SULT6B1

protein-coding

sulfotransferase family 6B member 1, the group of Sulfotransferases, cytosolic

Gene summary

Predicted to enable sulfotransferase activity. Predicted to be involved in sulfation. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001367551.1

Inheritance

—

ClinVar variants

U:47B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.7

Max pathogenic AF

—

Genomic locus

chr2:37,167,820-37,196,598

External References & Databases

Ensembl (ENSG00000138068)

Transcript & Mutation Effects

hg38 • Region Span ~28.8 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SULT6B1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 49

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001367551.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			47 clinvar	3 clinvar		50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	47	3	0	50

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001367551.1	RefSeq	NP_001354480.1	7	MANE Select
ENST00000535679.6	Ensembl	ENSP00000444081.1	7	MANE Select
NM_001032377.2	RefSeq	NP_001027549.1	7	Standard
ENST00000407963.2	Ensembl	ENSP00000384950.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Sulfation Biotransformation Reaction
Metapathway biotransformation Phase I and II
Phase II - Conjugation of compounds
Biological oxidations
Metabolism

Biological Process

3'-phosphoadenosine 5'-phosphosulfate metabolic process

Molecular Function

aryl sulfotransferase activity

Cellular Component

cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000260637
Coding exons: 7
Length: 28779
Individuals with no LoFs: 125664
Homozygous LoFs: 1
Heterozygous LoFs: 82
Defined: 125747
p: 0.000330

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.710	165	141	1.17	0.00000726	1752
Missense (PolyPhen)		44	42.9	1.0256		574
Synonymous	0.533	48	52.9	0.907	0.00000312	455
Loss of Function	-2.43	24	14.1	1.70	6.64e-7	176

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00081	0.00080	rare
Latino/Admixed American	0.00019	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0015	0.0015	notable
Finnish	0.000094	0.000092	rare
European (Non-Finnish)	0.00022	0.00022	rare
South Asian	0.00035	0.00029	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of thyroxine. Involved in the metabolism of thyroxine (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0884

Intolerance Scores

LoFtool: 0.548
RVIS EVS: 2.02
RVIS percentile EVS: 97.68

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0183

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium