AiPD: Autoinhibited Protein Database

Q7LGA3

Gene name	HS2ST1 (HS2ST, KIAA0448)
Protein name	Heparan sulfate 2-O-sulfotransferase 1
Names	2-O-sulfotransferase, 2OST
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9653
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

5-101 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

5-101 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q7LGA3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7LGA3-F1	Predicted				AlphaFoldDB

236 variants for Q7LGA3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1660112720 RCV001292561	20	F>*	Neurofacioskeletal syndrome with or without renal agenesis [ClinVar]	Yes	ClinVar dbSNP
rs1651459410 RCV001292558	114	P>*	NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS [ClinVar]	Yes	ClinVar dbSNP
VAR_085252 CA936819 RCV001292560 rs758990524	165	D>Y	Neurofacioskeletal syndrome with or without renal agenesis NFSRA [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs1651972168 VAR_085253 RCV001292559	176	F>S	NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS NFSRA [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
VAR_085254 RCV001292562 rs1651973144	189	R>S	Neurofacioskeletal syndrome with or without renal agenesis NFSRA [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
rs1427291570 CA341127121	4	L>P		No	ClinGen gnomAD
rs1427291570 CA341127122	4	L>R		No	ClinGen gnomAD
CA25963676 rs572780001	5	R>S		No	ClinGen 1000Genomes
CA936664 rs763232630	7	M>I		No	ClinGen ExAC TOPMed gnomAD
CA25963679 rs959247205	8	M>V		No	ClinGen Ensembl
CA936667 rs757656733	10	P>L		No	ClinGen ExAC gnomAD
rs1165886971 CA341127168	11	K>R		No	ClinGen TOPMed
rs1363772222 CA341127185	13	Q>K		No	ClinGen TOPMed gnomAD
CA341127193 rs1380467238	13	Q>R		No	ClinGen gnomAD
CA936669 rs749838694	16	A>V		No	ClinGen ExAC gnomAD
CA341127234 rs1321861049	17	V>G		No	ClinGen gnomAD
TCGA novel	17	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341127243 rs1570416711	18	V>G		No	ClinGen Ensembl
rs755670589 CA936670	18	V>M		No	ClinGen ExAC TOPMed gnomAD
CA341127251 rs1570416728	19	A>G		No	ClinGen Ensembl
CA341127244 rs1358260945	19	A>S		No	ClinGen gnomAD
CA341127263 rs1265798541	20	F>L		No	ClinGen gnomAD
CA341127283 rs1570416745	22	V>G		No	ClinGen Ensembl
rs1186504135 CA341127289	23	A>S		No	ClinGen gnomAD
rs754723027 CA936673	23	A>V		No	ClinGen ExAC gnomAD
rs778518464 CA936674	24	M>V		No	ClinGen ExAC gnomAD
CA341127310 rs1161721585	25	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA341127319 rs1420577364	26	F>L		No	ClinGen gnomAD
CA341127322 rs1468187189	26	F>Y		No	ClinGen TOPMed
rs777782100 CA936677	29	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1288286237 CA341127377	30	Q>H		No	ClinGen gnomAD
rs80258447 CA341127392	32	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs80258447 CA936678	32	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA936679 rs769864274	36	E>K		No	ClinGen ExAC gnomAD
CA341127457 rs1342851328	37	S>Y		No	ClinGen TOPMed
rs763139811 CA936681	38	R>C		No	ClinGen ExAC TOPMed gnomAD
CA341127464 rs763139811	38	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	38	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA936684 rs148556650	39	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774540351 CA936683	39	S>P		No	ClinGen ExAC gnomAD
rs1257141591 CA341127490	41	L>I		No	ClinGen gnomAD
rs1204237989 CA341131279	44	A>S		No	ClinGen gnomAD
CA936743 rs775025973	45	I>T		No	ClinGen ExAC gnomAD
rs147264643 CA936742	45	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762375562 CA936744	46	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs983091583 CA26009168	48	H>L		No	ClinGen Ensembl
rs773981936 CA936746	49	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs865888400 CA26009172 COSM168989	51	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA341131321 rs1179138633	51	R>Q		No	ClinGen gnomAD
TCGA novel	52	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA26009174 rs986791348	53	I>V		No	ClinGen TOPMed
rs761491625 CA936747	54	E>Q		No	ClinGen ExAC gnomAD
rs767275935 CA936748	56	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA936749 rs750206376	58	T>A		No	ClinGen ExAC gnomAD
CA341131372 rs1469402875	59	M>T		No	ClinGen gnomAD
CA936750 rs760621318	59	M>V		No	ClinGen ExAC TOPMed gnomAD
CA936751 rs376924859	60	D>N		No	ClinGen ESP ExAC gnomAD
CA341131382 rs1426099591	60	D>V		No	ClinGen TOPMed gnomAD
CA341131391 rs1303878411	62	P>T		No	ClinGen TOPMed
rs147874594 CA26009185	63	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs147874594 CA936754	63	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1748636 CA936753 rs368496293 COSM1748637	63	R>W	Variant assessed as Somatic; 0.0001386 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1377400453 CA341131411	65	D>G		No	ClinGen gnomAD
CA936755 rs139223877	66	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs535072864 CA26009190	68	L>V		No	ClinGen 1000Genomes gnomAD
rs145020296 CA936756	69	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs746253795 CA936758	70	E>G		No	ClinGen ExAC gnomAD
CA26009196 rs371452105	71	E>G		No	ClinGen Ensembl
rs770268919 CA936759	71	E>K		No	ClinGen ExAC gnomAD
CA936761 rs749866382	72	E>K		No	ClinGen ExAC TOPMed gnomAD
CA936762 rs768152966	73	D>G		No	ClinGen ExAC
CA341131460 rs1267524560	73	D>H		No	ClinGen TOPMed
rs1202017328 CA341131469	74	M>K		No	ClinGen gnomAD
rs1310151673 CA341131477	75	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	76	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1374877778 CA341131516	80	R>S		No	ClinGen TOPMed gnomAD
rs1460519666 CA341131525	82	P>A		No	ClinGen gnomAD
rs761405256 CA936764	84	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	84	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM197713 CA341131552 rs1244937916	86	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA341131599 rs766250863	93	A>S		No	ClinGen ExAC TOPMed gnomAD
CA936768 rs766250863	93	A>T		No	ClinGen ExAC TOPMed gnomAD
CA341131627 rs1308815423	97	C>Y		No	ClinGen gnomAD
rs1224575792 CA341131652	100	N>K		No	ClinGen gnomAD
rs919997259 CA26009206	100	N>S		No	ClinGen TOPMed
CA936769 rs753711482	103	H>R		No	ClinGen ExAC gnomAD
rs1359743050 CA341131676	104	V>I		No	ClinGen gnomAD
CA341131684 rs1406916255	105	L>F		No	ClinGen TOPMed
rs1238033093 CA341131707	108	N>S		No	ClinGen gnomAD
rs759589257 CA936770	110	T>S		No	ClinGen ExAC gnomAD
TCGA novel	112	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351483004 CA341131747	114	P>A		No	ClinGen TOPMed
CA936771 rs372236373	115	V>E		No	ClinGen ESP ExAC gnomAD
CA341131763 rs1326790077	116	M>I		No	ClinGen TOPMed
TCGA novel	120	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341131787 rs1490272391	120	D>N		No	ClinGen gnomAD
rs773041961 CA26011461	122	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773041961 CA936787	122	V>M		No	ClinGen ExAC TOPMed gnomAD
rs371490979 CA936788	123	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs774505983 CA936789 COSM197715 COSM2244623	123	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA936790 rs774505983	123	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1451550073 CA341131822	124	F>I		No	ClinGen gnomAD
CA341131823 rs1451550073	124	F>L		No	ClinGen gnomAD
rs541358577 CA936791	126	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341131844 rs917592470	127	N>D		No	ClinGen TOPMed gnomAD
CA26011467 rs917592470	127	N>Y		No	ClinGen TOPMed gnomAD
CA341131857 rs1406252160	129	T>A		No	ClinGen gnomAD
rs1415045526 CA341131861	129	T>S		No	ClinGen gnomAD
rs1454117965 CA341131888	133	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750608584 CA936792	133	E>G		No	ClinGen ExAC gnomAD
CA936796 rs755407735	134	M>I		No	ClinGen ExAC gnomAD
rs766601574 CA936794	134	M>L		No	ClinGen ExAC TOPMed gnomAD
CA936795 rs766601574	134	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1174692455 CA341131899	135	K>Q		No	ClinGen TOPMed
CA936797 rs376591528	136	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs970360802 CA26011474	136	P>R		No	ClinGen TOPMed
rs376591528 CA341131907	136	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	138	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150473780 CA936799	143	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs752360102 CA26011478	144	S>Y		No	ClinGen Ensembl
TCGA novel	145	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755692554 CA26011480	145	Y>H		No	ClinGen Ensembl
rs777381592 CA936800	145	Y>S		No	ClinGen ExAC gnomAD
CA936801 rs571909404	147	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA341132000 rs1179102121	150	K>E		No	ClinGen gnomAD
rs1245694889 CA341132030	152	G>D		No	ClinGen TOPMed
TCGA novel	156	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1222180633 CA341132070	158	I>V		No	ClinGen gnomAD
CA936816 rs755322042	159	Y>H		No	ClinGen ExAC gnomAD
CA936818 rs138285579	160	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1570542986 CA341132104	163	I>V		No	ClinGen Ensembl
rs1481975186 CA341132120	165	D>G		No	ClinGen gnomAD
rs867698885 CA26013193	168	E>*		No	ClinGen Ensembl
TCGA novel	168	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA341132180 rs1557543424	174	Y>C		No	ClinGen Ensembl
CA341132238 rs1408785043	182	D>V		No	ClinGen TOPMed gnomAD
CA341132265 rs1403653565	186	G>E		No	ClinGen gnomAD
rs775469093 CA936828	186	G>R		No	ClinGen ExAC TOPMed gnomAD
rs768667256 CA936830	188	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA936831 rs773095663 COSM3706076 COSM3706075	190	R>Q	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1271211481 CA341132298	192	Q>K		No	ClinGen gnomAD
CA341132309 rs1223417309	193	G>E		No	ClinGen gnomAD
rs1341752742 CA341132306	193	G>R		No	ClinGen gnomAD
CA341132318 rs1490774615	194	D>E		No	ClinGen gnomAD
CA341132312 rs1292243528	194	D>N		No	ClinGen gnomAD
CA936832 rs768493387	195	K>Q		No	ClinGen ExAC gnomAD
CA341129551 rs1557545320	197	T>A		No	ClinGen Ensembl
CA936851 rs370474084	197	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA341129566 rs1374941582	198	F>S		No	ClinGen TOPMed
CA341129595 rs1282915945	200	E>D		No	ClinGen TOPMed
rs201028364 CA26014341	202	V>I		No	ClinGen TOPMed gnomAD
CA936853 rs776738678	203	A>E		No	ClinGen ExAC TOPMed gnomAD
CA341129623 rs776738678	203	A>G		No	ClinGen ExAC TOPMed gnomAD
CA936852 rs776738678	203	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	204	E>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770036246 CA936854	205	G>R		No	ClinGen ExAC gnomAD
rs775766168 CA936855	206	G>S		No	ClinGen ExAC gnomAD
rs111928216 CA26014348	211	P>S		No	ClinGen Ensembl
CA341129690 rs1388077299	213	K>N		No	ClinGen gnomAD
CA936857 rs764424834 COSM197716	219	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs762271350 CA936861	225	S>T		No	ClinGen ExAC gnomAD
CA936863 rs373595250	227	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373595250 CA936864	227	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772787962 CA936881	233	S>R		No	ClinGen ExAC gnomAD
rs1268161631 CA341130072	237	M>I		No	ClinGen TOPMed
rs1015057052 CA26015486	237	M>T		No	ClinGen Ensembl
CA936884 rs753497640	237	M>V		No	ClinGen ExAC gnomAD
CA341130080 rs1250748483	238	D>V		No	ClinGen gnomAD
rs754636445 CA936885	241	K>R		No	ClinGen ExAC gnomAD
rs754636445 CA936886	241	K>T		No	ClinGen ExAC gnomAD
rs1180498804 CA341130105	242	Y>D		No	ClinGen gnomAD
CA936888 rs368901686	247	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777703191 CA936889	252	G>R		No	ClinGen ExAC gnomAD
CA936890 rs536418990	254	T>A		No	ClinGen ExAC TOPMed gnomAD
CA341130207 rs1246172514	257	L>V		No	ClinGen TOPMed
CA936893 rs749508218	259	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1428014878 CA341130220	259	D>H		No	ClinGen gnomAD
rs768786066 CA936894	262	M>T		No	ClinGen ExAC TOPMed gnomAD
CA936895 rs774740145	266	A>T		No	ClinGen ExAC gnomAD
CA26015500 rs1023959139	267	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA26015502 rs199696267	270	R>G		No	ClinGen Ensembl
rs149462918 CA936897	270	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1570550170 CA341130299	271	F>V		No	ClinGen Ensembl
CA936899 rs556086689	273	R>T		No	ClinGen ExAC TOPMed gnomAD
CA936900 rs371896238	274	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA341130354 rs1369926859	279	Y>C		No	ClinGen TOPMed
rs371323334 CA26015509	280	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776026710 CA936901	280	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM912856 CA341130367 rs1219447885 COSM912855	281	T>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA341130390 rs1188208371	283	K>R		No	ClinGen TOPMed gnomAD
CA26015696 rs372219898	285	S>Y		No	ClinGen ESP
rs1158789968 CA341130409	286	H>Y		No	ClinGen gnomAD
CA26015700 rs867159882	290	T>I		No	ClinGen Ensembl
CA341130451 rs1166692248	292	E>G		No	ClinGen gnomAD
TCGA novel	293	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758982803 CA936921	294	K>N		No	ClinGen ExAC gnomAD
rs769405244 CA936922	296	P>A		No	ClinGen ExAC gnomAD
rs1390292605 CA341130483 COSM1503992	297	T>A	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA936923 rs775119706	298	K>E		No	ClinGen ExAC gnomAD
rs1230065699 CA341130507	300	T>I		No	ClinGen Ensembl
rs139920484 CA936924	301	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341130524 rs1253837528	303	K>R		No	ClinGen TOPMed
CA341130539 rs772130541	305	Q>H		No	ClinGen gnomAD
CA936925 rs143332886	306	Q>*		No	ClinGen ESP ExAC gnomAD
CA936927 rs761772422	308	D>G		No	ClinGen ExAC gnomAD
rs1270538841 CA341130610	315	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA936928 rs767363317	318	E>K		No	ClinGen ExAC
rs1180875946 CA341130685	321	L>V		No	ClinGen TOPMed
CA26015717 rs781246006	322	E>G		No	ClinGen gnomAD
CA341130695 rs1483393114	322	E>Q		No	ClinGen TOPMed
CA936929 rs775149219	324	F>L		No	ClinGen ExAC TOPMed gnomAD
CA936930 rs755005733	326	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1322296184 CA341130782	328	R>G		No	ClinGen gnomAD
rs938167956 CA26015721	330	H>R		No	ClinGen TOPMed
CA936933 rs758716299	332	V>A		No	ClinGen ExAC gnomAD
rs768215826 CA936932	332	V>F		No	ClinGen ExAC TOPMed gnomAD
rs768215826 CA26015724	332	V>I		No	ClinGen ExAC TOPMed gnomAD
rs867578348 CA26015728 COSM912858	333	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs867578348 CA341130843	333	R>G		No	ClinGen TOPMed gnomAD
CA936934 rs145331906	333	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA341130871 rs761423535	336	D>G		No	ClinGen ExAC TOPMed gnomAD
CA936935 rs761423535	336	D>V		No	ClinGen ExAC TOPMed gnomAD
rs771409447 CA936936	341	I>L		No	ClinGen ExAC
rs201845372 CA936938	343	A>S		No	ClinGen ExAC TOPMed gnomAD
rs201845372 CA341130914	343	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1163865908 CA341130920	344	Q>E		No	ClinGen TOPMed
CA936939 rs764774406	344	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA936940 rs144914615	346	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA341130945 rs1378947243	347	F>S		No	ClinGen gnomAD
TCGA novel	348	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392305071 CA341130963	349	E>D		No	ClinGen gnomAD
rs1290540901 CA341130972 TCGA novel	350	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA936942 rs768331059	352	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1228245059 CA341130992	353	P>L		No	ClinGen gnomAD
CA26015744 rs376551351	355	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA341131014 rs1298956003	357	N>R		No	ClinGen Ensembl

1 associated diseases with Q7LGA3

[MIM: 619194]: Neurofacioskeletal syndrome with or without renal agenesis (NFSRA)

An autosomal recessive syndrome characterized by developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands and feet with broad fingertips and toes, and dysmorphic features such as coarse face, upslanted palpebral fissures, broad nasal tip and wide mouth. Some patients manifest unilateral or bilateral renal agenesis. {ECO:0000269|PubMed:33159882}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive syndrome characterized by developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, flexion contractures, brachydactyly of hands and feet with broad fingertips and toes, and dysmorphic features such as coarse face, upslanted palpebral fissures, broad nasal tip and wide mouth. Some patients manifest unilateral or bilateral renal agenesis. {ECO:0000269|PubMed:33159882}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q7LGA3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q7LGA3

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus membrane ; Single-pass type II membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

2 GO annotations of molecular function

Name	Definition
heparan sulfate 2-O-sulfotransferase activity	Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + heparan sulfate = adenosine 3',5'-bisphosphate + heparan sulfate 2-O-sulfate; results in 2-O-sulfation of iduronic acid residues in heparan sulfate.
sulfotransferase activity	Catalysis of the transfer of a sulfate group from 3'-phosphoadenosine 5'-phosphosulfate to the hydroxyl group of an acceptor, producing the sulfated derivative and 3'-phosphoadenosine 5'-phosphate.

6 GO annotations of biological process

Name	Definition
gene expression	The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.
glycosaminoglycan biosynthetic process	The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars.
heparan sulfate proteoglycan biosynthetic process, enzymatic modification	The modification, often by sulfation, of sugars incorporated into heparan sulfate after polymerization.
heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	The chemical reactions and pathways resulting in the formation of polysaccharide chain component of heparan sulfate proteoglycan.
heparin metabolic process	The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
ureteric bud formation	The developmental process pertaining to the initial formation of the ureteric bud from the Wolffian duct. This process begins when the bud protrudes from the duct and ends when it is a recognizable bud.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q76KB1	HS2ST1	Heparan sulfate 2-O-sulfotransferase 1	Gallus gallus (Chicken)	PR
Q7LGA3	HS2ST1	Heparan sulfate 2-O-sulfotransferase 1	Homo sapiens (Human)	PR
Q8R3H7	Hs2st1	Heparan sulfate 2-O-sulfotransferase 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGLLRIMMPP	KLQLLAVVAF	AVAMLFLENQ	IQKLEESRSK	LERAIARHEV	REIEQRHTMD
70	80	90	100	110	120
GPRQDATLDE	EEDMVIIYNR	VPKTASTSFT	NIAYDLCAKN	KYHVLHINTT	KNNPVMSLQD
130	140	150	160	170	180
QVRFVKNITS	WKEMKPGFYH	GHVSYLDFAK	FGVKKKPIYI	NVIRDPIERL	VSYYYFLRFG
190	200	210	220	230	240
DDYRPGLRRR	KQGDKKTFDE	CVAEGGSDCA	PEKLWLQIPF	FCGHSSECWN	VGSRWAMDQA
250	260	270	280	290	300
KYNLINEYFL	VGVTEELEDF	IMLLEAALPR	FFRGATELYR	TGKKSHLRKT	TEKKLPTKQT
310	320	330	340	350
IAKLQQSDIW	KMENEFYEFA	LEQFQFIRAH	AVREKDGDLY	ILAQNFFYEK	IYPKSN