AutismKB 2.0

Annotation Detail for C2orf3


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Basic Information Top
Gene Symbol:C2orf3 ( DNABF,GCF,TCF9 )
Gene Full Name: chromosome 2 open reading frame 3
Band: 2p11.2-p11.1
Quick LinksEntrez ID:6936; OMIM: 189901; Uniprot ID:GCF_HUMAN; ENSEMBL ID: ENSG00000005436; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
16Phosphoserine.
17Phosphoserine.
19Phosphoserine.
40Phosphoserine.
96Phosphoserine.
97Phosphothreonine.
119Phosphoserine.
129Phosphoserine (By similarity).
174Phosphoserine.
180Phosphoserine.
213Phosphothreonine.
214Phosphoserine.
217Phosphoserine.
419Phosphoserine.
429Phosphoserine.
430Phosphoserine.
Location(AA) Modifications Resource
16Phosphoserine.Swiss-Prot 53.0
17Phosphoserine.Swiss-Prot 53.0
19Phosphoserine.Swiss-Prot 53.0
96Phosphoserine.Swiss-Prot 53.0
96PhosphoserinePhospho.ELM 6.0
97Phosphothreonine.Swiss-Prot 53.0
97PhosphothreoninePhospho.ELM 6.0
129Phosphoserine (By similarity).Swiss-Prot 53.0
180PhosphoserinePhospho.ELM 6.0
180Phosphoserine.Swiss-Prot 53.0
429PhosphoserinePhospho.ELM 6.0
429Phosphoserine.Swiss-Prot 53.0
430Phosphoserine.Swiss-Prot 53.0
430PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
17Phosphoserine(ATM)HMM predict
25Phosphoserine(IKK)HMM predict
67MethylarginineHMM predict
69MethylarginineHMM predict
78Phosphothreonine(PKA)HMM predict
78Phosphothreonine(PKC)HMM predict
88Phosphoserine(CK1)HMM predict
96Phosphoserine(CK2)HMM predict
109Phosphoserine(CK2)HMM predict
109Phosphoserine(CK1)HMM predict
120Phosphoserine(CK1)HMM predict
121Phosphoserine(CK1)HMM predict
122Phosphoserine(CK1)HMM predict
129Phosphoserine(CK1)HMM predict
156Phosphotyrosine(INSR)HMM predict
156Phosphotyrosine(Jak)HMM predict
180Phosphoserine(CK2)HMM predict
197Phosphothreonine(PKC)HMM predict
214Phosphoserine(CK1)HMM predict
214Phosphoserine(CK2)HMM predict
217Phosphoserine(CK2)HMM predict
217Phosphoserine(ATM)HMM predict
312Phosphoserine(CK1)HMM predict
313Phosphoserine(CK1)HMM predict
387Phosphoserine(CK1)HMM predict
387Phosphoserine(IKK)HMM predict
410Phosphothreonine(PKC)HMM predict
430Phosphoserine(CK2)HMM predict
430PhosphoserineHMM predict
486Phosphotyrosine(EGFR)HMM predict
486Phosphotyrosine(Syk)HMM predict
535Phosphoserine(ATM)HMM predict
539Phosphoserine(CK1)HMM predict
545Phosphoserine(CK1)HMM predict
555N-linkedHMM predict
576Phosphoserine(IKK)HMM predict
580O-linkedHMM predict
593Phosphoserine(IKK)HMM predict
600Phosphoserine(CK1)HMM predict
634N-linkedHMM predict
637Phosphoserine(CDC2)HMM predict
688N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003203
  • Location:chr2 75742801-75791829
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 75810494 75810942 448 18889
Nanog hESGSE18292 75810621 75810879 258 18921
Oct1 HelaGSE14283 75807780 75807807 27 15964
Sox2 hESGSE18292 75810544 75810859 315 18872
hScc1 CdLSGSE12603 75810494 75810942 448 18889
hScc1 G2GSE9613 75810494 75810942 448 18889
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 75757990 75758235 245 0
CTCF CD4SISSRdata 75757990 75758235 245 0
CTCF G2GSE9613 75791147 75791604 457 0
GABP k562GSE8489 75790470 75791147 677 0
H3K4me3 colorectalcancer 75790470 75790655 185 0
H3ac HepG2E 75790470 75791268 798 0
Oct1 H2O2-HelaGSE14283 75759056 75759097 41 0
Oct1 H2O2-HelaGSE14283 75784296 75784325 29 0
Oct1 H2O2-HelaGSE14283 75787110 75787141 31 0
Oct1 HelaGSE14283 75759056 75759097 41 0
Oct1 HelaGSE14283 75784296 75784325 29 0
Oct1 HelaGSE14283 75787110 75787139 29 0
PHF8 HeLaGSE20725 75790900 75791970 1070 0
PHF8 Hs68plusFBSGSE20725 75790810 75792177 1367 0
TAF k562GSE8489 75790470 75791118 648 0
hScc1 BcellGSE12603 75791118 75791711 593 0
p130 SenescentGSE19898 75758002 75758333 331 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
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
14509 mRNA chr2 75800341 75801685 737 mRNA C2orf3 chr2 75800948 75849977Sense/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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