GALNT8 (polypeptide N-acetylgalactosaminyltransferase 8) - Rat Genome Database

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Gene: GALNT8 (polypeptide N-acetylgalactosaminyltransferase 8) Homo sapiens
Analyze
Symbol: GALNT8
Name: polypeptide N-acetylgalactosaminyltransferase 8
RGD ID: 1350587
HGNC Page HGNC:4130
Description: Predicted to enable polypeptide N-acetylgalactosaminyltransferase activity. Predicted to be involved in protein O-linked glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ17364; GalNAc transferase 8; GALNAC-T8; polypeptide GalNAc transferase 8; pp-GaNTase 8; probable polypeptide N-acetylgalactosaminyltransferase 8; protein-UDP acetylgalactosaminyltransferase 8; UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase 8; UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 8; UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)
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
GRCh38124,720,400 - 4,772,726 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl124,720,400 - 4,851,927 (+)EnsemblGRCh38hg38GRCh38
GRCh37124,829,566 - 4,881,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,700,013 - 4,752,153 (+)NCBINCBI36Build 36hg18NCBI36
Build 34124,700,012 - 4,752,153NCBI
Celera126,451,758 - 6,503,719 (+)NCBICelera
Cytogenetic Map12p13.32NCBI
HuRef124,686,593 - 4,738,667 (+)NCBIHuRef
CHM1_1124,829,349 - 4,881,469 (+)NCBICHM1_1
T2T-CHM13v2.0124,727,222 - 4,779,711 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
Golgi apparatus  (IBA,IEA)
Golgi membrane  (IEA,TAS)
membrane  (IEA)

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. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10767557   PMID:12438318   PMID:12477932   PMID:20800603   PMID:21873635   PMID:23034592   PMID:24038392   PMID:27705803   PMID:29741668   PMID:32296183   PMID:32707033   PMID:33961781  
PMID:34743989   PMID:35220009  


Genomics

Comparative Map Data
GALNT8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38124,720,400 - 4,772,726 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl124,720,400 - 4,851,927 (+)EnsemblGRCh38hg38GRCh38
GRCh37124,829,566 - 4,881,892 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36124,700,013 - 4,752,153 (+)NCBINCBI36Build 36hg18NCBI36
Build 34124,700,012 - 4,752,153NCBI
Celera126,451,758 - 6,503,719 (+)NCBICelera
Cytogenetic Map12p13.32NCBI
HuRef124,686,593 - 4,738,667 (+)NCBIHuRef
CHM1_1124,829,349 - 4,881,469 (+)NCBICHM1_1
T2T-CHM13v2.0124,727,222 - 4,779,711 (+)NCBIT2T-CHM13v2.0
Gm29788
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396126,769,412 - 126,787,607 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6126,769,412 - 126,787,607 (-)EnsemblGRCm39 Ensembl
GRCm386126,792,449 - 126,810,644 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6126,792,449 - 126,810,644 (-)EnsemblGRCm38mm10GRCm38
Celera6128,465,015 - 128,488,274 (-)NCBICelera
Cytogenetic Map6F3NCBI
Galnt8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84161,307,603 - 161,336,485 (-)NCBIGRCr8
mRatBN7.24159,626,438 - 159,650,327 (-)NCBImRatBN7.2mRatBN7.2
Rnor_6.04159,340,750 - 159,362,350 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Celera4148,344,913 - 148,366,518 (-)NCBICelera
Cytogenetic Map4q42NCBI
Galnt8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554132,510,123 - 2,566,842 (+)NCBIChiLan1.0ChiLan1.0
GALNT8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21010,261,833 - 10,399,454 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11210,258,570 - 10,328,383 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0124,837,719 - 4,894,120 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1124,758,570 - 4,813,253 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl124,758,570 - 4,810,085 (+)Ensemblpanpan1.1panPan2
GALNT8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12740,077,724 - 40,138,592 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha276,543,861 - 6,678,425 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02740,359,000 - 40,493,551 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2740,437,538 - 40,493,491 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12740,248,030 - 40,382,466 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02740,273,137 - 40,407,572 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0275,954,467 - 6,089,147 (+)NCBIUU_Cfam_GSD_1.0
Galnt8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945104,236,843 - 104,300,964 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049366064,883,434 - 4,947,621 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GALNT8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl565,696,868 - 65,735,536 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1565,697,120 - 65,735,521 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2567,903,081 - 67,941,329 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GALNT8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1114,753,079 - 4,819,580 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl114,753,234 - 4,816,693 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660633,430,165 - 3,493,584 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Galnt8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248601,757,201 - 1,806,854 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GALNT8
30 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1 copy number loss See cases [RCV000052777] Chr12:2492728..4829842 [GRCh38]
Chr12:2601894..4939008 [GRCh37]
Chr12:2472155..4809269 [NCBI36]
Chr12:12p13.33-13.32
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_017417.1(GALNT8):c.1076G>A (p.Gly359Asp) single nucleotide variant Malignant melanoma [RCV000062511] Chr12:4746161 [GRCh38]
Chr12:4855327 [GRCh37]
Chr12:4725588 [NCBI36]
Chr12:12p13.32
not provided
GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1 copy number loss See cases [RCV000136848] Chr12:199896..5807366 [GRCh38]
Chr12:309062..5916532 [GRCh37]
Chr12:179323..5786793 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3 copy number gain See cases [RCV000143357] Chr12:418421..6235914 [GRCh38]
Chr12:527587..6345080 [GRCh37]
Chr12:397848..6215341 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1 copy number loss Ductal breast carcinoma [RCV000207062] Chr12:4772521..5854093 [GRCh38]
Chr12:4881687..5963259 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
GRCh37/hg19 12p13.32(chr12:4872405-5347944)x3 copy number gain See cases [RCV000239919] Chr12:4872405..5347944 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6378954)x1 copy number loss See cases [RCV000447106] Chr12:173786..6378954 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5737510)x1 copy number loss See cases [RCV000446628] Chr12:173786..5737510 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1 copy number loss See cases [RCV000511740] Chr12:3256714..4980727 [GRCh37]
Chr12:12p13.33-13.32
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
NM_017417.2(GALNT8):c.1657A>G (p.Ser553Gly) single nucleotide variant Inborn genetic diseases [RCV003271132] Chr12:4765442 [GRCh38]
Chr12:4874608 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1793G>A (p.Arg598Gln) single nucleotide variant Inborn genetic diseases [RCV003241920] Chr12:4772476 [GRCh38]
Chr12:4881642 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.65A>G (p.Asn22Ser) single nucleotide variant Inborn genetic diseases [RCV003252827] Chr12:4720742 [GRCh38]
Chr12:4829908 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1 copy number loss not provided [RCV000683465] Chr12:4305058..6066141 [GRCh37]
Chr12:12p13.32-13.31
likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1 copy number loss not provided [RCV000683474] Chr12:173786..5952112 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1 copy number loss not provided [RCV000683475] Chr12:173786..6039841 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1 copy number loss not provided [RCV000683476] Chr12:173786..6201932 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.32(chr12:4768437-4853806)x3 copy number gain not provided [RCV000737745] Chr12:4768437..4853806 [GRCh37]
Chr12:12p13.32
benign
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_017417.2(GALNT8):c.1142A>G (p.Tyr381Cys) single nucleotide variant not provided [RCV000906014] Chr12:4746227 [GRCh38]
Chr12:4855393 [GRCh37]
Chr12:12p13.32
likely benign
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31
pathogenic|not provided
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.32(chr12:4748656-4856696)x3 copy number gain not provided [RCV000846458] Chr12:4748656..4856696 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1 copy number loss not provided [RCV000847821] Chr12:173786..6346092 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
NM_017417.2(GALNT8):c.700G>A (p.Glu234Lys) single nucleotide variant not provided [RCV000965880] Chr12:4744540 [GRCh38]
Chr12:4853706 [GRCh37]
Chr12:12p13.32
benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_017417.2(GALNT8):c.1741A>G (p.Ile581Val) single nucleotide variant not provided [RCV000890017] Chr12:4765526 [GRCh38]
Chr12:4874692 [GRCh37]
Chr12:12p13.32
benign
NM_017417.2(GALNT8):c.1594-3T>A single nucleotide variant not provided [RCV000890985] Chr12:4765376 [GRCh38]
Chr12:4874542 [GRCh37]
Chr12:12p13.32
benign
NM_017417.2(GALNT8):c.1831G>A (p.Val611Met) single nucleotide variant not provided [RCV000957045] Chr12:4772514 [GRCh38]
Chr12:4881680 [GRCh37]
Chr12:12p13.32
benign
NM_017417.2(GALNT8):c.1542C>T (p.Pro514=) single nucleotide variant not provided [RCV000957044] Chr12:4763996 [GRCh38]
Chr12:4873162 [GRCh37]
Chr12:12p13.32
benign
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.32(chr12:3619010-5221363) copy number loss Global developmental delay [RCV001352670] Chr12:3619010..5221363 [GRCh37]
Chr12:12p13.32
pathogenic
NC_000012.11:g.(?_4479509)_(6235003_?)dup duplication Episodic ataxia type 1 [RCV001294847] Chr12:4479509..6235003 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700) copy number loss not specified [RCV002052963] Chr12:2790077..5325700 [GRCh37]
Chr12:12p13.33-13.32
pathogenic
NC_000012.11:g.(?_4481740)_(6076855_?)dup duplication not provided [RCV001944242] Chr12:4481740..6076855 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
NC_000012.11:g.(?_4368352)_(5155155_?)dup duplication Episodic ataxia type 1 [RCV003122188] Chr12:4368352..5155155 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1370T>C (p.Ile457Thr) single nucleotide variant Inborn genetic diseases [RCV003276919] Chr12:4763263 [GRCh38]
Chr12:4872429 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NM_017417.2(GALNT8):c.631C>G (p.Arg211Gly) single nucleotide variant Inborn genetic diseases [RCV002682215] Chr12:4739284 [GRCh38]
Chr12:4848450 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1780A>G (p.Arg594Gly) single nucleotide variant Inborn genetic diseases [RCV002840538] Chr12:4772463 [GRCh38]
Chr12:4881629 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.726G>C (p.Lys242Asn) single nucleotide variant Inborn genetic diseases [RCV002974339] Chr12:4744566 [GRCh38]
Chr12:4853732 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.988G>A (p.Glu330Lys) single nucleotide variant Inborn genetic diseases [RCV002759127] Chr12:4745556 [GRCh38]
Chr12:4854722 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1630G>A (p.Gly544Arg) single nucleotide variant Inborn genetic diseases [RCV002869909] Chr12:4765415 [GRCh38]
Chr12:4874581 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1595A>C (p.Asn532Thr) single nucleotide variant Inborn genetic diseases [RCV002869180] Chr12:4765380 [GRCh38]
Chr12:4874546 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1142A>T (p.Tyr381Phe) single nucleotide variant Inborn genetic diseases [RCV002853715] Chr12:4746227 [GRCh38]
Chr12:4855393 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1381G>A (p.Asp461Asn) single nucleotide variant Inborn genetic diseases [RCV002765014] Chr12:4763274 [GRCh38]
Chr12:4872440 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1876C>T (p.His626Tyr) single nucleotide variant Inborn genetic diseases [RCV002712477] Chr12:4772559 [GRCh38]
Chr12:4881725 [GRCh37]
Chr12:12p13.32
likely benign
NM_017417.2(GALNT8):c.433C>T (p.Arg145Trp) single nucleotide variant Inborn genetic diseases [RCV002850084] Chr12:4726753 [GRCh38]
Chr12:4835919 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.212A>G (p.Lys71Arg) single nucleotide variant Inborn genetic diseases [RCV002872922] Chr12:4726532 [GRCh38]
Chr12:4835698 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.781G>T (p.Ala261Ser) single nucleotide variant Inborn genetic diseases [RCV002916372] Chr12:4744621 [GRCh38]
Chr12:4853787 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.58G>A (p.Ala20Thr) single nucleotide variant Inborn genetic diseases [RCV002763418] Chr12:4720735 [GRCh38]
Chr12:4829901 [GRCh37]
Chr12:12p13.32
likely benign
NM_017417.2(GALNT8):c.410A>G (p.Gln137Arg) single nucleotide variant Inborn genetic diseases [RCV002964842] Chr12:4726730 [GRCh38]
Chr12:4835896 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.564A>G (p.Ile188Met) single nucleotide variant Inborn genetic diseases [RCV002963635] Chr12:4739217 [GRCh38]
Chr12:4848383 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1624T>C (p.Tyr542His) single nucleotide variant Inborn genetic diseases [RCV002768866] Chr12:4765409 [GRCh38]
Chr12:4874575 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_017417.2(GALNT8):c.785G>A (p.Arg262His) single nucleotide variant Inborn genetic diseases [RCV003196324] Chr12:4744625 [GRCh38]
Chr12:4853791 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1135C>T (p.Leu379Phe) single nucleotide variant Inborn genetic diseases [RCV003221055] Chr12:4746220 [GRCh38]
Chr12:4855386 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.1852A>G (p.Ser618Gly) single nucleotide variant Inborn genetic diseases [RCV003375920] Chr12:4772535 [GRCh38]
Chr12:4881701 [GRCh37]
Chr12:12p13.32
uncertain significance
NM_017417.2(GALNT8):c.974A>G (p.Asp325Gly) single nucleotide variant Inborn genetic diseases [RCV003372087] Chr12:4745542 [GRCh38]
Chr12:4854708 [GRCh37]
Chr12:12p13.32
uncertain significance
GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1 copy number loss not provided [RCV003483146] Chr12:191243..5332596 [GRCh37]
Chr12:12p13.33-13.32
pathogenic
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:650
Count of miRNA genes:505
Interacting mature miRNAs:557
Transcripts:ENST00000252318, ENST00000535354, ENST00000541339, ENST00000542998
Prediction methods:Microtar, Miranda, Rnahybrid
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.


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 appendage entire extraembryonic component
High
Medium 16 27 1 6 4
Low 91 16 11 6 143 7 193 8 57 29 77 59 1 2
Below cutoff 53 16 128 88 513 88 35 24 48 154 104 109 1 2

Sequence


RefSeq Acc Id: ENST00000252318   ⟹   ENSP00000252318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,720,400 - 4,772,726 (+)Ensembl
RefSeq Acc Id: ENST00000433855   ⟹   ENSP00000408321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,809,176 - 4,851,111 (+)Ensembl
RefSeq Acc Id: ENST00000535354   ⟹   ENSP00000444876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,763,968 - 4,768,476 (+)Ensembl
RefSeq Acc Id: ENST00000541339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,814,337 - 4,851,927 (+)Ensembl
RefSeq Acc Id: ENST00000542998   ⟹   ENSP00000440383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,763,344 - 4,851,003 (+)Ensembl
RefSeq Acc Id: ENST00000648865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl124,746,418 - 4,773,144 (+)Ensembl
RefSeq Acc Id: NM_017417   ⟹   NP_059113
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,720,400 - 4,772,726 (+)NCBI
GRCh37124,829,752 - 4,881,892 (+)RGD
Build 36124,700,013 - 4,752,153 (+)NCBI Archive
Celera126,451,758 - 6,503,719 (+)RGD
HuRef124,686,593 - 4,738,667 (+)ENTREZGENE
CHM1_1124,829,349 - 4,881,469 (+)NCBI
T2T-CHM13v2.0124,727,222 - 4,779,711 (+)NCBI
Sequence:
RefSeq Acc Id: NP_059113   ⟸   NM_017417
- UniProtKB: B2RU02 (UniProtKB/Swiss-Prot),   Q9NY28 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000252318   ⟸   ENST00000252318
RefSeq Acc Id: ENSP00000440383   ⟸   ENST00000542998
RefSeq Acc Id: ENSP00000444876   ⟸   ENST00000535354
RefSeq Acc Id: ENSP00000408321   ⟸   ENST00000433855
Protein Domains
Ricin B lectin   Ricin B-type lectin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NY28-F1-model_v2 AlphaFold Q9NY28 1-637 view protein structure

Promoters
RGD ID:7222823
Promoter ID:EPDNEW_H17156
Type:initiation region
Name:GALNT8_2
Description:polypeptide N-acetylgalactosaminyltransferase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17157  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,719,897 - 4,719,957EPDNEW
RGD ID:7222821
Promoter ID:EPDNEW_H17157
Type:initiation region
Name:GALNT8_1
Description:polypeptide N-acetylgalactosaminyltransferase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17156  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38124,720,403 - 4,720,463EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4130 AgrOrtholog
COSMIC GALNT8 COSMIC
Ensembl Genes ENSG00000130035 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000252318 ENTREZGENE
  ENST00000252318.7 UniProtKB/Swiss-Prot
  ENST00000535354.1 UniProtKB/TrEMBL
  ENST00000542998.5 UniProtKB/TrEMBL
Gene3D-CATH 2.80.10.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ppGaNTase-T1 linker domain-like UniProtKB/TrEMBL
GTEx ENSG00000130035 GTEx
HGNC ID HGNC:4130 ENTREZGENE
Human Proteome Map GALNT8 Human Proteome Map
InterPro GalNAc-T UniProtKB/Swiss-Prot
  Glyco_trans_2-like UniProtKB/Swiss-Prot
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot
  Ricin_B-like_lectins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ricin_B_lectin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26290 UniProtKB/Swiss-Prot
NCBI Gene 26290 ENTREZGENE
OMIM 606250 OMIM
PANTHER N-ACETYLGALACTOSAMINYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE 8-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glycos_transf_2 UniProtKB/Swiss-Prot
  Ricin_B_lectin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28543 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
UniProt B2RU02 ENTREZGENE
  GALT8_HUMAN UniProtKB/Swiss-Prot
  H0YFU9_HUMAN UniProtKB/TrEMBL
  H0YGU9_HUMAN UniProtKB/TrEMBL
  Q68VJ3_HUMAN UniProtKB/TrEMBL
  Q9NY28 ENTREZGENE
UniProt Secondary B2RU02 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-03-19 GALNT8  polypeptide N-acetylgalactosaminyltransferase 8    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)  Symbol and/or name change 5135510 APPROVED
2011-09-01 GALNT8  UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)  GALNT8  UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)  Symbol and/or name change 5135510 APPROVED