SULF2

sulfatase 2, the group of Sulfatases

Basic information

Region (hg38): 20:47656197-47786616

Links

ENSG00000196562

∙ NCBI:55959 ∙ OMIM:610013 ∙ HGNC:20392 ∙ Uniprot:Q8IWU5 ∙ 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 SULF2 gene.

not_specified (120 variants)
not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SULF2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001387048.1. 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				5 clinvar	2 clinvar	7
missense			113 clinvar	6 clinvar	1 clinvar	120
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	113	11	3

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SULF2	protein_coding	protein_coding	ENST00000359930	20	130269

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0106	0.989	125724	0	24	125748	0.0000954

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.72	442	556	0.795	0.0000368	5733
Missense in Polyphen		169	255.19	0.66225		2624
Synonymous	0.255	225	230	0.979	0.0000166	1593
Loss of Function	4.57	13	46.7	0.278	0.00000240	533

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000216	0.000210
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000333	0.000326
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.0000443	0.0000439
Middle Eastern	0.000333	0.000326
South Asian	0.000205	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Exhibits arylsulfatase activity and highly specific endoglucosamine-6-sulfatase activity. It can remove sulfate from the C-6 position of glucosamine within specific subregions of intact heparin.;

Intolerance Scores

loftool: 0.0167
rvis_EVS: -1.59
rvis_percentile_EVS: 3.08

Haploinsufficiency Scores

pHI: 0.147
hipred: Y
hipred_score: 0.639
ghis: 0.510

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.665

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Sulf2
Phenotype: muscle phenotype; craniofacial phenotype; cellular phenotype; growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; digestive/alimentary phenotype; vision/eye phenotype; renal/urinary system phenotype; skeleton phenotype; embryo phenotype; respiratory system phenotype; reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process: kidney development;chondrocyte development;glomerular filtration;response to wounding;positive regulation of vascular endothelial growth factor production;esophagus smooth muscle contraction;positive regulation of Wnt signaling pathway;heparan sulfate proteoglycan metabolic process;glomerular basement membrane development;glial cell-derived neurotrophic factor receptor signaling pathway;negative regulation of fibroblast growth factor receptor signaling pathway;embryonic skeletal system development;cartilage development;bone development;innervation;positive regulation of canonical Wnt signaling pathway;liver regeneration;regulation of hepatocyte proliferation
Cellular component: extracellular space;endoplasmic reticulum;Golgi stack;plasma membrane;cell surface
Molecular function: arylsulfatase activity;calcium ion binding;glycosaminoglycan binding;N-acetylglucosamine-6-sulfatase activity