Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9060
Gene name	3'-phosphoadenosine 5'-phosphosulfate synthase 2
Gene symbol	PAPSS2
Synonyms (NCBI Gene)	ATPSK2BCYM4SK2
Chromosome	10
Chromosome location	10q23.2-q23.31
Summary	Sulfation is a common modification of endogenous (lipids, proteins, and carbohydrates) and exogenous (xenobiotics and drugs) compounds. In mammals, the sulfate source is 3`-phosphoadenosine 5`-phosphosulfate (PAPS), created from ATP and inorganic sulfate.

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908950	C>A	Pathogenic	Stop gained, coding sequence variant
rs121908951	C>G	Pathogenic	Missense variant, coding sequence variant
rs121908952	C>T	Pathogenic	Stop gained, coding sequence variant
rs138943074	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs145242127	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs374379931	C>G	Likely-pathogenic	Coding sequence variant, stop gained
rs606231241	->G	Pathogenic	Coding sequence variant, frameshift variant
rs606231242	GTAGTGGAACTTCTGCAAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231243	->CGTA	Pathogenic	Coding sequence variant, frameshift variant
rs786200933	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs786200934	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs794727710	G>A,T	Pathogenic	Splice donor variant
rs797045099	ATTCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1471554906	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554869370	->C	Likely-pathogenic	Frameshift variant, coding sequence variant

295

Show/Hide all (295)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002636	hsa-miR-124-3p	Microarray	18668037
MIRT002636	hsa-miR-124-3p	Microarray	15685193
MIRT050720	hsa-miR-18a-5p	CLASH	23622248
MIRT619439	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT619438	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT619437	hsa-miR-1305	HITS-CLIP	23824327
MIRT619436	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT619439	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT619438	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT619437	hsa-miR-1305	HITS-CLIP	23824327
MIRT619436	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT522029	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT522037	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT522036	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT522034	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT522033	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT522032	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT522030	hsa-miR-3924	PAR-CLIP	20371350
MIRT522028	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT522037	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT522036	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT522035	hsa-miR-567	PAR-CLIP	23446348
MIRT522034	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT522033	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT522032	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT522030	hsa-miR-3924	PAR-CLIP	23446348
MIRT522031	hsa-miR-297	PAR-CLIP	23446348
MIRT522029	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT522028	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT449766	hsa-miR-3074-3p	PAR-CLIP	22100165
MIRT449765	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT619439	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT619438	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT619437	hsa-miR-1305	HITS-CLIP	23824327
MIRT619436	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT619439	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT619438	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT619437	hsa-miR-1305	HITS-CLIP	23824327
MIRT619436	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT522029	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT522037	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT522036	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT522034	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT522033	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT522032	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT522030	hsa-miR-3924	PAR-CLIP	20371350
MIRT522028	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT522037	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT522036	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT522035	hsa-miR-567	PAR-CLIP	23446348
MIRT522034	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT522033	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT522032	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT522030	hsa-miR-3924	PAR-CLIP	23446348
MIRT522031	hsa-miR-297	PAR-CLIP	23446348
MIRT522029	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT522028	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT449766	hsa-miR-3074-3p	PAR-CLIP	22100165
MIRT449765	hsa-miR-873-5p	PAR-CLIP	22100165
MIRT1213210	hsa-let-7a	CLIP-seq
MIRT1213211	hsa-let-7b	CLIP-seq
MIRT1213212	hsa-let-7c	CLIP-seq
MIRT1213213	hsa-let-7d	CLIP-seq
MIRT1213214	hsa-let-7e	CLIP-seq
MIRT1213215	hsa-let-7f	CLIP-seq
MIRT1213216	hsa-let-7g	CLIP-seq
MIRT1213217	hsa-let-7i	CLIP-seq
MIRT1213218	hsa-miR-1178	CLIP-seq
MIRT1213219	hsa-miR-1197	CLIP-seq
MIRT1213220	hsa-miR-1250	CLIP-seq
MIRT1213221	hsa-miR-137	CLIP-seq
MIRT1213222	hsa-miR-202	CLIP-seq
MIRT1213223	hsa-miR-25	CLIP-seq
MIRT1213224	hsa-miR-3120-3p	CLIP-seq
MIRT1213225	hsa-miR-3163	CLIP-seq
MIRT1213226	hsa-miR-32	CLIP-seq
MIRT1213227	hsa-miR-363	CLIP-seq
MIRT1213228	hsa-miR-367	CLIP-seq
MIRT1213229	hsa-miR-3675-3p	CLIP-seq
MIRT1213230	hsa-miR-3907	CLIP-seq
MIRT1213231	hsa-miR-4282	CLIP-seq
MIRT1213232	hsa-miR-4458	CLIP-seq
MIRT1213233	hsa-miR-4500	CLIP-seq
MIRT1213234	hsa-miR-4662a-3p	CLIP-seq
MIRT1213235	hsa-miR-577	CLIP-seq
MIRT1213236	hsa-miR-873	CLIP-seq
MIRT1213237	hsa-miR-92a	CLIP-seq
MIRT1213238	hsa-miR-92b	CLIP-seq
MIRT1213239	hsa-miR-98	CLIP-seq
MIRT1213210	hsa-let-7a	CLIP-seq
MIRT1213211	hsa-let-7b	CLIP-seq
MIRT1213212	hsa-let-7c	CLIP-seq
MIRT1213213	hsa-let-7d	CLIP-seq
MIRT1213214	hsa-let-7e	CLIP-seq
MIRT1213215	hsa-let-7f	CLIP-seq
MIRT1213216	hsa-let-7g	CLIP-seq
MIRT1213217	hsa-let-7i	CLIP-seq
MIRT1213219	hsa-miR-1197	CLIP-seq
MIRT1213240	hsa-miR-124	CLIP-seq
MIRT1213241	hsa-miR-125a-3p	CLIP-seq
MIRT1213242	hsa-miR-133a	CLIP-seq
MIRT1213243	hsa-miR-133b	CLIP-seq
MIRT1213244	hsa-miR-138	CLIP-seq
MIRT1213245	hsa-miR-142-5p	CLIP-seq
MIRT1213246	hsa-miR-145	CLIP-seq
MIRT1213247	hsa-miR-147	CLIP-seq
MIRT1213248	hsa-miR-199a-3p	CLIP-seq
MIRT1213249	hsa-miR-199b-3p	CLIP-seq
MIRT1213222	hsa-miR-202	CLIP-seq
MIRT1213250	hsa-miR-203	CLIP-seq
MIRT1213251	hsa-miR-224	CLIP-seq
MIRT1213252	hsa-miR-2278	CLIP-seq
MIRT1213253	hsa-miR-2682	CLIP-seq
MIRT1213224	hsa-miR-3120-3p	CLIP-seq
MIRT1213254	hsa-miR-3129-5p	CLIP-seq
MIRT1213255	hsa-miR-3133	CLIP-seq
MIRT1213256	hsa-miR-3149	CLIP-seq
MIRT1213257	hsa-miR-3152-5p	CLIP-seq
MIRT1213258	hsa-miR-3168	CLIP-seq
MIRT1213259	hsa-miR-3174	CLIP-seq
MIRT1213260	hsa-miR-3180-5p	CLIP-seq
MIRT1213261	hsa-miR-3187-3p	CLIP-seq
MIRT1213262	hsa-miR-3192	CLIP-seq
MIRT1213263	hsa-miR-3646	CLIP-seq
MIRT1213264	hsa-miR-3649	CLIP-seq
MIRT1213265	hsa-miR-371-3p	CLIP-seq
MIRT1213266	hsa-miR-3714	CLIP-seq
MIRT1213267	hsa-miR-371-5p	CLIP-seq
MIRT1213268	hsa-miR-371b-3p	CLIP-seq
MIRT1213269	hsa-miR-371b-5p	CLIP-seq
MIRT1213270	hsa-miR-376c	CLIP-seq
MIRT1213271	hsa-miR-3910	CLIP-seq
MIRT1213272	hsa-miR-3934	CLIP-seq
MIRT1213273	hsa-miR-4277	CLIP-seq
MIRT1213274	hsa-miR-4289	CLIP-seq
MIRT1213275	hsa-miR-4307	CLIP-seq
MIRT1213276	hsa-miR-4312	CLIP-seq
MIRT1213277	hsa-miR-4314	CLIP-seq
MIRT1213278	hsa-miR-4317	CLIP-seq
MIRT1213279	hsa-miR-4328	CLIP-seq
MIRT1213232	hsa-miR-4458	CLIP-seq
MIRT1213280	hsa-miR-4484	CLIP-seq
MIRT1213281	hsa-miR-449c	CLIP-seq
MIRT1213233	hsa-miR-4500	CLIP-seq
MIRT1213282	hsa-miR-4511	CLIP-seq
MIRT1213283	hsa-miR-4529-5p	CLIP-seq
MIRT1213284	hsa-miR-4646-5p	CLIP-seq
MIRT1213285	hsa-miR-4666-5p	CLIP-seq
MIRT1213286	hsa-miR-4719	CLIP-seq
MIRT1213287	hsa-miR-4728-3p	CLIP-seq
MIRT1213288	hsa-miR-4735-5p	CLIP-seq
MIRT1213289	hsa-miR-4763-5p	CLIP-seq
MIRT1213290	hsa-miR-4775	CLIP-seq
MIRT1213291	hsa-miR-4795-3p	CLIP-seq
MIRT1213292	hsa-miR-491-3p	CLIP-seq
MIRT1213293	hsa-miR-492	CLIP-seq
MIRT1213294	hsa-miR-500a	CLIP-seq
MIRT1213295	hsa-miR-506	CLIP-seq
MIRT1213296	hsa-miR-513c	CLIP-seq
MIRT1213297	hsa-miR-514b-5p	CLIP-seq
MIRT1213298	hsa-miR-515-3p	CLIP-seq
MIRT1213299	hsa-miR-519e	CLIP-seq
MIRT1213300	hsa-miR-548a-5p	CLIP-seq
MIRT1213301	hsa-miR-548ab	CLIP-seq
MIRT1213302	hsa-miR-548ac	CLIP-seq
MIRT1213303	hsa-miR-548ae	CLIP-seq
MIRT1213304	hsa-miR-548aj	CLIP-seq
MIRT1213305	hsa-miR-548ak	CLIP-seq
MIRT1213306	hsa-miR-548am	CLIP-seq
MIRT1213307	hsa-miR-548an	CLIP-seq
MIRT1213308	hsa-miR-548b-5p	CLIP-seq
MIRT1213309	hsa-miR-548c-5p	CLIP-seq
MIRT1213310	hsa-miR-548d-3p	CLIP-seq
MIRT1213311	hsa-miR-548d-5p	CLIP-seq
MIRT1213312	hsa-miR-548h	CLIP-seq
MIRT1213313	hsa-miR-548i	CLIP-seq
MIRT1213314	hsa-miR-548j	CLIP-seq
MIRT1213315	hsa-miR-548k	CLIP-seq
MIRT1213316	hsa-miR-548l	CLIP-seq
MIRT1213317	hsa-miR-548u	CLIP-seq
MIRT1213318	hsa-miR-548w	CLIP-seq
MIRT1213319	hsa-miR-548x	CLIP-seq
MIRT1213320	hsa-miR-548y	CLIP-seq
MIRT1213321	hsa-miR-548z	CLIP-seq
MIRT1213322	hsa-miR-559	CLIP-seq
MIRT1213323	hsa-miR-586	CLIP-seq
MIRT1213324	hsa-miR-590-3p	CLIP-seq
MIRT1213325	hsa-miR-610	CLIP-seq
MIRT1213326	hsa-miR-663b	CLIP-seq
MIRT1213327	hsa-miR-764	CLIP-seq
MIRT1213328	hsa-miR-767-3p	CLIP-seq
MIRT1213329	hsa-miR-921	CLIP-seq
MIRT1213330	hsa-miR-936	CLIP-seq
MIRT1213239	hsa-miR-98	CLIP-seq
MIRT1213279	hsa-miR-4328	CLIP-seq
MIRT1213252	hsa-miR-2278	CLIP-seq
MIRT1213210	hsa-let-7a	CLIP-seq
MIRT1213211	hsa-let-7b	CLIP-seq
MIRT1213212	hsa-let-7c	CLIP-seq
MIRT1213213	hsa-let-7d	CLIP-seq
MIRT1213214	hsa-let-7e	CLIP-seq
MIRT1213215	hsa-let-7f	CLIP-seq
MIRT1213216	hsa-let-7g	CLIP-seq
MIRT1213217	hsa-let-7i	CLIP-seq
MIRT1213222	hsa-miR-202	CLIP-seq
MIRT1213251	hsa-miR-224	CLIP-seq
MIRT2061309	hsa-miR-27a	CLIP-seq
MIRT2061310	hsa-miR-27b	CLIP-seq
MIRT1213224	hsa-miR-3120-3p	CLIP-seq
MIRT1213262	hsa-miR-3192	CLIP-seq
MIRT2061311	hsa-miR-323b-5p	CLIP-seq
MIRT2061312	hsa-miR-3617	CLIP-seq
MIRT1213264	hsa-miR-3649	CLIP-seq
MIRT2061313	hsa-miR-3653	CLIP-seq
MIRT2061314	hsa-miR-3658	CLIP-seq
MIRT1213266	hsa-miR-3714	CLIP-seq
MIRT2061315	hsa-miR-3925-3p	CLIP-seq
MIRT2061316	hsa-miR-3928	CLIP-seq
MIRT2061317	hsa-miR-421	CLIP-seq
MIRT1213277	hsa-miR-4314	CLIP-seq
MIRT1213232	hsa-miR-4458	CLIP-seq
MIRT2061318	hsa-miR-4470	CLIP-seq
MIRT1213233	hsa-miR-4500	CLIP-seq
MIRT2061319	hsa-miR-4643	CLIP-seq
MIRT1213284	hsa-miR-4646-5p	CLIP-seq
MIRT1213234	hsa-miR-4662a-3p	CLIP-seq
MIRT2061320	hsa-miR-4717-3p	CLIP-seq
MIRT1213286	hsa-miR-4719	CLIP-seq
MIRT2061321	hsa-miR-4753-3p	CLIP-seq
MIRT1213289	hsa-miR-4763-5p	CLIP-seq
MIRT1213293	hsa-miR-492	CLIP-seq
MIRT2061322	hsa-miR-515-5p	CLIP-seq
MIRT2061323	hsa-miR-552	CLIP-seq
MIRT2061324	hsa-miR-641	CLIP-seq
MIRT2061325	hsa-miR-642b	CLIP-seq
MIRT2061326	hsa-miR-7	CLIP-seq
MIRT2061327	hsa-miR-766	CLIP-seq
MIRT1213236	hsa-miR-873	CLIP-seq
MIRT1213239	hsa-miR-98	CLIP-seq
MIRT1213252	hsa-miR-2278	CLIP-seq
MIRT1213279	hsa-miR-4328	CLIP-seq
MIRT2289861	hsa-miR-323-3p	CLIP-seq
MIRT2289862	hsa-miR-4653-3p	CLIP-seq
MIRT2289863	hsa-miR-582-3p	CLIP-seq
MIRT1213275	hsa-miR-4307	CLIP-seq
MIRT2392117	hsa-miR-4421	CLIP-seq
MIRT2392118	hsa-miR-4652-3p	CLIP-seq
MIRT1213294	hsa-miR-500a	CLIP-seq
MIRT1213252	hsa-miR-2278	CLIP-seq
MIRT1213252	hsa-miR-2278	CLIP-seq
MIRT2439206	hsa-miR-1228	CLIP-seq
MIRT2439207	hsa-miR-1303	CLIP-seq
MIRT2439208	hsa-miR-539	CLIP-seq
MIRT2439206	hsa-miR-1228	CLIP-seq
MIRT2439207	hsa-miR-1303	CLIP-seq
MIRT2439208	hsa-miR-539	CLIP-seq
MIRT2439206	hsa-miR-1228	CLIP-seq
MIRT1213241	hsa-miR-125a-3p	CLIP-seq
MIRT2439207	hsa-miR-1303	CLIP-seq
MIRT1213262	hsa-miR-3192	CLIP-seq
MIRT1213264	hsa-miR-3649	CLIP-seq
MIRT1213272	hsa-miR-3934	CLIP-seq
MIRT1213277	hsa-miR-4314	CLIP-seq
MIRT1213284	hsa-miR-4646-5p	CLIP-seq
MIRT1213289	hsa-miR-4763-5p	CLIP-seq
MIRT1213293	hsa-miR-492	CLIP-seq
MIRT1213327	hsa-miR-764	CLIP-seq
MIRT1213328	hsa-miR-767-3p	CLIP-seq
MIRT1213218	hsa-miR-1178	CLIP-seq
MIRT2687081	hsa-miR-1226	CLIP-seq
MIRT2439206	hsa-miR-1228	CLIP-seq
MIRT1213220	hsa-miR-1250	CLIP-seq
MIRT1213241	hsa-miR-125a-3p	CLIP-seq
MIRT2439207	hsa-miR-1303	CLIP-seq
MIRT1213262	hsa-miR-3192	CLIP-seq
MIRT1213264	hsa-miR-3649	CLIP-seq
MIRT2061313	hsa-miR-3653	CLIP-seq
MIRT2061314	hsa-miR-3658	CLIP-seq
MIRT1213230	hsa-miR-3907	CLIP-seq
MIRT1213272	hsa-miR-3934	CLIP-seq
MIRT1213277	hsa-miR-4314	CLIP-seq
MIRT2061318	hsa-miR-4470	CLIP-seq
MIRT2061319	hsa-miR-4643	CLIP-seq
MIRT1213284	hsa-miR-4646-5p	CLIP-seq
MIRT2687082	hsa-miR-4715-3p	CLIP-seq
MIRT2061320	hsa-miR-4717-3p	CLIP-seq
MIRT1213289	hsa-miR-4763-5p	CLIP-seq
MIRT1213293	hsa-miR-492	CLIP-seq
MIRT2687083	hsa-miR-520d-5p	CLIP-seq
MIRT2687084	hsa-miR-524-5p	CLIP-seq
MIRT2687085	hsa-miR-634	CLIP-seq
MIRT2061325	hsa-miR-642b	CLIP-seq
MIRT1213327	hsa-miR-764	CLIP-seq
MIRT1213328	hsa-miR-767-3p	CLIP-seq
MIRT1213330	hsa-miR-936	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP2	Unknown	11931653

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000103	Process	Sulfate assimilation	IBA
GO:0000103	Process	Sulfate assimilation	IEA
GO:0000103	Process	Sulfate assimilation	IMP	19474428
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004020	Function	Adenylylsulfate kinase activity	IBA
GO:0004020	Function	Adenylylsulfate kinase activity	IC	23824674
GO:0004020	Function	Adenylylsulfate kinase activity	IEA
GO:0004020	Function	Adenylylsulfate kinase activity	TAS
GO:0004781	Function	Sulfate adenylyltransferase (ATP) activity	IC	23824674
GO:0004781	Function	Sulfate adenylyltransferase (ATP) activity	IEA
GO:0004781	Function	Sulfate adenylyltransferase (ATP) activity	ISS
GO:0004781	Function	Sulfate adenylyltransferase (ATP) activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	22242175
GO:0005829	Component	Cytosol	IDA	22242175
GO:0005829	Component	Cytosol	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	ISS
GO:0042445	Process	Hormone metabolic process	IMP	19474428
GO:0050428	Process	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process	IBA
GO:0050428	Process	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process	IEA
GO:0050428	Process	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process	IMP	23824674
GO:0050428	Process	3'-phosphoadenosine 5'-phosphosulfate biosynthetic process	TAS

MIM	HGNC	e!Ensembl
603005	8604	ENSG00000198682

O95340

Protein name

Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPS synthase 2) (PAPSS 2) (Sulfurylase kinase 2) (SK 2) (SK2) [Includes: Sulfate adenylyltransferase (EC 2.7.7.4) (ATP-sulfurylase) (Sulfate adenylate transferase) (SAT); Adenylyl-sulfate kin

Protein function

Bifunctional enzyme with both ATP sulfurylase and APS kinase activity, which mediates two steps in the sulfate activation pathway. The first step is the transfer of a sulfate group to ATP to yield adenosine 5'-phosphosulfate (APS), and the secon

PDB

2AX4 , 7FH3 , 7FHA , 8I1N , 8I1O

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01583	APS_kinase	41 → 199		Domain
PF14306	PUA_2	215 → 376	PUA-like domain	Domain
PF01747	ATP-sulfurylase	384 → 607	ATP-sulfurylase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in cartilage and adrenal gland. {ECO:0000269|PubMed:19474428}.

Sequence

MSGIKKQKTENQQKSTNVVYQAHHVSRNKRGQVVGTRGGFRGCTVWLTGLSGAGKTTISF
ALEEYLVSHAIPCYSLDGDNVRHGLNRNLGFSPGDREENIRRIAEVAKLFADAGLVCITS
FISPFAKDRENARKIHESAGLPFFEIFVDAPLNICESRDVKGLYKRARAGEIKGFTGIDS
DYEKPETPERVLKTNLSTVSDCVHQVVELLQEQNIVPYTIIKDIHELFVPENKLDHVRAE
AETLPSLSITKLDLQWVQVLSEGWATPLKGFMREKEYLQVMHFDTLLDDGVINMSIPIVL
PVSAEDKTRLEGCSKFVLAHGGRRVAILRDAEFYEHRKEERCSRVWGTTCTKHPHIKMVM
ESGDWLVGGDLQVLEKIRWNDGLDQYRLTPLELKQKCKEMNADAVFAFQLRNPVHNGHAL
LMQDTRRRLLERGYKHPVLLLHPLGGWTKDDDVPLDWRMKQHAAVLEEGVLDPKSTIVAI
FPSPMLYAGPTEVQWHCRSRMIAGANFYIVGRDPAGMPHPETKKDLYEPTHGGKVLSMAP
GLTSVEIIPFRVAAYNKAKKAMDFYDPARHNEFDFISGTRMRKLAREGENPPDGFMAPKA
WKVLTDYYRSLEKN

Sequence length

614

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Selenocompound metabolism Sulfur metabolism Metabolic pathways Sulfur cycle		Transport and synthesis of PAPS Defective PAPSS2 causes SEMD-PA

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive brachyolmia	Pathogenic	rs121908952	RCV002221468	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachyolmia	Likely pathogenic; Pathogenic	rs374379931	RCV000611427	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PAPSS2-related disorder	Likely pathogenic; Pathogenic	rs374379931, rs201203612	RCV003420054 RCV003425987	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal dysplasia, PAPSS2 type	Pathogenic; Likely pathogenic	rs17173698, rs760686756, rs138386772, rs2131732940, rs1257774356, rs2131731349, rs981095457, rs794727710, rs2131732455, rs760085327, rs797045099, rs121908950, rs121908951, rs121908952, rs2492825486 View all (13 more)	RCV003877875 RCV001390642 RCV001387520 RCV002006670 RCV002221994 View all (23 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAKISTANI TYPE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acne	Acne	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anovulation	Anovulation	Pubtator	19474428, 25594860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive brachyolmia	Brachyolmia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachyolmia	Brachyolmia	BEFREE	22791835, 23824674, 31313512		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachyolmia	Brachyolmia	Pubtator	31313512, 36421772	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachyolmia	Brachyolmia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	11558903, 30546414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30545309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	11558903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	31461705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30283018	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	25594860, 31313512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	31461705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of lower limb	Hypoplasia Of Lower Limb	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15726110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	15726110	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lumbar scoliosis	Lumbar scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15726110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	29743239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	11558903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	12716056		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23861462, 25594860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25594860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious pubarche	Precocious Pubarche	BEFREE	19474428, 25594860, 31461705		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious pubarche	Precocious Pubarche	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25679447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	BEFREE	22791835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	12716056, 15726110, 9771708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal Dysplasia, Pakistani Type	Spondyloepiphyseal dysplasia	BEFREE	15726110, 23633440		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, Pakistani Type	Spondyloepiphyseal dysplasia	GENOMICS_ENGLAND_DG	19474428		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, Pakistani Type	Spondyloepiphyseal dysplasia	CLINVAR_DG	19474428, 22791835, 23633440, 23824674, 9771708		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, Pakistani Type	Spondyloepiphyseal dysplasia	UNIPROT_DG	19474428, 23633440, 23824674, 25594860, 9714015		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, Pakistani Type	Spondyloepiphyseal dysplasia	ORPHANET_DG	9771708		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal Dysplasia, Pakistani Type	Spondyloepiphyseal dysplasia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepimetaphyseal dysplasia, PAPSS2 type	Spondyloepiphyseal dysplasia	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Neoplasms	Thyroid cancer	Pubtator	37355885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34323415	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33196683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PAPSS2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2)