CSGALNACT2 (chondroitin sulfate N-acetylgalactosaminyltransferase 2) - Rat Genome Database

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Gene: CSGALNACT2 (chondroitin sulfate N-acetylgalactosaminyltransferase 2) Homo sapiens
Analyze
Symbol: CSGALNACT2
Name: chondroitin sulfate N-acetylgalactosaminyltransferase 2
RGD ID: 1604805
HGNC Page HGNC
Description: Exhibits acetylgalactosaminyltransferase activity. Involved in chondroitin sulfate proteoglycan biosynthetic process and dermatan sulfate proteoglycan biosynthetic process. Localizes to membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta 4 GalNAcT-2; beta4GalNAcT; beta4GalNAcT-2; ChGn-2; CHGN2; chondroitin beta-1,4-N-acetylgalactosaminyltransferase 2; chondroitin beta1,4 N-acetylgalactosaminyltransferase 2; chondroitin sulfate GalNAcT-2; DKFZp686H13226; FLJ43310; GALNACT-2; GALNACT2; glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase 2; MGC40204; PRO0082
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: CSGALNACT2P1   CSGALNACT2P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1043,138,445 - 43,185,302 (+)EnsemblGRCh38hg38GRCh38
GRCh381043,138,445 - 43,185,308 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371043,633,893 - 43,680,756 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361042,953,940 - 43,000,756 (+)NCBINCBI36hg18NCBI36
Celera1039,637,088 - 39,685,330 (+)NCBI
Cytogenetic Map10q11.21NCBI
HuRef1040,176,396 - 40,208,225 (+)NCBIHuRef
CHM1_11043,673,093 - 43,719,940 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:11696556   PMID:11788602   PMID:12433924   PMID:12446672   PMID:12477932   PMID:12911817   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16385451   PMID:17285323   PMID:19196962  
PMID:19298595   PMID:19946888   PMID:21873635   PMID:22590693   PMID:24280246   PMID:24548782   PMID:24623722   PMID:25310821   PMID:25416956   PMID:25582753   PMID:26186194   PMID:26871637  
PMID:27107014   PMID:28514442   PMID:30579596   PMID:32296183  


Genomics

Comparative Map Data
CSGALNACT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1043,138,445 - 43,185,302 (+)EnsemblGRCh38hg38GRCh38
GRCh381043,138,445 - 43,185,308 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371043,633,893 - 43,680,756 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361042,953,940 - 43,000,756 (+)NCBINCBI36hg18NCBI36
Celera1039,637,088 - 39,685,330 (+)NCBI
Cytogenetic Map10q11.21NCBI
HuRef1040,176,396 - 40,208,225 (+)NCBIHuRef
CHM1_11043,673,093 - 43,719,940 (+)NCBICHM1_1
Csgalnact2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396118,084,413 - 118,116,132 (-)NCBIGRCm39mm39
GRCm39 Ensembl6118,084,413 - 118,116,101 (-)Ensembl
GRCm386118,107,452 - 118,139,140 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6118,107,452 - 118,139,140 (-)EnsemblGRCm38mm10GRCm38
MGSCv376118,057,470 - 118,089,158 (-)NCBIGRCm37mm9NCBIm37
MGSCv366118,073,071 - 118,104,759 (-)NCBImm8
Celera6119,930,102 - 119,961,791 (-)NCBICelera
Cytogenetic Map6F1NCBI
Csgalnact2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24151,271,774 - 151,308,856 (-)NCBI
Rnor_6.0 Ensembl4150,153,844 - 150,185,044 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.04150,148,626 - 150,185,062 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.04216,076,593 - 216,113,012 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44154,399,859 - 154,431,049 (-)NCBIRGSC3.4rn4RGSC3.4
Celera4140,150,159 - 140,181,327 (-)NCBICelera
Cytogenetic Map4q42NCBI
Csgalnact2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555461,261,238 - 1,296,420 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555461,261,231 - 1,296,420 (+)NCBIChiLan1.0ChiLan1.0
CSGALNACT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11043,311,054 - 43,342,855 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1043,311,054 - 43,342,855 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01040,111,714 - 40,159,683 (+)NCBIMhudiblu_PPA_v0panPan3
CSGALNACT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1283,878,049 - 3,944,654 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl283,879,258 - 3,907,222 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha284,111,259 - 4,177,894 (-)NCBI
ROS_Cfam_1.0284,056,781 - 4,123,459 (-)NCBI
UMICH_Zoey_3.1283,853,732 - 3,920,357 (-)NCBI
UNSW_CanFamBas_1.0283,896,777 - 3,963,394 (-)NCBI
UU_Cfam_GSD_1.0284,031,092 - 4,097,726 (-)NCBI
Csgalnact2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721383,755,589 - 83,793,924 (-)NCBI
SpeTri2.0NW_0049366172,990,040 - 3,028,392 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSGALNACT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1461,372,317 - 61,415,621 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11461,372,289 - 61,415,563 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21466,203,109 - 66,244,883 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CSGALNACT2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1938,806,991 - 38,851,998 (+)NCBI
ChlSab1.1 Ensembl938,807,263 - 38,853,707 (+)Ensembl
Vero_WHO_p1.0NW_02366605647,637,133 - 47,682,678 (-)NCBI
Csgalnact2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624922428,088 - 465,936 (+)NCBI

Position Markers
A008J24  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,679,233 - 43,679,411UniSTSGRCh37
Build 361042,999,239 - 42,999,417RGDNCBI36
Celera1039,683,813 - 39,683,991RGD
Cytogenetic Map10q11.21UniSTS
HuRef1040,206,702 - 40,206,880UniSTS
GeneMap99-GB4 RH Map10254.6UniSTS
NCBI RH Map10591.5UniSTS
UniSTS:51004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371043,664,012 - 43,664,242UniSTSGRCh37
Build 361042,984,018 - 42,984,248RGDNCBI36
Celera1039,667,163 - 39,667,387RGD
HuRef1040,190,057 - 40,190,279UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:840
Count of miRNA genes:614
Interacting mature miRNAs:677
Transcripts:ENST00000374464, ENST00000374466
Prediction methods: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.


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 1957 2350 1368 273 1835 177 3652 1445 2262 237 1315 1579 110 1201 2284 1
Low 481 641 358 351 116 288 704 751 1472 182 143 34 65 1 3 504 5 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001319654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_945783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA721408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB079252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB090811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF116646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX102005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT003455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA674683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB291068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374466   ⟹   ENSP00000363590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1043,138,445 - 43,185,302 (+)Ensembl
RefSeq Acc Id: NM_001319654   ⟹   NP_001306583
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,154,897 - 43,185,308 (+)NCBI
CHM1_11043,689,541 - 43,719,940 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001319656   ⟹   NP_001306585
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,154,897 - 43,185,308 (+)NCBI
CHM1_11043,689,541 - 43,719,940 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018590   ⟹   NP_061060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,138,445 - 43,185,302 (+)NCBI
GRCh371043,633,893 - 43,680,756 (+)NCBI
Build 361042,953,940 - 43,000,756 (+)NCBI Archive
Celera1039,637,088 - 39,685,330 (+)RGD
HuRef1040,176,396 - 40,208,225 (+)NCBI
CHM1_11043,673,093 - 43,719,940 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135077
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,138,445 - 43,185,302 (+)NCBI
CHM1_11043,673,093 - 43,719,940 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539938   ⟹   XP_011538240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,138,450 - 43,172,156 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016388   ⟹   XP_016871877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,138,450 - 43,185,308 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016389   ⟹   XP_016871878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,138,450 - 43,185,308 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016391   ⟹   XP_016871880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,138,450 - 43,159,364 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956986
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,138,450 - 43,185,308 (+)NCBI
Sequence:
RefSeq Acc Id: XR_945783
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,138,450 - 43,185,296 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_061060   ⟸   NM_018590
- Peptide Label: isoform 1
- UniProtKB: Q8N6G5 (UniProtKB/Swiss-Prot),   A0A0S2Z5F5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011538240   ⟸   XM_011539938
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001306583   ⟸   NM_001319654
- Peptide Label: isoform 2
- UniProtKB: Q8N6G5 (UniProtKB/Swiss-Prot),   A0A0S2Z5K4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306585   ⟸   NM_001319656
- Peptide Label: isoform 3
- UniProtKB: Q8N6G5 (UniProtKB/Swiss-Prot),   A0A0S2Z5F9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871877   ⟸   XM_017016388
- Peptide Label: isoform X2
- UniProtKB: A0A0S2Z5K4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871878   ⟸   XM_017016389
- Peptide Label: isoform X3
- UniProtKB: A0A0S2Z5F9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016871880   ⟸   XM_017016391
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: ENSP00000363590   ⟸   ENST00000374466

Promoters
RGD ID:6788127
Promoter ID:HG_KWN:9236
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000047693,   UC001JAM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361042,953,806 - 42,954,372 (+)MPROMDB
RGD ID:7217387
Promoter ID:EPDNEW_H14439
Type:initiation region
Name:CSGALNACT2_1
Description:chondroitin sulfate N-acetylgalactosaminyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381043,138,445 - 43,138,505EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2
pathogenic
NM_018590.4(CSGALNACT2):c.117T>C (p.Asp39=) single nucleotide variant Malignant melanoma [RCV000068936] Chr10:43155266 [GRCh38]
Chr10:43650714 [GRCh37]
Chr10:42970720 [NCBI36]
Chr10:10q11.21
not provided
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1
pathogenic
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23
pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q11.21(chr10:42395216-43234240)x3 copy number gain See cases [RCV000137126] Chr10:42395216..43234240 [GRCh38]
Chr10:42890664..43729688 [GRCh37]
Chr10:42210670..43049694 [NCBI36]
Chr10:10q11.21
uncertain significance
GRCh38/hg38 10q11.21(chr10:43126703-43372908)x3 copy number gain See cases [RCV000139028] Chr10:43126703..43372908 [GRCh38]
Chr10:43622151..43868356 [GRCh37]
Chr10:42942157..43188362 [NCBI36]
Chr10:10q11.21
uncertain significance
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3
pathogenic
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2
likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21(chr10:42706947-44489498)x3 copy number gain See cases [RCV000510280] Chr10:42706947..44489498 [GRCh37]
Chr10:10q11.21
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss PARP Inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q11.21(chr10:43439353-43680587)x3 copy number gain not provided [RCV000749579] Chr10:43439353..43680587 [GRCh37]
Chr10:10q11.21
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3 copy number gain not provided [RCV000762700] Chr10:37149872..46169876 [GRCh37]
Chr10:10p11.21-q11.22
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24292 AgrOrtholog
COSMIC CSGALNACT2 COSMIC
Ensembl Genes ENSG00000169826 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000363590 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000374466 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.550.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169826 GTEx
HGNC ID HGNC:24292 ENTREZGENE
Human Proteome Map CSGALNACT2 Human Proteome Map
InterPro Chond_GalNAc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55454 ENTREZGENE
OMIM 616616 OMIM
Pfam CHGN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162382854 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z5F5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5F9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z5K4 ENTREZGENE, UniProtKB/TrEMBL
  CGAT2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KWL7 UniProtKB/Swiss-Prot
  Q6MZJ5 UniProtKB/Swiss-Prot
  Q6MZP6 UniProtKB/Swiss-Prot
  Q8TCH4 UniProtKB/Swiss-Prot
  Q9P1I6 UniProtKB/Swiss-Prot