AutismKB 2.0

Annotation Detail for MCAM


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Basic Information Top
Gene Symbol:MCAM ( CD146,MUC18 )
Gene Full Name: melanoma cell adhesion molecule
Band: 11q23.3
Quick LinksEntrez ID:4162; OMIM: 155735; Uniprot ID:MUC18_HUMAN; ENSEMBL ID: ENSG00000076706; HGNC ID: 6934
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
56N-linked (GlcNAc...) (Potential).
418N-linked (GlcNAc...) (Potential).
449N-linked (GlcNAc...) (Potential).
467N-linked (GlcNAc...).
508N-linked (GlcNAc...) (Potential).
518N-linked (GlcNAc...) (Potential).
527N-linked (GlcNAc...) (Potential).
544N-linked (GlcNAc...) (Potential).
606Phosphoserine.
614Phosphoserine.
Location(AA) Modifications Resource
56N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
418N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
449N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
467N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
508N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
518N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
527N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
544N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
614Phosphoserine.Swiss-Prot 53.0
614PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
15S-palmitoylHMM predict
16S-palmitoylHMM predict
17S-palmitoylHMM predict
18S-palmitoylHMM predict
51Phosphoserine(ATM)HMM predict
53Phosphoserine(ATM)HMM predict
56N-linkedHMM predict
71Phosphothreonine(PKA)HMM predict
195Phosphothreonine(PKC)HMM predict
202Phosphotyrosine(INSR)HMM predict
349Phosphoserine(CDC2)HMM predict
370Phosphoserine(ATM)HMM predict
418N-linkedHMM predict
424N-linkedHMM predict
467N-linkedHMM predict
518N-linkedHMM predict
526Phosphoserine(IKK)HMM predict
526O-linkedHMM predict
527N-linkedHMM predict
530O-linkedHMM predict
533O-linkedHMM predict
534O-linkedHMM predict
535O-linkedHMM predict
535Phosphoserine(IKK)HMM predict
535O-linkedHMM predict
541O-linkedHMM predict
544N-linkedHMM predict
545Phosphoserine(PKG)HMM predict
547O-linkedHMM predict
548Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006500
  • Location:chr11 118684444-118693049
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 118694820 118695202 382 1962
H3K27me3 colorectalcancer 118694743 118695128 385 1886
H3ac HepG2E 118695481 118695919 438 2651
KLF4 hESGSE17917 118699514 118699882 368 6649
NRSF pAbJurkat 118697573 118697825 252 4650
PHF8 Hs68minusFBSGSE20725 118696663 118697561 898 4063
RARA MCF7GSE15244 118698471 118698644 173 5508
Rb GrowingGSE19898 118699457 118699588 131 6473
TFAP2C MCF7GSE21234 118694534 118695473 939 1954
hScc1 BcellGSE12603 118696854 118697267 413 4011
hScc1 BcellGSE12603 118699463 118699932 469 6648
hScc1 CdLSGSE12603 118699371 118700032 661 6652
hScc1 G2GSE9613 118699433 118700175 742 6755
p130 QuiescentGSE19898 118697344 118697567 223 4406
p130 QuiescentGSE19898 118699419 118699742 323 6531
p130 SenescentGSE19898 118696963 118697843 880 4354
p130 shRbSenescentGSE19898 118697361 118697657 296 4460
p130 shRbSenescentGSE19898 118699264 118699650 386 6408
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF pAbJurkat 118686535 118687300 765 0
NRSF pAbJurkat 118690582 118690793 211 0
NRSF pAbJurkat 118692536 118693466 930 0
PHF8 HeLaGSE20725 118691968 118693742 1774 0
hScc1 BcellGSE12603 118692578 118693040 462 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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