AutismKB 2.0

Annotation Detail for OCA2


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Basic Information Top
Gene Symbol:OCA2 ( BEY,BEY1,BEY2,BOCA,D15S12,EYCL,EYCL2,EYCL3,HCL3,P,PED,SHEP1 )
Gene Full Name: oculocutaneous albinism II
Band: 15q12-q13.1
Quick LinksEntrez ID:4948; OMIM: 611409; Uniprot ID:P_HUMAN; ENSEMBL ID: ENSG00000104044; HGNC ID: 8101
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
161Phosphoserine (By similarity).
214N-linked (GlcNAc...) (Potential).
218N-linked (GlcNAc...) (Potential).
273N-linked (GlcNAc...) (Potential).
442N-linked (GlcNAc...) (Potential).
781N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
214N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
218N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
273N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
442N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
781N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
40MethylarginineHMM predict
79Phosphoserine(IKK)HMM predict
80Phosphoserine(IKK)HMM predict
89Phosphoserine(IKK)HMM predict
153Phosphoserine(CK1)HMM predict
210Phosphoserine(CDC2)HMM predict
218N-linkedHMM predict
273N-linkedHMM predict
279N-linkedHMM predict
332O-linkedHMM predict
442N-linkedHMM predict
562Phosphoserine(CDC2)HMM predict
598Phosphoserine(ATM)HMM predict
781N-linkedHMM predict
821S-farnesylHMM predict
826S-farnesylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000275
  • Location:chr15 25673627-26018060
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 26019308 26019481 173 1334
hScc1 BcellGSE12603 26023140 26023482 342 5251
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 25662950 25662982 32 10662
Oct1 H2O2-HelaGSE14283 25671311 25671353 42 2296
Oct1 HelaGSE14283 25671320 25671374 54 2281
Oct1 HelaGSE14283 25673372 25673398 26 243
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 26004834 26005148 314 0
CTCF CD4SISSRdata 26004834 26005148 314 0
CTCF G2GSE9613 25695321 25695579 258 0
CTCF G2GSE9613 25723808 25724406 598 0
CTCF G2GSE9613 25766520 25766934 414 0
CTCF G2GSE9613 25767712 25767858 146 0
CTCF G2GSE9613 25781706 25782109 403 0
CTCF G2GSE9613 25821531 25821716 185 0
CTCF G2GSE9613 25866020 25866574 554 0
CTCF G2GSE9613 25922344 25922558 214 0
CTCF G2GSE9613 25940185 25940887 702 0
CTCF G2GSE9613 25942208 25942910 702 0
CTCF G2GSE9613 25974320 25974745 425 0
CTCF G2GSE9613 25976843 25977214 371 0
CTCF G2GSE9613 25977692 25977947 255 0
CTCF G2GSE9613 26013401 26014062 661 0
CTCF G2GSE9613 26015488 26016175 687 0
ER E2-MCF7GSE14664 25687111 25687143 32 0
ER E2-MCF7GSE14664 25702373 25702414 41 0
ER Fulvestrant-MCF7GSE14664 25718211 25718283 72 0
FoxA1 MCF7MACSdata 25712928 25713137 209 0
KLF4 hESGSE17917 25847177 25847452 275 0
Myc K562GSE19551 26004914 26005257 343 0
Oct1 HelaGSE14283 25674361 25674393 32 0
Oct1 HelaGSE14283 25680194 25680229 35 0
Oct1 HelaGSE14283 25718860 25718929 69 0
Oct1 HelaGSE14283 25729676 25729717 41 0
Oct1 HelaGSE14283 25749217 25749273 56 0
Oct1 HelaGSE14283 25762486 25762515 29 0
Oct1 HelaGSE14283 25801490 25801528 38 0
Oct1 HelaGSE14283 25844488 25844521 33 0
Oct1 HelaGSE14283 25994610 25994640 30 0
Rb shRbSenescenceGSE19898 26014590 26014830 240 0
TFAP2C MCF7GSE21234 26014377 26015368 991 0
hScc1 BcellGSE12603 25689073 25689400 327 0
hScc1 BcellGSE12603 25689904 25690100 196 0
hScc1 BcellGSE12603 25735218 25735922 704 0
hScc1 BcellGSE12603 25753519 25753834 315 0
hScc1 BcellGSE12603 25772783 25773150 367 0
hScc1 BcellGSE12603 25789339 25789882 543 0
hScc1 BcellGSE12603 25823063 25823366 303 0
hScc1 BcellGSE12603 25922344 25922933 589 0
hScc1 BcellGSE12603 25934862 25935058 196 0
hScc1 BcellGSE12603 26003824 26004045 221 0
hScc1 BcellGSE12603 26004307 26004458 151 0
hScc1 BcellGSE12603 26013312 26014062 750 0
hScc1 BcellGSE12603 26014475 26014763 288 0
hScc1 BcellGSE12603 26015488 26016175 687 0
hScc1 BcellGSE12603 26017549 26018343 794 0
p130 shRbSenescentGSE19898 25745112 25745531 419 0
p63 keratinocytesGSE17611 25797586 25798355 769 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-124 hsa-mir-124-1 8 20388802
hsa-miR-124 hsa-mir-124-2 8 20388802
hsa-miR-124 hsa-mir-124-3 20 20388802
hsa-miR-146a hsa-mir-146a 5 17613256
hsa-miR-146a* hsa-mir-146a 5 17613256
hsa-miR-212 hsa-mir-212 17 20388802
hsa-miR-24 hsa-mir-24-1 9 17613256
hsa-miR-24 hsa-mir-24-2 19 17613256
hsa-miR-34a hsa-mir-34a 1 20388802
hsa-miR-34a* hsa-mir-34a 1 20388802
hsa-miR-378 hsa-mir-378 5 17613256
hsa-miR-378* hsa-mir-378 5 17613256
hsa-miR-93 hsa-mir-93 7 17613256
hsa-miR-93* hsa-mir-93 7 17613256
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
8545 EST chr15 25889702 25894974 5272 mRNA OCA2 chr15 25673627 26018061 Non-exonic Bidirectional (NOB) 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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