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:4820
Description: Enables hyaluronan synthase activity and identical protein binding activity. Involved in hyaluronan biosynthetic process; positive regulation of DNA-templated transcription; and positive regulation of hyaluranon cable assembly. Located in Golgi apparatus; hyaluranon cable; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381669,083,484 - 69,118,719 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1669,105,653 - 69,118,719 (+)EnsemblGRCh38hg38GRCh38
GRCh371669,139,556 - 69,152,622 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361667,697,661 - 67,710,123 (+)NCBINCBI36Build 36hg18NCBI36
Build 341667,697,660 - 67,710,118NCBI
Celera1653,649,484 - 53,661,945 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1655,012,157 - 55,025,357 (+)NCBIHuRef
CHM1_11670,547,541 - 70,560,696 (+)NCBICHM1_1
T2T-CHM13v2.01674,879,801 - 74,915,029 (+)NCBIT2T-CHM13v2.0
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
cytoplasm  (IEA)
early endosome  (IEA)
endosome  (IEA)
Golgi apparatus  (IDA,IEA)
Golgi membrane  (IEA)
hyaluranon cable  (IDA)
membrane  (IEA,TAS)
nucleus  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The enzymatic degradation of hyaluronan is associated with disease progression in experimental pulmonary hypertension. Ormiston ML, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Feb;298(2):L148-57. doi: 10.1152/ajplung.00097.2009. Epub 2009 Nov 13.
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: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   PMID:33961781   PMID:34380333  
PMID:35269567   PMID:35748872   PMID:35998871   PMID:36497040   PMID:38402581   PMID:38844132  


Genomics

Comparative Map Data
HAS3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381669,083,484 - 69,118,719 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1669,105,653 - 69,118,719 (+)EnsemblGRCh38hg38GRCh38
GRCh371669,139,556 - 69,152,622 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361667,697,661 - 67,710,123 (+)NCBINCBI36Build 36hg18NCBI36
Build 341667,697,660 - 67,710,118NCBI
Celera1653,649,484 - 53,661,945 (+)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1655,012,157 - 55,025,357 (+)NCBIHuRef
CHM1_11670,547,541 - 70,560,696 (+)NCBICHM1_1
T2T-CHM13v2.01674,879,801 - 74,915,029 (+)NCBIT2T-CHM13v2.0
Has3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398107,596,874 - 107,609,534 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8107,596,874 - 107,611,198 (+)EnsemblGRCm39 Ensembl
GRCm388106,870,242 - 106,882,902 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8106,870,242 - 106,884,566 (+)EnsemblGRCm38mm10GRCm38
MGSCv378109,394,142 - 109,406,802 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368109,759,371 - 109,772,031 (+)NCBIMGSCv36mm8
Celera8111,096,197 - 111,108,800 (+)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.28NCBI
Has3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81951,668,276 - 51,691,042 (+)NCBIGRCr8
mRatBN7.21934,768,421 - 34,782,170 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1934,771,982 - 34,782,592 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1941,583,943 - 41,593,370 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01942,237,283 - 42,246,710 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01944,536,404 - 44,545,834 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v21878,639,756 - 78,658,963 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11684,551,375 - 84,570,563 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01649,476,561 - 49,488,820 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11668,864,318 - 68,876,678 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1668,868,416 - 68,877,476 (+)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0580,954,678 - 80,982,141 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl580,953,670 - 80,962,846 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1580,781,897 - 80,809,330 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0580,464,448 - 80,491,878 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0581,104,369 - 81,131,818 (-)NCBIUU_Cfam_GSD_1.0
Has3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934940,306,192 - 40,334,622 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647519,270,830 - 19,282,907 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
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 - 17,853,210 (-)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 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl558,292,044 - 58,298,524 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604721,022,092 - 21,035,135 (-)NCBIVero_WHO_p1.0Vero_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_1.0HetGla 1.0hetGla2

Variants

.
Variants in HAS3
44 total Variants

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 Breast ductal adenocarcinoma [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 Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [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
NM_001199280.2(HAS3):c.29G>A (p.Arg10His) single nucleotide variant not specified [RCV004299371] Chr16:69109424 [GRCh38]
Chr16:69143327 [GRCh37]
Chr16:16q22.1		 uncertain significance
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.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
GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1 copy number loss See cases [RCV002285074] Chr16:68971067..74823560 [GRCh37]
Chr16:16q22.1-23.1		 pathogenic
GRCh37/hg19 16q22.1(chr16:68850677-69377553) copy number gain not specified [RCV002052533] Chr16:68850677..69377553 [GRCh37]
Chr16:16q22.1		 uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
NM_001199280.2(HAS3):c.524G>A (p.Arg175Gln) single nucleotide variant not specified [RCV004103928] Chr16:69109919 [GRCh38]
Chr16:69143822 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.136G>A (p.Gly46Ser) single nucleotide variant not specified [RCV004129988] Chr16:69109531 [GRCh38]
Chr16:69143434 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_024562.2(TANGO6):c.3134T>C (p.Leu1045Pro) single nucleotide variant not provided [RCV004695537]|not specified [RCV004166458] Chr16:69083510 [GRCh38]
Chr16:69117413 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.430G>A (p.Glu144Lys) single nucleotide variant not specified [RCV004177096] Chr16:69109825 [GRCh38]
Chr16:69143728 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.1398G>C (p.Trp466Cys) single nucleotide variant not specified [RCV004159478] Chr16:69115002 [GRCh38]
Chr16:69148905 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_024562.2(TANGO6):c.3133C>T (p.Leu1045Phe) single nucleotide variant not specified [RCV004150291] Chr16:69083509 [GRCh38]
Chr16:69117412 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_024562.2(TANGO6):c.3281C>T (p.Pro1094Leu) single nucleotide variant not specified [RCV004158374] Chr16:69083657 [GRCh38]
Chr16:69117560 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.1657G>C (p.Val553Leu) single nucleotide variant not specified [RCV004208375] Chr16:69115261 [GRCh38]
Chr16:69149164 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.1244C>T (p.Thr415Met) single nucleotide variant not specified [RCV004086927] Chr16:69114848 [GRCh38]
Chr16:69148751 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.317G>A (p.Arg106His) single nucleotide variant not specified [RCV004252439] Chr16:69109712 [GRCh38]
Chr16:69143615 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.92C>T (p.Thr31Met) single nucleotide variant not specified [RCV004274662] Chr16:69109487 [GRCh38]
Chr16:69143390 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.488C>T (p.Thr163Met) single nucleotide variant not specified [RCV004267598] Chr16:69109883 [GRCh38]
Chr16:69143786 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_024562.2(TANGO6):c.3239T>C (p.Leu1080Pro) single nucleotide variant not specified [RCV004279306] Chr16:69083615 [GRCh38]
Chr16:69117518 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.184T>C (p.Phe62Leu) single nucleotide variant not specified [RCV004365469] Chr16:69109579 [GRCh38]
Chr16:69143482 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.661G>C (p.Asp221His) single nucleotide variant not specified [RCV004363932] Chr16:69113465 [GRCh38]
Chr16:69147368 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3 copy number gain not provided [RCV003485118] Chr16:68292285..69424236 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3 copy number gain not specified [RCV003987175] Chr16:67583728..69977397 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_024562.2(TANGO6):c.3178G>A (p.Val1060Met) single nucleotide variant not specified [RCV004469061] Chr16:69083554 [GRCh38]
Chr16:69117457 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.113C>T (p.Thr38Met) single nucleotide variant not specified [RCV004399141] Chr16:69109508 [GRCh38]
Chr16:69143411 [GRCh37]
Chr16:16q22.1		 uncertain significance
NC_000016.9:g.(?_68679283)_(72146396_?)del deletion Immunodeficiency [RCV004581539] Chr16:68679283..72146396 [GRCh37]
Chr16:16q22.1-22.2		 uncertain significance
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1		 likely pathogenic
NM_001199280.2(HAS3):c.247C>T (p.Arg83Trp) single nucleotide variant not specified [RCV004627454] Chr16:69109642 [GRCh38]
Chr16:69143545 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.5C>T (p.Pro2Leu) single nucleotide variant not specified [RCV004627455] Chr16:69109400 [GRCh38]
Chr16:69143303 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.1613G>A (p.Arg538Gln) single nucleotide variant not specified [RCV004627456] Chr16:69115217 [GRCh38]
Chr16:69149120 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.535C>T (p.Arg179Trp) single nucleotide variant not specified [RCV004627457] Chr16:69109930 [GRCh38]
Chr16:69143833 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.1088G>A (p.Arg363Gln) single nucleotide variant not specified [RCV004627458] Chr16:69114692 [GRCh38]
Chr16:69148595 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_024562.2(TANGO6):c.3172G>A (p.Asp1058Asn) single nucleotide variant not specified [RCV004673188] Chr16:69083548 [GRCh38]
Chr16:69117451 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.1252C>A (p.Leu418Met) single nucleotide variant not specified [RCV004627461] Chr16:69114856 [GRCh38]
Chr16:69148759 [GRCh37]
Chr16:16q22.1		 uncertain significance
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
NM_001199280.2(HAS3):c.514G>A (p.Asp172Asn) single nucleotide variant not specified [RCV004318223] Chr16:69109909 [GRCh38]
Chr16:69143812 [GRCh37]
Chr16:16q22.1		 uncertain significance
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.1346G>A (p.Ser449Asn) single nucleotide variant not specified [RCV004123160] Chr16:69114950 [GRCh38]
Chr16:69148853 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_024562.2(TANGO6):c.3238C>A (p.Leu1080Met) single nucleotide variant not specified [RCV004280247] Chr16:69083614 [GRCh38]
Chr16:69117517 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.785G>A (p.Arg262Gln) single nucleotide variant not specified [RCV004262919] Chr16:69114389 [GRCh38]
Chr16:69148292 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.455G>A (p.Arg152His) single nucleotide variant not specified [RCV004343606] Chr16:69109850 [GRCh38]
Chr16:69143753 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.517C>T (p.Arg173Cys) single nucleotide variant not specified [RCV004399144] Chr16:69109912 [GRCh38]
Chr16:69143815 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.880C>T (p.Leu294Phe) single nucleotide variant not specified [RCV004399145] Chr16:69114484 [GRCh38]
Chr16:69148387 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001199280.2(HAS3):c.118A>C (p.Lys40Gln) single nucleotide variant not specified [RCV004627459] Chr16:69109513 [GRCh38]
Chr16:69143416 [GRCh37]
Chr16:16q22.1		 uncertain significance
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407268230GWAS917206_Hbrain measurement QTL GWAS917206 (human)2e-11brain measurementbrain measurement (CMO:0000911)166909415069094151Human
407267463GWAS916439_Hretinal vasculature measurement QTL GWAS916439 (human)0.000004retina blood vessel morphology trait (VT:0002792)166910723569107236Human
407283972GWAS932948_Hbody height QTL GWAS932948 (human)1e-55body height (VT:0001253)body height (CMO:0000106)166910957869109579Human
407366340GWAS1015316_Hbrain measurement QTL GWAS1015316 (human)1e-15brain measurementbrain measurement (CMO:0000911)166908645169086452Human
407268517GWAS917493_Hbrain measurement QTL GWAS917493 (human)1e-11brain measurementbrain measurement (CMO:0000911)166909415069094151Human
407013441GWAS662417_Hdiastolic blood pressure QTL GWAS662417 (human)9e-13diastolic blood pressurediastolic blood pressure (CMO:0000005)166909737869097379Human
407371790GWAS1020766_Hheel bone mineral density QTL GWAS1020766 (human)6e-11heel bone mineral densitybone mineral density (CMO:0001226)166908814069088141Human
407173219GWAS822195_Hcortical surface area measurement QTL GWAS822195 (human)1e-17cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)166910006369100064Human
406969288GWAS618264_Hbrain connectivity measurement QTL GWAS618264 (human)2e-10brain connectivity measurement166909415069094151Human
406982251GWAS631227_Hbrain measurement, neuroimaging measurement QTL GWAS631227 (human)5e-11brain measurement, neuroimaging measurementbrain measurement (CMO:0000911)166909415069094151Human
407283980GWAS932956_Hbody height QTL GWAS932956 (human)3e-33body height (VT:0001253)body height (CMO:0000106)166910991369109914Human
407373957GWAS1022933_Hself reported educational attainment QTL GWAS1022933 (human)4e-08self reported educational attainment166908814069088141Human
406929804GWAS578780_Hsmoking cessation QTL GWAS578780 (human)4e-12smoking cessation166910684469106845Human
407122922GWAS771898_Halcohol consumption measurement QTL GWAS771898 (human)4e-08alcohol consumption measurementethanol drink intake rate (CMO:0001407)166909737869097379Human
407347287GWAS996263_Heducational attainment QTL GWAS996263 (human)1e-09educational attainment166909174569091746Human
407025232GWAS674208_Hattention deficit hyperactivity disorder QTL GWAS674208 (human)0.000004attention deficit hyperactivity disorder166910114669101147Human
407247701GWAS896677_Hcortical thickness QTL GWAS896677 (human)2e-11cortical thickness166910678569106786Human
406989137GWAS638113_Hsmoking cessation QTL GWAS638113 (human)1e-10smoking cessation166910684469106845Human
407326130GWAS975106_Hcortical surface area measurement QTL GWAS975106 (human)5e-15cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)166910006369100064Human
407393726GWAS1042702_Heducational attainment QTL GWAS1042702 (human)1e-08educational attainment166908814069088141Human
407366288GWAS1015264_Hself reported educational attainment QTL GWAS1015264 (human)2e-08self reported educational attainment166908814069088141Human
407117532GWAS766508_Halcohol consumption measurement QTL GWAS766508 (human)2e-10alcohol consumption measurementethanol drink intake rate (CMO:0001407)166909737869097379Human

Markers in Region
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


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1932 464 2268 7265 6438 51 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011523061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF232772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF234839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW294351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ648810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ648811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U86409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000219322   ⟹   ENSP00000219322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1669,106,257 - 69,118,719 (+)Ensembl
Ensembl Acc Id: ENST00000306560   ⟹   ENSP00000304440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1669,107,540 - 69,117,668 (+)Ensembl
Ensembl Acc Id: ENST00000566118   ⟹   ENSP00000456246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1669,106,609 - 69,114,397 (+)Ensembl
Ensembl Acc Id: ENST00000568321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1669,106,254 - 69,106,988 (+)Ensembl
Ensembl Acc Id: ENST00000569188   ⟹   ENSP00000454731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.01674,901,963 - 74,913,970 (+)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
T2T-CHM13v2.01674,903,850 - 74,913,970 (+)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
T2T-CHM13v2.01674,902,532 - 74,915,029 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005255921   ⟹   XP_005255978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,106,222 - 69,117,660 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011523061   ⟹   XP_011521363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,106,222 - 69,117,660 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434045   ⟹   XP_047290001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,084,242 - 69,117,660 (+)NCBI
RefSeq Acc Id: XM_047434046   ⟹   XP_047290002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,083,783 - 69,117,660 (+)NCBI
RefSeq Acc Id: XM_047434047   ⟹   XP_047290003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381669,083,484 - 69,117,660 (+)NCBI
RefSeq Acc Id: XM_054380200   ⟹   XP_054236175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,902,532 - 74,913,970 (+)NCBI
RefSeq Acc Id: XM_054380201   ⟹   XP_054236176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,902,532 - 74,913,970 (+)NCBI
RefSeq Acc Id: XM_054380202   ⟹   XP_054236177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,880,559 - 74,913,970 (+)NCBI
RefSeq Acc Id: XM_054380203   ⟹   XP_054236178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,880,100 - 74,913,970 (+)NCBI
RefSeq Acc Id: XM_054380204   ⟹   XP_054236179
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01674,879,801 - 74,913,970 (+)NCBI
RefSeq Acc Id: NP_001186209   ⟸   NM_001199280
- Peptide Label: isoform a
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   Q96RV2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_619515   ⟸   NM_138612
- Peptide Label: isoform b
- UniProtKB: H3BRH5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005320   ⟸   NM_005329
- Peptide Label: isoform a
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   Q96RV2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255978   ⟸   XM_005255921
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   Q96RV2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521363   ⟸   XM_011523061
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   Q96RV2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000304440   ⟸   ENST00000306560
Ensembl Acc Id: ENSP00000219322   ⟸   ENST00000219322
Ensembl Acc Id: ENSP00000456246   ⟸   ENST00000566118
Ensembl Acc Id: ENSP00000454731   ⟸   ENST00000569188
RefSeq Acc Id: XP_047290003   ⟸   XM_047434047
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047290002   ⟸   XM_047434046
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047290001   ⟸   XM_047434045
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054236179   ⟸   XM_054380204
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054236178   ⟸   XM_054380203
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054236177   ⟸   XM_054380202
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054236175   ⟸   XM_054380200
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054236176   ⟸   XM_054380201
- Peptide Label: isoform X1
- UniProtKB: Q8WTZ0 (UniProtKB/Swiss-Prot),   O00219 (UniProtKB/Swiss-Prot),   A8K5T5 (UniProtKB/Swiss-Prot),   Q9NYP0 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00219-F1-model_v2 AlphaFold O00219 1-553 view protein structure

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

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 Transcript ENST00000219322 ENTREZGENE
  ENST00000219322.7 UniProtKB/Swiss-Prot
  ENST00000306560 ENTREZGENE
  ENST00000306560.1 UniProtKB/Swiss-Prot
  ENST00000566118.5 UniProtKB/TrEMBL
  ENST00000569188 ENTREZGENE
  ENST00000569188.6 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
PANTHER HYALURONAN SYNTHASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HYALURONAN SYNTHASE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_tranf_2_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29196 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K5T5 ENTREZGENE
  C0KZD9_HUMAN UniProtKB/TrEMBL
  H3BRH5 ENTREZGENE, UniProtKB/TrEMBL
  HYAS3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8WTZ0 ENTREZGENE
  Q96RV2 ENTREZGENE, UniProtKB/TrEMBL
  Q9NYP0 ENTREZGENE
UniProt Secondary A8K5T5 UniProtKB/Swiss-Prot
  Q8WTZ0 UniProtKB/Swiss-Prot
  Q9NYP0 UniProtKB/Swiss-Prot