GALNT3 - polypeptide N-acetylgalactosaminyltransferase 3 Gene

Homo sapiens

Also known as HHS; HFTC; HFTC1; GalNAc-T3

Gene ID: 2591 | Gene type: protein coding

About GALNT3

Cytogenetic location: 2q24.3 Genomic coordinates (GRCh38): 2:165,747,588-165,794,692 (from NCBI)

This gene has 9 transcripts (splice variants), 220 orthologues, 19 paralogues and is associated with 3 phenotypes. Broad expression in stomach (RPKM 20.1), colon (RPKM 15.8) and 19 other tissues.

Summary

This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]

GALNT3 Products(1)

mRNA	Protein	Name
NM_004482.4	NP_004473.2	polypeptide N-acetylgalactosaminyltransferase 3

GALNT3 Protein Structure

Glycos_transf_2

Ricin_B_lectin

0
100
200
300
400
500
633 a.a.

Protein Preferred Names

Protein Names

polypeptide N-acetylgalactosaminyltransferase 3

GalNAc transferase 3

Recombinant GALNT3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70831	GALNT3 Protein, Human (HEK293, His)	Q14435 (Q38-D633)	≥95%

Related Diseases

Diseases

Alias

Tumoral Calcinosis, Hyperphosphatemic, Familial, 1

Hyperphosphatemic Familial Tumoral Calcinosis	Hftc
Hyperostosis-Hyperphosphatemia Syndrome	Familial Hyperphosphatemic Tumoral Calcinosis/Hyperphosphatemic Hyperostosis Syndrome
Tumoral Calcinosis, Hyperphosphatemic, Familial	Phptc
Lipocalcinogranulomatosis	Morbus Teutschlaender
Hhs	Hyperostosis With Hyperphosphatemia
Cortical Hyperostosis With Hyperphosphatemia	Primary Hyperphosphatemic Tumoral Calcinosis
Familial Tumoral Calcinosis	HFTC1
Hypercalcemic Tumoral Calcinosis	Hyperphosphatemia Hyperostosis
Hyperphosphatemia Hyperostosis Syndrome	Hyperphosphatemia Tumoral Calcinosis
Tumoral Calcinosis	Calcinosis, Tumoral, With Hyperphosphatemia
Tumoral Calcinosis, Primary Hyperphosphatemic	Teutschlaender Disease, Familial
Familial Teutschlaender Disease	Tumoral Calcinosis With Hyperphosphatemia
Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome	Ftc/Hhs
Familial Tumoral Calcinosis With Hyperphosphatemia	Teutschlaender Disease
Tumoral Calcinosis Primary Hyperphosphatemic	Calcinosis, Tumoral, Hyperphosphatemic, Familial

Hyperphosphatemia

Hyperostosis

Hypertrophy Of Bone	Bone Hypertrophy
Bone Thickening	Periosteum Thickening

Calcinosis

Pathologic Calcification

Pathologically Calcified Structure

Phosphorus Metabolism Disease

Phosphorus Metabolism Disorders	Disorder Of Phosphorus Metabolism
Phosphorus Disorder	Phosphorus Metabolism Disorder

Conjunctival Deposit

Dental Pulp Calcification

Pulp Calcification	Pulp Calcifications
Pulpal Calcifications	Dental Pulp Stone

Rickets

Vitamin D Deficiency	Vitamin D
Active Rickets	Hypovitaminosis D
Nutritional Rickets	Vitamin D Deficiency Disease
Vitamin-D Deficiency Rickets	Vitamin D-Dependent Rickets
Avitaminosis D	Infantile Osteomalacia
Juvenile Osteomalacia

Metaphyseal Chondrodysplasia, Jansen Type

Metaphyseal Chondrodysplasia, Murk Jansen Type	Jansen'S Metaphyseal Chondrodysplasia
MCDJ	Murk Jansen Type Metaphyseal Chondrodysplasia
Jansen Type Metaphyseal Chondrodysplasia	Jansen Disease
Jansen Metaphyseal Chondrodysplasia	Jansen Metaphyseal Dysostosis
Metaphyseal Chondrodysplasia Murk Jansen Type	Chondrodysplasia, Metaphyseal, Murk Jansen Type

Osteoglophonic Dysplasia

Osteoglophonic Dwarfism	OGD
Fairbank-Keats Syndrome	Osteoglosphonic Dysplasia
Dysplasia, Osteoglophonic

Hypophosphatemic Rickets, Autosomal Dominant

Autosomal Dominant Hypophosphatemic Rickets	ADHR
Autosomal Dominant Hypophosphatemia	Vitamin D-Resistant Rickets, Autosomal Dominant
Hypophosphatemia, Autosomal Dominant	Autosomal Dominant Vitamin D-Resistant Rickets
Rickets, Hypophosphatemic, Autosomal Dominant

Autosomal Recessive Hypophosphatemic Rickets

Arhr	Hypophosphatemic Rickets, Autosomal Recessive
Autosomal Recessive Hypophosphatemic Vitamin D Refractory Rickets

Tumoral Calcinosis, Normophosphatemic, Familial

Normophosphatemic Familial Tumoral Calcinosis	NFTC
Tumoral Calcinosis, Familial, Normophosphatemic	Calcinosis, Tumoral, With Normophosphatemia
Familial Normophosphatemic Tumoral Calcinosis	Tumoral Calcinosis With Normophosphatemia

Mineral Metabolism Disease

Mineral Metabolism Disorder

Disorder Of Mineral Metabolism

Hypophosphatemic Rickets With Hypercalciuria, Hereditary

Hereditary Hypophosphatemic Rickets With Hypercalciuria	HHRH
Hypophosphatemic Rickets With Hypercalciuria	Hypercalciuric Rickets

Hypophosphatemic Rickets, X-Linked Dominant

X-Linked Hypophosphatemia	Xlh
Vitamin D-Resistant Rickets, X-Linked	X-Linked Hypophosphatemic Rickets
XLHR	Hyp
Hypophosphatemic Vitamin D-Resistant Rickets	Hpdr
X-Linked Dominant Hypophosphatemic Rickets	Familial Hypophosphatemic Rickets
Hypophosphatemia, X-Linked	Hypophosphatemia, Vitamin D-Resistant Rickets
Hypophosphatemic Rickets X-Linked Dominant	X-Linked Vitamin D-Resistant Rickets
Hypophophatemia, X-Linked	Hypophophatemic Vitamin D-Resistant Rickets
Hypophosphatemia X-Linked	Vitamin D-Resistant Rickets X-Linked
Vitamin D-Resistant Rickets	Rickets, X-Linked Hypophosphatemic

Tn Polyagglutination Syndrome

Galactosyltransferase Deficiency	Tn Syndrome
TNPS	Tn Polyagglutination Syndrome, Somatic

Hypervitaminosis D

Vitamin D Hyperalimentation

Dental Abscess

Angioid Streaks

Pulmonary Alveolar Microlithiasis

PULAM

Pam

Enthesopathy

Rheumatism

Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1

Hypophosphatemic Nephrolithiasis/Osteoporosis 1	NPHLOP1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1	Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1

Schimmelpenning-Feuerstein-Mims Syndrome

Nevus Sebaceus Of Jadassohn	Organoid Nevus Phakomatosis
Linear Nevus Sebaceous Syndrome	Sfm Syndrome
Jadassohn Nevus Phakomatosis	Jnp
Schimmelpenning Syndrome	Solomon Syndrome
SFM	Linear Sebaceous Nevus Syndrome
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic	Nevus Sebaceus Syndrome
Organoid Nevus Syndrome	Schimmelpenning Feuerstein Mims Syndrome
Sebaceous Nevus Syndrome, Linear	Epidermal Nevus Syndrome, Formerly
Sebaceous Nevus Syndrome Linear	Linear Nevus Sebaceus Syndrome
Epidermal Nevus Syndrome	Ss
Nevus Sebaceous

Mccune-Albright Syndrome

Mass Syndrome	Polyostotic Fibrous Dysplasia
MAS	Fibrous Dysplasia Of Bone
Albright Syndrome	Mass Phenotype
Overlap Connective Tissue Disease	Mccune Albright Syndrome
Osteitis Fibrosa Disseminata	OCTD
Albright'S Disease	Pfd
Pofd	Albright'S Syndrome
Mccune-Albright Syndrome, Somatic, Mosaic	Albright'S Disease Of Bone
Albright'S Syndrome With Precocious Puberty	Albright-Mccune-Sternberg Syndrome
Albright-Sternberg Syndrome	Fibrous Dysplasia With Pigmentary Skin Changes And Precocious Puberty
Gonadotropin-Independent Female-Limited Sexual Precocity	Fibrous Dysplasia Polyostotic
Fibrous Dysplasia, Polyostotic

Osteoporosis

Postmenopausal Osteoporosis	Osteoporosis, Postmenopausal
Bone Mineral Density Quantitative Trait Locus	Bmnd
Osteoporosis, Involutional	Osteoporosis, Susceptibility To
Osteoporosis, Postmenopausal, Susceptibility	Bone Mineral Density Variation Qtl, Osteoporosis
OSTEOP	Involutional Osteoporosis
Senile Osteoporosis	Osteoporosis Postmenopausal
Bone Mineral Density, Quantitative Trait Locus	Osteoporosis, Senile
Idiopathic Osteoporosis	Bone Rarefaction Nos
Type 1 Osteoporosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01317	B4GALNT3 Human Pre-designed siRNA Set A		/	Unkown
HY-RS05257	GALNT3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GALNT3	RGD	RGD:1306443
Bos taurus	GALNT3	VGNC	VGNC:29232
Canis familiaris	GALNT3	VGNC	VGNC:41095
Mus musculus	GALNT3	MGD	MGI:894695
Felis catus	GALNT3	VGNC	VGNC:62451
Macaca mulatta	GALNT3	VGNC	VGNC:72873
Others	GALNT3	NCBI

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