MANEA (mannosidase endo-alpha) - Rat Genome Database

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Gene: MANEA (mannosidase endo-alpha) Homo sapiens
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Symbol: MANEA
Name: mannosidase endo-alpha
RGD ID: 1345544
HGNC Page HGNC:21072
Description: Enables glycoprotein endo-alpha-1,2-mannosidase activity. Located in Golgi apparatus. Is active in Golgi membrane. Implicated in anxiety disorder; cocaine dependence; and panic disorder.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: alpha 1,2-endomannosidase; DKFZp686D20120; ENDO; endo-alpha mannosidase; endomannosidase; FLJ12838; glycoprotein endo-alpha-1,2-mannosidase; hEndo; mandaselin; mannosidase, endo-alpha
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
GRCh38695,577,535 - 95,609,452 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl695,577,485 - 95,609,470 (+)EnsemblGRCh38hg38GRCh38
GRCh37696,025,411 - 96,057,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36696,132,134 - 96,164,047 (+)NCBINCBI36Build 36hg18NCBI36
Build 34696,132,133 - 96,164,047NCBI
Celera696,666,751 - 96,698,498 (+)NCBICelera
Cytogenetic Map6q16.1NCBI
HuRef693,458,650 - 93,490,603 (+)NCBIHuRef
CHM1_1696,287,324 - 96,319,327 (+)NCBICHM1_1
T2T-CHM13v2.0696,748,485 - 96,780,392 (+)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
Golgi apparatus  (IDA,IEA)
Golgi membrane  (IBA,IDA,IEA,TAS)
membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Association of variants in MANEA with cocaine-related behaviors. Farrer LA, etal., Arch Gen Psychiatry. 2009 Mar;66(3):267-74. doi: 10.1001/archgenpsychiatry.2008.538.
2. The α-endomannosidase gene (MANEA) is associated with panic disorder and social anxiety disorder. Jensen KP, etal., Transl Psychiatry. 2014 Jan 28;4(1):e353. doi: 10.1038/tp.2013.122.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Substance dependence low-density whole genome association study in two distinct American populations. Yu Y, etal., Hum Genet. 2008 Jun;123(5):495-506. doi: 10.1007/s00439-008-0501-0. Epub 2008 Apr 26.
Additional References at PubMed
PMID:1736542   PMID:2187500   PMID:2541446   PMID:2542563   PMID:2649653   PMID:2829950   PMID:3099781   PMID:3264072   PMID:8093218   PMID:8673525   PMID:9109416   PMID:9361017  
PMID:11076863   PMID:11230166   PMID:11530211   PMID:12477932   PMID:12560567   PMID:14574404   PMID:14702039   PMID:15489336   PMID:15677381   PMID:15760709   PMID:16381901   PMID:16696976  
PMID:16733250   PMID:18029348   PMID:20379614   PMID:21873635   PMID:24967714   PMID:26186194   PMID:28514442   PMID:30745168   PMID:32393512   PMID:33961781   PMID:35007762   PMID:35696571  


Genomics

Comparative Map Data
MANEA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38695,577,535 - 95,609,452 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl695,577,485 - 95,609,470 (+)EnsemblGRCh38hg38GRCh38
GRCh37696,025,411 - 96,057,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36696,132,134 - 96,164,047 (+)NCBINCBI36Build 36hg18NCBI36
Build 34696,132,133 - 96,164,047NCBI
Celera696,666,751 - 96,698,498 (+)NCBICelera
Cytogenetic Map6q16.1NCBI
HuRef693,458,650 - 93,490,603 (+)NCBIHuRef
CHM1_1696,287,324 - 96,319,327 (+)NCBICHM1_1
T2T-CHM13v2.0696,748,485 - 96,780,392 (+)NCBIT2T-CHM13v2.0
Manea
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39426,324,506 - 26,346,913 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl426,324,506 - 26,346,891 (-)EnsemblGRCm39 Ensembl
GRCm38426,324,506 - 26,346,918 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl426,324,506 - 26,346,891 (-)EnsemblGRCm38mm10GRCm38
MGSCv37426,251,653 - 26,273,799 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36426,415,136 - 26,437,282 (-)NCBIMGSCv36mm8
Celera426,032,320 - 26,054,498 (-)NCBICelera
Cytogenetic Map4A3NCBI
cM Map410.92NCBI
Manea
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8544,992,937 - 45,015,084 (-)NCBIGRCr8
mRatBN7.2540,196,373 - 40,218,540 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl540,196,396 - 40,218,459 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx542,298,331 - 42,311,130 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0543,897,348 - 43,910,147 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0543,826,581 - 43,839,380 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0540,845,103 - 40,867,025 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl540,844,998 - 40,867,023 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0545,469,290 - 45,491,210 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4541,577,651 - 41,590,456 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1541,576,728 - 41,590,474 (-)NCBI
Celera539,058,787 - 39,071,389 (-)NCBICelera
Cytogenetic Map5q21NCBI
Manea
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541121,735,550 - 21,761,750 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541121,729,085 - 21,763,684 (+)NCBIChiLan1.0ChiLan1.0
MANEA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25115,627,414 - 115,666,203 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16113,512,496 - 113,544,251 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0693,428,813 - 93,460,576 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1697,316,022 - 97,347,768 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl697,316,022 - 97,347,768 (+)Ensemblpanpan1.1panPan2
MANEA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11254,156,398 - 54,229,183 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1254,170,184 - 54,225,013 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1253,963,772 - 54,036,664 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01254,972,172 - 55,045,434 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1254,982,280 - 55,042,970 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11254,294,305 - 54,367,550 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01254,169,174 - 54,241,745 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01254,371,139 - 54,444,695 (+)NCBIUU_Cfam_GSD_1.0
Manea
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494688,721,181 - 88,752,631 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366991,975,362 - 2,006,932 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366991,975,391 - 2,006,816 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MANEA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl162,887,881 - 62,945,583 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1162,887,689 - 62,945,586 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2171,027,088 - 71,084,858 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MANEA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11320,496,677 - 20,529,201 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1320,496,686 - 20,530,819 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040196,752,522 - 196,783,748 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Manea
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248109,961,154 - 9,998,835 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MANEA
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1		 uncertain significance
GRCh37/hg19 6q15-16.3(chr6:92576950-104658245)x1 copy number loss See cases [RCV000446720] Chr6:92576950..104658245 [GRCh37]
Chr6:6q15-16.3		 pathogenic
GRCh37/hg19 6q16.1(chr6:95939436-96052357)x1 copy number loss See cases [RCV000446249] Chr6:95939436..96052357 [GRCh37]
Chr6:6q16.1		 likely benign
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q16.1-21(chr6:94202605-109878834)x1 copy number loss See cases [RCV000512470] Chr6:94202605..109878834 [GRCh37]
Chr6:6q16.1-21		 pathogenic
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1		 pathogenic
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3 copy number gain not provided [RCV000849950] Chr6:88783642..96282103 [GRCh37]
Chr6:6q15-16.1		 uncertain significance
NM_024641.4(MANEA):c.1264A>G (p.Thr422Ala) single nucleotide variant not specified [RCV004299799] Chr6:95606280 [GRCh38]
Chr6:96054156 [GRCh37]
Chr6:6q16.1		 uncertain significance
GRCh37/hg19 6q16.1(chr6:95956613-96263611)x1 copy number loss not provided [RCV001005833] Chr6:95956613..96263611 [GRCh37]
Chr6:6q16.1		 uncertain significance
GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1 copy number loss Microcephaly [RCV001251052] Chr6:96028232..97247130 [GRCh37]
Chr6:6q16.1		 likely pathogenic
GRCh37/hg19 6q15-16.3(chr6:92576950-104658245) copy number loss not specified [RCV002053599] Chr6:92576950..104658245 [GRCh37]
Chr6:6q15-16.3		 pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) copy number loss not specified [RCV002053598] Chr6:92054891..118329651 [GRCh37]
Chr6:6q15-22.2		 pathogenic
NM_024641.4(MANEA):c.1267G>C (p.Val423Leu) single nucleotide variant not specified [RCV004098865] Chr6:95606283 [GRCh38]
Chr6:96054159 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.1029A>T (p.Leu343Phe) single nucleotide variant not specified [RCV004099905] Chr6:95606045 [GRCh38]
Chr6:96053921 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.244A>C (p.Thr82Pro) single nucleotide variant not specified [RCV004157038] Chr6:95586683 [GRCh38]
Chr6:96034559 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.229A>C (p.Lys77Gln) single nucleotide variant not specified [RCV004093411] Chr6:95586668 [GRCh38]
Chr6:96034544 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.398C>G (p.Pro133Arg) single nucleotide variant not specified [RCV004174208] Chr6:95586837 [GRCh38]
Chr6:96034713 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.419C>T (p.Pro140Leu) single nucleotide variant not specified [RCV004245198] Chr6:95586858 [GRCh38]
Chr6:96034734 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.113C>T (p.Ala38Val) single nucleotide variant not specified [RCV004246615] Chr6:95586552 [GRCh38]
Chr6:96034428 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.862C>T (p.Arg288Trp) single nucleotide variant not specified [RCV004094095] Chr6:95605878 [GRCh38]
Chr6:96053754 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.701T>C (p.Met234Thr) single nucleotide variant not specified [RCV004179085] Chr6:95604873 [GRCh38]
Chr6:96052749 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.767C>T (p.Thr256Met) single nucleotide variant not specified [RCV004236246] Chr6:95605783 [GRCh38]
Chr6:96053659 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.875A>G (p.Asn292Ser) single nucleotide variant not specified [RCV004092361] Chr6:95605891 [GRCh38]
Chr6:96053767 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.100G>T (p.Ala34Ser) single nucleotide variant not specified [RCV004221415] Chr6:95586539 [GRCh38]
Chr6:96034415 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.835G>A (p.Ala279Thr) single nucleotide variant not specified [RCV004309190] Chr6:95605851 [GRCh38]
Chr6:96053727 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.365A>G (p.His122Arg) single nucleotide variant not specified [RCV004252411] Chr6:95586804 [GRCh38]
Chr6:96034680 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.233G>C (p.Ser78Thr) single nucleotide variant not specified [RCV004257697] Chr6:95586672 [GRCh38]
Chr6:96034548 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.502G>C (p.Val168Leu) single nucleotide variant not specified [RCV004259303] Chr6:95586941 [GRCh38]
Chr6:96034817 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.784C>T (p.Leu262Phe) single nucleotide variant not specified [RCV004251518] Chr6:95605800 [GRCh38]
Chr6:96053676 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.979A>G (p.Asn327Asp) single nucleotide variant not specified [RCV004363496] Chr6:95605995 [GRCh38]
Chr6:96053871 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.74G>A (p.Gly25Asp) single nucleotide variant not specified [RCV004346974] Chr6:95586513 [GRCh38]
Chr6:96034389 [GRCh37]
Chr6:6q16.1		 uncertain significance
GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1 copy number loss not provided [RCV003482928] Chr6:92468126..109410569 [GRCh37]
Chr6:6q15-21		 pathogenic
NM_024641.4(MANEA):c.1309G>C (p.Glu437Gln) single nucleotide variant not specified [RCV004415970] Chr6:95606325 [GRCh38]
Chr6:96054201 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.432C>G (p.His144Gln) single nucleotide variant not specified [RCV004415975] Chr6:95586871 [GRCh38]
Chr6:96034747 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.202A>G (p.Asn68Asp) single nucleotide variant not specified [RCV004415972] Chr6:95586641 [GRCh38]
Chr6:96034517 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.431A>T (p.His144Leu) single nucleotide variant not specified [RCV004415974] Chr6:95586870 [GRCh38]
Chr6:96034746 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.449T>C (p.Ile150Thr) single nucleotide variant not specified [RCV004415976] Chr6:95586888 [GRCh38]
Chr6:96034764 [GRCh37]
Chr6:6q16.1		 uncertain significance
GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3 copy number gain not specified [RCV003986668] Chr6:91677067..101879124 [GRCh37]
Chr6:6q15-16.3		 uncertain significance
NM_024641.4(MANEA):c.455C>T (p.Ser152Phe) single nucleotide variant not specified [RCV004415977] Chr6:95586894 [GRCh38]
Chr6:96034770 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.491G>A (p.Arg164Gln) single nucleotide variant not specified [RCV004415978] Chr6:95586930 [GRCh38]
Chr6:96034806 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.947G>C (p.Gly316Ala) single nucleotide variant not specified [RCV004415982] Chr6:95605963 [GRCh38]
Chr6:96053839 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.14G>A (p.Arg5Gln) single nucleotide variant not specified [RCV004415971] Chr6:95586453 [GRCh38]
Chr6:96034329 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.593G>A (p.Gly198Glu) single nucleotide variant not specified [RCV004415980] Chr6:95596785 [GRCh38]
Chr6:96044661 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.535G>T (p.Ala179Ser) single nucleotide variant not specified [RCV004415979] Chr6:95586974 [GRCh38]
Chr6:96034850 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.356A>T (p.Lys119Ile) single nucleotide variant not specified [RCV004415973] Chr6:95586795 [GRCh38]
Chr6:96034671 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.46A>G (p.Ile16Val) single nucleotide variant not specified [RCV004642727] Chr6:95586485 [GRCh38]
Chr6:96034361 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.668T>G (p.Ile223Arg) single nucleotide variant not specified [RCV004642728] Chr6:95604840 [GRCh38]
Chr6:96052716 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.1234G>C (p.Glu412Gln) single nucleotide variant not specified [RCV004642729] Chr6:95606250 [GRCh38]
Chr6:96054126 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.767C>G (p.Thr256Arg) single nucleotide variant not specified [RCV004642726] Chr6:95605783 [GRCh38]
Chr6:96053659 [GRCh37]
Chr6:6q16.1		 uncertain significance
NM_024641.4(MANEA):c.700A>G (p.Met234Val) single nucleotide variant not specified [RCV004642730] Chr6:95604872 [GRCh38]
Chr6:96052748 [GRCh37]
Chr6:6q16.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1133
Count of miRNA genes:665
Interacting mature miRNAs:738
Transcripts:ENST00000358812, ENST00000369293, ENST00000474553
Prediction methods:Microtar, 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
407286391GWAS935367_Hbody height QTL GWAS935367 (human)4e-43body height (VT:0001253)body height (CMO:0000106)69558617495586175Human
406961300GWAS610276_Hglycoprotein endo-alpha-1,2-mannosidase measurement QTL GWAS610276 (human)2e-1586glycoprotein endo-alpha-1,2-mannosidase measurement69560604695606047Human
406961302GWAS610278_Hglycoprotein endo-alpha-1,2-mannosidase measurement QTL GWAS610278 (human)2e-15glycoprotein endo-alpha-1,2-mannosidase measurement69558668495586685Human
406892488GWAS541464_Hglycoprotein endo-alpha-1,2-mannosidase measurement QTL GWAS541464 (human)3e-37glycoprotein endo-alpha-1,2-mannosidase measurement69558323595583236Human
1298426BFD3_HBody fluid distribution QTL 3 (human)2.790.01Body fluid distributionimpedance ratio684873647110873647Human


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1725 2350 6 623 1950 464 2270 7304 6471 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_024641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005267147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054356442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AJ577574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL671884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY048774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY048775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY372528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ018032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX481372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000358812   ⟹   ENSP00000351669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,577,535 - 95,609,452 (+)Ensembl
Ensembl Acc Id: ENST00000369293   ⟹   ENSP00000358299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,577,485 - 95,589,646 (+)Ensembl
Ensembl Acc Id: ENST00000474553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,588,222 - 95,606,023 (+)Ensembl
Ensembl Acc Id: ENST00000682076   ⟹   ENSP00000506766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,577,516 - 95,607,758 (+)Ensembl
Ensembl Acc Id: ENST00000682417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,603,485 - 95,609,447 (+)Ensembl
Ensembl Acc Id: ENST00000682663   ⟹   ENSP00000507267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,577,772 - 95,609,470 (+)Ensembl
Ensembl Acc Id: ENST00000683151   ⟹   ENSP00000507022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,577,529 - 95,609,458 (+)Ensembl
Ensembl Acc Id: ENST00000683172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,577,553 - 95,597,913 (+)Ensembl
Ensembl Acc Id: ENST00000684164
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,601,206 - 95,609,138 (+)Ensembl
Ensembl Acc Id: ENST00000684211   ⟹   ENSP00000507287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,577,791 - 95,589,072 (+)Ensembl
Ensembl Acc Id: ENST00000684753   ⟹   ENSP00000506887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl695,577,865 - 95,607,736 (+)Ensembl
RefSeq Acc Id: NM_024641   ⟹   NP_078917
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38695,577,535 - 95,609,452 (+)NCBI
GRCh37696,025,373 - 96,057,333 (+)NCBI
Build 36696,132,134 - 96,164,047 (+)NCBI Archive
HuRef693,458,650 - 93,490,603 (+)ENTREZGENE
CHM1_1696,287,324 - 96,319,327 (+)NCBI
T2T-CHM13v2.0696,748,485 - 96,780,392 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005267147   ⟹   XP_005267204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38695,578,223 - 95,609,452 (+)NCBI
GRCh37696,025,373 - 96,057,333 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054356442   ⟹   XP_054212417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0696,749,173 - 96,780,392 (+)NCBI
RefSeq Acc Id: NP_078917   ⟸   NM_024641
- UniProtKB: Q8WWX5 (UniProtKB/Swiss-Prot),   Q7Z3V7 (UniProtKB/Swiss-Prot),   Q70JE9 (UniProtKB/Swiss-Prot),   Q6MZV0 (UniProtKB/Swiss-Prot),   Q5SRJ0 (UniProtKB/Swiss-Prot),   A6H8M6 (UniProtKB/Swiss-Prot),   Q9H9D2 (UniProtKB/Swiss-Prot),   Q5SRI9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005267204   ⟸   XM_005267147
- Peptide Label: isoform X1
- UniProtKB: Q8WWX5 (UniProtKB/Swiss-Prot),   Q7Z3V7 (UniProtKB/Swiss-Prot),   Q70JE9 (UniProtKB/Swiss-Prot),   Q6MZV0 (UniProtKB/Swiss-Prot),   Q5SRJ0 (UniProtKB/Swiss-Prot),   A6H8M6 (UniProtKB/Swiss-Prot),   Q9H9D2 (UniProtKB/Swiss-Prot),   Q5SRI9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000358299   ⟸   ENST00000369293
Ensembl Acc Id: ENSP00000351669   ⟸   ENST00000358812
Ensembl Acc Id: ENSP00000507022   ⟸   ENST00000683151
Ensembl Acc Id: ENSP00000506766   ⟸   ENST00000682076
Ensembl Acc Id: ENSP00000507287   ⟸   ENST00000684211
Ensembl Acc Id: ENSP00000506887   ⟸   ENST00000684753
Ensembl Acc Id: ENSP00000507267   ⟸   ENST00000682663
RefSeq Acc Id: XP_054212417   ⟸   XM_054356442
- Peptide Label: isoform X1
- UniProtKB: Q8WWX5 (UniProtKB/Swiss-Prot),   Q7Z3V7 (UniProtKB/Swiss-Prot),   Q70JE9 (UniProtKB/Swiss-Prot),   Q6MZV0 (UniProtKB/Swiss-Prot),   Q5SRJ0 (UniProtKB/Swiss-Prot),   Q5SRI9 (UniProtKB/Swiss-Prot),   A6H8M6 (UniProtKB/Swiss-Prot),   Q9H9D2 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5SRI9-F1-model_v2 AlphaFold Q5SRI9 1-462 view protein structure

Promoters
RGD ID:7208723
Promoter ID:EPDNEW_H10107
Type:initiation region
Name:MANEA_1
Description:mannosidase endo-alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38695,577,536 - 95,577,596EPDNEW
RGD ID:6804433
Promoter ID:HG_KWN:54390
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:OTTHUMT00000043644,   UC003PON.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36696,131,876 - 96,132,432 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21072 AgrOrtholog
COSMIC MANEA COSMIC
Ensembl Genes ENSG00000172469 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358812 ENTREZGENE
  ENST00000358812.9 UniProtKB/Swiss-Prot
  ENST00000369293.6 UniProtKB/TrEMBL
  ENST00000682076.1 UniProtKB/TrEMBL
  ENST00000682663 ENTREZGENE
  ENST00000682663.1 UniProtKB/Swiss-Prot
  ENST00000683151.1 UniProtKB/TrEMBL
  ENST00000684211.1 UniProtKB/TrEMBL
  ENST00000684753.1 UniProtKB/Swiss-Prot
Gene3D-CATH Glycosidases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172469 GTEx
HGNC ID HGNC:21072 ENTREZGENE
Human Proteome Map MANEA Human Proteome Map
InterPro Glyco_Hydrolase_99 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot
KEGG Report hsa:79694 UniProtKB/Swiss-Prot
NCBI Gene 79694 ENTREZGENE
OMIM 612327 OMIM
PANTHER GLYCOPROTEIN ENDO-ALPHA-1,2-MANNOSIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13572 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_hydro_99 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134891001 PharmGKB
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot
UniProt A0A804HHU5_HUMAN UniProtKB/TrEMBL
  A0A804HID7_HUMAN UniProtKB/TrEMBL
  A6H8M6 ENTREZGENE
  MANEA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5SRJ0 ENTREZGENE
  Q6MZV0 ENTREZGENE
  Q70JE9 ENTREZGENE
  Q7Z3V7 ENTREZGENE
  Q8WWX5 ENTREZGENE
  Q9H9D2 ENTREZGENE
  X6R7A2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6H8M6 UniProtKB/Swiss-Prot
  Q5SRJ0 UniProtKB/Swiss-Prot
  Q6MZV0 UniProtKB/Swiss-Prot
  Q70JE9 UniProtKB/Swiss-Prot
  Q7Z3V7 UniProtKB/Swiss-Prot
  Q8WWX5 UniProtKB/Swiss-Prot
  Q9H9D2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 MANEA  mannosidase endo-alpha  MANEA  mannosidase, endo-alpha  Symbol and/or name change 5135510 APPROVED