AutismKB 2.0

Annotation Detail for MAN2A1


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Basic Information Top
Gene Symbol:MAN2A1 ( GOLIM7,MANA2,MANII )
Gene Full Name: mannosidase, alpha, class 2A, member 1
Band: 5q21.3
Quick LinksEntrez ID:4124; OMIM: 154582; Uniprot ID:MA2A1_HUMAN; ENSEMBL ID: ENSG00000112893; HGNC ID: 6824
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
78N-linked (GlcNAc...).
80Phosphoserine (By similarity).
82Phosphoserine (By similarity).
93N-linked (GlcNAc...) (Potential).
1125N-linked (GlcNAc...).
Location(AA) Modifications Resource
78N-linked (GlcNAc...).Swiss-Prot 53.0
80Phosphoserine (By similarity).Swiss-Prot 53.0
82Phosphoserine (By similarity).Swiss-Prot 53.0
93N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1125N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
42Phosphoserine(IKK)HMM predict
90Phosphoserine(ATM)HMM predict
95Phosphoserine(ATM)HMM predict
110Phosphoserine(ATM)HMM predict
354SulfotyrosineHMM predict
432SulfotyrosineHMM predict
451Phosphoserine(ATM)HMM predict
496Phosphotyrosine(Syk)HMM predict
503SulfotyrosineHMM predict
649Phosphotyrosine(Jak)HMM predict
662Phosphoserine(CK1)HMM predict
670Phosphoserine(CDC2)HMM predict
670Phosphoserine(MAPK)HMM predict
726Phosphoserine(CK1)HMM predict
754Phosphothreonine(CK2)HMM predict
819Phosphotyrosine(Jak)HMM predict
835Phosphotyrosine(EGFR)HMM predict
906Phosphothreonine(PKC)HMM predict
920Phosphothreonine(PKC)HMM predict
992Phosphothreonine(PKC)HMM predict
992Phosphothreonine(CK2)HMM predict
1026Phosphoserine(CDC2)HMM predict
1110Phosphothreonine(MAPK)HMM predict
1119Phosphoserine(IKK)HMM predict
1119Phosphoserine(ATM)HMM predict
1125N-linkedHMM predict
1130N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002372
  • Location:chr5 109053054-109231327
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 109052508 109053303 795 149
FoxA1 MCF7MACSdata 109052095 109052228 133 893
p63 keratinocytesGSE17611 109045216 109046351 1135 7271
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb SenescentGSE19898 109240981 109241163 182 9745
hScc1 BcellGSE12603 109248801 109249095 294 17621
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 109053667 109054091 424 0
CTCF G2GSE9613 109054369 109055086 717 0
ER MCF7GSE19013 109078173 109078602 429 0
FoxA1 MCF7MACSdata 109071161 109071364 203 0
FoxA1 MCF7MACSdata 109078614 109078811 197 0
Gata2 K562GSE18868 109067259 109067885 626 0
H3K4me2 HCT116GSE10453 109054663 109055050 387 0
H3K4me3 colorectalcancer 109054467 109055248 781 0
H3ac HepG2E 109054540 109055212 672 0
Myc K562GSE19551 109107392 109107800 408 0
Myc K562GSE19551 109169573 109169923 350 0
Nanog hESGSE18292 109104533 109106072 1539 0
Nanog hESGSE18292 109201570 109202214 644 0
Oct1 HelaGSE14283 109063543 109063580 37 0
PHF8 HeLaGSE20725 109052385 109054299 1914 0
Sox2 hESGSE18292 109105109 109105519 410 0
TFAP2C MCF7GSE21234 109057963 109058316 353 0
hScc1 BcellGSE12603 109052508 109053731 1223 0
hScc1 BcellGSE12603 109054283 109055113 830 0
hScc1 CdLSGSE12603 109052508 109053848 1340 0
hScc1 CdLSGSE12603 109054369 109055190 821 0
hScc1 G2GSE9613 109053667 109055050 1383 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
329 Unknown MicroArray miR-124 MAN2A1 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000112893 G1-to-S transition n_a n_a "epithelium, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia"
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018