AutismKB 2.0

Annotation Detail for MCFD2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MCFD2 ( DKFZp686G21263,F5F8D,LMAN1IP,SDNSF )
Gene Full Name: multiple coagulation factor deficiency 2
Band: 2p21
Quick LinksEntrez ID:90411; OMIM: 607788; Uniprot ID:MCFD2_HUMAN; ENSEMBL ID: ENSG00000180398; HGNC ID: 18451
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
34Phosphoserine(ATM)HMM predict
38Phosphoserine(IKK)HMM predict
82Phosphotyrosine(INSR)HMM predict
106Phosphoserine(CK2)HMM predict
135Phosphotyrosine(INSR)HMM predict
135SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_139279
  • Location:chr2 46982518-46996452
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46999512 46999762 250 3185
CTCF CD4SISSRdata 46999512 46999762 250 3185
ER E2-MCF7GSE14664 47006526 47006568 42 10095
FOXA1 MCF7GSE15244 46996714 46997239 525 524
GABP k562GSE8489 46996918 46997239 321 626
H3K4me2 HCT116GSE10453 46996918 46997239 321 626
H3K4me3 colorectalcancer 46996918 46997239 321 626
H3ac HepG2E 46996685 46997239 554 510
H3ac HepG2E 46997590 46998900 1310 1793
Oct4 hESGSE17917 46996277 46996672 395 22
Rb GrowingGSE19898 46996523 46996995 472 307
Rb SenescentGSE19898 46996487 46997002 515 292
Rb shRbSenescenceGSE19898 46996510 46996745 235 175
TAF k562GSE8489 46996878 46997239 361 606
TAF k562GSE8489 46997590 46997773 183 1229
TFAP2C MCF7GSE21234 46996524 46997046 522 333
hScc1 BcellGSE12603 46996206 46996773 567 37
p130 QuiescentGSE19898 46996544 46996815 271 227
p130 SenescentGSE19898 46996915 46997163 248 587
p130 shRbQuiescentGSE19898 46996638 46997160 522 447
p130 shRbSenescentGSE19898 46996202 46996920 718 109
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46969734 46969945 211 12679
CTCF CD4SISSRdata 46969734 46969945 211 12679
CTCF G2GSE9613 46963122 46963470 348 19223
CTCF G2GSE9613 46969264 46969910 646 12932
Myc K562GSE19551 46982291 46982573 282 87
hScc1 BcellGSE12603 46969303 46969910 607 12912
hScc1 CdLSGSE12603 46969339 46969910 571 12894
hScc1 G2GSE9613 46968947 46969910 963 13090
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46990511 46991049 538 0
CTCF G2GSE9613 46996058 46996647 589 0
H3K4me3 colorectalcancer 46995181 46995896 715 0
H3ac HepG2E 46994094 46996132 2038 0
Oct1 HelaGSE14283 46994344 46994373 29 0
Rb SenescentGSE19898 46996217 46996438 221 0
TAF k562GSE8489 46994628 46995896 1268 0
USF1 HepG2E 46994956 46995974 1018 0
p130 QuiescentGSE19898 46996135 46996389 254 0
Validated miRNA targets Top
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
14251 mRNA chr2 47038064 47047468 160 mRNA MCFD2 chr2 47040667 47054600Sense/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