SLC26A7

Summary

SLC26A7 (solute carrier family 26 member 7, HGNC:14467) is a protein-coding gene on chromosome 8q21.3, encoding Anion exchange transporter (Q8TE54). Acts as an anion channel mediating the transport of chloride, sulfate and oxalate ions.

This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. This gene has abundant and specific expression in the kidney. Alternatively spliced transcript variants that encode different isoforms have been described.

Source: NCBI Gene 115111 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital hypothyroidism (Strong, GenCC)
• GWAS associations: 7
• Clinical variants (ClinVar): 123 total — 1 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_052832

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14467
Approved symbol	SLC26A7
Name	solute carrier family 26 member 7
Location	8q21.3
Locus type	gene with protein product
Status	Approved
Aliases	SUT2
Ensembl gene	ENSG00000147606
Ensembl biotype	protein_coding
OMIM	608479
Entrez	115111

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 12 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000276609, ENST00000309536, ENST00000517930, ENST00000520249, ENST00000520818, ENST00000522181, ENST00000522862, ENST00000523719, ENST00000617078, ENST00000617233, ENST00000906535, ENST00000906536, ENST00000906537, ENST00000906538, ENST00000953486

RefSeq mRNA: 4 — MANE Select: NM_052832 NM_001282356, NM_001282357, NM_052832, NM_134266

CCDS: CCDS6254, CCDS6255, CCDS75765

Canonical transcript exons

ENST00000276609 — 19 exons

Exon	Start	End
ENSE00000980846	91318216	91318380
ENSE00000980847	91334295	91334447
ENSE00001024587	91338150	91338232
ENSE00001132098	91395062	91398155
ENSE00001132377	91249539	91249844
ENSE00001168806	91295531	91295703
ENSE00001168817	91289136	91289246
ENSE00001168826	91249319	91249413
ENSE00003502811	91351810	91351887
ENSE00003516800	91393936	91394039
ENSE00003529147	91366580	91366717
ENSE00003576472	91352901	91352996
ENSE00003584482	91369785	91369833
ENSE00003586528	91340404	91340551
ENSE00003624362	91343353	91343466
ENSE00003637954	91393797	91393851
ENSE00003685311	91363472	91363538
ENSE00003686143	91362353	91362459
ENSE00003693973	91389338	91389438

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 98.89.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.5729 / max 1316.4689, expressed in 86 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
89736	2.5372	84
89735	0.0233	5
89737	0.0124	4

Top tissues by expression

251 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
thyroid gland	UBERON:0002046	98.89	gold quality
right lobe of thyroid gland	UBERON:0001119	98.83	gold quality
left lobe of thyroid gland	UBERON:0001120	98.71	gold quality
pigmented layer of retina	UBERON:0001782	94.27	gold quality
retina	UBERON:0000966	94.25	gold quality
kidney epithelium	UBERON:0004819	93.62	gold quality
renal medulla	UBERON:0000362	93.27	gold quality
kidney	UBERON:0002113	87.51	gold quality
adult mammalian kidney	UBERON:0000082	86.88	gold quality
metanephros cortex	UBERON:0010533	86.82	gold quality
cortex of kidney	UBERON:0001225	84.86	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.74	silver quality
metanephros	UBERON:0000081	79.25	gold quality
endometrium	UBERON:0001295	77.05	gold quality
lymph node	UBERON:0000029	74.80	gold quality
placenta	UBERON:0001987	71.46	gold quality
ventricular zone	UBERON:0003053	70.18	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	69.34	gold quality
body of stomach	UBERON:0001161	68.18	gold quality
stomach	UBERON:0000945	67.80	gold quality
ganglionic eminence	UBERON:0004023	63.97	gold quality
embryo	UBERON:0000922	63.96	gold quality
uterus	UBERON:0000995	63.53	gold quality
hindlimb stylopod muscle	UBERON:0004252	63.08	gold quality
calcaneal tendon	UBERON:0003701	62.61	gold quality
gall bladder	UBERON:0002110	62.47	gold quality
right coronary artery	UBERON:0001625	60.52	gold quality
fundus of stomach	UBERON:0001160	60.32	gold quality
rectum	UBERON:0001052	58.90	gold quality
cardiac muscle of right atrium	UBERON:0003379	58.69	silver quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	8089.07
E-CURD-119	yes	6270.68
E-CURD-135	yes	2892.66
E-ANND-3	yes	5.84

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

177 targeting SLC26A7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3924	100.00	72.09	2394
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3065-5P	99.97	71.56	3281

Literature-anchored findings (GeneRIF, showing 8)

• the molecular cloning from human HEVEC of a 2.9-kb cDNA encoding SLC26A7, a novel member of the SLC26 (solute carrier 26) sulfate/anion exchanger family (PMID:11829495)
• In human kidney SLC26A6 and A7 have a distinct, partially overlapping expression in distal segments of nephrons. The distribution partly differs from that found previously in rodent kidneys. (PMID:15956810)
• The trafficking to the cell surface suggests novel functional upregulation of SLC26A7 in states that are associated with hypokalemia or increased medullary tonicity. (PMID:16524946)
• SLC26A7 mutations appear to be associated with thyroid dyshormonogenesis. (PMID:29546359)
• Study reports homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous congenital hypothyroidism and shows that goitrous hypothyroidism also occurs in Slc26a7-null mice. (PMID:30333321)
• SLC26A7 constitutes the thiocyanate-selective anion conductance of the basolateral membrane of the retinal pigment epithelium. (PMID:32726161)
• Relationships between SLC26A7 expressions and extra-thyroid metastasis of papillary thyroid carcinoma. (PMID:34593695)
• Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario. (PMID:34944008)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
mus_musculus	Slc26a7	ENSMUSG00000040569
rattus_norvegicus	Slc26a7	ENSRNOG00000006096
drosophila_melanogaster	Prestin	FBGN0036770
caenorhabditis_elegans		WBGENE00010788
caenorhabditis_elegans		WBGENE00010789
caenorhabditis_elegans		WBGENE00012259
caenorhabditis_elegans		WBGENE00013963
caenorhabditis_elegans		WBGENE00017464
caenorhabditis_elegans		WBGENE00018283
caenorhabditis_elegans	sulp-6	WBGENE00020914

Paralogs (9): SLC26A4 (ENSG00000091137), SLC26A3 (ENSG00000091138), SLC26A8 (ENSG00000112053), SLC26A1 (ENSG00000145217), SLC26A2 (ENSG00000155850), SLC26A5 (ENSG00000170615), SLC26A9 (ENSG00000174502), SLC26A11 (ENSG00000181045), SLC26A6 (ENSG00000225697)

Protein

Protein identifiers

Anion exchange transporter — Q8TE54 (reviewed: Q8TE54)

Alternative names: Solute carrier family 26 member 7

All UniProt accessions (5): Q8TE54, A0A087WZI7, E5RFH2, E5RGL8, H0YB61

UniProt curated annotations — full annotation on UniProt →

Function. Acts as an anion channel mediating the transport of chloride, sulfate and oxalate ions. Mediates the transport of bromide, iodide, nitrate, gluconate, thiocyanate and bicarbonate ions. Its permeability towards bicarbonate is weak and increases when pH is above 7. Mediates thiocyanate transport in retinal pigment epithelium cells. Mediates iodide transport in the thyroid gland, playing an important role in the synthesis of thyroid hormones and the maintenance of thyroid function. Although it is an anion channel, according to PubMed:12736153 and PubMed:32119864 it has been shown to exhibit chloride-bicarbonate exchanger activity.

Subcellular location. Cell membrane. Basolateral cell membrane. Recycling endosome membrane. Apical cell membrane. Lateral cell membrane.

Tissue specificity. Expressed in the thyroid gland (at protein level). Expressed in tonsillar high endothelial venule endothelial cells (HEVEC), placenta and in testis, expressed in a subgroup of basal cells in the epididymal ducts.

Disease relevance. Disease-causing variants in SLC26A7 have been found in patients with thyroid dyshormonogenesis and congenital goitrous hypothyroidism.

Activity regulation. Is active at both alkaline and acidic pH. Activity is inhibited by 4,4’-Di-isothiocyanatostilbene-2,2’-disulfonic acid (DIDS - an inhibitor of several anion channels and transporters).

Induction. Up-regulated by hyperosmolarity and down-regulated by acidic pH.

Similarity. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8TE54-1	1, 1A, 1B	yes
Q8TE54-2	2, B

RefSeq proteins (4): NP_001269285, NP_001269286, NP_439897, NP_599028 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001902	SLC26A/SulP_fam	Family
IPR002645	STAS_dom	Domain
IPR011547	SLC26A/SulP_dom	Domain
IPR036513	STAS_dom_sf	Homologous_superfamily

Pfam: PF00916, PF01740

Catalyzed reactions (Rhea), 10 shown:

• hydrogencarbonate(in) = hydrogencarbonate(out) (RHEA:28695)
• chloride(in) = chloride(out) (RHEA:29823)
• nitrate(in) = nitrate(out) (RHEA:34923)
• sulfate(in) = sulfate(out) (RHEA:34983)
• iodide(out) = iodide(in) (RHEA:66324)
• hydrogencarbonate(in) + chloride(out) = hydrogencarbonate(out) + chloride(in) (RHEA:72363)
• thiocyanate(in) = thiocyanate(out) (RHEA:75347)
• bromide(in) = bromide(out) (RHEA:75383)
• D-gluconate(in) = D-gluconate(out) (RHEA:76139)
• oxalate(in) = oxalate(out) (RHEA:76199)

UniProt features (32 total): topological domain 11, transmembrane region 11, sequence variant 4, sequence conflict 2, chain 1, domain 1, region of interest 1, splice variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9IKV	ELECTRON MICROSCOPY	3.1
9IKX	ELECTRON MICROSCOPY	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8TE54-F1	80.77	0.43

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-427601	Inorganic anion exchange by SLC26 transporters
R-HSA-382551	Transport of small molecules
R-HSA-425393
R-HSA-425407	SLC-mediated transmembrane transport

MSigDB gene sets: 191 (showing top): RNGTGGGC_UNKNOWN, GOBP_PHENOL_CONTAINING_COMPOUND_METABOLIC_PROCESS, GOBP_DIGESTION, GOBP_ACID_SECRETION, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_INORGANIC_ANION_TRANSPORT, GOBP_THYROID_HORMONE_METABOLIC_PROCESS, RACCACAR_AML_Q6, FOXO4_01, FOXO1_01, CHX10_01, GOBP_ORGANIC_ACID_TRANSPORT, NKX61_01, GOBP_CHLORIDE_TRANSPORT, MARTINEZ_RB1_TARGETS_DN

GO Biological Process (14): gastric acid secretion (GO:0001696), thyroid hormone generation (GO:0006590), monoatomic ion transport (GO:0006811), chloride transport (GO:0006821), bicarbonate transport (GO:0015701), iodide transport (GO:0015705), nitrate transmembrane transport (GO:0015706), oxalate transport (GO:0019532), gluconate transmembrane transport (GO:0035429), sulfate transmembrane transport (GO:1902358), chloride transmembrane transport (GO:1902476), monoatomic anion transport (GO:0006820), transmembrane transport (GO:0055085), carboxylic acid transmembrane transport (GO:1905039)

GO Molecular Function (7): chloride channel activity (GO:0005254), bicarbonate transmembrane transporter activity (GO:0015106), sulfate transmembrane transporter activity (GO:0015116), oxalate transmembrane transporter activity (GO:0019531), chloride:bicarbonate antiporter activity (GO:0140900), monoatomic anion channel activity (GO:0005253), antiporter activity (GO:0015297)

GO Cellular Component (8): cytoplasm (GO:0005737), endosome (GO:0005768), plasma membrane (GO:0005886), basolateral plasma membrane (GO:0016323), apical plasma membrane (GO:0016324), lateral plasma membrane (GO:0016328), recycling endosome membrane (GO:0055038), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
SLC-mediated transport of inorganic anions	1
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	3
inorganic anion transport	3
transmembrane transport	3
cellular anatomical structure	3
monoatomic anion transport	2
chloride transmembrane transporter activity	2
plasma membrane region	2
digestive system process	1
acid secretion	1
thyroid hormone metabolic process	1
nitrate import	1
dicarboxylic acid transport	1
carbohydrate transmembrane transport	1
aldonate transmembrane transport	1
sulfur compound transport	1
chloride transport	1
monoatomic anion transmembrane transport	1
monoatomic ion transport	1
cellular process	1
carboxylic acid transport	1
monoatomic anion channel activity	1
bicarbonate transport	1
transmembrane transporter activity	1
sulfur compound transmembrane transporter activity	1
sulfate transmembrane transport	1
dicarboxylic acid transmembrane transporter activity	1
oxalate transport	1
solute:inorganic anion antiporter activity	1
bicarbonate:monoatomic anion antiporter activity	1
monoatomic ion channel activity	1
monoatomic anion transmembrane transporter activity	1
secondary active transmembrane transporter activity	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1
membrane	1
cell periphery	1
basal plasma membrane	1
apical part of cell	1
plasma membrane	1

Protein interactions and networks

STRING

1342 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC26A7	IYD	Q6PHW0	659
SLC26A7	SLC4A8	Q2Y0W8	614
SLC26A7	SLC4A2	P04920	602
SLC26A7	SLC4A1	P02730	592
SLC26A7	SLC5A5	Q92911	572
SLC26A7	SLC4A9	Q96Q91	570
SLC26A7	DUOXA2	Q1HG44	559
SLC26A7	SLC4A4	Q9Y6R1	543
SLC26A7	SLC4A3	P48751	476
SLC26A7	SLC4A5	Q9BY07	463
SLC26A7	TSHR	P16473	457
SLC26A7	OR5B12	Q96R08	432
SLC26A7	DUOXA1	Q1HG43	421
SLC26A7	SLC13A1	Q9BZW2	409
SLC26A7	SLC4A10	Q6U841	407

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SLC26A7	TIMM17B	psi-mi:“MI:0914”(association)	0.350

BioGRID (13): SLC26A7 (Positive Genetic), SLC26A7 (Cross-Linking-MS (XL-MS)), SLC26A7 (Cross-Linking-MS (XL-MS)), AMFR (Affinity Capture-MS), ATP1B3 (Affinity Capture-MS), BRD2 (Affinity Capture-MS), ELAC2 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), HERC2 (Affinity Capture-MS), NPTN (Affinity Capture-MS), ORMDL1 (Affinity Capture-MS), TIMM17B (Affinity Capture-MS), TMEM43 (Affinity Capture-MS)

ESM2 similar proteins: A4IIF2, A8J6J0, B0JZG0, D7PC76, E9Q3M5, G3X939, G5EBK1, O04722, O13134, O88343, P02730, P04919, P23562, P26433, P32847, P58743, P92946, Q02920, Q11180, Q21751, Q22682, Q28362, Q2Y0W8, Q32LP4, Q4R445, Q4U116, Q5DTL9, Q5RAL2, Q6RI88, Q6RVG2, Q6U841, Q7LBE3, Q80ZA5, Q8BU91, Q8JZR6, Q8R2Z3, Q8T5S1, Q8TE54, Q94225, Q99NH7

Diamond homologs: A0FKN5, A4IIF2, A8J6J0, D7PC76, O43511, O70531, P40879, P45380, P50443, P53391, P53392, P58735, P58743, Q5EBI0, Q5RAL2, Q62273, Q65AC2, Q69DJ1, Q7LBE3, Q7T2C4, Q8BU91, Q8CIW6, Q8GYH8, Q8HY59, Q8NG04, Q8R2Z3, Q8TE54, Q924C9, Q99NH7, Q9BEG8, Q9BXS9, Q9EPH0, Q9FY46, Q9GJY3, Q9H2B4, Q9JKQ2, Q9R154, Q9R155, Q9SAY1, Q9WVC8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

123 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	3
Uncertain significance	96
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
2164580	NM_052832.4(SLC26A7):c.1554dup (p.Phe519fs)	Pathogenic
2138395	NM_052832.4(SLC26A7):c.1026+1G>A	Likely pathogenic
3778828	NM_052832.4(SLC26A7):c.974C>A (p.Ala325Asp)	Likely pathogenic
828176	NM_052832.4(SLC26A7):c.1498C>T (p.Gln500Ter)	Likely pathogenic

SpliceAI

4658 predictions. Top by Δscore:

Variant	Effect	Δscore
8:91249618:GAGAA:G	acceptor_gain	1.0000
8:91318210:TCTTA:T	acceptor_loss	1.0000
8:91318211:CTTAG:C	acceptor_loss	1.0000
8:91318212:TTA:T	acceptor_loss	1.0000
8:91318213:TAGGT:T	acceptor_loss	1.0000
8:91318214:A:AG	acceptor_gain	1.0000
8:91318214:AGGT:A	acceptor_gain	1.0000
8:91318215:G:GA	acceptor_loss	1.0000
8:91318215:G:GG	acceptor_gain	1.0000
8:91318215:GGT:G	acceptor_gain	1.0000
8:91318215:GGTG:G	acceptor_gain	1.0000
8:91318376:TTTAT:T	donor_gain	1.0000
8:91318377:TTAT:T	donor_gain	1.0000
8:91318378:TAT:T	donor_gain	1.0000
8:91318380:TGT:T	donor_loss	1.0000
8:91318381:G:GA	donor_loss	1.0000
8:91318381:G:GG	donor_gain	1.0000
8:91318382:TGA:T	donor_loss	1.0000
8:91318383:GAGT:G	donor_loss	1.0000
8:91338134:A:AG	acceptor_gain	1.0000
8:91338134:AAAT:A	acceptor_gain	1.0000
8:91338135:A:G	acceptor_gain	1.0000
8:91352899:A:AG	acceptor_gain	1.0000
8:91352900:G:GG	acceptor_gain	1.0000
8:91352900:GTGT:G	acceptor_gain	1.0000
8:91363471:GA:G	acceptor_gain	1.0000
8:91363471:GAGCA:G	acceptor_gain	1.0000
8:91363537:GT:G	donor_gain	1.0000
8:91363539:G:GG	donor_gain	1.0000
8:91363544:T:G	donor_gain	1.0000

AlphaMissense

4321 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:91352913:A:C	S411R	0.994
8:91352915:C:A	S411R	0.994
8:91352915:C:G	S411R	0.994
8:91289144:T:C	F68L	0.993
8:91289146:T:A	F68L	0.993
8:91289146:T:G	F68L	0.993
8:91318297:G:C	A187P	0.993
8:91318291:G:T	G185W	0.992
8:91318292:G:A	G185E	0.992
8:91318298:C:A	A187D	0.992
8:91318280:C:A	A181E	0.991
8:91334361:A:C	S237R	0.991
8:91334363:C:A	S237R	0.991
8:91334363:C:G	S237R	0.991
8:91289148:C:A	A69D	0.988
8:91289178:G:A	G79D	0.988
8:91249812:G:A	G54E	0.986
8:91249844:G:A	G65R	0.986
8:91249844:G:C	G65R	0.986
8:91343369:G:A	G348D	0.986
8:91362359:T:A	W441R	0.986
8:91362359:T:C	W441R	0.986
8:91295693:G:A	G156D	0.985
8:91318291:G:A	G185R	0.984
8:91318291:G:C	G185R	0.984
8:91352932:T:C	L417P	0.984
8:91295540:C:A	A105D	0.983
8:91289147:G:C	A69P	0.982
8:91289177:G:C	G79R	0.982
8:91295692:G:C	G156R	0.982

dbSNP variants (sampled 300 via entrez): RS1000042955 (8:91313382 C>T), RS1000074172 (8:91313022 T>C), RS1000096778 (8:91214661 T>C), RS1000101050 (8:91322995 T>G), RS1000105490 (8:91356943 A>G), RS1000144351 (8:91222858 T>C,G), RS1000165082 (8:91252790 T>C), RS1000173935 (8:91363820 C>G), RS1000196011 (8:91339682 G>C), RS1000205881 (8:91278994 A>G), RS1000222013 (8:91319207 C>A,G), RS1000231313 (8:91241814 A>G), RS1000232508 (8:91382512 A>C,T), RS1000233689 (8:91257064 C>T), RS1000248620 (8:91331480 A>G)

Disease associations

OMIM: gene MIM:608479 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital hypothyroidism	Strong	Autosomal recessive

Mondo (1): congenital hypothyroidism (MONDO:0018612)

Orphanet (1): Congenital hypothyroidism (Orphanet:442)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001343_11	Fat distribution (HIV)	2.000000e-06
GCST001343_16	Fat distribution (HIV)	8.000000e-06
GCST001343_17	Fat distribution (HIV)	1.000000e-06
GCST003542_6	Night sleep phenotypes	7.000000e-07
GCST003542_7	Night sleep phenotypes	1.000000e-06
GCST007269_278	Pulse pressure	3.000000e-13
GCST011703_89	Smoking initiation	3.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution
EFO:0005763	pulse pressure measurement
EFO:0005670	smoking initiation

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D003409	Congenital Hypothyroidism	C05.116.099.343.347; C05.116.132.256; C16.320.240.625; C19.297.155; C19.874.482.281

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — Anion channels

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	decreases expression	2
Nickel	decreases expression	2
Aflatoxin B1	decreases methylation, increases expression	2
bisphenol A	increases expression	1
cinnamaldehyde	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
perfluorooctanoic acid	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
perfluorohexanesulfonic acid	increases expression	1
(+)-JQ1 compound	increases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	affects expression	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1
Asbestos, Serpentine	decreases methylation	1
Antirheumatic Agents	increases expression	1
Okadaic Acid	increases expression	1
Genistein	decreases expression	1

Clinical trials (associated diseases)

24 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT05228184	PHASE4	TERMINATED	Use of Tirosint®-SOL or Tablet Formulations of Levothyroxine in Pediatric Patients With Congenital Hypothyroidism (CH)
NCT05371262	PHASE4	COMPLETED	Influence of Initial Levothyroxine Dose on Neurodevelopmental and Growth Outcomes in Congenital Hypothyroidism
NCT00403390	Not specified	COMPLETED	Generic vs. Name-Brand Levothyroxine
NCT00493103	Not specified	COMPLETED	TG Gene Mutations and Congenital Hypothyroidism
NCT00497575	Not specified	COMPLETED	Diagnosis and Follow-up of Patients With Subclinical Hypothyroidism
NCT00505479	Not specified	UNKNOWN	Iodine Status in Pregnant Women and Their Newborns: is Congenital Hypothyroidism Related to Iodine Deficiency in Pregnancy?
NCT01223638	Not specified	WITHDRAWN	The Prevalence of Hearing Loss Among Children With Congenital Hypothyroidism
NCT01349634	Not specified	COMPLETED	The Effects of Iodized Salt on Cognitive Development in Ethiopia
NCT01488721	Not specified	COMPLETED	Clinical Evaluation of NeoPlex4 Assay and NeoPlex System
NCT01916018	Not specified	COMPLETED	Clinical and Genetic Analysis in Congenital Hypothyroidism Due to Thyroid Dysgenesis.
NCT02307175	Not specified	COMPLETED	A Study of 99m Tc Pertechnetate Produced in High Energy Cyclotron in Patients With Thyroid Scan Indication
NCT02374593	Not specified	COMPLETED	Targeted Levothyroxine Dosing in Infants With Congenital Hypothyroidism
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT04712760	Not specified	UNKNOWN	Congenital Hypothyroidism in Children With Eutopic Gland or Thyroid Hemiagenesis: Predictive Factors for Transient vs Permanent Hypothyroidism.
NCT04734457	Not specified	UNKNOWN	Final Height in Patients With CH Diagnosed by the Screening
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06724224	Not specified	RECRUITING	Comparison of Levothyroxine Formulations in the Treatment of Congenital Hypothyroidism
NCT06728735	Not specified	RECRUITING	Role of Next Generation Sequencing in the Etiological Diagnosis of Permanent Congenital Hypothyroidism With in Situ Thyroid
NCT06864039	Not specified	ENROLLING_BY_INVITATION	Quality of Life and Long-term Outcome of Adequately Treated Congenital Hypothyroidism
NCT06864351	Not specified	RECRUITING	Prospective Evaluation of OptiThyDose
NCT07126353	Not specified	NOT_YET_RECRUITING	Metabolic Risk Assessment in Prepubertal Children With Congenital Hypothyroidism
NCT07280104	Not specified	RECRUITING	Infants With Primary Congenital Hypothyroidism and Development
NCT07425028	Not specified	NOT_YET_RECRUITING	Evaluation of an Intensified Systematic Screening for Congenital Hypothyroidism in Premature Newborns
NCT07579988	Not specified	NOT_YET_RECRUITING	Ultrasound Measurement of Thyroid Volume in Term Newborns