CHST14 (carbohydrate sulfotransferase 14)

Gene

• Entrez ID: 113189
• Gene name: Carbohydrate sulfotransferase 14
• Gene symbol: CHST14
• Synonyms (NCBI Gene): 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	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

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

• 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

Pathways

KEGG:

Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Reactome:

Dermatan sulfate biosynthesis
Defective CHST14 causes EDS, musculocontractural type

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs121908258, rs1555410784	RCV002444414 RCV003302737	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHST14-related disorder	Likely pathogenic; Pathogenic	rs1247205097	RCV003962376	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ehlers-Danlos syndrome, musculocontractural type	Likely pathogenic; Pathogenic	rs1256212335, rs1293915082, rs121908257, rs121908258, rs267606729, rs1424445748, rs2543005630, rs2543006253, rs2543006403, rs2543005745, rs1555410768, rs1555410784, rs1247205097, rs1566969054, rs1595869467, rs1595869602	RCV001384339 RCV001882628 RCV000002427 RCV000002429 RCV000002430 RCV002653343 RCV002671275 RCV002740615 RCV003517062 RCV003635014 RCV003517200 RCV002524105 RCV000500082 RCV000697604 RCV000809237 RCV001007706	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLUBFOOT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CTD_human_DG	20004762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	BEFREE	28238810		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	34815299	Associate	★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	34815299	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	34815299	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34815299	Associate	★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	20533528, 20842734, 21744491, 22407744, 22581468, 22987394, 24443026, 25703627, 26373698, 27375131, 28238810, 29206923		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ehlers-Danlos syndrome kyphoscoliotic type	Kyphoscoliotic Ehlers-Danlos Syndrome	BEFREE	21744491		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome musculocontractural type	Musculocontractural Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	Musculocontractural Ehlers-Danlos Syndrome	BEFREE	20004762, 20842734, 22987394		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	Musculocontractural Ehlers-Danlos Syndrome	UNIPROT_DG	20004762, 20533528, 20842734		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	Musculocontractural Ehlers-Danlos Syndrome	GENOMICS_ENGLAND_DG	20004762, 25703627, 26646600, 26872206, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	Musculocontractural Ehlers-Danlos Syndrome	ORPHANET_DG	20533528, 22581468		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	Musculocontractural Ehlers-Danlos Syndrome	CLINVAR_DG	20842734, 22987394, 26373698		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1	Musculocontractural Ehlers-Danlos Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	37239439	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	34668355	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	26373698	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	27415467		★☆☆☆☆ Found in Text Mining only
Marden Walker like syndrome	Marden Walker Like Syndrome	BEFREE	27375131		★☆☆☆☆ Found in Text Mining only
MARDEN-WALKER SYNDROME	Marden-Walker Syndrome	BEFREE	22987394, 27375131		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Abnormalities	Mouth Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Musculocontractural Ehlers-Danlos syndrome	Musculocontractural Ehlers-Danlos Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	22407744		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CTD_human_DG	20842734		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	36981001	Associate	★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	27415467		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Detachment	Retinal detachment	Pubtator	26373698	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	BEFREE	28238810		★☆☆☆☆ Found in Text Mining only
Thumb in palm deformity	Adducted thumbs syndrome	CTD_human_DG	20004762		★☆☆☆☆ Found in Text Mining only