HAGHL (hydroxyacylglutathione hydrolase like) - Rat Genome Database

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Gene: HAGHL (hydroxyacylglutathione hydrolase like) Homo sapiens
Analyze
Symbol: HAGHL
Name: hydroxyacylglutathione hydrolase like
RGD ID: 1317582
HGNC Page HGNC:14177
Description: Predicted to enable hydroxyacylglutathione hydrolase activity. Predicted to be involved in methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: GLO2-like/ RJD12; hydroxyacylglutathione hydrolase-like; hydroxyacylglutathione hydrolase-like protein; MGC2605
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
GRCh3816727,106 - 729,715 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16726,936 - 735,525 (+)EnsemblGRCh38hg38GRCh38
GRCh3716777,106 - 779,715 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616716,959 - 719,716 (+)NCBINCBI36Build 36hg18NCBI36
Celera16977,123 - 979,880 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16699,167 - 701,303 (+)NCBIHuRef
CHM1_116777,236 - 779,685 (+)NCBICHM1_1
T2T-CHM13v2.016731,280 - 733,889 (+)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

Biological Process

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11157797   PMID:12477932   PMID:14702039   PMID:16344560   PMID:17207965   PMID:20237496   PMID:21873635   PMID:23455922   PMID:24104479   PMID:26186194   PMID:28298427   PMID:28514442  
PMID:32814053   PMID:33961781   PMID:36417085   PMID:36736316  


Genomics

Comparative Map Data
HAGHL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3816727,106 - 729,715 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl16726,936 - 735,525 (+)EnsemblGRCh38hg38GRCh38
GRCh3716777,106 - 779,715 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3616716,959 - 719,716 (+)NCBINCBI36Build 36hg18NCBI36
Celera16977,123 - 979,880 (+)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef16699,167 - 701,303 (+)NCBIHuRef
CHM1_116777,236 - 779,685 (+)NCBICHM1_1
T2T-CHM13v2.016731,280 - 733,889 (+)NCBIT2T-CHM13v2.0
Haghl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391725,998,817 - 26,004,560 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1725,998,817 - 26,004,647 (-)EnsemblGRCm39 Ensembl
GRCm381725,779,843 - 25,785,586 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1725,779,843 - 25,785,673 (-)EnsemblGRCm38mm10GRCm38
MGSCv371725,919,770 - 25,922,278 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361725,510,425 - 25,512,933 (-)NCBIMGSCv36mm8
Celera1726,315,631 - 26,318,139 (-)NCBICelera
Cytogenetic Map17A3.3NCBI
cM Map1712.88NCBI
Haghl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81015,309,469 - 15,313,910 (-)NCBIGRCr8
mRatBN7.21014,804,957 - 14,809,495 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1014,804,997 - 14,807,665 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01015,152,736 - 15,157,221 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1015,152,709 - 15,155,412 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01014,965,679 - 14,970,103 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41015,050,382 - 15,053,046 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11015,050,381 - 15,053,046 (-)NCBI
Celera1014,473,975 - 14,478,442 (-)NCBICelera
Cytogenetic Map10q12NCBI
Haghl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544216,475,384 - 16,477,623 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544216,475,155 - 16,478,147 (-)NCBIChiLan1.0ChiLan1.0
HAGHL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v218967,628 - 970,344 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1164,751,488 - 4,754,200 (+)NCBINHGRI_mPanPan1
PanPan1.116740,489 - 742,780 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl16740,574 - 742,521 (+)Ensemblpanpan1.1panPan2
HAGHL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1639,853,979 - 39,857,041 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl639,854,038 - 39,857,283 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha641,118,702 - 41,121,047 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0640,197,115 - 40,200,176 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl640,197,122 - 40,199,765 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1639,885,785 - 39,888,129 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0639,845,998 - 39,848,343 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0640,324,873 - 40,327,218 (-)NCBIUU_Cfam_GSD_1.0
Haghl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344112,189,093 - 112,192,218 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936501287,013 - 290,062 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936501286,958 - 290,062 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HAGHL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl341,046,171 - 41,053,464 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1341,050,047 - 41,053,797 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2341,423,972 - 41,427,865 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HAGHL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.15646,321 - 649,411 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606830,486,272 - 30,489,228 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Haghl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249131,536,147 - 1,537,803 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249131,535,751 - 1,538,516 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HAGHL
31 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 copy number gain See cases [RCV000052368] Chr16:29941..2560460 [GRCh38]
Chr16:79941..2610461 [GRCh37]
Chr16:19941..2550462 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46566-1800860)x3 copy number gain See cases [RCV000052369] Chr16:46566..1800860 [GRCh38]
Chr16:96566..1850861 [GRCh37]
Chr16:36566..1790862 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3 copy number gain See cases [RCV000052370] Chr16:46766..3214623 [GRCh38]
Chr16:96766..3264623 [GRCh37]
Chr16:36766..3204624 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1773349)x1 copy number loss See cases [RCV000053251] Chr16:23141..1773349 [GRCh38]
Chr16:73141..1823350 [GRCh37]
Chr16:13141..1763351 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 copy number loss See cases [RCV000053252] Chr16:23141..1712523 [GRCh38]
Chr16:73141..1762524 [GRCh37]
Chr16:13141..1702525 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 copy number loss See cases [RCV000053253] Chr16:46766..1997582 [GRCh38]
Chr16:96766..2047583 [GRCh37]
Chr16:36766..1987584 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 copy number loss See cases [RCV000053267] Chr16:105429..1499893 [GRCh38]
Chr16:155427..1549894 [GRCh37]
Chr16:95427..1489895 [NCBI36]
Chr16:16p13.3		 pathogenic
NM_022493.2(NARFL):c.574+155C>T single nucleotide variant Malignant melanoma [RCV000071223] Chr16:734582 [GRCh38]
Chr16:784582 [GRCh37]
Chr16:724583 [NCBI36]
Chr16:16p13.3		 not provided
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 copy number loss See cases [RCV000134917] Chr16:46766..1544014 [GRCh38]
Chr16:96766..1594015 [GRCh37]
Chr16:36766..1534016 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 copy number loss See cases [RCV000137826] Chr16:46722..1867327 [GRCh38]
Chr16:96722..1917328 [GRCh37]
Chr16:36722..1857329 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3(chr16:46766-882211)x1 copy number loss See cases [RCV000137979] Chr16:46766..882211 [GRCh38]
Chr16:96766..932211 [GRCh37]
Chr16:36766..872212 [NCBI36]
Chr16:16p13.3		 pathogenic|uncertain significance
GRCh38/hg38 16p13.3(chr16:412341-925326)x3 copy number gain See cases [RCV000139354] Chr16:412341..925326 [GRCh38]
Chr16:462341..975326 [GRCh37]
Chr16:402342..915327 [NCBI36]
Chr16:16p13.3		 uncertain significance
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.3(chr16:636673-786508)x3 copy number gain See cases [RCV000140337] Chr16:636673..786508 [GRCh38]
Chr16:686673..836508 [GRCh37]
Chr16:626674..776509 [NCBI36]
Chr16:16p13.3		 benign
GRCh38/hg38 16p13.3(chr16:59980-1221651)x1 copy number loss See cases [RCV000141384] Chr16:59980..1221651 [GRCh38]
Chr16:109978..1271651 [GRCh37]
Chr16:49978..1211652 [NCBI36]
Chr16:16p13.3		 pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
GRCh37/hg19 16p13.3(chr16:450686-1007236)x3 copy number gain See cases [RCV000239842] Chr16:450686..1007236 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:772433-857560)x3 copy number gain Breast ductal adenocarcinoma [RCV000207201] Chr16:772433..857560 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:97494-1257060)x3 copy number gain Breast ductal adenocarcinoma [RCV000207237] Chr16:97494..1257060 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:88165-1715454)x1 copy number loss See cases [RCV000239415] Chr16:88165..1715454 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:72769-1511716)x1 copy number loss See cases [RCV000240294] Chr16:72769..1511716 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:239130-841725)x3 copy number gain See cases [RCV000240506] Chr16:239130..841725 [GRCh37]
Chr16:16p13.3		 uncertain significance
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 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3 copy number gain See cases [RCV000510815] Chr16:643377..3125125 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
NM_032304.4(HAGHL):c.236A>G (p.Asp79Gly) single nucleotide variant not specified [RCV004306608] Chr16:728181 [GRCh38]
Chr16:778181 [GRCh37]
Chr16:16p13.3		 uncertain significance
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 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 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 16p13.3(chr16:85880-1498731)x1 copy number loss not provided [RCV000683740] Chr16:85880..1498731 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3 copy number gain not provided [RCV000683742] Chr16:85880..3216551 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 copy number loss not provided [RCV000683741] Chr16:85880..1875694 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 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
GRCh37/hg19 16p13.3(chr16:591586-784800)x3 copy number gain not provided [RCV000738948] Chr16:591586..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:624108-780942)x3 copy number gain not provided [RCV000738956] Chr16:624108..780942 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:624108-784800)x3 copy number gain not provided [RCV000738957] Chr16:624108..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:682670-784800)x3 copy number gain not provided [RCV000738959] Chr16:682670..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:683959-781623)x3 copy number gain not provided [RCV000738960] Chr16:683959..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:683959-784800)x3 copy number gain not provided [RCV000738961] Chr16:683959..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:569754-781623)x3 copy number gain not provided [RCV000751474] Chr16:569754..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:569754-847743)x3 copy number gain not provided [RCV000751475] Chr16:569754..847743 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:570466-781623)x3 copy number gain not provided [RCV000751476] Chr16:570466..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:580124-875402)x1 copy number loss not provided [RCV000751479] Chr16:580124..875402 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:747013-781623)x4 copy number gain not provided [RCV000751482] Chr16:747013..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:747013-784800)x3 copy number gain not provided [RCV000751483] Chr16:747013..784800 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:749057-781623)x4 copy number gain not provided [RCV000751484] Chr16:749057..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:767519-781623)x3 copy number gain not provided [RCV000751485] Chr16:767519..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:769853-781623)x3 copy number gain not provided [RCV000751486] Chr16:769853..781623 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:772978-780545)x3 copy number gain not provided [RCV000751487] Chr16:772978..780545 [GRCh37]
Chr16:16p13.3		 benign
GRCh37/hg19 16p13.3(chr16:61451-1593645)x1 copy number loss not provided [RCV000751445] Chr16:61451..1593645 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:450309-951598)x3 copy number gain not provided [RCV000751466] Chr16:450309..951598 [GRCh37]
Chr16:16p13.3		 benign
NM_032304.4(HAGHL):c.87C>A (p.Asp29Glu) single nucleotide variant not specified [RCV004303557] Chr16:727596 [GRCh38]
Chr16:777596 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.539A>C (p.Glu180Ala) single nucleotide variant not specified [RCV004282489] Chr16:728834 [GRCh38]
Chr16:778834 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_624055)_(2115656_?)del deletion Tuberous sclerosis 2 [RCV000811345] Chr16:624055..2115656 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-830613)x1 copy number loss not provided [RCV000846660] Chr16:85880..830613 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 copy number loss not provided [RCV000849039] Chr16:85880..2053328 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-1468459)x1 copy number loss not provided [RCV000848130] Chr16:85880..1468459 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032304.4(HAGHL):c.22G>C (p.Val8Leu) single nucleotide variant not specified [RCV004303674] Chr16:727531 [GRCh38]
Chr16:777531 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.754G>A (p.Ala252Thr) single nucleotide variant not specified [RCV004313579] Chr16:729361 [GRCh38]
Chr16:779361 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2550979_?)dup duplication Idiopathic generalized epilepsy [RCV001033790] Chr16:624055..2550979 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2148005_?)del deletion Tuberous sclerosis 2 [RCV001033183] Chr16:624055..2148005 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:726789-1066511)x1 copy number loss not provided [RCV002473519] Chr16:726789..1066511 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1166355)x1 copy number loss not provided [RCV001006741] Chr16:85880..1166355 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:364182-1186480)x3 copy number gain not provided [RCV001006744] Chr16:364182..1186480 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_765584)_(1204036_?)del deletion Idiopathic generalized epilepsy [RCV001352399] Chr16:765584..1204036 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_624055)_(2153916_?)dup duplication Epilepsy [RCV001344085]|Idiopathic generalized epilepsy [RCV001316565] Chr16:624055..2153916 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:85880-1468828) copy number loss not specified [RCV002052500] Chr16:85880..1468828 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1843653_?)del deletion Idiopathic generalized epilepsy [RCV003109815] Chr16:256302..1843653 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1657267_?)del deletion Saldino-Mainzer syndrome [RCV003116765]|not provided [RCV003116766] Chr16:256302..1657267 [GRCh37]
Chr16:16p13.3		 pathogenic|no classifications from unflagged records
NC_000016.9:g.(?_256302)_(1918176_?)del deletion not provided [RCV003119703] Chr16:256302..1918176 [GRCh37]
Chr16:16p13.3		 uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3		 pathogenic
GRCh37/hg19 16p13.3(chr16:85881-1350186)x1 copy number loss not provided [RCV002474576] Chr16:85881..1350186 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032304.4(HAGHL):c.779C>T (p.Pro260Leu) single nucleotide variant not specified [RCV004190335] Chr16:729386 [GRCh38]
Chr16:779386 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.718C>A (p.Pro240Thr) single nucleotide variant not specified [RCV004111596] Chr16:729325 [GRCh38]
Chr16:779325 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.410C>G (p.Ser137Trp) single nucleotide variant not specified [RCV004126681] Chr16:728516 [GRCh38]
Chr16:778516 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.706G>A (p.Gly236Ser) single nucleotide variant not specified [RCV004162390] Chr16:729313 [GRCh38]
Chr16:779313 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.574G>A (p.Val192Met) single nucleotide variant not specified [RCV004140680] Chr16:728869 [GRCh38]
Chr16:778869 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.758G>A (p.Arg253His) single nucleotide variant not specified [RCV004101473] Chr16:729365 [GRCh38]
Chr16:779365 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.836C>A (p.Ala279Asp) single nucleotide variant not specified [RCV004122036] Chr16:729443 [GRCh38]
Chr16:779443 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.758G>C (p.Arg253Pro) single nucleotide variant not specified [RCV004071356] Chr16:729365 [GRCh38]
Chr16:779365 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.58G>A (p.Glu20Lys) single nucleotide variant not specified [RCV004072349] Chr16:727567 [GRCh38]
Chr16:777567 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.509G>A (p.Cys170Tyr) single nucleotide variant not specified [RCV004313358] Chr16:728804 [GRCh38]
Chr16:778804 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.298A>G (p.Ile100Val) single nucleotide variant not specified [RCV004276444] Chr16:728325 [GRCh38]
Chr16:778325 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.236A>C (p.Asp79Ala) single nucleotide variant not specified [RCV004263724] Chr16:728181 [GRCh38]
Chr16:778181 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.190C>G (p.Pro64Ala) single nucleotide variant not specified [RCV004355912] Chr16:728135 [GRCh38]
Chr16:778135 [GRCh37]
Chr16:16p13.3		 likely benign
GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 copy number loss not provided [RCV003483253] Chr16:85881..1657611 [GRCh37]
Chr16:16p13.3		 pathogenic
NM_032304.4(HAGHL):c.172G>A (p.Asp58Asn) single nucleotide variant not specified [RCV004399028] Chr16:728117 [GRCh38]
Chr16:778117 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.514C>T (p.His172Tyr) single nucleotide variant not specified [RCV004399031] Chr16:728809 [GRCh38]
Chr16:778809 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.641T>C (p.Leu214Pro) single nucleotide variant not specified [RCV004399033] Chr16:729049 [GRCh38]
Chr16:779049 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.428C>G (p.Ser143Trp) single nucleotide variant not specified [RCV004399030] Chr16:728534 [GRCh38]
Chr16:778534 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.649G>A (p.Glu217Lys) single nucleotide variant not specified [RCV004399034] Chr16:729057 [GRCh38]
Chr16:779057 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.303C>A (p.His101Gln) single nucleotide variant not specified [RCV004399029] Chr16:728330 [GRCh38]
Chr16:778330 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.619G>A (p.Val207Met) single nucleotide variant not specified [RCV004399032] Chr16:729027 [GRCh38]
Chr16:779027 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.827T>C (p.Leu276Pro) single nucleotide variant not specified [RCV004399035] Chr16:729434 [GRCh38]
Chr16:779434 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_256302)_(1557737_?)del deletion not provided [RCV004582850] Chr16:256302..1557737 [GRCh37]
Chr16:16p13.3		 pathogenic
NC_000016.9:g.(?_339420)_(3767509_?)dup duplication Epilepsy [RCV004581460]|Idiopathic generalized epilepsy [RCV004581461] Chr16:339420..3767509 [GRCh37]
Chr16:16p13.3		 uncertain significance
NC_000016.9:g.(?_396128)_(1204056_?)dup duplication Idiopathic generalized epilepsy [RCV004581577] Chr16:396128..1204056 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.721G>C (p.Ala241Pro) single nucleotide variant not specified [RCV004627390] Chr16:729328 [GRCh38]
Chr16:779328 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.721G>A (p.Ala241Thr) single nucleotide variant not specified [RCV004627391] Chr16:729328 [GRCh38]
Chr16:779328 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.254T>C (p.Leu85Pro) single nucleotide variant not specified [RCV004627392] Chr16:728199 [GRCh38]
Chr16:778199 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.227T>C (p.Leu76Pro) single nucleotide variant not specified [RCV004624118] Chr16:728172 [GRCh38]
Chr16:778172 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.829A>C (p.Ser277Arg) single nucleotide variant not specified [RCV004627393] Chr16:729436 [GRCh38]
Chr16:779436 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.592T>C (p.Trp198Arg) single nucleotide variant not specified [RCV004627394] Chr16:728887 [GRCh38]
Chr16:778887 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.137C>T (p.Ser46Phe) single nucleotide variant not specified [RCV004627395] Chr16:727996 [GRCh38]
Chr16:777996 [GRCh37]
Chr16:16p13.3		 uncertain significance
NM_032304.4(HAGHL):c.431G>T (p.Cys144Phe) single nucleotide variant not specified [RCV004627396] Chr16:728537 [GRCh38]
Chr16:778537 [GRCh37]
Chr16:16p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7185
Count of miRNA genes:1018
Interacting mature miRNAs:1295
Transcripts:ENST00000341413, ENST00000389701, ENST00000389703, ENST00000549114, ENST00000561546, ENST00000561561, ENST00000561750, ENST00000562141, ENST00000562187, ENST00000563156, ENST00000563792, ENST00000564537, ENST00000564545, ENST00000567414, ENST00000567696, ENST00000568141, ENST00000569143, ENST00000569385, ENST00000569604
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406908576GWAS557552_Hneuroimaging measurement QTL GWAS557552 (human)4e-08neuroimaging measurement16728820728821Human
406920496GWAS569472_Hbody height QTL GWAS569472 (human)9e-08body height (VT:0001253)body height (CMO:0000106)16729296729297Human
407042992GWAS691968_Hsexual dimorphism measurement QTL GWAS691968 (human)3e-10sexual dimorphism measurement16728820728821Human
407192790GWAS841766_Hcorneal resistance factor QTL GWAS841766 (human)5e-09corneal resistance factor16728024728025Human
407236486GWAS885462_Hbody height QTL GWAS885462 (human)3e-08body height (VT:0001253)body height (CMO:0000106)16728024728025Human
406925170GWAS574146_Hbody height QTL GWAS574146 (human)1e-300body height (VT:0001253)body height (CMO:0000106)16728820728821Human
407218211GWAS867187_Hbone fracture QTL GWAS867187 (human)8e-09bone fracture16728158728159Human
407355741GWAS1004717_HBMI-adjusted hip circumference QTL GWAS1004717 (human)4e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)16727121727122Human
407117214GWAS766190_Hsexual dimorphism measurement QTL GWAS766190 (human)8e-11sexual dimorphism measurement16727129727130Human
407286154GWAS935130_HBMI-adjusted waist circumference QTL GWAS935130 (human)1e-10BMI-adjusted waist circumference16727129727130Human
407351593GWAS1000569_HBMI-adjusted hip circumference QTL GWAS1000569 (human)8e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)16727121727122Human
407253176GWAS902152_Hbody height QTL GWAS902152 (human)7e-45body height (VT:0001253)body height (CMO:0000106)16728024728025Human

Markers in Region
SHGC-60761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371672,146,685 - 72,146,784UniSTSGRCh37
Build 361670,704,186 - 70,704,285RGDNCBI36
Celera1656,460,801 - 56,460,900RGD
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22UniSTS
HuRef1657,913,520 - 57,913,619UniSTS
Whitehead-RH Map16313.8UniSTS


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
visual system
1204 2436 2788 2251 4971 1720 2344 5 618 1947 460 2268 7284 6456 51 3733 852 1740 1615 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001365282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_207112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA489499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AE006464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW136334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG338261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG469685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG821643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI333301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI818409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI834617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ067068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX090134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD050886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA056485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EL736395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z98258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000341413   ⟹   ENSP00000341952
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16726,958 - 729,715 (+)Ensembl
Ensembl Acc Id: ENST00000389701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,405 - 729,715 (+)Ensembl
Ensembl Acc Id: ENST00000389703   ⟹   ENSP00000374353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,106 - 729,715 (+)Ensembl
Ensembl Acc Id: ENST00000549114   ⟹   ENSP00000447170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16726,936 - 729,733 (+)Ensembl
Ensembl Acc Id: ENST00000561546   ⟹   ENSP00000456390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,246 - 729,185 (+)Ensembl
Ensembl Acc Id: ENST00000561561   ⟹   ENSP00000457486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16728,352 - 729,087 (+)Ensembl
Ensembl Acc Id: ENST00000561750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,275 - 728,532 (+)Ensembl
Ensembl Acc Id: ENST00000562141   ⟹   ENSP00000456978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,119 - 728,895 (+)Ensembl
Ensembl Acc Id: ENST00000562187   ⟹   ENSP00000459148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,106 - 727,549 (+)Ensembl
Ensembl Acc Id: ENST00000563156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16728,514 - 733,847 (+)Ensembl
Ensembl Acc Id: ENST00000563792   ⟹   ENSP00000456104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,739 - 728,399 (+)Ensembl
Ensembl Acc Id: ENST00000564537   ⟹   ENSP00000457219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,106 - 729,715 (+)Ensembl
Ensembl Acc Id: ENST00000564545   ⟹   ENSP00000454712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,262 - 728,985 (+)Ensembl
Ensembl Acc Id: ENST00000567414   ⟹   ENSP00000460451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,293 - 728,624 (+)Ensembl
Ensembl Acc Id: ENST00000567696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,318 - 729,715 (+)Ensembl
Ensembl Acc Id: ENST00000568141   ⟹   ENSP00000455616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,346 - 728,603 (+)Ensembl
Ensembl Acc Id: ENST00000569143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16727,318 - 728,166 (+)Ensembl
Ensembl Acc Id: ENST00000569385   ⟹   ENSP00000458711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16728,572 - 729,313 (+)Ensembl
Ensembl Acc Id: ENST00000569604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16733,055 - 735,525 (+)Ensembl
Ensembl Acc Id: ENST00000647875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl16728,511 - 735,353 (+)Ensembl
RefSeq Acc Id: NM_001290137   ⟹   NP_001277066
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
CHM1_116776,906 - 779,685 (+)NCBI
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001290139   ⟹   NP_001277068
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
CHM1_116776,906 - 779,685 (+)NCBI
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323635   ⟹   NP_001310564
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
CHM1_116776,906 - 779,685 (+)NCBI
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323636   ⟹   NP_001310565
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
CHM1_116776,906 - 779,685 (+)NCBI
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001365282   ⟹   NP_001352211
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032304   ⟹   NP_115680
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
GRCh3716776,958 - 779,715 (+)NCBI
Build 3616717,267 - 719,716 (+)NCBI Archive
Celera16977,123 - 979,880 (+)RGD
HuRef16699,167 - 701,303 (+)ENTREZGENE
CHM1_116777,216 - 779,685 (+)NCBI
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
Sequence:
RefSeq Acc Id: NM_207112   ⟹   NP_996995
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
RefSeq Acc Id: XM_005255632   ⟹   XP_005255689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
GRCh3716776,958 - 779,715 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522712   ⟹   XP_011521014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047434792   ⟹   XP_047290748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,281 (+)NCBI
RefSeq Acc Id: XM_047434794   ⟹   XP_047290750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
RefSeq Acc Id: XM_047434795   ⟹   XP_047290751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
RefSeq Acc Id: XM_047434796   ⟹   XP_047290752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
RefSeq Acc Id: XM_047434797   ⟹   XP_047290753
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
RefSeq Acc Id: XM_047434798   ⟹   XP_047290754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,106 - 729,715 (+)NCBI
RefSeq Acc Id: XM_054314182   ⟹   XP_054170157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016731,280 - 733,455 (+)NCBI
RefSeq Acc Id: XM_054314183   ⟹   XP_054170158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
RefSeq Acc Id: XM_054314184   ⟹   XP_054170159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
RefSeq Acc Id: XM_054314185   ⟹   XP_054170160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
RefSeq Acc Id: XM_054314186   ⟹   XP_054170161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
RefSeq Acc Id: XM_054314187   ⟹   XP_054170162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.016731,280 - 733,889 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001277066 (Get FASTA)   NCBI Sequence Viewer  
  NP_001277068 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310564 (Get FASTA)   NCBI Sequence Viewer  
  NP_001310565 (Get FASTA)   NCBI Sequence Viewer  
  NP_001352211 (Get FASTA)   NCBI Sequence Viewer  
  NP_115680 (Get FASTA)   NCBI Sequence Viewer  
  NP_996995 (Get FASTA)   NCBI Sequence Viewer  
  XP_005255689 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521014 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290748 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290750 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290751 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290752 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290753 (Get FASTA)   NCBI Sequence Viewer  
  XP_047290754 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170157 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170158 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170159 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170160 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170161 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170162 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH04353 (Get FASTA)   NCBI Sequence Viewer  
  AAH15008 (Get FASTA)   NCBI Sequence Viewer  
  AAH33796 (Get FASTA)   NCBI Sequence Viewer  
  AAK61250 (Get FASTA)   NCBI Sequence Viewer  
  BAB70814 (Get FASTA)   NCBI Sequence Viewer  
  BAD92568 (Get FASTA)   NCBI Sequence Viewer  
  BAG57045 (Get FASTA)   NCBI Sequence Viewer  
  EAW85725 (Get FASTA)   NCBI Sequence Viewer  
  EAW85726 (Get FASTA)   NCBI Sequence Viewer  
  EAW85727 (Get FASTA)   NCBI Sequence Viewer  
  EAW85728 (Get FASTA)   NCBI Sequence Viewer  
  EAW85729 (Get FASTA)   NCBI Sequence Viewer  
  EAW85730 (Get FASTA)   NCBI Sequence Viewer  
  EAW85731 (Get FASTA)   NCBI Sequence Viewer  
  EAW85732 (Get FASTA)   NCBI Sequence Viewer  
  EAW85733 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000341952
  ENSP00000341952.4
  ENSP00000374353
  ENSP00000374353.3
  ENSP00000447170.1
  ENSP00000454712.1
  ENSP00000455616.1
  ENSP00000456104.1
  ENSP00000456390
  ENSP00000456390.1
  ENSP00000456978.1
  ENSP00000457219.1
  ENSP00000457486.1
  ENSP00000458711.1
  ENSP00000459148.1
  ENSP00000460451.1
GenBank Protein Q6PII5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_115680   ⟸   NM_032304
- Peptide Label: isoform 2
- UniProtKB: Q6PII5 (UniProtKB/Swiss-Prot),   B4DED4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005255689   ⟸   XM_005255632
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: NP_001277068   ⟸   NM_001290139
- Peptide Label: isoform 2
- UniProtKB: Q6PII5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001277066   ⟸   NM_001290137
- Peptide Label: isoform 2
- UniProtKB: Q6PII5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011521014   ⟸   XM_011522712
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001310564   ⟸   NM_001323635
- Peptide Label: isoform 2
- UniProtKB: Q6PII5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310565   ⟸   NM_001323636
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001352211   ⟸   NM_001365282
- Peptide Label: isoform 4
- UniProtKB: B4DED4 (UniProtKB/TrEMBL),   H3BT20 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000374353   ⟸   ENST00000389703
Ensembl Acc Id: ENSP00000447170   ⟸   ENST00000549114
Ensembl Acc Id: ENSP00000456390   ⟸   ENST00000561546
Ensembl Acc Id: ENSP00000457486   ⟸   ENST00000561561
Ensembl Acc Id: ENSP00000459148   ⟸   ENST00000562187
Ensembl Acc Id: ENSP00000456978   ⟸   ENST00000562141
Ensembl Acc Id: ENSP00000456104   ⟸   ENST00000563792
Ensembl Acc Id: ENSP00000457219   ⟸   ENST00000564537
Ensembl Acc Id: ENSP00000454712   ⟸   ENST00000564545
Ensembl Acc Id: ENSP00000341952   ⟸   ENST00000341413
Ensembl Acc Id: ENSP00000460451   ⟸   ENST00000567414
Ensembl Acc Id: ENSP00000455616   ⟸   ENST00000568141
Ensembl Acc Id: ENSP00000458711   ⟸   ENST00000569385
RefSeq Acc Id: XP_047290754   ⟸   XM_047434798
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047290753   ⟸   XM_047434797
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047290751   ⟸   XM_047434795
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290752   ⟸   XM_047434796
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047290750   ⟸   XM_047434794
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047290748   ⟸   XM_047434792
- Peptide Label: isoform X1
- UniProtKB: Q9BT45 (UniProtKB/Swiss-Prot),   Q96S11 (UniProtKB/Swiss-Prot),   Q96NR5 (UniProtKB/Swiss-Prot),   Q96BZ3 (UniProtKB/Swiss-Prot),   Q6PII5 (UniProtKB/Swiss-Prot),   Q59FX8 (UniProtKB/Swiss-Prot),   D3DU64 (UniProtKB/Swiss-Prot),   A6NCC4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_996995   ⟸   NM_207112
- Peptide Label: isoform 1
- UniProtKB: Q9BT45 (UniProtKB/Swiss-Prot),   Q96S11 (UniProtKB/Swiss-Prot),   Q96NR5 (UniProtKB/Swiss-Prot),   Q96BZ3 (UniProtKB/Swiss-Prot),   Q6PII5 (UniProtKB/Swiss-Prot),   Q59FX8 (UniProtKB/Swiss-Prot),   D3DU64 (UniProtKB/Swiss-Prot),   A6NCC4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054170162   ⟸   XM_054314187
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054170161   ⟸   XM_054314186
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054170158   ⟸   XM_054314183
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054170160   ⟸   XM_054314185
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054170159   ⟸   XM_054314184
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054170157   ⟸   XM_054314182
- Peptide Label: isoform X1
- UniProtKB: Q9BT45 (UniProtKB/Swiss-Prot),   Q96S11 (UniProtKB/Swiss-Prot),   Q96NR5 (UniProtKB/Swiss-Prot),   Q96BZ3 (UniProtKB/Swiss-Prot),   Q6PII5 (UniProtKB/Swiss-Prot),   Q59FX8 (UniProtKB/Swiss-Prot),   D3DU64 (UniProtKB/Swiss-Prot),   A6NCC4 (UniProtKB/Swiss-Prot)
Protein Domains
Metallo-beta-lactamase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6PII5-F1-model_v2 AlphaFold Q6PII5 1-290 view protein structure

Promoters
RGD ID:6793038
Promoter ID:HG_KWN:22649
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000345165,   ENST00000389700,   ENST00000389701,   ENST00000389702,   NM_032304,   NM_207112,   OTTHUMT00000241665,   OTTHUMT00000241666,   OTTHUMT00000329212,   OTTHUMT00000329214,   OTTHUMT00000329215,   OTTHUMT00000329216,   OTTHUMT00000329220,   OTTHUMT00000329221,   OTTHUMT00000329222,   UC002CJH.1,   UC002CJJ.2,   UC002CJK.1,   UC002CJM.1,   UC002CJN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3616716,491 - 717,897 (-)MPROMDB
RGD ID:6810946
Promoter ID:HG_ACW:28521
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:HAGHL.TAPR07,   NARFL.FAPR07,   NARFL.NAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3616721,119 - 721,619 (+)MPROMDB
RGD ID:7230845
Promoter ID:EPDNEW_H21168
Type:initiation region
Name:HAGHL_1
Description:hydroxyacylglutathione hydrolase-like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21169  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816726,519 - 726,579EPDNEW
RGD ID:7230847
Promoter ID:EPDNEW_H21169
Type:initiation region
Name:HAGHL_2
Description:hydroxyacylglutathione hydrolase-like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21168  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3816727,318 - 727,378EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14177 AgrOrtholog
COSMIC HAGHL COSMIC
Ensembl Genes ENSG00000103253 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000341413 ENTREZGENE
  ENST00000341413.8 UniProtKB/Swiss-Prot
  ENST00000389701 ENTREZGENE
  ENST00000389703 ENTREZGENE
  ENST00000389703.8 UniProtKB/Swiss-Prot
  ENST00000549114.5 UniProtKB/Swiss-Prot
  ENST00000561546 ENTREZGENE
  ENST00000561546.5 UniProtKB/TrEMBL
  ENST00000561561.6 UniProtKB/TrEMBL
  ENST00000562141.5 UniProtKB/TrEMBL
  ENST00000562187.1 UniProtKB/TrEMBL
  ENST00000563792.1 UniProtKB/TrEMBL
  ENST00000564537.5 UniProtKB/Swiss-Prot
  ENST00000564545.1 UniProtKB/TrEMBL
  ENST00000567414.5 UniProtKB/TrEMBL
  ENST00000568141.5 UniProtKB/TrEMBL
  ENST00000569385.1 UniProtKB/TrEMBL
Gene3D-CATH 3.60.15.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000103253 GTEx
HGNC ID HGNC:14177 ENTREZGENE
Human Proteome Map HAGHL Human Proteome Map
InterPro Clx_II_MBL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAGH_C UniProtKB/TrEMBL
  Hydroxyacylglutathione_Hdrlase UniProtKB/TrEMBL
  Metallo-B-lactamas UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RibonucZ/Hydroxyglut_hydro UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84264 UniProtKB/Swiss-Prot
NCBI Gene HAGHL ENTREZGENE
PANTHER BETA LACTAMASE DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HYDROXYACYLGLUTATHIONE HYDROLASE-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HAGH_C UniProtKB/TrEMBL
  Lactamase_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29180 PharmGKB
SMART Lactamase_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56281 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NCC4 ENTREZGENE
  B4DED4 ENTREZGENE, UniProtKB/TrEMBL
  D3DU64 ENTREZGENE
  H3BN70_HUMAN UniProtKB/TrEMBL
  H3BQ57_HUMAN UniProtKB/TrEMBL
  H3BR74_HUMAN UniProtKB/TrEMBL
  H3BT20 ENTREZGENE, UniProtKB/TrEMBL
  H3BU61_HUMAN UniProtKB/TrEMBL
  HAGHL_HUMAN UniProtKB/Swiss-Prot
  I3L1B7_HUMAN UniProtKB/TrEMBL
  I3L1W0_HUMAN UniProtKB/TrEMBL
  I3L3H5_HUMAN UniProtKB/TrEMBL
  Q59FX8 ENTREZGENE
  Q6PII5 ENTREZGENE
  Q96BZ3 ENTREZGENE
  Q96NR5 ENTREZGENE
  Q96S11 ENTREZGENE
  Q9BT45 ENTREZGENE
UniProt Secondary A6NCC4 UniProtKB/Swiss-Prot
  D3DU64 UniProtKB/Swiss-Prot
  Q59FX8 UniProtKB/Swiss-Prot
  Q96BZ3 UniProtKB/Swiss-Prot
  Q96NR5 UniProtKB/Swiss-Prot
  Q96S11 UniProtKB/Swiss-Prot
  Q9BT45 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-06-20 HAGHL  hydroxyacylglutathione hydrolase like    hydroxyacylglutathione hydrolase-like  Symbol and/or name change 5135510 APPROVED