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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	113189
Gene name	Carbohydrate sulfotransferase 14
Gene symbol	CHST14
Synonyms (NCBI Gene)	ATCSD4ST1EDSMC1HNK1ST
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

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 (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0001537	Function	Dermatan 4-sulfotransferase activity	IDA	11470797
GO:0001537	Function	Dermatan 4-sulfotransferase activity	IEA
GO:0001537	Function	Dermatan 4-sulfotransferase activity	TAS
GO:0005515	Function	Protein binding	IPI	35156780
GO:0005794	Component	Golgi apparatus	IEA
GO:0008146	Function	Sulfotransferase activity	IBA
GO:0008146	Function	Sulfotransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11470797
GO:0016051	Process	Carbohydrate biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0042301	Function	Phosphate ion binding	NAS	11470797
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IDA	11470797
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	TAS
GO:0050655	Process	Dermatan sulfate proteoglycan metabolic process	IBA
GO:0050655	Process	Dermatan sulfate proteoglycan metabolic process	IDA	11470797
GO:0070062	Component	Extracellular exosome	HDA	19199708

MIM	HGNC	e!Ensembl
608429	24464	ENSG00000169105

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

388

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs121908258, rs1555410784	RCV002444414 RCV003302737
CHST14-related disorder	Likely pathogenic; Pathogenic	rs1247205097	RCV003962376
Ehlers-Danlos syndrome, musculocontractural type	Likely pathogenic; Pathogenic	rs1256212335, rs1293915082, rs121908257, rs121908258, rs267606729, rs1424445748, rs2543005630, rs2543006253, rs2543006403, rs2543005745, rs1555410768, rs1555410784, rs1247205097, rs1566969054, rs1595869467, rs1595869602 View all (1 more)	RCV001384339 RCV001882628 RCV000002427 RCV000002429 RCV000002430 RCV002653343 RCV002671275 RCV002740615 RCV003517062 RCV003635014 RCV003517200 RCV002524105 RCV000500082 RCV000697604 RCV000809237 RCV001007706
Ehlers-Danlos syndrome, musculocontractural type 1	Pathogenic; Likely pathogenic	rs2543006302, rs121908257, rs121908258, rs267606729, rs267606730, rs267606731, rs373443856, rs1555410785, rs1247205097, rs1555410747, rs397514706	RCV002283597 RCV001290021 RCV001290020 RCV001290019 RCV000002431 RCV000002432 RCV003234954 RCV000002433 RCV002271341 RCV000515454 RCV000043688

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs267606727, rs267606728	-
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity; Uncertain significance	rs751335857, rs1351996669, rs1894354337, rs139229738, rs144629123, rs866817984, rs200761477	RCV002276928 RCV002277938 RCV002277950 RCV002278224 RCV002278648 RCV002279383 RCV002279464

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)