ASAH2 (N-acylsphingosine amidohydrolase 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: ASAH2 (N-acylsphingosine amidohydrolase 2) Homo sapiens
Analyze
Symbol: ASAH2
Name: N-acylsphingosine amidohydrolase 2
RGD ID: 1605058
HGNC Page HGNC:18860
Description: Enables N-acylsphingosine amidohydrolase activity; calcium ion binding activity; and zinc ion binding activity. Involved in several processes, including negative regulation of apoptotic signaling pathway; regulation of mitotic cell cycle; and sphingolipid metabolic process. Located in several cellular components, including Golgi apparatus; extracellular exosome; and mitochondrion.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: acylsphingosine deacylase 2; BCDase; hCD; HNAC1; LCDase; MGC129777; mitochondrial ceramidase; N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2; N-CDase; NCDase; neutral ceramidase; neutral/alkaline ceramidase; non-lysosomal ceramidase
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
GRCh381050,184,861 - 50,251,516 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1050,182,778 - 50,279,720 (-)EnsemblGRCh38hg38GRCh38
GRCh371051,944,621 - 52,011,276 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361051,617,078 - 51,678,319 (-)NCBINCBI36Build 36hg18NCBI36
Celera1075,112,386 - 75,164,225 (-)NCBICelera
Cytogenetic Map10q11.23NCBI
HuRef1045,946,293 - 46,007,775 (-)NCBIHuRef
CHM1_11052,228,873 - 52,290,233 (-)NCBICHM1_1
T2T-CHM13v2.01051,033,047 - 51,099,700 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8076819   PMID:10753931   PMID:10781606   PMID:11278489   PMID:11328816   PMID:12477932   PMID:14557071   PMID:15164054   PMID:15210766   PMID:15489334   PMID:15845354   PMID:15946935  
PMID:16061940   PMID:16229686   PMID:16385451   PMID:16940153   PMID:17334805   PMID:17475390   PMID:17982236   PMID:19345744   PMID:20520628   PMID:20877624   PMID:21530485   PMID:21531200  
PMID:21873635   PMID:23263486   PMID:23400010   PMID:24397980   PMID:24798654   PMID:26190575   PMID:30154232   PMID:30389354   PMID:33547170   PMID:33961781   PMID:35134389  


Genomics

Comparative Map Data
ASAH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381050,184,861 - 50,251,516 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1050,182,778 - 50,279,720 (-)EnsemblGRCh38hg38GRCh38
GRCh371051,944,621 - 52,011,276 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361051,617,078 - 51,678,319 (-)NCBINCBI36Build 36hg18NCBI36
Celera1075,112,386 - 75,164,225 (-)NCBICelera
Cytogenetic Map10q11.23NCBI
HuRef1045,946,293 - 46,007,775 (-)NCBIHuRef
CHM1_11052,228,873 - 52,290,233 (-)NCBICHM1_1
T2T-CHM13v2.01051,033,047 - 51,099,700 (-)NCBIT2T-CHM13v2.0
Asah2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391931,962,046 - 32,080,540 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1931,959,997 - 32,085,611 (-)EnsemblGRCm39 Ensembl
GRCm381931,984,646 - 32,103,140 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1931,982,597 - 32,108,211 (-)EnsemblGRCm38mm10GRCm38
MGSCv371932,059,136 - 32,177,630 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361932,050,643 - 32,169,137 (-)NCBIMGSCv36mm8
Celera1932,772,701 - 32,889,548 (-)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1926.58NCBI
Asah2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81239,278,994 - 239,386,598 (-)NCBIGRCr8
mRatBN7.21229,865,662 - 229,973,253 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1229,865,662 - 229,939,162 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1238,231,511 - 238,304,901 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01245,161,187 - 245,234,587 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01237,990,171 - 238,070,306 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01250,557,042 - 250,665,083 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1250,557,044 - 250,630,677 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01257,790,747 - 257,898,648 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41236,000,768 - 236,072,477 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11236,164,792 - 236,236,500 (-)NCBI
Celera1226,986,485 - 227,059,852 (-)NCBICelera
Cytogenetic Map1q52NCBI
Asah2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554255,840,355 - 5,931,891 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554255,840,355 - 5,931,891 (+)NCBIChiLan1.0ChiLan1.0
LOC100985247
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2862,502,517 - 62,565,185 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11062,522,499 - 62,565,519 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01046,842,830 - 46,908,811 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11048,970,524 - 49,025,245 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1048,969,434 - 49,025,336 (-)Ensemblpanpan1.1panPan2
ASAH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12637,136,601 - 37,228,215 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2637,136,897 - 37,218,783 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2637,022,117 - 37,103,999 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02638,669,614 - 38,751,828 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2638,669,925 - 38,763,081 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12636,577,467 - 36,659,447 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02636,157,741 - 36,239,965 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02637,398,030 - 37,480,024 (-)NCBIUU_Cfam_GSD_1.0
Asah2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721376,700,488 - 76,788,640 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367352,031,844 - 2,092,347 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367352,004,373 - 2,092,501 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASAH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1499,025,005 - 99,129,100 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11499,018,111 - 99,141,374 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214107,865,243 - 107,969,067 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ASAH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1980,409,649 - 80,501,527 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl980,409,478 - 80,476,731 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604841,060,629 - 41,133,632 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asah2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479112,907,485 - 13,059,005 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479112,906,908 - 13,059,033 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASAH2
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1 copy number loss See cases [RCV000052320] Chr10:45931517..50655311 [GRCh38]
Chr10:49430980..52415071 [GRCh37]
Chr10:49100986..52085077 [NCBI36]
Chr10:10q11.22-11.23
pathogenic
GRCh38/hg38 10q11.21-21.2(chr10:42335305-60284876)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052506]|See cases [RCV000052506] Chr10:42335305..60284876 [GRCh38]
Chr10:42830753..62044634 [GRCh37]
Chr10:42150759..61714640 [NCBI36]
Chr10:10q11.21-21.2
pathogenic
NC_000010.10:g.49033586_52417694del deletion Megacolon [RCV001290060] Chr10:49033586..52417694 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3 copy number gain See cases [RCV000134381] Chr10:42884294..52265317 [GRCh38]
Chr10:43379742..54025077 [GRCh37]
Chr10:42699748..53695083 [NCBI36]
Chr10:10q11.21-21.1
pathogenic
GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3 copy number gain See cases [RCV000134846] Chr10:42395201..50877059 [GRCh38]
Chr10:42890649..52636819 [GRCh37]
Chr10:42210655..52306825 [NCBI36]
Chr10:10q11.21-11.23
pathogenic
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2
pathogenic
GRCh38/hg38 10q11.23(chr10:50151274-50673230)x3 copy number gain See cases [RCV000137481] Chr10:50151274..50673230 [GRCh38]
Chr10:51911034..52432990 [GRCh37]
Chr10:51581040..52102996 [NCBI36]
Chr10:10q11.23
uncertain significance
GRCh38/hg38 10q11.23(chr10:49971505-50699223)x1 copy number loss See cases [RCV000138898] Chr10:49971505..50699223 [GRCh38]
Chr10:51886486..52458983 [GRCh37]
Chr10:51401271..52128989 [NCBI36]
Chr10:10q11.23
uncertain significance
GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 copy number gain See cases [RCV000142967] Chr10:42112187..67400675 [GRCh38]
Chr10:42607635..69160433 [GRCh37]
Chr10:41927641..68830439 [NCBI36]
Chr10:10q11.21-21.3
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3 copy number gain See cases [RCV000449059] Chr10:49392896..52372011 [GRCh37]
Chr10:10q11.22-11.23
likely pathogenic
NC_000010.10:g.43611191_61663279inv inversion Pediatric metastatic thyroid tumour [RCV000585841] Chr10:43611191..61663279 [GRCh37]
Chr10:10q11.21-21.2
likely pathogenic
GRCh37/hg19 10q11.23(chr10:51974581-52155084)x3 copy number gain See cases [RCV000446556] Chr10:51974581..52155084 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10q11.23(chr10:51790819-52167537) copy number gain Abnormal esophagus morphology [RCV000416651] Chr10:51790819..52167537 [GRCh37]
Chr10:10q11.23
likely benign
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.23(chr10:51735637-52479003)x1 copy number loss See cases [RCV000510364] Chr10:51735637..52479003 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q11.22-11.23(chr10:49381707-52467180)x3 copy number gain See cases [RCV000512610] Chr10:49381707..52467180 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.23(chr10:51910584-52128786)x3 copy number gain not provided [RCV000683205] Chr10:51910584..52128786 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10q11.23(chr10:51757722-52431727)x3 copy number gain not provided [RCV000683245] Chr10:51757722..52431727 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10q11.23(chr10:51774712-52431727)x3 copy number gain not provided [RCV000683243] Chr10:51774712..52431727 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q11.22-21.1(chr10:49390457-60061643)x1 copy number loss not provided [RCV000762699] Chr10:49390457..60061643 [GRCh37]
Chr10:10q11.22-21.1
likely pathogenic
GRCh37/hg19 10q11.23(chr10:51744546-52428369)x1 copy number loss not provided [RCV000845658] Chr10:51744546..52428369 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10q11.23-21.3(chr10:50250603-69256083)x1 copy number loss not provided [RCV001006319] Chr10:50250603..69256083 [GRCh37]
Chr10:10q11.23-21.3
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x3 copy number gain not provided [RCV000846722] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
GRCh37/hg19 10q11.23(chr10:51659413-52476136)x1 copy number loss not provided [RCV001006321] Chr10:51659413..52476136 [GRCh37]
Chr10:10q11.23
likely benign|uncertain significance
GRCh37/hg19 10q11.23(chr10:51753154-52166339)x3 copy number gain not provided [RCV001260094] Chr10:51753154..52166339 [GRCh37]
Chr10:10q11.23
likely benign
GRCh37/hg19 10q11.23(chr10:51735638-52476136)x1 copy number loss not provided [RCV001833006] Chr10:51735638..52476136 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10q11.23(chr10:51919828-52511108)x3 copy number gain not provided [RCV001829216] Chr10:51919828..52511108 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)x1 copy number loss See cases [RCV002286348] Chr10:49378356..52467181 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
GRCh37/hg19 10q11.22-11.23(chr10:46584432-51974628)x3 copy number gain not provided [RCV002511649] Chr10:46584432..51974628 [GRCh37]
Chr10:10q11.22-11.23
uncertain significance
NM_019893.4(ASAH2):c.695A>C (p.Asp232Ala) single nucleotide variant not specified [RCV004107812] Chr10:50234545 [GRCh38]
Chr10:51994305 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.1139G>C (p.Gly380Ala) single nucleotide variant not specified [RCV004122855] Chr10:50214744 [GRCh38]
Chr10:51974504 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.64G>A (p.Ala22Thr) single nucleotide variant not specified [RCV004071456] Chr10:50248547 [GRCh38]
Chr10:52008307 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.196C>T (p.Arg66Cys) single nucleotide variant not specified [RCV004239694] Chr10:50245386 [GRCh38]
Chr10:52005146 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.112A>G (p.Ile38Val) single nucleotide variant not specified [RCV004144587] Chr10:50248499 [GRCh38]
Chr10:52008259 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.236C>T (p.Ser79Phe) single nucleotide variant not specified [RCV004115019] Chr10:50245346 [GRCh38]
Chr10:52005106 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.221C>T (p.Thr74Ile) single nucleotide variant not specified [RCV004115018] Chr10:50245361 [GRCh38]
Chr10:52005121 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.455G>A (p.Arg152Gln) single nucleotide variant not specified [RCV004203841] Chr10:50243257 [GRCh38]
Chr10:52003017 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.99C>G (p.Ile33Met) single nucleotide variant not specified [RCV004173545] Chr10:50248512 [GRCh38]
Chr10:52008272 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.470G>A (p.Ser157Asn) single nucleotide variant not specified [RCV004265978] Chr10:50243242 [GRCh38]
Chr10:52003002 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
NM_019893.4(ASAH2):c.97A>G (p.Ile33Val) single nucleotide variant not specified [RCV004349778] Chr10:50248514 [GRCh38]
Chr10:52008274 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.990G>T (p.Lys330Asn) single nucleotide variant not specified [RCV004357752] Chr10:50218534 [GRCh38]
Chr10:51978294 [GRCh37]
Chr10:10q11.23
uncertain significance
GRCh37/hg19 10q11.23-22.1(chr10:51735638-70791246)x1 copy number loss not provided [RCV003483092] Chr10:51735638..70791246 [GRCh37]
Chr10:10q11.23-22.1
pathogenic
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2
pathogenic
NM_019893.4(ASAH2):c.361A>G (p.Met121Val) single nucleotide variant not specified [RCV004420441] Chr10:50243351 [GRCh38]
Chr10:52003111 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.338G>T (p.Gly113Val) single nucleotide variant not specified [RCV004420440] Chr10:50245244 [GRCh38]
Chr10:52005004 [GRCh37]
Chr10:10q11.23
uncertain significance
NM_019893.4(ASAH2):c.1103C>T (p.Ser368Phe) single nucleotide variant not specified [RCV004420439] Chr10:50214780 [GRCh38]
Chr10:51974540 [GRCh37]
Chr10:10q11.23
uncertain significance
NC_000010.10:g.(?_49383876)_(52383915_?)del deletion Cockayne syndrome type 2 [RCV003885341] Chr10:49383876..52383915 [GRCh37]
Chr10:10q11.22-11.23
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1665
Count of miRNA genes:806
Interacting mature miRNAs:935
Transcripts:ENST00000329428, ENST00000395526, ENST00000443575, ENST00000447815, ENST00000474434, ENST00000489640
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D10S225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371048,036,053 - 48,036,263UniSTSGRCh37
GRCh371051,981,342 - 51,981,613UniSTSGRCh37
GRCh371048,036,047 - 48,036,320UniSTSGRCh37
GRCh371051,981,348 - 51,981,556UniSTSGRCh37
Build 361047,556,059 - 47,556,269RGDNCBI36
Celera1075,137,194 - 75,137,467UniSTS
Celera1075,137,200 - 75,137,410RGD
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
HuRef1045,980,750 - 45,981,021UniSTS
HuRef1045,980,756 - 45,980,964UniSTS
Marshfield Genetic Map1070.06RGD
Genethon Genetic Map1072.5UniSTS
deCODE Assembly Map1069.56UniSTS
Stanford-G3 RH Map102400.0UniSTS
Whitehead-YAC Contig Map10 UniSTS
GeneMap99-G3 RH Map102376.0UniSTS
G59537  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371051,999,083 - 51,999,286UniSTSGRCh37
GRCh371048,053,792 - 48,053,995UniSTSGRCh37
Build 361047,573,798 - 47,574,001RGDNCBI36
Celera1075,154,939 - 75,155,142RGD
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map10q11.21UniSTS
HuRef1045,998,493 - 45,998,696UniSTS
TNG Radiation Hybrid Map1023026.0UniSTS
D10S1447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371051,999,080 - 51,999,306UniSTSGRCh37
GRCh371048,053,789 - 48,054,015UniSTSGRCh37
Build 361047,573,795 - 47,574,021RGDNCBI36
Celera1075,154,936 - 75,155,162RGD
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map10q11.21UniSTS
HuRef1045,998,490 - 45,998,716UniSTS
Whitehead-RH Map10390.9UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map10629.9UniSTS
D10S225  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Marshfield Genetic Map1070.06UniSTS
Genethon Genetic Map1072.5UniSTS
deCODE Assembly Map1069.56UniSTS
Whitehead-YAC Contig Map10 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 6 1 3
Low 503 35 554 236 211 228 358 65 684 194 658 422 20 10 50 3
Below cutoff 1881 2599 1160 384 1239 235 3917 2058 2969 211 772 1161 149 1163 2682 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001143974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC254108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF449759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL450382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY049008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG289059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  N94907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000329428   ⟹   ENSP00000329886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,187,312 - 50,248,553 (-)Ensembl
RefSeq Acc Id: ENST00000395526   ⟹   ENSP00000378897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,182,778 - 50,279,720 (-)Ensembl
RefSeq Acc Id: ENST00000443575   ⟹   ENSP00000392766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,187,242 - 50,240,547 (-)Ensembl
RefSeq Acc Id: ENST00000447815   ⟹   ENSP00000388206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,187,242 - 50,248,610 (-)Ensembl
RefSeq Acc Id: ENST00000474434   ⟹   ENSP00000476403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,187,411 - 50,199,146 (-)Ensembl
RefSeq Acc Id: ENST00000489640   ⟹   ENSP00000476827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,187,211 - 50,199,146 (-)Ensembl
RefSeq Acc Id: ENST00000656090   ⟹   ENSP00000499688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,187,242 - 50,248,610 (-)Ensembl
RefSeq Acc Id: ENST00000682911   ⟹   ENSP00000506746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1050,184,861 - 50,251,516 (-)Ensembl
RefSeq Acc Id: NM_001143974   ⟹   NP_001137446
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,184,861 - 50,251,516 (-)NCBI
GRCh371051,947,000 - 52,008,370 (-)ENTREZGENE
HuRef1045,946,293 - 46,007,775 (-)NCBI
CHM1_11052,228,873 - 52,290,233 (-)NCBI
T2T-CHM13v2.01051,033,047 - 51,099,700 (-)NCBI
Sequence:
RefSeq Acc Id: NM_019893   ⟹   NP_063946
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,184,861 - 50,251,516 (-)NCBI
GRCh371051,947,000 - 52,008,370 (-)ENTREZGENE
Build 361051,617,078 - 51,678,319 (-)NCBI Archive
HuRef1045,946,293 - 46,007,775 (-)NCBI
CHM1_11052,228,873 - 52,290,233 (-)NCBI
T2T-CHM13v2.01051,033,047 - 51,099,700 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001137446   ⟸   NM_001143974
- Peptide Label: isoform b
- UniProtKB: A0A0C4DFQ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_063946   ⟸   NM_019893
- Peptide Label: isoform a
- UniProtKB: Q5T1D5 (UniProtKB/Swiss-Prot),   Q5SZP7 (UniProtKB/Swiss-Prot),   Q5SZP6 (UniProtKB/Swiss-Prot),   Q5SNT7 (UniProtKB/Swiss-Prot),   Q3KNU1 (UniProtKB/Swiss-Prot),   Q71ME6 (UniProtKB/Swiss-Prot),   Q9NR71 (UniProtKB/Swiss-Prot),   A0A0C4DFQ8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000392766   ⟸   ENST00000443575
RefSeq Acc Id: ENSP00000499688   ⟸   ENST00000656090
RefSeq Acc Id: ENSP00000329886   ⟸   ENST00000329428
RefSeq Acc Id: ENSP00000388206   ⟸   ENST00000447815
RefSeq Acc Id: ENSP00000476403   ⟸   ENST00000474434
RefSeq Acc Id: ENSP00000378897   ⟸   ENST00000395526
RefSeq Acc Id: ENSP00000476827   ⟸   ENST00000489640
RefSeq Acc Id: ENSP00000506746   ⟸   ENST00000682911
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NR71-F1-model_v2 AlphaFold Q9NR71 1-780 view protein structure

Promoters
RGD ID:7217535
Promoter ID:EPDNEW_H14514
Type:initiation region
Name:ASAH2_1
Description:N-acylsphingosine amidohydrolase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14515  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381050,251,515 - 50,251,575EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18860 AgrOrtholog
COSMIC ASAH2 COSMIC
Ensembl Genes ENSG00000188611 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000329428 ENTREZGENE
  ENST00000329428.10 UniProtKB/TrEMBL
  ENST00000395526.9 UniProtKB/Swiss-Prot
  ENST00000443575.5 UniProtKB/TrEMBL
  ENST00000474434.2 UniProtKB/TrEMBL
  ENST00000489640.5 UniProtKB/TrEMBL
  ENST00000682911 ENTREZGENE
  ENST00000682911.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.2300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000188611 GTEx
HGNC ID HGNC:18860 ENTREZGENE
Human Proteome Map ASAH2 Human Proteome Map
InterPro Ceramidase_alk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NCDase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEUT/ALK_ceramidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEUT/ALK_ceramidase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56624 UniProtKB/Swiss-Prot
NCBI Gene 56624 ENTREZGENE
OMIM 611202 OMIM
PANTHER NEUTRAL CERAMIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12670 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ceramidase_alk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ceramidse_alk_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38720 PharmGKB
UniProt A0A0C4DFQ8 ENTREZGENE, UniProtKB/TrEMBL
  ASAH2_HUMAN UniProtKB/Swiss-Prot
  E9PBM9_HUMAN UniProtKB/TrEMBL
  Q3KNU1 ENTREZGENE
  Q5SNT7 ENTREZGENE
  Q5SZP6 ENTREZGENE
  Q5SZP7 ENTREZGENE
  Q5T1D5 ENTREZGENE
  Q71ME6 ENTREZGENE
  Q9NR71 ENTREZGENE
  V9GY52_HUMAN UniProtKB/TrEMBL
  V9GYJ5_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q3KNU1 UniProtKB/Swiss-Prot
  Q5SNT7 UniProtKB/Swiss-Prot
  Q5SZP6 UniProtKB/Swiss-Prot
  Q5SZP7 UniProtKB/Swiss-Prot
  Q5T1D5 UniProtKB/Swiss-Prot
  Q71ME6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 ASAH2  N-acylsphingosine amidohydrolase 2  ASAH2  N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2  Symbol and/or name change 5135510 APPROVED