AutismKB 2.0

Annotation Detail for ACVR2A


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Basic Information Top
Gene Symbol:ACVR2A ( ACTRII,ACVR2 )
Gene Full Name: activin A receptor, type IIA
Band: 2q22.3-q23.1
Quick LinksEntrez ID:92; OMIM: 102581; Uniprot ID:AVR2A_HUMAN; ENSEMBL ID: ENSG00000121989; HGNC ID: 173
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
43N-linked (GlcNAc...) (Potential).
66N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
43N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
66N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
27Phosphothreonine(PKC)HMM predict
43N-linkedHMM predict
105S-palmitoylHMM predict
116Phosphotyrosine(Jak)HMM predict
126O-linkedHMM predict
127O-linkedHMM predict
131Phosphothreonine(CDC2)HMM predict
131Phosphothreonine(CDK)HMM predict
131Phosphothreonine(MAPK)HMM predict
131O-linkedHMM predict
175O-linkedHMM predict
175O-linkedHMM predict
184O-linkedHMM predict
233Phosphotyrosine(Syk)HMM predict
257Phosphothreonine(PKC)HMM predict
333N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001616
  • Location:chr2 148319039-148404861
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 148317844 148318818 974 709
H3K4me3 colorectalcancer 148317558 148317879 321 1321
Oct1 HelaGSE14283 148299546 148299576 30 19479
PHF8 HeLaGSE20725 148317654 148319123 1469 651
Rb SenescentGSE19898 148317984 148318495 511 800
hScc1 BcellGSE12603 148317730 148318771 1041 789
p130 SenescentGSE19898 148317827 148318437 610 908
p130 G0GSE7516 148317521 148318225 704 1167
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 148384920 148385390 470 0
CTCF CD4SISSRdata 148384920 148385390 470 0
ER E2-MCF7GSE14664 148366952 148367034 82 0
GABP k562GSE8489 148319556 148321368 1812 0
GABP k562GSE8489 148354731 148355189 458 0
H3K4me2 HCT116GSE10453 148319442 148319879 437 0
H3K4me3 colorectalcancer 148319343 148321217 1874 0
H3ac HepG2E 148318818 148321136 2318 0
Oct1 H2O2-HelaGSE14283 148333112 148333151 39 0
Oct1 H2O2-HelaGSE14283 148341684 148341712 28 0
Oct1 HelaGSE14283 148333112 148333149 37 0
Oct1 HelaGSE14283 148341683 148341713 30 0
Oct1 HelaGSE14283 148349622 148349667 45 0
Oct1 HelaGSE14283 148349697 148349753 56 0
TAF HelaGSE8489 148320176 148320807 631 0
TAF k562GSE8489 148354840 148355189 349 0
hScc1 BcellGSE12603 148384815 148385338 523 0
hScc1 CdLSGSE12603 148384743 148385445 702 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 19342382
hsa-let-7a hsa-let-7a-2 11 19342382
hsa-let-7a hsa-let-7a-3 22 19342382
hsa-let-7a hsa-let-7a-1 9 20216554
hsa-let-7a hsa-let-7a-2 11 20216554
hsa-let-7a hsa-let-7a-3 22 20216554
hsa-let-7a* hsa-let-7a-1 9 19342382
hsa-let-7a* hsa-let-7a-3 22 19342382
hsa-let-7a* hsa-let-7a-1 9 20216554
hsa-let-7a* hsa-let-7a-3 22 20216554
hsa-let-7b hsa-let-7b 22 19342382
hsa-let-7b hsa-let-7b 22 20216554
hsa-let-7b* hsa-let-7b 22 19342382
hsa-let-7b* hsa-let-7b 22 20216554
hsa-let-7c hsa-let-7c 21 19342382
hsa-let-7c hsa-let-7c 21 20216554
hsa-let-7c* hsa-let-7c 21 19342382
hsa-let-7c* hsa-let-7c 21 20216554
hsa-let-7d hsa-let-7d 9 19342382
hsa-let-7d hsa-let-7d 9 20216554
hsa-let-7d* hsa-let-7d 9 19342382
hsa-let-7d* hsa-let-7d 9 20216554
hsa-let-7e hsa-let-7e 19 19342382
hsa-let-7e hsa-let-7e 19 20216554
hsa-let-7e* hsa-let-7e 19 19342382
hsa-let-7e* hsa-let-7e 19 20216554
hsa-let-7f hsa-let-7f-1 9 19342382
hsa-let-7f hsa-let-7f-2 X 19342382
hsa-let-7f hsa-let-7f-1 9 20216554
hsa-let-7f hsa-let-7f-2 X 20216554
hsa-let-7f-1* hsa-let-7f-1 9 19342382
hsa-let-7f-1* hsa-let-7f-1 9 20216554
hsa-let-7f-2* hsa-let-7f-2 X 19342382
hsa-let-7f-2* hsa-let-7f-2 X 20216554
hsa-let-7g hsa-let-7g 3 19342382
hsa-let-7g hsa-let-7g 3 20216554
hsa-let-7g* hsa-let-7g 3 19342382
hsa-let-7g* hsa-let-7g 3 20216554
hsa-let-7i hsa-let-7i 12 19342382
hsa-let-7i hsa-let-7i 12 20216554
hsa-let-7i* hsa-let-7i 12 19342382
hsa-let-7i* hsa-let-7i 12 20216554
hsa-miR-125b hsa-mir-125b-1 11 20216554
hsa-miR-125b hsa-mir-125b-2 21 20216554
hsa-miR-126 hsa-mir-126 9 20216554
hsa-miR-126* hsa-mir-126 9 20216554
hsa-miR-15a hsa-mir-15a 13 17728715
hsa-miR-15a hsa-mir-15a 13 20216554
hsa-miR-15a* hsa-mir-15a 13 17728715
hsa-miR-15a* hsa-mir-15a 13 20216554
hsa-miR-15b hsa-mir-15b 3 17728715
hsa-miR-15b hsa-mir-15b 3 20216554
hsa-miR-15b* hsa-mir-15b 3 17728715
hsa-miR-15b* hsa-mir-15b 3 20216554
hsa-miR-16 hsa-mir-16-1 13 17728715
hsa-miR-16 hsa-mir-16-2 3 17728715
hsa-miR-16 hsa-mir-16-1 13 20216554
hsa-miR-16 hsa-mir-16-2 3 20216554
hsa-miR-203 hsa-mir-203 14 20216554
hsa-miR-21 hsa-mir-21 17 20216554
hsa-miR-21* hsa-mir-21 17 20216554
hsa-miR-216a hsa-mir-216a 2 20216554
hsa-miR-217 hsa-mir-217 2 20216554
hsa-miR-23b hsa-mir-23b 9 20216554
hsa-miR-23b* hsa-mir-23b 9 20216554
hsa-miR-26a hsa-mir-26a-1 3 19342382
hsa-miR-26a hsa-mir-26a-2 12 19342382
hsa-miR-26a-1* hsa-mir-26a-1 3 19342382
hsa-miR-26a-2* hsa-mir-26a-2 12 19342382
hsa-miR-26b hsa-mir-26b 2 19342382
hsa-miR-26b* hsa-mir-26b 2 19342382
hsa-miR-27b hsa-mir-27b 9 19342382
hsa-miR-27b* hsa-mir-27b 9 19342382
hsa-miR-29a hsa-mir-29a 7 19342382
hsa-miR-29a* hsa-mir-29a 7 19342382
hsa-miR-29b hsa-mir-29b-1 7 19342382
hsa-miR-29b hsa-mir-29b-2 1 19342382
hsa-miR-29b-1* hsa-mir-29b-1 7 19342382
hsa-miR-29b-2* hsa-mir-29b-2 1 19342382
hsa-miR-29c hsa-mir-29c 1 19342382
hsa-miR-29c* hsa-mir-29c 1 19342382
hsa-miR-324-5p hsa-mir-324 17 20216554
hsa-miR-326 hsa-mir-326 11 20216554
hsa-miR-372 hsa-mir-372 19 20216554
hsa-miR-373 hsa-mir-373 19 20216554
hsa-miR-373* hsa-mir-373 19 20216554
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
15102 mRNA ACVR2A chr2 148436303 148519242 110 EST chr2 148490715 148494257Sense/Antisense (SA) pairs

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


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