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.

not_specified (57 variants)
not_provided (1 variants)

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. These statistics are base on transcript: NM_000001054.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			53 clinvar	4 clinvar		57
nonsense					1 clinvar	1
start loss						0
frameshift					1 clinvar	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	4	2

Loading clinvar variants...

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