Human Gene SUMF2 (ENST00000434526.8_7) from GENCODE V47lift37

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Description: sulfatase modifying factor 2, transcript variant 2 (from RefSeq NM_015411.4)
Gencode Transcript: ENST00000434526.8_7
Gencode Gene: ENSG00000129103.19_13
Transcript (Including UTRs)
Position: hg19 chr7:56,131,979-56,148,363 Size: 16,385 Total Exon Count: 9 Strand: +
Coding Region
Position: hg19 chr7:56,132,005-56,147,305 Size: 15,301 Coding Exon Count: 9

Page Index	Sequence and Links	UniProtKB Comments	Primers	MalaCards	CTD
Gene Alleles	RNA-Seq Expression	RNA Structure	Protein Structure	Other Species	GO Annotations
mRNA Descriptions	Pathways	Other Names	Model Information	Methods

Data last updated at UCSC: 2024-08-22 23:36:26

Sequence and Links to Tools and Databases

Genomic Sequence (chr7:56,131,979-56,148,363)			mRNA (may differ from genome)		Protein (301 aa)
Gene Sorter	Genome Browser	Other Species FASTA	VisiGene	Gene interactions	Table Schema
AlphaFold	BioGPS	Ensembl	Entrez Gene	ExonPrimer	GeneCards
HGNC	Malacards	MGI	OMIM	PubMed	Reactome
UniProtKB	Wikipedia	BioGrid CRISPR DB

Comments and Description Text from UniProtKB


	ID: SUMF2_HUMAN DESCRIPTION: RecName: Full=Sulfatase-modifying factor 2; AltName: Full=C-alpha-formylglycine-generating enzyme 2; Flags: Precursor; FUNCTION: Lacks formyl-glycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1. SUBUNIT: Homodimer and heterodimer with SUMF1. SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. TISSUE SPECIFICITY: Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Highest levels in kidney, liver and placenta. SIMILARITY: Belongs to the sulfatase-modifying factor family. SEQUENCE CAUTION: Sequence=AAH00224.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAB43247.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=CAB43247.1; Type=Frameshift; Positions=150, 187;

Primer design for this transcript

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3

MalaCards Disease Associations


	MalaCards Gene Search: SUMF2 Diseases sorted by gene-association score: multiple sulfatase deficiency (2), listeriosis (2), primary bacterial infectious disease (2), balanoposthitis (2), holoprosencephaly 1 (1)

Comparative Toxicogenomics Database (CTD)


	The following chemicals interact with this gene C006780 bisphenol A C017906 3-dinitrobenzene D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide D001564 Benzo(a)pyrene D019256 Cadmium Chloride D037742 Nanotubes, Carbon D012999 Soman D013749 Tetrachlorodibenzodioxin C117342 calfactant C006253 pirinixic acid

Common Gene Haplotype Alleles


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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)


	Highest median expression: 51.59 RPKM in Cervix - Endocervix Total median expression: 1656.89 RPKM View in GTEx track of Genome Browser View at GTEx portal View GTEx Body Map

mRNA Secondary Structure of 3' and 5' UTRs

Region	Fold Energy	Bases	Energy/Base	Display As
5' UTR	-6.90	26	-0.265	Picture	PostScript	Text
3' UTR	-345.20	1058	-0.326	Picture	PostScript	Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

Protein Domain and Structure Information

InterPro Domains: Graphical view of domain structure
IPR016187 - C-type_lectin_fold
IPR005532 - FGE_dom

Pfam Domains:
PF03781 - Sulfatase-modifying factor enzyme 1

SCOP Domains:
56436 - C-type lectin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1Y4J - X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q8NBJ7


Front	Top	Side

The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

Orthologous Genes in Other Species

Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.

Mouse	Rat	Zebrafish	D. melanogaster	C. elegans	S. cerevisiae
No ortholog	No ortholog	No ortholog	No ortholog	No ortholog	No ortholog
Gene Details	Gene Details
Gene Sorter	Gene Sorter
	RGD

Gene Ontology (GO) Annotations with Structured Vocabulary


	Molecular Function: GO:0046872 metal ion binding Biological Process: GO:0043687 post-translational protein modification Cellular Component: GO:0005783 endoplasmic reticulum GO:0005788 endoplasmic reticulum lumen

Descriptions from all associated GenBank mRNAs


	AK300488 - Homo sapiens cDNA FLJ59985 complete cds, highly similar to Sulfatase-modifying factor 2 precursor. AK075477 - Homo sapiens cDNA PSEC0171 fis, clone PLACE1011514, highly similar to Sulfatase modifying factor 2 precursor. BC111092 - Homo sapiens sulfatase modifying factor 2, mRNA (cDNA clone MGC:133350 IMAGE:40068651), complete cds. BC065222 - Homo sapiens sulfatase modifying factor 2, mRNA (cDNA clone IMAGE:5750406). CR936757 - Homo sapiens mRNA; cDNA DKFZp781L1035 (from clone DKFZp781L1035). AK298605 - Homo sapiens cDNA FLJ59949 complete cds, highly similar to Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 4, mRNA. CR936749 - Homo sapiens mRNA; cDNA DKFZp686L17160 (from clone DKFZp686L17160). AY359103 - Homo sapiens clone DNA93020 ARHG1968 (UNQ1968) mRNA, complete cds. BC084539 - Homo sapiens sulfatase modifying factor 2, mRNA (cDNA clone MGC:99485 IMAGE:6599080), complete cds. GQ901035 - Homo sapiens clone HEL-T-147 epididymis secretory sperm binding protein mRNA, complete cds. AK297042 - Homo sapiens cDNA FLJ54722 complete cds, highly similar to Sulfatase-modifying factor 2 precursor. AK301627 - Homo sapiens cDNA FLJ59089 complete cds, highly similar to Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 4, mRNA. AL050037 - Homo sapiens mRNA; cDNA DKFZp566I1024 (from clone DKFZp566I1024). AK297793 - Homo sapiens cDNA FLJ54105 complete cds, highly similar to Sulfatase-modifying factor 2 precursor. AY323911 - Homo sapiens sulfatase modifying factor 2 mRNA, complete cds. BC006159 - Homo sapiens sulfatase modifying factor 2, mRNA (cDNA clone IMAGE:3635549), partial cds. BC015600 - Homo sapiens sulfatase modifying factor 2, mRNA (cDNA clone IMAGE:4653574), partial cds. BC000224 - Homo sapiens sulfatase modifying factor 2, mRNA (cDNA clone IMAGE:3351504), partial cds. CU677357 - Synthetic construct Homo sapiens gateway clone IMAGE:100018103 5' read SUMF2 mRNA. KJ902381 - Synthetic construct Homo sapiens clone ccsbBroadEn_11775 SUMF2 gene, encodes complete protein. KU178582 - Homo sapiens sulfatase modifying factor 2 isoform 1 (SUMF2) mRNA, partial cds. KU178583 - Homo sapiens sulfatase modifying factor 2 isoform 2 (SUMF2) mRNA, complete cds. KU178584 - Homo sapiens sulfatase modifying factor 2 isoform 3 (SUMF2) mRNA, complete cds. KU178585 - Homo sapiens sulfatase modifying factor 2 isoform 4 (SUMF2) mRNA, complete cds. JD026301 - Sequence 7325 from Patent EP1572962. JD022978 - Sequence 4002 from Patent EP1572962. JD034139 - Sequence 15163 from Patent EP1572962. DL492085 - Novel nucleic acids. DL490629 - Novel nucleic acids. KJ902382 - Synthetic construct Homo sapiens clone ccsbBroadEn_11776 SUMF2 gene, encodes complete protein. JD459175 - Sequence 440199 from Patent EP1572962. JD339434 - Sequence 320458 from Patent EP1572962. JD357803 - Sequence 338827 from Patent EP1572962. JD459906 - Sequence 440930 from Patent EP1572962. JD042583 - Sequence 23607 from Patent EP1572962. JD203914 - Sequence 184938 from Patent EP1572962. JD183800 - Sequence 164824 from Patent EP1572962. JD039531 - Sequence 20555 from Patent EP1572962. JD302832 - Sequence 283856 from Patent EP1572962. JD438747 - Sequence 419771 from Patent EP1572962. JD104196 - Sequence 85220 from Patent EP1572962. AF075046 - Homo sapiens full length insert cDNA YN68C05. JD046678 - Sequence 27702 from Patent EP1572962. JD060867 - Sequence 41891 from Patent EP1572962. JD182689 - Sequence 163713 from Patent EP1572962. JD463014 - Sequence 444038 from Patent EP1572962. JD247417 - Sequence 228441 from Patent EP1572962. JD195468 - Sequence 176492 from Patent EP1572962. JD398663 - Sequence 379687 from Patent EP1572962. JD071907 - Sequence 52931 from Patent EP1572962. JD081057 - Sequence 62081 from Patent EP1572962. JD293540 - Sequence 274564 from Patent EP1572962. JD078104 - Sequence 59128 from Patent EP1572962. JD159432 - Sequence 140456 from Patent EP1572962. JD541443 - Sequence 522467 from Patent EP1572962. JD356642 - Sequence 337666 from Patent EP1572962. JD238885 - Sequence 219909 from Patent EP1572962. JD425673 - Sequence 406697 from Patent EP1572962. JD090122 - Sequence 71146 from Patent EP1572962. JD547288 - Sequence 528312 from Patent EP1572962. JD400032 - Sequence 381056 from Patent EP1572962.

Biochemical and Signaling Pathways


	Reactome (by CSHL, EBI, and GO) Protein Q8NBJ7 (Reactome details) participates in the following event(s): R-HSA-1614336 SUMF2 inhibits SUMF1-mediated activation of arylsulfatases R-HSA-1663150 The activation of arylsulfatases R-HSA-163841 Gamma carboxylation, hypusine formation and arylsulfatase activation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins

Other Names for This Gene


	Alternate Gene Symbols: B4DU41, B4DWQ0, ENST00000434526.1, ENST00000434526.2, ENST00000434526.3, ENST00000434526.4, ENST00000434526.5, ENST00000434526.6, ENST00000434526.7, NM_015411, PSEC0171 , Q14DW5, Q53ZE3, Q8NBJ7, Q96BH2, Q9BRN3, Q9BWI1, Q9Y405, SUMF2 , SUMF2_HUMAN, uc320dah.1, uc320dah.2, UNQ1968/PRO4500 UCSC ID: ENST00000434526.8_7 RefSeq Accession: NM_015411.4 Protein: Q8NBJ7 (aka SUMF2_HUMAN or SUM2_HUMAN)

Gene Model Information


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Methods, Credits, and Use Restrictions


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