920
Adrenal Gland Diseases	Associate	23510370
Adrenal incidentaloma	Associate	27758132
Anaplastic small cell lymphoma	Associate	27834723
Ataxia Telangiectasia	Associate	27623139
Autoimmune Diseases	Associate	1082389
Bamforth syndrome	Associate	24219130
Brain Diseases	Stimulate	37853680
Carcinoma	Associate	11076659
Carcinoma Medullary	Associate	11437410
Carcinoma Papillary	Associate	21060764
Carcinoma Small Cell	Associate	23844610
Chondrosarcoma	Associate	34425503
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	28207517
Chronic Urticaria	Associate	34539625
Congenital bilateral aplasia of vas deferens	Associate	17921382
Congenital Hypothyroidism	Associate	10377248, 18596923, 20410234, 23035660, 27834723, 28060725, 29720101, 31868128, 33581410, 33832185, 36012511, 9185526
Death	Associate	32092093
Diabetes Mellitus Type 1	Associate	23480181
Goiter	Associate	1752952, 18187871, 20410234, 23457313, 28867693, 31178475, 33832185, 7635972, 9790265
Goiter	Inhibit	35966064
Goiter Multinodular 2	Associate	3799599
Graves Disease	Associate	14971052, 22662162, 2569950, 26016954, 28675712, 30113675, 7615799
Graves Disease	Stimulate	1914236
Graves Disease	Inhibit	29752312
Graves Ophthalmopathy	Associate	36554821
Growth Disorders	Associate	31178475
Hashimoto Disease	Associate	14971052, 16206515, 17459075, 20408864, 25380293, 27136204, 28675712, 30113675, 30332318, 30926877, 3499269
Hashimoto's encephalitis	Associate	31585887
Hypothyroidism	Associate	1752952, 20410234, 21636579, 31178475, 9790265
Hypothyroidism	Stimulate	29459556
Hypothyroidism Autoimmune	Associate	26963610
IgG Deficiency	Stimulate	2835260
Insulin Like Growth Factor I Deficiency	Associate	26188228
Intellectual Disability	Associate	20410234
Latent Autoimmune Diabetes in Adults	Associate	26884287
Lipid Metabolism Disorders	Associate	38164867
Lymphatic Metastasis	Associate	23900865, 27841128, 33912138, 36875475, 40018022
Lymphatic Metastasis	Inhibit	36658256
Lymphedema	Associate	7635972
Lymphoma Large B Cell Diffuse	Associate	34425503
Lymphoma Non Hodgkin	Associate	20410234
Mental Retardation Autosomal Recessive 1	Associate	31178475
Mixed Tumor Malignant	Associate	32769997
Neoplasm Metastasis	Associate	27236916, 28207517, 28704384, 29022644, 33912138, 37853680
Neoplasms	Associate	16091757, 18602667, 21060764, 23844610, 28089356, 28249616, 28855631, 30794342, 31699114, 32124226, 32390944, 34997561, 36658256, 40214375
Neoplasms	Stimulate	33813463
Papillary Thyroid Microcarcinoma	Associate	36941725
Primary Ovarian Insufficiency	Associate	20864102, 22265031
Sitosterolemia	Associate	26813946
Tertiary Lymphoid Structures	Associate	33912138, 40018022
Thyroid Adenoma Hyperfunctioning	Associate	16206515
Thyroid cancer medullary	Associate	27841128, 34425503
Thyroid Cancer Papillary	Associate	10420227, 19255327, 21814573, 23900865, 25010624, 26914549, 27236916, 27834723, 28207517, 28855631, 33912138, 36357113, 36658256, 40018022
Thyroid Cancer Papillary	Stimulate	30924920, 37853680
Thyroid Carcinoma Anaplastic	Inhibit	22688732
Thyroid Carcinoma Anaplastic	Associate	26289851, 27841128, 2848260, 29242405, 34425503
Thyroid Diseases	Associate	10817499, 12782763, 33600668, 38003522, 38164867
Thyroid Dysgenesis	Associate	21450989, 28060725
Thyroid Dyshormonogenesis 1	Associate	31178475, 33581410, 36012511
Thyroid Dyshormonogenesis 2A	Associate	28867693
Thyroid Hormone Resistance Syndrome	Associate	17827792, 27758132
Thyroid Neoplasms	Associate	11076659, 12782763, 16080577, 16091757, 1699752, 22890443, 23186033, 25010624, 25720709, 27493271, 27623139, 28089356, 28207517, 28509618, 28704384 View all (6 more)
Thyroiditis	Associate	12480920, 2390468, 28644858, 30924920, 31178475, 38164867, 9790265
Thyroiditis Autoimmune	Associate	11549579, 14971052, 18559906, 21757724, 22169789, 22309426, 22662162, 26963610, 28675712, 30113675, 30926877, 32597152, 34104248, 35843716
Thyroiditis Chronic	Associate	17827792
Thyroiditis Chronic	Stimulate	22515161

TG (thyroglobulin)