HAS2 (hyaluronan synthase 2) - Rat Genome Database

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Gene: HAS2 (hyaluronan synthase 2) Homo sapiens
Analyze
Symbol: HAS2
Name: hyaluronan synthase 2
RGD ID: 732743
HGNC Page HGNC
Description: Exhibits hyaluronan synthase activity and identical protein binding activity. Involved in several processes, including cellular response to cytokine stimulus; cellular response to platelet-derived growth factor stimulus; and hyaluronan biosynthetic process. Localizes to integral component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HA synthase 2; hyaluronate synthase 2; hyaluronic acid synthase 2; MGC126241; MGC126242
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 Ensembl8121,612,116 - 121,641,440 (-)EnsemblGRCh38hg38GRCh38
GRCh388121,612,116 - 121,641,440 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378122,624,356 - 122,653,680 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368122,694,719 - 122,722,811 (-)NCBINCBI36hg18NCBI36
Build 348122,694,720 - 122,722,811NCBI
Celera8118,814,049 - 118,842,240 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8117,950,042 - 117,978,400 (-)NCBIHuRef
CHM1_18122,665,454 - 122,693,813 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
1,4-phenylenediamine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
15-acetyldeoxynivalenol  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dichloroaniline  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-nonylphenol  (EXP)
4-tert-Octylphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butylated hydroxyanisole  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
cytarabine  (EXP)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enalapril  (ISO)
fluoranthene  (ISO)
formaldehyde  (EXP)
genistein  (EXP)
glutathione  (ISO)
glycidol  (ISO)
hyaluronic acid  (EXP,ISO)
hydrogen peroxide  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-acetyl-L-cysteine  (ISO)
oxaliplatin  (ISO)
oxytocin  (ISO)
ozone  (ISO)
p-tert-Amylphenol  (EXP)
panobinostat  (EXP)
PCB138  (ISO)
PD 0325901  (EXP)
pentane-2,3-dione  (ISO)
potassium chromate  (EXP)
raloxifene  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
T-2 toxin  (EXP)
tamoxifen  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
tyrphostin AG 1478  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8798477   PMID:9169154   PMID:10093717   PMID:11790779   PMID:12477932   PMID:14636845   PMID:14752026   PMID:14988410   PMID:15489334   PMID:15642402   PMID:15677552   PMID:15722343  
PMID:15843373   PMID:15922739   PMID:16564133   PMID:16603733   PMID:16687630   PMID:16786194   PMID:16807238   PMID:17307735   PMID:17315194   PMID:17324121   PMID:17611197   PMID:17872502  
PMID:18587729   PMID:19231585   PMID:19416972   PMID:19435493   PMID:19577615   PMID:20072653   PMID:20379614   PMID:20507985   PMID:20522558   PMID:20875124   PMID:20960509   PMID:21228273  
PMID:21357421   PMID:21546767   PMID:21551265   PMID:21743962   PMID:21795679   PMID:21873635   PMID:22016393   PMID:22113945   PMID:22162480   PMID:22298898   PMID:22404213   PMID:22473523  
PMID:22529214   PMID:22695958   PMID:22742591   PMID:22825838   PMID:22887999   PMID:22960332   PMID:23251661   PMID:23303191   PMID:23397370   PMID:23452080   PMID:23560496   PMID:23806178  
PMID:23916661   PMID:23979132   PMID:24314882   PMID:24333416   PMID:24472738   PMID:24527698   PMID:24558368   PMID:24847057   PMID:25081531   PMID:25251750   PMID:25264594   PMID:25325984  
PMID:25795779   PMID:26490312   PMID:26518873   PMID:26661071   PMID:26722395   PMID:26887390   PMID:26987798   PMID:27169756   PMID:27184066   PMID:27339908   PMID:27884164   PMID:27915342  
PMID:28086235   PMID:28137613   PMID:28188289   PMID:28485478   PMID:28604766   PMID:29537212   PMID:29914429   PMID:30282636   PMID:30394292   PMID:30614308   PMID:30904552   PMID:31102316  
PMID:31270213   PMID:31489963   PMID:31932306   PMID:31949043   PMID:33669634   PMID:33803805  


Genomics

Comparative Map Data
HAS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8121,612,116 - 121,641,440 (-)EnsemblGRCh38hg38GRCh38
GRCh388121,612,116 - 121,641,440 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378122,624,356 - 122,653,680 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368122,694,719 - 122,722,811 (-)NCBINCBI36hg18NCBI36
Build 348122,694,720 - 122,722,811NCBI
Celera8118,814,049 - 118,842,240 (-)NCBI
Cytogenetic Map8q24.13NCBI
HuRef8117,950,042 - 117,978,400 (-)NCBIHuRef
CHM1_18122,665,454 - 122,693,813 (-)NCBICHM1_1
Has2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391556,529,023 - 56,557,942 (-)NCBIGRCm39mm39
GRCm39 Ensembl1556,529,023 - 56,557,935 (-)Ensembl
GRCm381556,665,627 - 56,694,546 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1556,665,627 - 56,694,539 (-)EnsemblGRCm38mm10GRCm38
MGSCv371556,497,182 - 56,526,101 (-)NCBIGRCm37mm9NCBIm37
MGSCv361556,495,712 - 56,524,587 (-)NCBImm8
Celera1558,189,438 - 58,218,384 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1523.31NCBI
Has2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2788,113,326 - 88,139,337 (-)NCBI
Rnor_6.0 Ensembl796,438,046 - 96,464,049 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0796,438,046 - 96,464,049 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0797,055,458 - 97,081,461 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4793,230,135 - 93,256,139 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1793,264,364 - 93,290,369 (-)NCBI
Celera784,901,996 - 84,927,998 (-)NCBICelera
RH 3.4 Map7607.6RGD
Cytogenetic Map7q33NCBI
Has2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955540593,316 - 609,865 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955540593,316 - 609,760 (-)NCBIChiLan1.0ChiLan1.0
HAS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18121,073,419 - 121,101,450 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8121,072,154 - 121,089,365 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08118,313,186 - 118,342,160 (-)NCBIMhudiblu_PPA_v0panPan3
HAS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11320,310,946 - 20,342,647 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1320,309,872 - 20,341,636 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1320,341,670 - 20,392,564 (-)NCBI
ROS_Cfam_1.01320,646,614 - 20,697,736 (-)NCBI
UMICH_Zoey_3.11320,379,420 - 20,429,051 (-)NCBI
UNSW_CanFamBas_1.01320,482,900 - 20,533,502 (-)NCBI
UU_Cfam_GSD_1.01320,720,804 - 20,770,669 (-)NCBI
Has2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530317,991,598 - 18,018,681 (+)NCBI
SpeTri2.0NW_00493647025,418,069 - 25,443,332 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHAS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl417,596,472 - 17,675,586 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1417,583,154 - 17,613,524 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2418,458,703 - 18,489,076 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HAS2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18116,199,516 - 116,228,705 (-)NCBI
ChlSab1.1 Ensembl8116,200,799 - 116,228,788 (-)Ensembl
Has2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473533,095,441 - 33,121,030 (+)NCBI

Position Markers
D8S1101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378122,644,951 - 122,645,116UniSTSGRCh37
Build 368122,714,132 - 122,714,297RGDNCBI36
Celera8118,833,531 - 118,833,696RGD
Cytogenetic Map8q24.12UniSTS
HuRef8117,969,722 - 117,969,887UniSTS
Marshfield Genetic Map8128.16UniSTS
Marshfield Genetic Map8128.16RGD
HAS2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378122,626,966 - 122,627,183UniSTSGRCh37
Build 368122,696,147 - 122,696,364RGDNCBI36
Celera8118,815,744 - 118,815,961RGD
HuRef8117,951,737 - 117,951,954UniSTS
HAS2__6698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378122,625,508 - 122,626,424UniSTSGRCh37
Build 368122,694,689 - 122,695,605RGDNCBI36
Celera8118,814,286 - 118,815,202RGD
HuRef8117,950,279 - 117,951,195UniSTS
RH47010  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24.12UniSTS
GeneMap99-GB4 RH Map8474.57UniSTS
NCBI RH Map81462.8UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7Bhsa-let-7b-5pOncomiRDBexternal_infoNANA22871741
MIRLET7Dhsa-let-7d-5pOncomiRDBexternal_infoNANA22871741
MIRLET7Ehsa-let-7e-5pOncomiRDBexternal_infoNANA22871741
MIRLET7Chsa-let-7c-5pOncomiRDBexternal_infoNANA22871741
MIRLET7A2hsa-let-7a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22871741
MIRLET7A2hsa-let-7a-5pOncomiRDBexternal_infoNANA22871741
MIRLET7F1hsa-let-7f-5pOncomiRDBexternal_infoNANA22871741
MIRLET7F2hsa-let-7f-5pOncomiRDBexternal_infoNANA22871741
MIRLET7Ghsa-let-7g-5pOncomiRDBexternal_infoNANA22871741
MIRLET7Ihsa-let-7i-5pOncomiRDBexternal_infoNANA22871741
MIRLET7A1hsa-let-7a-5pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI22871741
MIRLET7A1hsa-let-7a-5pOncomiRDBexternal_infoNANA22871741

Predicted Target Of
Summary Value
Count of predictions:654
Count of miRNA genes:470
Interacting mature miRNAs:516
Transcripts:ENST00000303924
Prediction methods:Miranda
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
High
Medium 81 98 31 13 21 13 434 33 191 36 72 179 4 255 169
Low 2218 1825 1028 289 283 145 3248 1428 1399 156 1052 1167 149 1 942 1956 3
Below cutoff 115 606 609 277 600 262 667 700 2110 158 277 161 20 7 657 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000303924   ⟹   ENSP00000306991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8121,612,116 - 121,641,440 (-)Ensembl
RefSeq Acc Id: NM_005328   ⟹   NP_005319
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388121,612,116 - 121,641,440 (-)NCBI
GRCh378122,624,356 - 122,653,675 (-)NCBI
Build 368122,694,719 - 122,722,811 (-)NCBI Archive
HuRef8117,950,042 - 117,978,400 (-)ENTREZGENE
CHM1_18122,665,454 - 122,693,813 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005319   ⟸   NM_005328
- UniProtKB: Q92819 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000306991   ⟸   ENST00000303924

Promoters
RGD ID:7214089
Promoter ID:EPDNEW_H12791
Type:initiation region
Name:HAS2_2
Description:hyaluronan synthase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12792  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388121,641,228 - 121,641,288EPDNEW
RGD ID:7214091
Promoter ID:EPDNEW_H12792
Type:initiation region
Name:HAS2_1
Description:hyaluronan synthase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12791  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388121,641,440 - 121,641,500EPDNEW
RGD ID:6806792
Promoter ID:HG_KWN:62003
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NM_005328
Position:
Human AssemblyChrPosition (strand)Source
Build 368122,723,526 - 122,724,026 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
NM_005328.2(HAS2):c.-1+2516A>G single nucleotide variant Lung cancer [RCV000106993] Chr8:121638337 [GRCh38]
Chr8:122650577 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_005328.3(HAS2):c.1239C>G (p.Val413=) single nucleotide variant not provided [RCV000953144] Chr8:121614529 [GRCh38]
Chr8:122626769 [GRCh37]
Chr8:8q24.13
benign
NM_005328.3(HAS2):c.1590T>A (p.Tyr530Ter) single nucleotide variant not provided [RCV001092147] Chr8:121614178 [GRCh38]
Chr8:122626418 [GRCh37]
Chr8:8q24.13
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1 copy number loss not provided [RCV001281354] Chr8:121938227..125485728 [GRCh37]
Chr8:8q24.12-24.13
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4819 AgrOrtholog
COSMIC HAS2 COSMIC
Ensembl Genes ENSG00000170961 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000306991 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000303924 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000170961 GTEx
HGNC ID HGNC:4819 ENTREZGENE
Human Proteome Map HAS2 Human Proteome Map
InterPro HAS2 UniProtKB/Swiss-Prot
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot
KEGG Report hsa:3037 UniProtKB/Swiss-Prot
NCBI Gene 3037 ENTREZGENE
OMIM 601636 OMIM
PANTHER PTHR22913:SF7 UniProtKB/Swiss-Prot
PharmGKB PA29195 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot
UniProt HYAS2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q32MM3 UniProtKB/Swiss-Prot