HAS3 (hyaluronan synthase 3) - Rat Genome Database

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Gene: HAS3 (hyaluronan synthase 3) Homo sapiens
Analyze
Symbol: HAS3
Name: hyaluronan synthase 3
RGD ID: 1350380
HGNC Page HGNC
Description: Enables hyaluronan synthase activity and identical protein binding activity. Involved in hyaluronan biosynthetic process; positive regulation of hyaluranon cable assembly; and positive regulation of transcription, DNA-templated. Located in hyaluranon cable.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HA synthase 3; hyaluronate synthase 3; hyaluronic acid synthase 3
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
GRCh38.p13 Ensembl1669,105,653 - 69,118,719 (+)EnsemblGRCh38hg38GRCh38
GRCh381669,105,653 - 69,118,719 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371669,139,556 - 69,152,622 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361667,697,661 - 67,710,123 (+)NCBINCBI36hg18NCBI36
Build 341667,697,660 - 67,710,118NCBI
Celera1653,649,484 - 53,661,945 (+)NCBI
Cytogenetic Map16q22.1NCBI
HuRef1655,012,157 - 55,025,357 (+)NCBIHuRef
CHM1_11670,547,541 - 70,560,696 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:9083017   PMID:9169154   PMID:10794710   PMID:11278609   PMID:11378333   PMID:11431361   PMID:11790779   PMID:11851874   PMID:12477932   PMID:14566823   PMID:14636845   PMID:16564133  
PMID:16786194   PMID:16900089   PMID:18587729   PMID:18821565   PMID:19231585   PMID:19435493   PMID:19913121   PMID:20507985   PMID:20628086   PMID:20849445   PMID:20875124   PMID:21429221  
PMID:21873635   PMID:22695958   PMID:23303191   PMID:23560496   PMID:23979132   PMID:24470002   PMID:24509846   PMID:24658508   PMID:25147816   PMID:25795779   PMID:25843802   PMID:25934334  
PMID:26222208   PMID:26883802   PMID:28107185   PMID:28514442   PMID:28987865   PMID:29693123   PMID:30614308   PMID:31820036   PMID:31948751   PMID:32296183  


Genomics

Comparative Map Data
HAS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1669,105,653 - 69,118,719 (+)EnsemblGRCh38hg38GRCh38
GRCh381669,105,653 - 69,118,719 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371669,139,556 - 69,152,622 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361667,697,661 - 67,710,123 (+)NCBINCBI36hg18NCBI36
Build 341667,697,660 - 67,710,118NCBI
Celera1653,649,484 - 53,661,945 (+)NCBI
Cytogenetic Map16q22.1NCBI
HuRef1655,012,157 - 55,025,357 (+)NCBIHuRef
CHM1_11670,547,541 - 70,560,696 (+)NCBICHM1_1
Has3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398107,596,874 - 107,609,534 (+)NCBIGRCm39mm39
GRCm39 Ensembl8107,596,874 - 107,611,198 (+)Ensembl
GRCm388106,870,242 - 106,882,902 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8106,870,242 - 106,884,566 (+)EnsemblGRCm38mm10GRCm38
MGSCv378109,394,142 - 109,406,802 (+)NCBIGRCm37mm9NCBIm37
MGSCv368109,759,371 - 109,772,031 (+)NCBImm8
Celera8111,096,197 - 111,108,800 (+)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.28NCBI
Has3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21934,768,421 - 34,782,170 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1934,771,982 - 34,782,592 (+)Ensembl
Rnor_6.01939,063,298 - 39,077,745 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1939,063,998 - 39,077,722 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01949,928,282 - 49,942,033 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41936,718,156 - 36,727,586 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11936,723,036 - 36,732,467 (+)NCBI
Celera1934,192,486 - 34,201,862 (+)NCBICelera
Cytogenetic Map19q12NCBI
Has3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554847,542,286 - 7,570,684 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554847,542,286 - 7,570,108 (-)NCBIChiLan1.0ChiLan1.0
HAS3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11668,864,318 - 68,876,678 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1668,868,416 - 68,877,476 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01649,476,561 - 49,488,820 (+)NCBIMhudiblu_PPA_v0panPan3
HAS3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1580,520,261 - 80,530,769 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl580,520,261 - 80,529,434 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha580,511,151 - 80,538,585 (-)NCBI
ROS_Cfam_1.0580,954,678 - 80,982,141 (-)NCBI
UMICH_Zoey_3.1580,781,897 - 80,809,330 (-)NCBI
UNSW_CanFamBas_1.0580,464,448 - 80,491,878 (-)NCBI
UU_Cfam_GSD_1.0581,104,369 - 81,131,818 (-)NCBI
Has3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934940,306,192 - 40,334,622 (-)NCBI
SpeTri2.0NW_00493647519,270,788 - 19,282,922 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HAS3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl617,843,882 - 17,853,011 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1617,844,974 - 17,870,331 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HAS3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1558,289,672 - 58,306,843 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl558,292,044 - 58,298,524 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604721,022,092 - 21,035,135 (-)NCBIVero_WHO_p1.0
Has3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474617,218,792 - 17,235,499 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-60824  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371669,151,956 - 69,152,244UniSTSGRCh37
GRCh37X44,494,987 - 44,495,268UniSTSGRCh37
Build 36X44,379,931 - 44,380,212RGDNCBI36
Celera1653,661,279 - 53,661,567UniSTS
CeleraX48,631,780 - 48,632,061RGD
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1655,024,691 - 55,024,979UniSTS
GeneMap99-GB4 RH Map16408.3UniSTS
Whitehead-RH Map16309.9UniSTS
NCBI RH Map16508.6UniSTS
RH48919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371669,151,269 - 69,151,396UniSTSGRCh37
Build 361667,708,770 - 67,708,897RGDNCBI36
Celera1653,660,593 - 53,660,720RGD
Cytogenetic Map16q22.1UniSTS
HuRef1655,024,008 - 55,024,135UniSTS
GeneMap99-GB4 RH Map16412.98UniSTS
NCBI RH Map16531.4UniSTS
D16S2678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371669,152,231 - 69,152,397UniSTSGRCh37
GRCh37X44,494,834 - 44,495,000UniSTSGRCh37
Build 36X44,379,778 - 44,379,944RGDNCBI36
CeleraX48,631,627 - 48,631,793RGD
Celera1653,661,554 - 53,661,720UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp11.3UniSTS
HuRef1655,024,966 - 55,025,132UniSTS
D16S3301  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371669,152,124 - 69,152,244UniSTSGRCh37
Build 361667,709,625 - 67,709,745RGDNCBI36
Celera1653,661,447 - 53,661,567RGD
Cytogenetic Map16q22.1UniSTS
HuRef1655,024,859 - 55,024,979UniSTS
TNG Radiation Hybrid Map1630000.0UniSTS
Stanford-G3 RH Map162688.0UniSTS
GeneMap99-G3 RH Map163132.0UniSTS
SHGC-60590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371669,152,380 - 69,152,529UniSTSGRCh37
GRCh37X44,494,702 - 44,494,851UniSTSGRCh37
Build 36X44,379,646 - 44,379,795RGDNCBI36
Celera1653,661,703 - 53,661,852UniSTS
CeleraX48,631,495 - 48,631,644RGD
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1655,025,115 - 55,025,264UniSTS
GeneMap99-GB4 RH Map16408.24UniSTS
Whitehead-RH Map16306.3UniSTS
NCBI RH Map16534.7UniSTS
A006H34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371669,151,942 - 69,152,201UniSTSGRCh37
GRCh37X44,495,026 - 44,495,282UniSTSGRCh37
Build 36X44,379,970 - 44,380,226RGDNCBI36
Celera1653,661,265 - 53,661,524UniSTS
CeleraX48,631,819 - 48,632,075RGD
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1655,024,677 - 55,024,936UniSTS
GeneMap99-GB4 RH Map16408.42UniSTS
NCBI RH Map16533.4UniSTS
G32357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X44,495,026 - 44,495,282UniSTSGRCh37
GRCh371669,151,942 - 69,152,201UniSTSGRCh37
Celera1653,661,265 - 53,661,524UniSTS
CeleraX48,631,819 - 48,632,075UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q22.1UniSTS
HuRef1655,024,677 - 55,024,936UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2045
Count of miRNA genes:1023
Interacting mature miRNAs:1213
Transcripts:ENST00000219322, ENST00000306560, ENST00000566118, ENST00000568321, ENST00000569188
Prediction methods: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 adipose tissue appendage entire extraembryonic component
High
Medium 103 2 258 35 7 14 581 5 33 66 189 457 30 155
Low 2285 1583 1239 444 854 308 3272 1351 2923 293 1240 1142 139 1154 2158 3
Below cutoff 44 1396 226 143 1071 142 502 836 752 59 19 9 2 50 475 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000219322   ⟹   ENSP00000219322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1669,106,257 - 69,118,719 (+)Ensembl
RefSeq Acc Id: ENST00000306560   ⟹   ENSP00000304440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1669,107,540 - 69,117,668 (+)Ensembl
RefSeq Acc Id: ENST00000566118   ⟹   ENSP00000456246
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1669,106,609 - 69,114,397 (+)Ensembl
RefSeq Acc Id: ENST00000568321
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1669,106,254 - 69,106,988 (+)Ensembl
RefSeq Acc Id: ENST00000569188   ⟹   ENSP00000454731
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1669,105,653 - 69,117,660 (+)Ensembl
RefSeq Acc Id: NM_001199280   ⟹   NP_001186209
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,105,653 - 69,117,660 (+)NCBI
GRCh371669,139,467 - 69,152,622 (+)NCBI
HuRef1655,012,157 - 55,025,357 (+)ENTREZGENE
CHM1_11670,547,541 - 70,559,645 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005329   ⟹   NP_005320
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,107,540 - 69,117,660 (+)NCBI
GRCh371669,139,467 - 69,152,622 (+)ENTREZGENE
GRCh371669,139,467 - 69,152,622 (+)NCBI
Build 361667,698,944 - 67,709,072 (+)NCBI Archive
HuRef1655,012,157 - 55,025,357 (+)ENTREZGENE
CHM1_11670,549,517 - 70,559,645 (+)NCBI
Sequence:
RefSeq Acc Id: NM_138612   ⟹   NP_619515
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,106,222 - 69,118,719 (+)NCBI
GRCh371669,139,467 - 69,152,622 (+)ENTREZGENE
GRCh371669,139,467 - 69,152,622 (+)NCBI
Build 361667,697,661 - 67,710,123 (+)NCBI Archive
HuRef1655,012,157 - 55,025,357 (+)ENTREZGENE
CHM1_11670,548,203 - 70,560,696 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255921   ⟹   XP_005255978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,106,215 - 69,117,668 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523061   ⟹   XP_011521363
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,106,237 - 69,117,668 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001186209   ⟸   NM_001199280
- Peptide Label: isoform a
- UniProtKB: O00219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_619515   ⟸   NM_138612
- Peptide Label: isoform b
- UniProtKB: O00219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005320   ⟸   NM_005329
- Peptide Label: isoform a
- UniProtKB: O00219 (UniProtKB/Swiss-Prot),   Q96RV2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255978   ⟸   XM_005255921
- Peptide Label: isoform X1
- UniProtKB: O00219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521363   ⟸   XM_011523061
- Peptide Label: isoform X1
- UniProtKB: O00219 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000304440   ⟸   ENST00000306560
RefSeq Acc Id: ENSP00000219322   ⟸   ENST00000219322
RefSeq Acc Id: ENSP00000456246   ⟸   ENST00000566118
RefSeq Acc Id: ENSP00000454731   ⟸   ENST00000569188

Promoters
RGD ID:6793172
Promoter ID:HG_KWN:24109
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000268899,   UC010CFH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361667,696,946 - 67,697,707 (+)MPROMDB
RGD ID:7232661
Promoter ID:EPDNEW_H22076
Type:multiple initiation site
Name:HAS3_1
Description:hyaluronan synthase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,106,222 - 69,106,282EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2
pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1
pathogenic
GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1 copy number loss See cases [RCV000053337] Chr16:68698941..74353205 [GRCh38]
Chr16:68732844..74387103 [GRCh37]
Chr16:67290345..72944604 [NCBI36]
Chr16:16q22.1-23.1
pathogenic
NM_001199280.1(HAS3):c.636G>A (p.Gln212=) single nucleotide variant Malignant melanoma [RCV000071193] Chr16:69110031 [GRCh38]
Chr16:69143934 [GRCh37]
Chr16:67701435 [NCBI36]
Chr16:16q22.1
not provided
NM_001199280.2(HAS3):c.141G>T (p.Leu47=) single nucleotide variant not provided [RCV000122520] Chr16:69109536 [GRCh38]
Chr16:69143439 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001199280.2(HAS3):c.279A>G (p.Ala93=) single nucleotide variant anthracyclines and related substances response - Toxicity/ADR [RCV000211138] Chr16:69109674 [GRCh38]
Chr16:69143577 [GRCh37]
Chr16:16q22.1
drug response
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1
pathogenic
GRCh38/hg38 16q22.1(chr16:68937032-69254118)x3 copy number gain See cases [RCV000136428] Chr16:68937032..69254118 [GRCh38]
Chr16:68970935..69288021 [GRCh37]
Chr16:67528436..67845522 [NCBI36]
Chr16:16q22.1
uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3 copy number gain See cases [RCV000142038] Chr16:69053457..83274681 [GRCh38]
Chr16:69087360..83308286 [GRCh37]
Chr16:67644861..81865787 [NCBI36]
Chr16:16q22.1-23.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Ductal breast carcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2
likely pathogenic|uncertain significance
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3
pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_001199280.2(HAS3):c.214C>T (p.Arg72Cys) single nucleotide variant not provided [RCV000881408] Chr16:69109609 [GRCh38]
Chr16:69143512 [GRCh37]
Chr16:16q22.1
benign
NM_001199280.2(HAS3):c.1590A>G (p.Leu530=) single nucleotide variant not provided [RCV000962415] Chr16:69115194 [GRCh38]
Chr16:69149097 [GRCh37]
Chr16:16q22.1
benign
NM_001199280.2(HAS3):c.1577C>G (p.Ala526Gly) single nucleotide variant not provided [RCV000906027] Chr16:69115181 [GRCh38]
Chr16:69149084 [GRCh37]
Chr16:16q22.1
benign
GRCh37/hg19 16q22.1(chr16:68679283-69221649)x3 copy number gain not provided [RCV000996431] Chr16:68679283..69221649 [GRCh37]
Chr16:16q22.1
uncertain significance
NM_001199280.2(HAS3):c.202C>T (p.Arg68Trp) single nucleotide variant not provided [RCV001579529] Chr16:69109597 [GRCh38]
Chr16:69143500 [GRCh37]
Chr16:16q22.1
uncertain significance
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1
pathogenic
GRCh37/hg19 16q22.1(chr16:68689253-69168290)x3 copy number gain not provided [RCV001259861] Chr16:68689253..69168290 [GRCh37]
Chr16:16q22.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4820 AgrOrtholog
COSMIC HAS3 COSMIC
Ensembl Genes ENSG00000103044 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000219322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000304440 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000454731 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000456246 UniProtKB/TrEMBL
Ensembl Transcript ENST00000219322 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000306560 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000566118 UniProtKB/TrEMBL
  ENST00000569188 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000103044 GTEx
HGNC ID HGNC:4820 ENTREZGENE
Human Proteome Map HAS3 Human Proteome Map
InterPro Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3038 UniProtKB/Swiss-Prot
NCBI Gene 3038 ENTREZGENE
OMIM 602428 OMIM
PharmGKB PA29196 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C0KZD9_HUMAN UniProtKB/TrEMBL
  H3BRH5_HUMAN UniProtKB/TrEMBL
  HYAS3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96RV2 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K5T5 UniProtKB/Swiss-Prot
  Q8WTZ0 UniProtKB/Swiss-Prot
  Q9NYP0 UniProtKB/Swiss-Prot