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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	113189
Gene name Gene Name - the full gene name approved by the HGNC.	Carbohydrate sulfotransferase 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CHST14
Synonyms (NCBI Gene) Gene synonyms aliases	ATCS, D4ST1, EDSMC1, HNK1ST
Disease Acronyms (UniProt) Disease acronyms from UniProt database	EDSMC1
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(21)

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

Show/Hide all(39)

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

Show/Hide all(12)

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

MIM	HGNC	e!Ensembl
608429	24464	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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed at high level in pituitary gland, placenta, uterus and thyroid. {ECO:0000269|PubMed:11470797}.

Sequence

MFPRPLTPLAAPNGAEPLGRALRRAPLGRARAGLGGPPLLLPSMLMFAVIVASSGLLLMI
ERGILAEMKPLPLHPPGREGTAWRGKAPKPGGLSLRAGDADLQVRQDVRNRTLRAVCGQP
GMPRDPWDLPVGQRRTLLRHILVSDRYRFLYCYVPKVACSNWKRVMKVLAGVLDSVDVRL
KMDHRSDLVFLADLRPEEIRYRLQHYFKFLFVREPLERLLSAYRNKFGEIREYQQRYGAE
IVRRYRAGAGPSPAGDDVTFPEFLRYLVDEDPERMNEHWMPVYHLCQPCAVHYDFVGSYE
RLEADANQVLEWVRAPPHVRFPARQAWYRPASPESLHYHLCSAPRALLQDVLPKYILDFS
LFAYPLPNVTKEACQQ

Sequence length

376

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate		Dermatan sulfate biosynthesis Defective CHST14 causes EDS, musculocontractural type

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835 View all (138 more)
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
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 View all (32 more)
Distal arthrogryposis	Distal arthrogryposis syndrome	rs121434638, rs104894127, rs104894129, rs137853305, rs137853306, rs199476153, rs199476147, rs121913619, rs879255230, rs387906657, rs387906658, rs199474721, rs587776917, rs587776918, rs587776919 View all (41 more)
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 View all (29 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
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 View all (152 more)
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

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ehlers-Danlos Syndrome	Ehlers-Danlos syndrome, musculocontractural type	GenCC
Alzheimer disease	Alzheimer disease	GWAS

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining
Constipation	Associate	34815299
Contracture	Associate	34815299
Cryptorchidism	Associate	34815299
Dental Fissures	Associate	34815299
Developmental Disabilities	Associate	34815299
Diverticulum	Associate	37239439
Diverticulum Colon	Associate	37239439
Ehlers Danlos Syndrome	Associate	22407744, 26373698, 28238810, 30249733
Ehlers Danlos Syndrome musculocontractural type 1	Associate	20004762, 26373698, 28238810, 30249733, 32130795, 34815299, 36981001, 37239439
Ehlers Danlos syndrome type 3	Associate	22407744, 34815299, 36981001
Gastrointestinal Diseases	Associate	37239439
Hypertelorism	Associate	34815299
Intracranial Aneurysm	Associate	34668355
Joint Dislocations	Associate	34815299
Joint Instability	Associate	34815299
Liver Failure Acute	Associate	26373698
Muscle Hypotonia	Associate	34815299
Muscle Weakness	Associate	22407744
Muscular Atrophy	Associate	22407744
Muscular Diseases	Associate	22407744
Musculoskeletal Diseases	Associate	36981001
Osteogenesis Imperfecta	Associate	36981001
Osteogenesis imperfecta type 1A	Associate	34668355
Refractive Errors	Associate	34815299
Renal cell carcinoma 1	Associate	22407744
Retinal Detachment	Associate	26373698
Subarachnoid Hemorrhage	Associate	26373698
Subcutaneous Emphysema	Associate	34815299
Talipes	Associate	34815299

CHST14 (carbohydrate sulfotransferase 14)