SULT1A2

sulfotransferase family 1A member 2, the group of Sulfotransferases, cytosolic

Basic information

Region (hg38): 16:28591943-28597050

Previous symbols: [ "STP2" ]

Links

ENSG00000197165 ∙ NCBI:6799 ∙ OMIM:601292 ∙ HGNC:11454 ∙ Uniprot:P50226 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SULT1A2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SULT1A2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			29	2		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	2	0

Variants in SULT1A2

This is a list of pathogenic ClinVar variants found in the SULT1A2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
16-28592042-G-A		not specified	Uncertain significance (Feb 21, 2024)
16-28592074-G-A		not specified	Uncertain significance (May 03, 2023)
16-28592093-G-A		not specified	Uncertain significance (Jun 28, 2023)
16-28592101-T-C		not specified	Uncertain significance (Dec 06, 2022)
16-28592108-C-T		not specified	Uncertain significance (Oct 14, 2023)
16-28592300-C-G		not specified	Uncertain significance (Mar 28, 2022)
16-28592304-C-T		not specified	Likely benign (Aug 30, 2022)
16-28592307-C-G		not specified	Likely benign (Jun 10, 2024)
16-28592307-C-T		not specified	Uncertain significance (Nov 21, 2022)
16-28592401-G-A		not specified	Uncertain significance (May 26, 2022)
16-28592403-C-T		not specified	Uncertain significance (Sep 03, 2024)
16-28592404-C-T		not specified	Uncertain significance (Jan 16, 2024)
16-28592422-T-C		not specified	Uncertain significance (Dec 27, 2023)
16-28593253-T-A		not specified	Uncertain significance (Aug 13, 2021)
16-28593254-C-T		not specified	Uncertain significance (Dec 15, 2023)
16-28593281-G-C		not specified	Uncertain significance (Jun 10, 2024)
16-28593281-G-T		not specified	Uncertain significance (Mar 07, 2024)
16-28593320-C-T		not specified	Uncertain significance (Dec 14, 2023)
16-28593337-C-G		not specified	Uncertain significance (Feb 15, 2023)
16-28593343-G-A		not specified	Uncertain significance (Mar 06, 2023)
16-28593344-A-G		not specified	Uncertain significance (May 26, 2023)
16-28593454-T-C		not specified	Uncertain significance (Dec 21, 2023)
16-28593492-G-C		not specified	Uncertain significance (May 10, 2022)
16-28593496-A-G		not specified	Likely benign (Oct 20, 2021)
16-28593498-A-G		not specified	Uncertain significance (Sep 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SULT1A2	protein_coding	protein_coding	ENST00000395630	7	5167

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.68e-12	0.0248	125005	9	734	125748	0.00296

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.846	211	179	1.18	0.0000108	1932
Missense in Polyphen		71	57.033	1.2449		720
Synonymous	-0.389	74	69.9	1.06	0.00000430	551
Loss of Function	-0.231	17	16.0	1.06	8.71e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0239	0.0238
Ashkenazi Jewish	0.00	0.00
East Asian	0.0149	0.0148
Finnish	0.00	0.00
European (Non-Finnish)	0.000325	0.000325
Middle Eastern	0.0149	0.0148
South Asian	0.00102	0.00101
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of catecholamines, phenolic drugs and neurotransmitters. Is also responsible for the sulfonation and activation of minoxidil. Mediates the metabolic activation of carcinogenic N-hydroxyarylamines to DNA binding products and could so participate as modulating factor of cancer risk.
• Pathway: Chemical carcinogenesis - Homo sapiens (human);Sulfation Biotransformation Reaction;Arylamine metabolism;Metapathway biotransformation Phase I and II;Phase II - Conjugation of compounds;Biological oxidations;Metabolism;Cytosolic sulfonation of small molecules;thyroid hormone metabolism II (via conjugation and/or degradation);serotonin degradation;superpathway of tryptophan utilization;melatonin degradation I;superpathway of melatonin degradation (Consensus)

Recessive Scores

• pRec: 0.262

Intolerance Scores

• loftool: 0.248
• rvis_EVS: 0.82
• rvis_percentile_EVS: 87.99

Haploinsufficiency Scores

• pHI: 0.117
• hipred: N
• hipred_score: 0.112
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.954

Gene Damage Prediction

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

Gene ontology

• Biological process: ethanol catabolic process;catecholamine metabolic process;xenobiotic metabolic process;steroid metabolic process;amine biosynthetic process;phenol-containing compound metabolic process;3'-phosphoadenosine 5'-phosphosulfate metabolic process;sulfation
• Cellular component: cytosol
• Molecular function: aryl sulfotransferase activity;protein binding;sulfotransferase activity;flavonol 3-sulfotransferase activity