AutismKB 2.0

Annotation Detail for FBLN2


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Basic Information Top
Gene Symbol:FBLN2 ( - )
Gene Full Name: fibulin 2
Band: 3p25.1
Quick LinksEntrez ID:2199; OMIM: 135821; Uniprot ID:FBLN2_HUMAN; ENSEMBL ID: ENSG00000163520; HGNC ID: 3601
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
180N-linked (GlcNAc...) (Potential).
277Phosphoserine.
507N-linked (GlcNAc...) (Potential).
1035N-linked (GlcNAc...).
Location(AA) Modifications Resource
180N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
507N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1035N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
146Phosphotyrosine(Abl)HMM predict
180N-linkedHMM predict
182Phosphoserine(CK2)HMM predict
193Phosphotyrosine(SRC)HMM predict
193Phosphotyrosine(Syk)HMM predict
197SulfotyrosineHMM predict
236Phosphoserine(ATM)HMM predict
274Phosphothreonine(PKC)HMM predict
274Phosphothreonine(PKA)HMM predict
277Phosphoserine(CK2)HMM predict
310O-linkedHMM predict
347Phosphothreonine(PKC)HMM predict
376Phosphoserine(IKK)HMM predict
376Phosphoserine(CDC2)HMM predict
384Phosphoserine(CDC2)HMM predict
428Phosphoserine(CK1)HMM predict
433Phosphoserine(CDK)HMM predict
534Phosphoserine(IKK)HMM predict
578Phosphoserine(PKA)HMM predict
578Phosphoserine(IKK)HMM predict
578Phosphoserine(PKG)HMM predict
578O-linkedHMM predict
578Phosphoserine(PKB)HMM predict
666Phosphoserine(ATM)HMM predict
666Phosphoserine(CK1)HMM predict
816Phosphoserine(IKK)HMM predict
816Phosphoserine(CK1)HMM predict
1014Phosphotyrosine(Syk)HMM predict
1035N-linkedHMM predict
1060Phosphotyrosine(Abl)HMM predict
1082Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001004019
  • Location:chr3 13565624-13654921
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 13552660 13554249 1589 12170
CTCF G2GSE9613 13549821 13549991 170 15719
CTCF G2GSE9613 13553347 13553718 371 12092
CTCF G2GSE9613 13555410 13555598 188 10121
CTCF G2GSE9613 13562433 13562807 374 3005
CTCF G2GSE9613 13563240 13563674 434 2168
ER MCF7GSE19013 13554008 13554763 755 11239
FOXA1 MCF7GSE15244 13554391 13554714 323 11072
Myc K562GSE19551 13563194 13563847 653 2104
Oct1 H2O2-HelaGSE14283 13565117 13565158 41 487
Oct1 HelaGSE14283 13565119 13565157 38 487
RARG MCF7GSE15244 13549991 13550272 281 15493
RARG MCF7GSE15244 13554391 13554777 386 11041
TFAP2C MCF7GSE21234 13548974 13549687 713 16294
TFAP2C MCF7GSE21234 13549971 13551186 1215 15046
TFAP2C MCF7GSE21234 13554181 13555524 1343 10772
TFAP2C MCF7GSE21234 13555645 13556512 867 9546
TFAP2C MCF7GSE21234 13564383 13564751 368 1058
hScc1 BcellGSE12603 13553457 13553718 261 12037
hScc1 G2GSE9613 13553457 13553718 261 12037
p63 keratinocytesGSE17611 13564153 13565098 945 999
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 13674357 13674714 357 19614
CTCF CD4SISSRdata 13674357 13674714 357 19614
CTCF G2GSE9613 13655805 13656238 433 1100
CTCF G2GSE9613 13662208 13662924 716 7645
CTCF G2GSE9613 13664596 13665392 796 10073
CTCF G2GSE9613 13666694 13667146 452 11999
CTCF G2GSE9613 13669023 13669448 425 14314
CTCF G2GSE9613 13670094 13670415 321 15333
CTCF G2GSE9613 13671073 13672139 1066 16685
CTCF G2GSE9613 13674094 13675025 931 19638
ER MCF7GSE19013 13669183 13669723 540 14532
Rb SenescentGSE19898 13666792 13667245 453 12097
TFAP2C MCF7GSE21234 13669189 13669809 620 14578
hScc1 BcellGSE12603 13664217 13665126 909 9750
hScc1 BcellGSE12603 13666694 13667146 452 11999
hScc1 BcellGSE12603 13669990 13670340 350 15244
hScc1 BcellGSE12603 13671499 13672421 922 17039
hScc1 BcellGSE12603 13674232 13674774 542 19582
hScc1 CdLSGSE12603 13664558 13665392 834 10054
hScc1 CdLSGSE12603 13666694 13667146 452 11999
hScc1 CdLSGSE12603 13671694 13672139 445 16995
hScc1 CdLSGSE12603 13674058 13674774 716 19495
hScc1 G2GSE9613 13664217 13665392 1175 9883
hScc1 G2GSE9613 13666694 13667146 452 11999
hScc1 G2GSE9613 13674094 13675373 1279 19812
p130 SenescentGSE19898 13671024 13671288 264 16235
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 13564503 13567063 2560 0
CTCF G2GSE9613 13569556 13569785 229 0
CTCF G2GSE9613 13574420 13574674 254 0
CTCF G2GSE9613 13580145 13580403 258 0
CTCF G2GSE9613 13581518 13581804 286 0
CTCF G2GSE9613 13582711 13583158 447 0
CTCF G2GSE9613 13584776 13585242 466 0
CTCF G2GSE9613 13586211 13588416 2205 0
CTCF G2GSE9613 13589034 13589377 343 0
CTCF G2GSE9613 13590901 13591284 383 0
CTCF G2GSE9613 13593827 13594367 540 0
CTCF G2GSE9613 13598573 13599037 464 0
CTCF G2GSE9613 13599915 13600267 352 0
CTCF G2GSE9613 13601228 13601657 429 0
CTCF G2GSE9613 13611011 13611957 946 0
CTCF G2GSE9613 13615166 13615387 221 0
CTCF G2GSE9613 13624826 13625216 390 0
CTCF G2GSE9613 13627075 13627362 287 0
CTCF G2GSE9613 13632721 13633163 442 0
CTCF G2GSE9613 13635720 13636118 398 0
CTCF G2GSE9613 13637219 13637521 302 0
CTCF G2GSE9613 13637956 13638311 355 0
CTCF G2GSE9613 13641060 13641809 749 0
CTCF G2GSE9613 13644161 13644299 138 0
CTCF G2GSE9613 13645040 13645464 424 0
CTCF G2GSE9613 13646547 13647295 748 0
CTCF G2GSE9613 13650859 13651156 297 0
CTCF G2GSE9613 13652371 13652547 176 0
CTCF G2GSE9613 13653090 13653564 474 0
FOXA1 MCF7GSE15244 13616018 13616467 449 0
Fos K562GSE19551 13591286 13591819 533 0
Nanog hESGSE18292 13603980 13604425 445 0
Rb GrowingGSE19898 13611219 13611405 186 0
Rb QuiescentGSE19898 13599693 13599897 204 0
TFAP2C MCF7GSE21234 13568682 13570166 1484 0
TFAP2C MCF7GSE21234 13624366 13625144 778 0
hScc1 BcellGSE12603 13565331 13566185 854 0
hScc1 BcellGSE12603 13584837 13585167 330 0
hScc1 BcellGSE12603 13599294 13600318 1024 0
hScc1 G2GSE9613 13586424 13588375 1951 0
hScc1 G2GSE9613 13598573 13598966 393 0
p63 keratinocytesGSE17611 13639259 13640491 1232 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
150 Unknown MicroArray miR-1 FBLN2 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000163520 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
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


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