CHST14 (carbohydrate sulfotransferase 14)

Gene

• Entrez ID: 113189
• Gene name: Carbohydrate sulfotransferase 14
• Gene symbol: CHST14
• Synonyms: ATCS, D4ST1, EDSMC1, HNK1ST
• Chromosome: 15
• Chromosome location: 15q15.1
• Summary: This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121908257	G>C	Pathogenic	Missense variant, coding sequence variant
rs121908258	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs139229738	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144629123	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606727	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs267606728	T>A	Pathogenic	Coding sequence variant, missense variant
rs267606729	C>T	Pathogenic	Coding sequence variant, missense variant
rs267606730	A>T	Pathogenic	Coding sequence variant, stop gained
rs267606731	G>C	Pathogenic	Coding sequence variant, missense variant
rs397514706	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs397518432	G>-	Pathogenic	Coding sequence variant, stop gained
rs794726956	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1247205097	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555410747	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555410768	GCCCTGCAGGCGACGATGTCACATTCCCCGAGTTCCTGAGATACCTGGTGGATGAGGACCCTGAGCGCATGAATGAGCATTGGATGCCCGTGTACCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555410784	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555410785	->GTACCGGCCAGCCAGCCCCG	Pathogenic	Coding sequence variant, frameshift variant
rs1566969054	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595869290	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595869467	TGGA>GACAG	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs1595869602	->A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004912	hsa-miR-124-3p	Microarray	15685193
MIRT016493	hsa-miR-193b-3p	Microarray	20304954
MIRT004912	hsa-miR-124-3p	Microarray	15685193
MIRT050927	hsa-miR-17-5p	CLASH	23622248
MIRT048334	hsa-miR-106a-5p	CLASH	23622248
MIRT495226	hsa-miR-6507-3p	PAR-CLIP	23708386
MIRT495225	hsa-miR-2355-5p	PAR-CLIP	23708386
MIRT495226	hsa-miR-6507-3p	PAR-CLIP	23708386
MIRT495225	hsa-miR-2355-5p	PAR-CLIP	23708386
MIRT892249	hsa-miR-124	CLIP-seq
MIRT892250	hsa-miR-1261	CLIP-seq
MIRT892251	hsa-miR-1275	CLIP-seq
MIRT892252	hsa-miR-3165	CLIP-seq
MIRT892253	hsa-miR-3672	CLIP-seq
MIRT892254	hsa-miR-383	CLIP-seq
MIRT892255	hsa-miR-4463	CLIP-seq
MIRT892256	hsa-miR-4468	CLIP-seq
MIRT892257	hsa-miR-4525	CLIP-seq
MIRT892258	hsa-miR-4665-5p	CLIP-seq
MIRT892259	hsa-miR-4694-3p	CLIP-seq
MIRT892260	hsa-miR-4723-5p	CLIP-seq
MIRT892261	hsa-miR-4729	CLIP-seq
MIRT892262	hsa-miR-506	CLIP-seq
MIRT892263	hsa-miR-522	CLIP-seq
MIRT892264	hsa-miR-548ag	CLIP-seq
MIRT892265	hsa-miR-548ai	CLIP-seq
MIRT892266	hsa-miR-548an	CLIP-seq
MIRT892267	hsa-miR-625	CLIP-seq
MIRT1964416	hsa-miR-1226	CLIP-seq
MIRT1964417	hsa-miR-4758-3p	CLIP-seq
MIRT2447028	hsa-miR-4691-3p	CLIP-seq
MIRT2447029	hsa-miR-634	CLIP-seq
MIRT2447030	hsa-miR-885-3p	CLIP-seq
MIRT2447028	hsa-miR-4691-3p	CLIP-seq
MIRT2447029	hsa-miR-634	CLIP-seq
MIRT2447030	hsa-miR-885-3p	CLIP-seq
MIRT2447028	hsa-miR-4691-3p	CLIP-seq
MIRT2447029	hsa-miR-634	CLIP-seq
MIRT2447030	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001537	Function	N-acetylgalactosamine 4-O-sulfotransferase activity	IDA	11470797
GO:0001537	Function	N-acetylgalactosamine 4-O-sulfotransferase activity	TAS
GO:0008146	Function	Sulfotransferase activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	NAS	11470797
GO:0016051	Process	Carbohydrate biosynthetic process	IEA
GO:0030208	Process	Dermatan sulfate biosynthetic process	IDA	11470797
GO:0030208	Process	Dermatan sulfate biosynthetic process	TAS
GO:0042301	Function	Phosphate ion binding	NAS	11470797
GO:0050655	Process	Dermatan sulfate proteoglycan metabolic process	IBA	21873635
GO:0050655	Process	Dermatan sulfate proteoglycan metabolic process	IDA	11470797
GO:0070062	Component	Extracellular exosome	HDA	19199708

Other IDs

• MIM: 608429
• HGNC: 24464
• e!Ensembl: ENSG00000169105

Protein

• UniProt ID: Q8NCH0
• Protein name: Carbohydrate sulfotransferase 14 (EC 2.8.2.35) (Dermatan 4-sulfotransferase 1) (D4ST-1) (hD4ST1)
• Protein function: Catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of dermatan sulfate. Plays a pivotal role in the formation of 4-0-sulfated IdoA blocks in dermatan sulfate. Transfers sulfate to the C-4 hydroxyl of be
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03567	Sulfotransfer_2	139 → 365	Sulfotransferase family	Domain

• Sequence:

  MFPRPLTPLAAPNGAEPLGRALRRAPLGRARAGLGGPPLLLPSMLMFAVIVASSGLLLMI
  ERGILAEMKPLPLHPPGREGTAWRGKAPKPGGLSLRAGDADLQVRQDVRNRTLRAVCGQP
  GMPRDPWDLPVGQRRTLLRHILVSDRYRFLYCYVPKVACSNWKRVMKVLAGVLDSVDVRL
  KMDHRSDLVFLADLRPEEIRYRLQHYFKFLFVREPLERLLSAYRNKFGEIREYQQRYGAE
  IVRRYRAGAGPSPAGDDVTFPEFLRYLVDEDPERMNEHWMPVYHLCQPCAVHYDFVGSYE
  RLEADANQVLEWVRAPPHVRFPARQAWYRPASPESLHYHLCSAPRALLQDVLPKYILDFS
  LFAYPLPNVTKEACQQ

• Sequence length: 376

Pathways

KEGG:

Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Reactome:

Dermatan sulfate biosynthesis
Defective CHST14 causes EDS, musculocontractural type

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Distal arthrogryposis	Distal arthrogryposis syndrome	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919, rs587776920, rs587777129, rs587777130, rs587777131, rs199476146, rs606231471, rs370167241, rs765430577, rs878853117, rs878853118, rs1555621138, rs149459910, rs1553566820, rs1553567411, rs1553567937, rs1341894581, rs201987709, rs1554658995, rs1554289078, rs762979130, rs1554659746, rs1555242493, rs1555769818, rs1567973091, rs1563929039, rs1563929143, rs1350968647, rs1356994386, rs1229171141, rs1567559027, rs1563929383, rs113612402, rs1465836003, rs1597490381, rs1190799930, rs767987856, rs1587956195, rs1281970248, rs1575076514, rs1597482824, rs1825151618
Musculocontractural ehlers-danlos syndrome	EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, Ehlers-Danlos syndrome musculocontractural type, Musculocontractural Ehlers-Danlos syndrome	rs121908257, rs121908258, rs267606729, rs267606730, rs267606731, rs1555410785, rs397514706, rs1555410768, rs1555410784, rs1247205097, rs1555410747, rs1566969054, rs1595869467, rs1595869602	20842734, 26373698, 20533528, 25703627, 26646600, 20004762, 26872206, 27604308, 22581468, 22987394
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151	20842734
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	27415467
Retinal detachment	Retinal Detachment	rs1555976049, rs1592230091
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease name	Disease term	dbSNP ID	References
Adducted thumbs syndrome	Thumb in palm deformity		20004762
Arachnodactyly	Arachnodactyly
Brachycephaly	Brachycephaly
Congenital clubfoot	Congenital clubfoot		20004762
Congenital exomphalos	Congenital exomphalos
Congenital malrotation of intestine	Congenital malrotation of intestine
Congenital pectus excavatum	Congenital pectus excavatum
Hiatal hernia	Hiatal Hernia
High palate	Byzanthine arch palate
Hydronephrosis	Hydronephrosis
Microcornea	Microcornea
Microstomia	Microstomia
Motor delay	Clumsiness - motor delay
Mouth abnormalities	Mouth Abnormalities
Posteriorly rotated ear	Posteriorly rotated ear
Prostatic neoplasms	Prostatic Neoplasms		27415467
Strabismus	Strabismus