AutismKB 2.0

Annotation Detail for CACNA2D2


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Basic Information Top
Gene Symbol:CACNA2D2 ( CACNA2D,KIAA0558,LUAC11.1 )
Gene Full Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2
Band: 3p21.31
Quick LinksEntrez ID:9254; OMIM: 607082; Uniprot ID:CA2D2_HUMAN; ENSEMBL ID: ENSG00000007402; HGNC ID: 1400
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
301MIDAS-like motif.
386N-linked (GlcNAc...).
418N-linked (GlcNAc...) (Potential).
507N-linked (GlcNAc...) (Potential).
540N-linked (GlcNAc...) (Potential).
861N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001005505
  • Location:chr3 50375235-50515895
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50531907 50532331 424 16224
CTCF CD4SISSRdata 50531907 50532331 424 16224
CTCF HelaGSE12889 50531954 50532311 357 16237
CTCF JurkatGSE12889 50531968 50532347 379 16262
CTCF G2GSE9613 50515979 50516717 738 453
CTCF G2GSE9613 50517781 50518065 284 2028
CTCF G2GSE9613 50521421 50521813 392 5722
CTCF G2GSE9613 50526935 50527341 406 11243
CTCF G2GSE9613 50528705 50528884 179 12899
CTCF G2GSE9613 50531377 50531752 375 15669
CTCF G2GSE9613 50533567 50534321 754 18049
NRSF mAbJurkat 50533604 50535410 1806 18612
hScc1 BcellGSE12603 50515661 50516440 779 155
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50400942 50401112 170 0
CTCF CD4GSE12889 50448574 50448853 279 0
CTCF CD4SISSRdata 50400942 50401112 170 0
CTCF CD4SISSRdata 50448574 50448853 279 0
CTCF HelaGSE12889 50448534 50448866 332 0
CTCF JurkatGSE12889 50440605 50440724 119 0
CTCF JurkatGSE12889 50448538 50448834 296 0
CTCF G2GSE9613 50376979 50377351 372 0
CTCF G2GSE9613 50377777 50378419 642 0
CTCF G2GSE9613 50378792 50379092 300 0
CTCF G2GSE9613 50381969 50382667 698 0
CTCF G2GSE9613 50383099 50383721 622 0
CTCF G2GSE9613 50386999 50388574 1575 0
CTCF G2GSE9613 50390915 50391298 383 0
CTCF G2GSE9613 50391553 50392251 698 0
CTCF G2GSE9613 50398047 50398354 307 0
CTCF G2GSE9613 50399200 50399732 532 0
CTCF G2GSE9613 50400182 50401183 1001 0
CTCF G2GSE9613 50402652 50402839 187 0
CTCF G2GSE9613 50404517 50405076 559 0
CTCF G2GSE9613 50407376 50407838 462 0
CTCF G2GSE9613 50411781 50412351 570 0
CTCF G2GSE9613 50412745 50413147 402 0
CTCF G2GSE9613 50417697 50417988 291 0
CTCF G2GSE9613 50420888 50421424 536 0
CTCF G2GSE9613 50425352 50425560 208 0
CTCF G2GSE9613 50427459 50427821 362 0
CTCF G2GSE9613 50432052 50432418 366 0
CTCF G2GSE9613 50433888 50434029 141 0
CTCF G2GSE9613 50435277 50436161 884 0
CTCF G2GSE9613 50436664 50437296 632 0
CTCF G2GSE9613 50444456 50445138 682 0
CTCF G2GSE9613 50446215 50446577 362 0
CTCF G2GSE9613 50447119 50448879 1760 0
CTCF G2GSE9613 50450193 50450657 464 0
CTCF G2GSE9613 50452468 50452795 327 0
CTCF G2GSE9613 50453254 50453532 278 0
CTCF G2GSE9613 50455192 50455546 354 0
CTCF G2GSE9613 50455810 50456135 325 0
CTCF G2GSE9613 50457164 50457320 156 0
CTCF G2GSE9613 50459343 50460231 888 0
CTCF G2GSE9613 50462149 50462800 651 0
CTCF G2GSE9613 50467183 50467490 307 0
CTCF G2GSE9613 50468882 50469030 148 0
CTCF G2GSE9613 50475511 50475709 198 0
CTCF G2GSE9613 50476287 50476975 688 0
CTCF G2GSE9613 50479270 50480561 1291 0
CTCF G2GSE9613 50486130 50486429 299 0
CTCF G2GSE9613 50487242 50489328 2086 0
CTCF G2GSE9613 50496736 50497669 933 0
CTCF G2GSE9613 50500466 50500750 284 0
CTCF G2GSE9613 50501739 50502542 803 0
CTCF G2GSE9613 50503900 50504736 836 0
CTCF G2GSE9613 50505506 50506407 901 0
CTCF G2GSE9613 50507688 50507976 288 0
CTCF G2GSE9613 50508899 50509044 145 0
CTCF G2GSE9613 50511871 50513353 1482 0
CTCF G2GSE9613 50514112 50514791 679 0
ER MCF7GSE19013 50387497 50388032 535 0
ER MCF7GSE19013 50435736 50436436 700 0
ER MCF7GSE19013 50437000 50437431 431 0
FOXA1 MCF7GSE15244 50435643 50436632 989 0
FOXA1 MCF7GSE15244 50457562 50459280 1718 0
Fos K562GSE19551 50505541 50506048 507 0
FoxA1 MCF7MACSdata 50435974 50436301 327 0
FoxA1 MCF7MACSdata 50458216 50458644 428 0
H3K27me3 colorectalcancer 50513631 50514599 968 0
NRSF JurkatGSE13047 50415822 50419657 3835 0
NRSF mAbJurkat 50408602 50409194 592 0
NRSF mAbJurkat 50413147 50414103 956 0
NRSF mAbJurkat 50414457 50418849 4392 0
NRSF mAbJurkat 50419223 50421890 2667 0
NRSF mAbJurkat 50424020 50424873 853 0
NRSF-mono JurkatQuESTdata 50415234 50419422 4188 0
NRSF-mono JurkatQuESTdata 50472232 50472514 282 0
NRSF-poly JurkatQuESTdata 50416575 50419759 3184 0
NRSF-poly JurkatQuESTdata 50472233 50472520 287 0
Nanog hESGSE18292 50508360 50508620 260 0
Oct1 H2O2-HelaGSE14283 50468917 50468945 28 0
Oct1 HelaGSE14283 50445119 50445209 90 0
Oct1 HelaGSE14283 50459716 50459744 28 0
RNAII Tamoxifen-MCF7GSE14664 50444736 50444791 55 0
TFAP2C MCF7GSE21234 50377450 50378043 593 0
TFAP2C MCF7GSE21234 50403363 50403881 518 0
TFAP2C MCF7GSE21234 50405578 50406168 590 0
TFAP2C MCF7GSE21234 50408992 50409478 486 0
TFAP2C MCF7GSE21234 50435620 50436415 795 0
TFAP2C MCF7GSE21234 50440185 50440786 601 0
TFAP2C MCF7GSE21234 50453884 50454211 327 0
TFAP2C MCF7GSE21234 50476588 50476897 309 0
hScc1 BcellGSE12603 50410549 50410798 249 0
hScc1 BcellGSE12603 50420888 50421171 283 0
hScc1 BcellGSE12603 50435530 50435968 438 0
hScc1 BcellGSE12603 50446388 50446792 404 0
hScc1 BcellGSE12603 50448237 50448843 606 0
hScc1 BcellGSE12603 50460955 50461413 458 0
hScc1 BcellGSE12603 50488186 50488923 737 0
hScc1 BcellGSE12603 50496700 50497137 437 0
Validated miRNA targets Top
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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