GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3) - Rat Genome Database

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Gene: GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3) Homo sapiens
Analyze
Symbol: GALNT3
Name: polypeptide N-acetylgalactosaminyltransferase 3
RGD ID: 1315063
HGNC Page HGNC:4125
Description: Enables calcium ion binding activity; manganese ion binding activity; and polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via serine and protein O-linked glycosylation via threonine. Located in perinuclear region of cytoplasm. Colocalizes with Golgi apparatus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686C10199; GalNAc transferase 3; GalNAc-T3; HFTC; HFTC1; HHS; MGC61909; polypeptide GalNAc transferase 3; polypeptide GalNAc-transferase T3; pp-GaNTase 3; protein-UDP acetylgalactosaminyltransferase 3; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 3; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382165,747,588 - 165,794,692 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2165,747,588 - 165,794,659 (-)EnsemblGRCh38hg38GRCh38
GRCh372166,604,098 - 166,650,757 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362166,312,559 - 166,359,049 (-)NCBINCBI36Build 36hg18NCBI36
Build 342166,428,830 - 166,452,717NCBI
Celera2160,214,267 - 160,260,749 (-)NCBICelera
Cytogenetic Map2q24.3NCBI
HuRef2158,486,232 - 158,532,744 (-)NCBIHuRef
CHM1_12166,610,616 - 166,657,104 (-)NCBICHM1_1
T2T-CHM13v2.02166,204,962 - 166,251,751 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
all-trans-retinoic acid  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
ciguatoxin CTX1B  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
deguelin  (EXP)
diarsenic trioxide  (EXP)
diclofenac  (ISO)
dieldrin  (EXP)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
L-methionine  (ISO)
lidocaine  (ISO)
mercury dibromide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenylmercury acetate  (EXP)
phosgene  (ISO)
picoxystrobin  (EXP)
potassium chromate  (EXP)
pyrimidifen  (EXP)
quercetin  (EXP)
rotenone  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
Triptolide  (ISO)
valproic acid  (EXP)
vitamin E  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8663203   PMID:9295285   PMID:9394011   PMID:9592121   PMID:9884405   PMID:12232759   PMID:12477932   PMID:12506059   PMID:12708471   PMID:14555840   PMID:14735190   PMID:15041730  
PMID:15133511   PMID:15489334   PMID:15860931   PMID:16344560   PMID:16638743   PMID:16940445   PMID:17129170   PMID:17351710   PMID:17361208   PMID:17853462   PMID:18029348   PMID:18570454  
PMID:18618993   PMID:18976705   PMID:19411468   PMID:19830424   PMID:20358599   PMID:21347749   PMID:21533022   PMID:21625220   PMID:21873635   PMID:22504420   PMID:23659732   PMID:23799843  
PMID:24038392   PMID:24045674   PMID:24431446   PMID:24504219   PMID:24945404   PMID:25249269   PMID:25416956   PMID:25630622   PMID:25814554   PMID:26296622   PMID:26637460   PMID:27095597  
PMID:27187683   PMID:27738109   PMID:28453302   PMID:28514442   PMID:28672761   PMID:29093022   PMID:29389098   PMID:29509190   PMID:29516288   PMID:29894293   PMID:30004557   PMID:30015621  
PMID:30262754   PMID:30466404   PMID:30547804   PMID:30833792   PMID:30917321   PMID:31071912   PMID:31182584   PMID:31527615   PMID:31932717   PMID:32125652   PMID:32513696   PMID:32776306  
PMID:33052627   PMID:33961781   PMID:34520102   PMID:35414641  


Genomics

Comparative Map Data
GALNT3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382165,747,588 - 165,794,692 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2165,747,588 - 165,794,659 (-)EnsemblGRCh38hg38GRCh38
GRCh372166,604,098 - 166,650,757 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362166,312,559 - 166,359,049 (-)NCBINCBI36Build 36hg18NCBI36
Build 342166,428,830 - 166,452,717NCBI
Celera2160,214,267 - 160,260,749 (-)NCBICelera
Cytogenetic Map2q24.3NCBI
HuRef2158,486,232 - 158,532,744 (-)NCBIHuRef
CHM1_12166,610,616 - 166,657,104 (-)NCBICHM1_1
T2T-CHM13v2.02166,204,962 - 166,251,751 (-)NCBIT2T-CHM13v2.0
Galnt3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39265,913,110 - 65,955,217 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl265,913,110 - 65,955,338 (-)EnsemblGRCm39 Ensembl
GRCm38266,082,766 - 66,125,056 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl266,082,766 - 66,124,994 (-)EnsemblGRCm38mm10GRCm38
MGSCv37265,920,823 - 65,962,850 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36265,884,272 - 65,934,377 (-)NCBIMGSCv36mm8
Celera267,762,030 - 67,803,898 (-)NCBICelera
Cytogenetic Map2C1.3NCBI
Galnt3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2350,742,500 - 50,779,266 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl350,742,512 - 50,766,268 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx354,085,866 - 54,109,634 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0362,669,491 - 62,693,259 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0360,445,630 - 60,469,408 (-)NCBIRnor_WKY
Rnor_6.0352,174,469 - 52,212,395 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl352,175,547 - 52,212,412 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0358,806,436 - 58,843,496 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4348,026,128 - 48,049,883 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1347,923,236 - 47,946,144 (-)NCBI
Celera350,332,309 - 50,356,022 (-)NCBICelera
Cytogenetic Map3q21NCBI
Galnt3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554498,379,164 - 8,406,988 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554498,365,951 - 8,406,988 (+)NCBIChiLan1.0ChiLan1.0
GALNT3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B170,492,482 - 170,539,231 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B170,335,216 - 170,539,231 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B53,014,933 - 53,066,330 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
GALNT3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13610,895,366 - 10,990,848 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3610,896,128 - 10,919,000 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3611,040,139 - 11,084,227 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03611,029,831 - 11,074,091 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3611,030,584 - 11,124,756 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13611,111,447 - 11,155,527 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03611,084,131 - 11,128,392 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03611,196,286 - 11,240,452 (-)NCBIUU_Cfam_GSD_1.0
Galnt3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303128,040,946 - 128,145,958 (-)NCBIHiC_Itri_2
SpeTri2.0NW_00493646913,538,349 - 13,576,608 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GALNT3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1572,293,614 - 72,342,435 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11572,276,502 - 72,343,524 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21580,794,975 - 80,818,272 (+)NCBISscrofa10.2Sscrofa10.2susScr3
GALNT3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11051,237,150 - 51,284,301 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1051,236,756 - 51,259,062 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040148,228,855 - 148,279,748 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Galnt3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247873,559,903 - 3,591,615 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247873,557,946 - 3,613,235 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GALNT3
153 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1313
Count of miRNA genes:606
Interacting mature miRNAs:673
Transcripts:ENST00000392701, ENST00000409882, ENST00000412248, ENST00000414977, ENST00000422973, ENST00000431484, ENST00000437849, ENST00000447156, ENST00000463254
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D2S2384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,644,851 - 166,645,103UniSTSGRCh37
Build 362166,353,097 - 166,353,349RGDNCBI36
Celera2160,254,799 - 160,255,051RGD
Cytogenetic Map2q24-q31UniSTS
Cytogenetic Map2q31UniSTS
HuRef2158,526,792 - 158,527,046UniSTS
Marshfield Genetic Map2169.41RGD
Marshfield Genetic Map2169.41UniSTS
Genethon Genetic Map2175.3UniSTS
Whitehead-YAC Contig Map2 UniSTS
SHGC-132864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,637,195 - 166,637,465UniSTSGRCh37
Build 362166,345,441 - 166,345,711RGDNCBI36
Celera2160,247,144 - 160,247,414RGD
Cytogenetic Map2q24-q31UniSTS
HuRef2158,519,137 - 158,519,407UniSTS
TNG Radiation Hybrid Map293999.0UniSTS
D2S1313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,651,319 - 166,651,526UniSTSGRCh37
Build 362166,359,565 - 166,359,772RGDNCBI36
Celera2160,261,265 - 160,261,472RGD
Cytogenetic Map2q24-q31UniSTS
HuRef2158,533,260 - 158,533,467UniSTS
Whitehead-YAC Contig Map2 UniSTS
D6S2748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,644,763 - 166,645,238UniSTSGRCh37
Build 362166,353,009 - 166,353,484RGDNCBI36
Celera2160,254,711 - 160,255,186RGD
Celera634,039,687 - 34,039,971UniSTS
HuRef2158,526,704 - 158,527,181UniSTS
GALNT3__6780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,604,298 - 166,605,084UniSTSGRCh37
Build 362166,312,544 - 166,313,330RGDNCBI36
Celera2160,214,252 - 160,215,038RGD
HuRef2158,486,217 - 158,487,003UniSTS
WI-16907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,643,144 - 166,643,269UniSTSGRCh37
Build 362166,351,390 - 166,351,515RGDNCBI36
Celera2160,253,092 - 160,253,217RGD
Cytogenetic Map2q24-q31UniSTS
HuRef2158,525,085 - 158,525,210UniSTS
GeneMap99-GB4 RH Map2544.58UniSTS
Whitehead-RH Map2902.0UniSTS
A004M14  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,604,443 - 166,604,566UniSTSGRCh37
Build 362166,312,689 - 166,312,812RGDNCBI36
Celera2160,214,397 - 160,214,520RGD
Cytogenetic Map2q24-q31UniSTS
HuRef2158,486,362 - 158,486,485UniSTS
GeneMap99-GB4 RH Map2544.69UniSTS
SHGC-53704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372166,637,290 - 166,637,462UniSTSGRCh37
Build 362166,345,536 - 166,345,708RGDNCBI36
Celera2160,247,239 - 160,247,411RGD
Cytogenetic Map2q24-q31UniSTS
HuRef2158,519,232 - 158,519,404UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 769 206 792 178 607 23 556 13 173 90 791 1050 167 170 3
Low 1441 1796 826 346 1226 342 2887 845 2751 300 629 518 4 1155 1730 1 1
Below cutoff 222 980 102 95 101 96 905 1323 789 26 30 37 2 1 49 882 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002959253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ505954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU567493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX094158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB098143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB727693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X92689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y10345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000392701   ⟹   ENSP00000376465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,747,588 - 165,794,247 (-)Ensembl
RefSeq Acc Id: ENST00000409882   ⟹   ENSP00000386955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,747,803 - 165,761,907 (-)Ensembl
RefSeq Acc Id: ENST00000412248   ⟹   ENSP00000412643
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,757,047 - 165,794,659 (-)Ensembl
RefSeq Acc Id: ENST00000414977   ⟹   ENSP00000413477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,770,529 - 165,793,879 (-)Ensembl
RefSeq Acc Id: ENST00000422973   ⟹   ENSP00000413694
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,770,625 - 165,794,247 (-)Ensembl
RefSeq Acc Id: ENST00000431484   ⟹   ENSP00000397112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,770,431 - 165,794,650 (-)Ensembl
RefSeq Acc Id: ENST00000437849   ⟹   ENSP00000391104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,757,068 - 165,764,959 (-)Ensembl
RefSeq Acc Id: ENST00000447156   ⟹   ENSP00000399880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,770,666 - 165,771,691 (-)Ensembl
RefSeq Acc Id: ENST00000463254
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2165,758,618 - 165,762,025 (-)Ensembl
RefSeq Acc Id: NM_004482   ⟹   NP_004473
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,747,588 - 165,794,247 (-)NCBI
GRCh372166,604,313 - 166,650,803 (-)ENTREZGENE
GRCh372166,604,313 - 166,650,803 (-)NCBI
Build 362166,312,559 - 166,359,049 (-)NCBI Archive
HuRef2158,486,232 - 158,532,744 (-)ENTREZGENE
CHM1_12166,610,616 - 166,657,104 (-)NCBI
T2T-CHM13v2.02166,204,962 - 166,251,751 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246449   ⟹   XP_005246506
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,747,588 - 165,771,692 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510929   ⟹   XP_011509231
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,747,588 - 165,794,692 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003770   ⟹   XP_016859259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,747,588 - 165,794,692 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047443883   ⟹   XP_047299839
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,757,047 - 165,794,247 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_004473   ⟸   NM_004482
- UniProtKB: Q7Z476 (UniProtKB/Swiss-Prot),   Q14435 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246506   ⟸   XM_005246449
- Peptide Label: isoform X1
- UniProtKB: Q7Z476 (UniProtKB/Swiss-Prot),   Q14435 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509231   ⟸   XM_011510929
- Peptide Label: isoform X1
- UniProtKB: Q7Z476 (UniProtKB/Swiss-Prot),   Q14435 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016859259   ⟸   XM_017003770
- Peptide Label: isoform X1
- UniProtKB: Q7Z476 (UniProtKB/Swiss-Prot),   Q14435 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000391104   ⟸   ENST00000437849
RefSeq Acc Id: ENSP00000412643   ⟸   ENST00000412248
RefSeq Acc Id: ENSP00000413477   ⟸   ENST00000414977
RefSeq Acc Id: ENSP00000376465   ⟸   ENST00000392701
RefSeq Acc Id: ENSP00000397112   ⟸   ENST00000431484
RefSeq Acc Id: ENSP00000399880   ⟸   ENST00000447156
RefSeq Acc Id: ENSP00000386955   ⟸   ENST00000409882
RefSeq Acc Id: ENSP00000413694   ⟸   ENST00000422973
RefSeq Acc Id: XP_047299839   ⟸   XM_047443883
- Peptide Label: isoform X2
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14435-F1-model_v2 AlphaFold Q14435 1-633 view protein structure

Promoters
RGD ID:6861928
Promoter ID:EPDNEW_H4125
Type:initiation region
Name:GALNT3_2
Description:polypeptide N-acetylgalactosaminyltransferase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4126  EPDNEW_H4127  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,794,202 - 165,794,262EPDNEW
RGD ID:6861922
Promoter ID:EPDNEW_H4126
Type:initiation region
Name:GALNT3_1
Description:polypeptide N-acetylgalactosaminyltransferase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4127  EPDNEW_H4125  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382165,794,689 - 165,794,749EPDNEW
RGD ID:6797522
Promoter ID:HG_KWN:35712
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000255205,   OTTHUMT00000333593,   OTTHUMT00000333595,   OTTHUMT00000333596,   OTTHUMT00000333597,   OTTHUMT00000333598,   UC002UDI.2,   UC010FPI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362166,358,181 - 166,359,512 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004482.4(GALNT3):c.1524+1G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008234] Chr2:165754931 [GRCh38]
Chr2:166611441 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.484C>T (p.Arg162Ter) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008235]|not provided [RCV000807812] Chr2:165770217 [GRCh38]
Chr2:166626727 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.1524+5G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008236] Chr2:165754927 [GRCh38]
Chr2:166611437 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.516-2A>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008237]|not provided [RCV000520800] Chr2:165765058 [GRCh38]
Chr2:166621568 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.1774C>T (p.Gln592Ter) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008238] Chr2:165749747 [GRCh38]
Chr2:166606257 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.1076C>A (p.Thr359Lys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008239] Chr2:165758862 [GRCh38]
Chr2:166615372 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.966T>G (p.Tyr322Ter) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008240] Chr2:165759443 [GRCh38]
Chr2:166615953 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.1441C>T (p.Gln481Ter) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008241] Chr2:165755015 [GRCh38]
Chr2:166611525 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.815C>A (p.Thr272Lys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008242] Chr2:165761928 [GRCh38]
Chr2:166618438 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.803dup (p.Thr269fs) duplication Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008243] Chr2:165761939..165761940 [GRCh38]
Chr2:166618449..166618450 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.1626+1G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008244] Chr2:165754626 [GRCh38]
Chr2:166611136 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.677del (p.Ala226fs) deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008245] Chr2:165764895 [GRCh38]
Chr2:166621405 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.1720T>G (p.Cys574Gly) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000008246] Chr2:165749801 [GRCh38]
Chr2:166606311 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.3(GALNT3):c.1626+1231A>T single nucleotide variant Lung cancer [RCV000091634] Chr2:165753396 [GRCh38]
Chr2:166609906 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 copy number loss See cases [RCV000051003] Chr2:158382388..166605758 [GRCh38]
Chr2:159238900..167462268 [GRCh37]
Chr2:158947146..167170514 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3 copy number gain See cases [RCV000052698] Chr2:165542962..166152073 [GRCh38]
Chr2:166399472..167008583 [GRCh37]
Chr2:166107718..166716829 [NCBI36]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 copy number gain See cases [RCV000052950] Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3
pathogenic
GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 copy number loss See cases [RCV000054119] Chr2:163455290..166962322 [GRCh38]
Chr2:164311800..167818832 [GRCh37]
Chr2:164020046..167527078 [NCBI36]
Chr2:2q24.3
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|See cases [RCV000054124] Chr2:165209651..169567892 [GRCh38]
Chr2:166066161..170424402 [GRCh37]
Chr2:165774407..170132648 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
NM_004482.4(GALNT3):c.132A>G (p.Gln44=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000325066]|not provided [RCV000960500]|not specified [RCV000175784] Chr2:165770569 [GRCh38]
Chr2:166627079 [GRCh37]
Chr2:2q24.3
benign|likely benign|uncertain significance
NC_000002.11:g.(?_165946640)_(167168286_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001308306]|Hereditary sensory and autonomic neuropathy type IIA [RCV001324549]|not provided [RCV001300704] Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 copy number gain See cases [RCV000133953] Chr2:164920562..167536439 [GRCh38]
Chr2:165777072..168392949 [GRCh37]
Chr2:165485318..168101195 [NCBI36]
Chr2:2q24.3
pathogenic
GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3 copy number gain See cases [RCV000135461] Chr2:165542113..166137050 [GRCh38]
Chr2:166398623..166993560 [GRCh37]
Chr2:166106869..166701806 [NCBI36]
Chr2:2q24.3
uncertain significance
GRCh38/hg38 2q24.3(chr2:164941760-165764726)x3 copy number gain See cases [RCV000142015] Chr2:164941760..165764726 [GRCh38]
Chr2:165798270..166621236 [GRCh37]
Chr2:165506516..166329482 [NCBI36]
Chr2:2q24.3
likely pathogenic
GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1 copy number loss See cases [RCV000141780] Chr2:165238425..166114982 [GRCh38]
Chr2:166094935..166971492 [GRCh37]
Chr2:165803181..166679738 [NCBI36]
Chr2:2q24.3
pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1 copy number loss See cases [RCV000143388] Chr2:165222998..166664612 [GRCh38]
Chr2:166079508..167521122 [GRCh37]
Chr2:165787754..167229368 [NCBI36]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.733A>G (p.Ile245Val) single nucleotide variant not provided [RCV000178216] Chr2:165762010 [GRCh38]
Chr2:166618520 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.591G>A (p.Ala197=) single nucleotide variant not provided [RCV000177207] Chr2:165764981 [GRCh38]
Chr2:166621491 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000391156]|not provided [RCV001859968] Chr2:165759558 [GRCh38]
Chr2:166616068 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.507A>G (p.Arg169=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000302717]|not provided [RCV000973903] Chr2:165770194 [GRCh38]
Chr2:166626704 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_004482.4(GALNT3):c.718G>C (p.Val240Leu) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000304335] Chr2:165762025 [GRCh38]
Chr2:166618535 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.549C>A (p.Pro183=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000263976] Chr2:165765023 [GRCh38]
Chr2:166621533 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000272316]|not provided [RCV001850779] Chr2:165770208 [GRCh38]
Chr2:166626718 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.504T>C (p.Thr168=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000364534]|not provided [RCV001515180] Chr2:165770197 [GRCh38]
Chr2:166626707 [GRCh37]
Chr2:2q24.3
benign|likely benign|uncertain significance
NM_004482.4(GALNT3):c.669G>A (p.Val223=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000361417]|not provided [RCV000958588] Chr2:165764903 [GRCh38]
Chr2:166621413 [GRCh37]
Chr2:2q24.3
benign|likely benign
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
GRCh37/hg19 2q24.3(chr2:166094617-166931348)x3 copy number gain See cases [RCV000240508] Chr2:166094617..166931348 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.-295T>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000281244] Chr2:165794201 [GRCh38]
Chr2:166650711 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_004482.4(GALNT3):c.-246A>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000333393] Chr2:165794152 [GRCh38]
Chr2:166650662 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*27G>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000300672] Chr2:165748754 [GRCh38]
Chr2:166605264 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*515G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000289202] Chr2:165748266 [GRCh38]
Chr2:166604776 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_004482.4(GALNT3):c.*783A>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000381353] Chr2:165747998 [GRCh38]
Chr2:166604508 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_004482.4(GALNT3):c.-252C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000387281] Chr2:165794158 [GRCh38]
Chr2:166650668 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*143G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000391143] Chr2:165748638 [GRCh38]
Chr2:166605148 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*870A>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000329182] Chr2:165747911 [GRCh38]
Chr2:166604421 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*281T>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000349890]|not provided [RCV001683330] Chr2:165748500 [GRCh38]
Chr2:166605010 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.51T>C (p.His17=) single nucleotide variant not provided [RCV000310033] Chr2:165770650 [GRCh38]
Chr2:166627160 [GRCh37]
Chr2:2q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_004482.4(GALNT3):c.1694C>T (p.Ala565Val) single nucleotide variant not provided [RCV000316331] Chr2:165749827 [GRCh38]
Chr2:166606337 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.-238C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000276043] Chr2:165794144 [GRCh38]
Chr2:166650654 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*934dup duplication Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome [RCV000378055] Chr2:165747846..165747847 [GRCh38]
Chr2:166604356..166604357 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.3(GALNT3):c.-367_-363delTCGCC deletion Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome [RCV000279836] Chr2:165794269..165794273 [GRCh38]
Chr2:166650779..166650783 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1 copy number loss not provided [RCV000585557] Chr2:165173620..169779326 [GRCh37]
Chr2:2q24.3-31.1
likely pathogenic
NM_004482.4(GALNT3):c.892del (p.Tyr298fs) deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV002272298]|not provided [RCV000597952] Chr2:165759517 [GRCh38]
Chr2:166616027 [GRCh37]
Chr2:2q24.3
pathogenic|likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004482.4(GALNT3):c.-227C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000382038] Chr2:165794133 [GRCh38]
Chr2:166650643 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*318T>G single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000292587] Chr2:165748463 [GRCh38]
Chr2:166604973 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1451A>C (p.Asn484Thr) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000334831] Chr2:165755005 [GRCh38]
Chr2:166611515 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*308TA[7] microsatellite Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome [RCV000351267] Chr2:165748461..165748462 [GRCh38]
Chr2:166604971..166604972 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*937C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000321094] Chr2:165747844 [GRCh38]
Chr2:166604354 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.-309G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000338514] Chr2:165794215 [GRCh38]
Chr2:166650725 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.3(GALNT3):c.-358C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000372201] Chr2:165794264 [GRCh38]
Chr2:166650774 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*897T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000290522] Chr2:165747884 [GRCh38]
Chr2:166604394 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*319A>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000398302] Chr2:165748462 [GRCh38]
Chr2:166604972 [GRCh37]
Chr2:2q24.3
uncertain significance
Single allele deletion not provided [RCV000768457] Chr2:162485583..168295583 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
NM_004482.4(GALNT3):c.681T>G (p.Ser227Arg) single nucleotide variant not provided [RCV000722768] Chr2:165764891 [GRCh38]
Chr2:166621401 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1820C>T (p.Ser607Leu) single nucleotide variant not provided [RCV000733030] Chr2:165748863 [GRCh38]
Chr2:166605373 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_004482.4(GALNT3):c.1348A>G (p.Ile450Val) single nucleotide variant not provided [RCV000733929] Chr2:165757091 [GRCh38]
Chr2:166613601 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1392+7T>G single nucleotide variant not provided [RCV000733941] Chr2:165757040 [GRCh38]
Chr2:166613550 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)x3 copy number gain See cases [RCV000447420] Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1 copy number loss See cases [RCV000511973] Chr2:166374955..169671203 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1 copy number loss See cases [RCV000511424] Chr2:164366067..169069454 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q24.3(chr2:166032047-168283204)x1 copy number loss See cases [RCV000511103] Chr2:166032047..168283204 [GRCh37]
Chr2:2q24.3
pathogenic
NC_000002.12:g.(?_165090130)_(166228992_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000636624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387895] Chr2:165090130..166228992 [GRCh38]
Chr2:165946640..167085502 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3
drug response
GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 copy number loss See cases [RCV000512264] Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3
pathogenic
GRCh37/hg19 2q24.3(chr2:166221754-166646820)x1 copy number loss not provided [RCV000512658] Chr2:166221754..166646820 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_004482.4(GALNT3):c.505C>T (p.Arg169Ter) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000679991]|not provided [RCV001225042] Chr2:165770196 [GRCh38]
Chr2:166626706 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q24.3(chr2:166433431-166612343)x1 copy number loss not provided [RCV000682025] Chr2:166433431..166612343 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:166395880-167016281)x3 copy number gain not provided [RCV000682093] Chr2:166395880..167016281 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
NM_004482.4(GALNT3):c.688+40A>G single nucleotide variant not provided [RCV001643382] Chr2:165764844 [GRCh38]
Chr2:166621354 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.838+287del deletion not provided [RCV001546618] Chr2:165761618 [GRCh38]
Chr2:166618128 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.*806G>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001133559] Chr2:165747975 [GRCh38]
Chr2:166604485 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*28G>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001135047] Chr2:165748753 [GRCh38]
Chr2:166605263 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.12:g.(?_165112865)_(166311776_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001033802]|not provided [RCV001346192] Chr2:165969375..167168286 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_166152314)_(167108415_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV000811357]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001372278] Chr2:165295804..166251905 [GRCh38]
Chr2:166152314..167108415 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.928G>A (p.Asp310Asn) single nucleotide variant not provided [RCV000792338] Chr2:165759481 [GRCh38]
Chr2:166615991 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.293T>G (p.Leu98Trp) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001133693]|not provided [RCV001221670] Chr2:165770408 [GRCh38]
Chr2:166626918 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.-73C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001133694] Chr2:165770773 [GRCh38]
Chr2:166627283 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1342A>G (p.Lys448Glu) single nucleotide variant not provided [RCV000808503] Chr2:165757097 [GRCh38]
Chr2:166613607 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1705G>A (p.Val569Ile) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130022]|not provided [RCV000964167] Chr2:165749816 [GRCh38]
Chr2:166606326 [GRCh37]
Chr2:2q24.3
benign
Single allele deletion Epilepsy [RCV000787426] Chr2:166050817..166679227 [GRCh37]
Chr2:2q24.3
pathogenic
NC_000002.12:g.(?_165090130)_(166311776_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000807258] Chr2:165090130..166311776 [GRCh38]
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3
pathogenic
NC_000002.12:g.(?_165090130)_(166286643_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000808624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387894] Chr2:165090130..166286643 [GRCh38]
Chr2:165946640..167143153 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q24.3(chr2:166338194-167854823)x3 copy number gain not provided [RCV001005353] Chr2:166338194..167854823 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1691C>T (p.Ala564Val) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130023] Chr2:165749830 [GRCh38]
Chr2:166606340 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1565A>G (p.Glu522Gly) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130025] Chr2:165754688 [GRCh38]
Chr2:166611198 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.918T>C (p.Ile306=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130027]|not provided [RCV002070517] Chr2:165759491 [GRCh38]
Chr2:166616001 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34
pathogenic
NM_004482.4(GALNT3):c.799G>T (p.Val267Phe) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130736]|not provided [RCV001520225] Chr2:165761944 [GRCh38]
Chr2:166618454 [GRCh37]
Chr2:2q24.3
benign
NC_000002.12:g.(?_165090130)_(166311776_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001032318]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001324549]|Seizures, benign familial infantile, 3 [RCV001365121]|not provided [RCV001300704] Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1524+3G>A single nucleotide variant not provided [RCV001242369] Chr2:165754929 [GRCh38]
Chr2:166611439 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:166643249-166767040)x3 copy number gain not provided [RCV000845619] Chr2:166643249..166767040 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.337C>T (p.Arg113Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001133692] Chr2:165770364 [GRCh38]
Chr2:166626874 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.-191C>A single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001135193] Chr2:165794097 [GRCh38]
Chr2:166650607 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1192-31G>A single nucleotide variant not provided [RCV001566916] Chr2:165757278 [GRCh38]
Chr2:166613788 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1626+232_1626+234del deletion not provided [RCV001658690] Chr2:165754393..165754395 [GRCh38]
Chr2:166610903..166610905 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.1626+231_1626+234del deletion not provided [RCV001708933] Chr2:165754393..165754396 [GRCh38]
Chr2:166610903..166610906 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.1626+131G>A single nucleotide variant not provided [RCV001687216] Chr2:165754496 [GRCh38]
Chr2:166611006 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.1393-201G>C single nucleotide variant not provided [RCV001714174] Chr2:165755264 [GRCh38]
Chr2:166611774 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.1626+310G>A single nucleotide variant not provided [RCV001657498] Chr2:165754317 [GRCh38]
Chr2:166610827 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.1626+234del deletion not provided [RCV001563154] Chr2:165754393 [GRCh38]
Chr2:166610903 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1626+230_1626+234del deletion not provided [RCV001571358] Chr2:165754393..165754397 [GRCh38]
Chr2:166610903..166610907 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1074-181G>A single nucleotide variant not provided [RCV001674810] Chr2:165759045 [GRCh38]
Chr2:166615555 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.901G>A (p.Val301Ile) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130734]|not provided [RCV000974933] Chr2:165759508 [GRCh38]
Chr2:166616018 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_004482.4(GALNT3):c.1827T>C (p.Asn609=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001135048]|not provided [RCV000953180] Chr2:165748856 [GRCh38]
Chr2:166605366 [GRCh37]
Chr2:2q24.3
benign|likely benign
NM_004482.4(GALNT3):c.1870C>T (p.Leu624Phe) single nucleotide variant not provided [RCV000887729] Chr2:165748813 [GRCh38]
Chr2:166605323 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1369G>A (p.Asp457Asn) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130026] Chr2:165757070 [GRCh38]
Chr2:166613580 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.*186C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001135046]|not provided [RCV001786440] Chr2:165748595 [GRCh38]
Chr2:166605105 [GRCh37]
Chr2:2q24.3
benign|likely benign
NC_000002.12:g.(?_165090130)_(166204484_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001031030] Chr2:165946640..167060994 [GRCh37]
Chr2:2q24.3
pathogenic
NC_000002.12:g.(?_165295804)_(166311776_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001033512] Chr2:166152314..167168286 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.-109+1733T>G single nucleotide variant not provided [RCV001620252] Chr2:165792282 [GRCh38]
Chr2:166648792 [GRCh37]
Chr2:2q24.3
benign
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3
pathogenic
NM_004482.4(GALNT3):c.1627-215C>T single nucleotide variant not provided [RCV001540604] Chr2:165750109 [GRCh38]
Chr2:166606619 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.1626+51G>A single nucleotide variant not provided [RCV001660870] Chr2:165754576 [GRCh38]
Chr2:166611086 [GRCh37]
Chr2:2q24.3
benign
GRCh37/hg19 2q24.3(chr2:166610320-167356086)x1 copy number loss not provided [RCV001005354] Chr2:166610320..167356086 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.1626+164del deletion not provided [RCV001650433] Chr2:165754463 [GRCh38]
Chr2:166610973 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.1626+233_1626+234del deletion not provided [RCV001613662] Chr2:165754393..165754394 [GRCh38]
Chr2:166610903..166610904 [GRCh37]
Chr2:2q24.3
benign
GRCh37/hg19 2q24.3(chr2:166340583-166904859) copy number loss Microcephaly [RCV001252946] Chr2:166340583..166904859 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.1626+6C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130024]|not provided [RCV001856690] Chr2:165754621 [GRCh38]
Chr2:166611131 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.515+90C>T single nucleotide variant not provided [RCV001610974] Chr2:165770096 [GRCh38]
Chr2:166626606 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.689-260C>T single nucleotide variant not provided [RCV001663062] Chr2:165762314 [GRCh38]
Chr2:166618824 [GRCh37]
Chr2:2q24.3
benign
NC_000002.12:g.165794252C>T single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130154] Chr2:165794252 [GRCh38]
Chr2:166650762 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.600G>A (p.Thr200=) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130737]|not provided [RCV002070524] Chr2:165764972 [GRCh38]
Chr2:166621482 [GRCh37]
Chr2:2q24.3
likely benign|uncertain significance
NM_004482.4(GALNT3):c.782G>A (p.Arg261Gln) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001200048] Chr2:165761961 [GRCh38]
Chr2:166618471 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.407A>G (p.Glu136Gly) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001133691]|not provided [RCV001509937] Chr2:165770294 [GRCh38]
Chr2:166626804 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.838+10T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130735] Chr2:165761895 [GRCh38]
Chr2:166618405 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.-138T>C single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001135192] Chr2:165794044 [GRCh38]
Chr2:166650554 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1724C>T (p.Thr575Ile) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001130021] Chr2:165749797 [GRCh38]
Chr2:166606307 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.688+158C>T single nucleotide variant not provided [RCV001641859] Chr2:165764726 [GRCh38]
Chr2:166621236 [GRCh37]
Chr2:2q24.3
benign
GRCh37/hg19 2q24.3(chr2:166471756-166750528)x1 copy number loss not provided [RCV001258561] Chr2:166471756..166750528 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1191+143A>T single nucleotide variant not provided [RCV001813892] Chr2:165758604 [GRCh38]
Chr2:166615114 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1534G>A (p.Val512Ile) single nucleotide variant not provided [RCV001359040] Chr2:165754719 [GRCh38]
Chr2:166611229 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1208G>A (p.Gly403Glu) single nucleotide variant not provided [RCV001321476] Chr2:165757231 [GRCh38]
Chr2:166613741 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_165946660)_(167168266_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001390921]|Jeune thoracic dystrophy [RCV001871956]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387893]|Seizures, benign familial infantile, 3 [RCV001381177]|not provided [RCV001362895] Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3
pathogenic|uncertain significance
NM_004482.4(GALNT3):c.305A>G (p.Tyr102Cys) single nucleotide variant not provided [RCV001316762] Chr2:165770396 [GRCh38]
Chr2:166626906 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.244A>G (p.Ile82Val) single nucleotide variant not provided [RCV001314087] Chr2:165770457 [GRCh38]
Chr2:166626967 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.147A>C (p.Glu49Asp) single nucleotide variant not provided [RCV001345464] Chr2:165770554 [GRCh38]
Chr2:166627064 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln) single nucleotide variant not provided [RCV001311938] Chr2:165770216 [GRCh38]
Chr2:166626726 [GRCh37]
Chr2:2q24.3
likely pathogenic
GRCh37/hg19 2q24.3(chr2:165903672-166666206) copy number gain Corpus callosum, agenesis of [RCV001291959] Chr2:165903672..166666206 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.904_910del (p.Val302fs) deletion not provided [RCV001388458] Chr2:165759499..165759505 [GRCh38]
Chr2:166616009..166616015 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.459C>T (p.Phe153=) single nucleotide variant not provided [RCV001449230] Chr2:165770242 [GRCh38]
Chr2:166626752 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.516-5_516-3del microsatellite not provided [RCV001401462] Chr2:165765059..165765061 [GRCh38]
Chr2:166621569..166621571 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.838+153G>A single nucleotide variant not provided [RCV001535114] Chr2:165761752 [GRCh38]
Chr2:166618262 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.426A>G (p.Glu142=) single nucleotide variant not provided [RCV001411348] Chr2:165770275 [GRCh38]
Chr2:166626785 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV001536110]|not provided [RCV001873803] Chr2:165770685 [GRCh38]
Chr2:166627195 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.838+276dup duplication not provided [RCV001693289] Chr2:165761617..165761618 [GRCh38]
Chr2:166618127..166618128 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.189G>A (p.Leu63=) single nucleotide variant not provided [RCV001504532] Chr2:165770512 [GRCh38]
Chr2:166627022 [GRCh37]
Chr2:2q24.3
likely benign
NC_000002.11:g.(?_166605291)_(167168266_?)del deletion not provided [RCV001388756] Chr2:166605291..167168266 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.379G>T (p.Ala127Ser) single nucleotide variant not provided [RCV001457355] Chr2:165770322 [GRCh38]
Chr2:166626832 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.897G>T (p.Thr299=) single nucleotide variant not provided [RCV001516043] Chr2:165759512 [GRCh38]
Chr2:166616022 [GRCh37]
Chr2:2q24.3
benign
NM_004482.4(GALNT3):c.686A>T (p.Asp229Val) single nucleotide variant not provided [RCV001799825] Chr2:165764886 [GRCh38]
Chr2:166621396 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1 copy number loss Severe myoclonic epilepsy in infancy [RCV001801211] Chr2:166152284..167760450 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.688+206A>C single nucleotide variant not provided [RCV001779763] Chr2:165764678 [GRCh38]
Chr2:166621188 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1392+128A>G single nucleotide variant not provided [RCV001779900] Chr2:165756919 [GRCh38]
Chr2:166613429 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1780-29_1780-28insA insertion not provided [RCV001779699] Chr2:165748931..165748932 [GRCh38]
Chr2:166605441..166605442 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.590C>T (p.Ala197Val) single nucleotide variant not provided [RCV001874474] Chr2:165764982 [GRCh38]
Chr2:166621492 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296) copy number gain not specified [RCV002053259] Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
NM_004482.4(GALNT3):c.574G>T (p.Val192Phe) single nucleotide variant not provided [RCV001985360] Chr2:165764998 [GRCh38]
Chr2:166621508 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1334A>G (p.Asp445Gly) single nucleotide variant not provided [RCV002045109] Chr2:165757105 [GRCh38]
Chr2:166613615 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.716A>C (p.Tyr239Ser) single nucleotide variant not provided [RCV002021458] Chr2:165762027 [GRCh38]
Chr2:166618537 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_166615961)_(166625588_?)del deletion not provided [RCV002045752] Chr2:166615961..166625588 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_004482.4(GALNT3):c.1846G>T (p.Val616Leu) single nucleotide variant not provided [RCV001950434] Chr2:165748837 [GRCh38]
Chr2:166605347 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.3(chr2:165428510-166888012) copy number loss not specified [RCV002053261] Chr2:165428510..166888012 [GRCh37]
Chr2:2q24.3
pathogenic
GRCh37/hg19 2q24.3(chr2:165794558-166633875) copy number gain not specified [RCV002053262] Chr2:165794558..166633875 [GRCh37]
Chr2:2q24.3
pathogenic
NM_004482.4(GALNT3):c.1779+1G>C single nucleotide variant not provided [RCV001847403] Chr2:165749741 [GRCh38]
Chr2:166606251 [GRCh37]
Chr2:2q24.3
likely pathogenic
NM_004482.4(GALNT3):c.272A>G (p.Asp91Gly) single nucleotide variant not provided [RCV001893097] Chr2:165770429 [GRCh38]
Chr2:166626939 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.599C>T (p.Thr200Met) single nucleotide variant not provided [RCV002023564] Chr2:165764973 [GRCh38]
Chr2:166621483 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.166A>T (p.Met56Leu) single nucleotide variant not provided [RCV002001933] Chr2:165770535 [GRCh38]
Chr2:166627045 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.692A>G (p.Tyr231Cys) single nucleotide variant not provided [RCV001964875] Chr2:165762051 [GRCh38]
Chr2:166618561 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1253G>A (p.Arg418His) single nucleotide variant not provided [RCV001967997] Chr2:165757186 [GRCh38]
Chr2:166613696 [GRCh37]
Chr2:2q24.3
uncertain significance
GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790) copy number loss not specified [RCV002053257] Chr2:161551326..167762790 [GRCh37]
Chr2:2q24.2-24.3
pathogenic
NM_004482.4(GALNT3):c.1828G>A (p.Gly610Arg) single nucleotide variant not provided [RCV002039997] Chr2:165748855 [GRCh38]
Chr2:166605365 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1183T>C (p.Ser395Pro) single nucleotide variant not provided [RCV001887268] Chr2:165758755 [GRCh38]
Chr2:166615265 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1627-3T>C single nucleotide variant not provided [RCV002038258] Chr2:165749897 [GRCh38]
Chr2:166606407 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.401G>A (p.Ser134Asn) single nucleotide variant not provided [RCV001975984] Chr2:165770300 [GRCh38]
Chr2:166626810 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.35T>A (p.Ile12Asn) single nucleotide variant not provided [RCV001951848] Chr2:165770666 [GRCh38]
Chr2:166627176 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1436G>A (p.Arg479His) single nucleotide variant not provided [RCV002046156] Chr2:165755020 [GRCh38]
Chr2:166611530 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1610G>A (p.Gly537Glu) single nucleotide variant not provided [RCV002012351] Chr2:165754643 [GRCh38]
Chr2:166611153 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_165946660)_(166898954_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001916374]|not provided [RCV001940049] Chr2:165946660..166898954 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.538C>T (p.Arg180Cys) single nucleotide variant not provided [RCV001867123] Chr2:165765034 [GRCh38]
Chr2:166621544 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.985G>A (p.Gly329Arg) single nucleotide variant not provided [RCV001931074] Chr2:165759424 [GRCh38]
Chr2:166615934 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.502A>T (p.Thr168Ser) single nucleotide variant not provided [RCV001956780] Chr2:165770199 [GRCh38]
Chr2:166626709 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1675G>C (p.Glu559Gln) single nucleotide variant not provided [RCV001886316] Chr2:165749846 [GRCh38]
Chr2:166606356 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.671A>G (p.Asp224Gly) single nucleotide variant not provided [RCV001936360] Chr2:165764901 [GRCh38]
Chr2:166621411 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1517C>A (p.Ser506Tyr) single nucleotide variant not provided [RCV001897131] Chr2:165754939 [GRCh38]
Chr2:166611449 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.338G>A (p.Arg113His) single nucleotide variant not provided [RCV001930338] Chr2:165770363 [GRCh38]
Chr2:166626873 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1424A>G (p.Glu475Gly) single nucleotide variant not provided [RCV001881745] Chr2:165755032 [GRCh38]
Chr2:166611542 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.511C>T (p.Pro171Ser) single nucleotide variant not provided [RCV001940006] Chr2:165770190 [GRCh38]
Chr2:166626700 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.314C>T (p.Ala105Val) single nucleotide variant not provided [RCV001994337] Chr2:165770387 [GRCh38]
Chr2:166626897 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_166210682)_(167168266_?)del deletion Seizures, benign familial infantile, 3 [RCV001958879] Chr2:166210682..167168266 [GRCh37]
Chr2:2q24.3
pathogenic
NC_000002.11:g.(?_165946660)_(167168266_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV001940047] Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1312C>T (p.Arg438Cys) single nucleotide variant Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV002272527]|not provided [RCV001925451] Chr2:165757127 [GRCh38]
Chr2:166613637 [GRCh37]
Chr2:2q24.3
pathogenic|uncertain significance
NM_004482.4(GALNT3):c.1018G>A (p.Glu340Lys) single nucleotide variant not provided [RCV001938193] Chr2:165759391 [GRCh38]
Chr2:166615901 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.667G>A (p.Val223Met) single nucleotide variant not provided [RCV001981759] Chr2:165764905 [GRCh38]
Chr2:166621415 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.1435C>T (p.Arg479Cys) single nucleotide variant not provided [RCV001884370] Chr2:165755021 [GRCh38]
Chr2:166611531 [GRCh37]
Chr2:2q24.3
uncertain significance
NC_000002.11:g.(?_166605291)_(167163604_?)dup duplication Jeune thoracic dystrophy [RCV001992945] Chr2:166605291..167163604 [GRCh37]
Chr2:2q24.3
uncertain significance
NM_004482.4(GALNT3):c.838+12T>C single nucleotide variant not provided [RCV002146565] Chr2:165761893 [GRCh38]
Chr2:166618403 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1546C>T (p.Leu516=) single nucleotide variant not provided [RCV002206032] Chr2:165754707 [GRCh38]
Chr2:166611217 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1393-20C>A single nucleotide variant not provided [RCV002128858] Chr2:165755083 [GRCh38]
Chr2:166611593 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1392+16G>A single nucleotide variant not provided [RCV002169560] Chr2:165757031 [GRCh38]
Chr2:166613541 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.774C>A (p.Ile258=) single nucleotide variant not provided [RCV002089690] Chr2:165761969 [GRCh38]
Chr2:166618479 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1525-19C>T single nucleotide variant not provided [RCV002085221] Chr2:165754747 [GRCh38]
Chr2:166611257 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1780-4C>T single nucleotide variant not provided [RCV002193380] Chr2:165748907 [GRCh38]
Chr2:166605417 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1821A>C (p.Ser607=) single nucleotide variant not provided [RCV002131707] Chr2:165748862 [GRCh38]
Chr2:166605372 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1524+15G>C single nucleotide variant not provided [RCV002131912] Chr2:165754917 [GRCh38]
Chr2:166611427 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1428A>C (p.Ile476=) single nucleotide variant not provided [RCV002205320] Chr2:165755028 [GRCh38]
Chr2:166611538 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.966T>C (p.Tyr322=) single nucleotide variant not provided [RCV002138750] Chr2:165759443 [GRCh38]
Chr2:166615953 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1341C>T (p.Tyr447=) single nucleotide variant not provided [RCV002081690] Chr2:165757098 [GRCh38]
Chr2:166613608 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1689T>C (p.His563=) single nucleotide variant not provided [RCV002142193] Chr2:165749832 [GRCh38]
Chr2:166606342 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.750A>G (p.Arg250=) single nucleotide variant not provided [RCV002159483] Chr2:165761993 [GRCh38]
Chr2:166618503 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1269T>C (p.His423=) single nucleotide variant not provided [RCV002101305] Chr2:165757170 [GRCh38]
Chr2:166613680 [GRCh37]
Chr2:2q24.3
likely benign
NM_004482.4(GALNT3):c.1194A>G (p.Val398=) single nucleotide variant not provided [RCV002104210] Chr2:165757245 [GRCh38]
Chr2:166613755 [GRCh37]
Chr2:2q24.3
likely benign
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1 copy number loss 2q24 microdeletion syndrome [RCV002271993] Chr2:160347642..174075851 [GRCh37]
Chr2:2q24.2-31.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4125 AgrOrtholog
COSMIC GALNT3 COSMIC
Ensembl Genes ENSG00000115339 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000376465 ENTREZGENE
  ENSP00000376465.3 UniProtKB/Swiss-Prot
  ENSP00000386955.1 UniProtKB/TrEMBL
  ENSP00000391104.1 UniProtKB/TrEMBL
  ENSP00000397112.1 UniProtKB/TrEMBL
  ENSP00000399880.1 UniProtKB/TrEMBL
  ENSP00000412643 ENTREZGENE
  ENSP00000412643.1 UniProtKB/TrEMBL
  ENSP00000413477.1 UniProtKB/TrEMBL
  ENSP00000413694.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000392701 ENTREZGENE
  ENST00000392701.8 UniProtKB/Swiss-Prot
  ENST00000409882.5 UniProtKB/TrEMBL
  ENST00000412248 ENTREZGENE
  ENST00000412248.5 UniProtKB/TrEMBL
  ENST00000414977.5 UniProtKB/TrEMBL
  ENST00000422973.1 UniProtKB/TrEMBL
  ENST00000431484.1 UniProtKB/TrEMBL
  ENST00000437849.1 UniProtKB/TrEMBL
  ENST00000447156.1 UniProtKB/TrEMBL
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000115339 GTEx
HGNC ID HGNC:4125 ENTREZGENE
Human Proteome Map GALNT3 Human Proteome Map
InterPro Galactosyl_T_C UniProtKB/TrEMBL
  GalNAc-T UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_trans_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ricin_B-like_lectins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ricin_B_lectin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2591 UniProtKB/Swiss-Prot
NCBI Gene 2591 ENTREZGENE
OMIM 211900 OMIM
  601756 OMIM
Pfam Glyco_transf_7C UniProtKB/TrEMBL
  Glycos_transf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ricin_B_lectin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28538 PharmGKB
PROSITE RICIN_B_LECTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RICIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9J2C3_HUMAN UniProtKB/TrEMBL
  C9J388_HUMAN UniProtKB/TrEMBL
  C9JW45_HUMAN UniProtKB/TrEMBL
  C9JXX2_HUMAN UniProtKB/TrEMBL
  C9JY57_HUMAN UniProtKB/TrEMBL
  E7EUL0_HUMAN UniProtKB/TrEMBL
  GALT3_HUMAN UniProtKB/Swiss-Prot
  H7BZS4_HUMAN UniProtKB/TrEMBL
  Q14435 ENTREZGENE
  Q68VJ6_HUMAN UniProtKB/TrEMBL
  Q7Z476 ENTREZGENE
UniProt Secondary Q53TG9 UniProtKB/Swiss-Prot
  Q7Z476 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-04-30 GALNT3  polypeptide N-acetylgalactosaminyltransferase 3    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)  Symbol and/or name change 5135510 APPROVED