AutismKB 2.0

Annotation Detail for MXD4


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Basic Information Top
Gene Symbol:MXD4 ( MAD4,MST149,MSTP149,bHLHc12 )
Gene Full Name: MAX dimerization protein 4
Band: 4p16.3
Quick LinksEntrez ID:10608; OMIM: NA; Uniprot ID:MAD4_HUMAN; ENSEMBL ID: ENSG00000123933; HGNC ID: 13906
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
27Phosphotyrosine(Abl)HMM predict
27Phosphotyrosine(Syk)HMM predict
54N-linkedHMM predict
59N-linkedHMM predict
114Phosphoserine(CAMK2)HMM predict
114Phosphoserine(PKG)HMM predict
145Phosphoserine(PKA)HMM predict
152Phosphothreonine(CK2)HMM predict
176Phosphoserine(CK1)HMM predict
178Phosphoserine(CK2)HMM predict
184SulfotyrosineHMM predict
202ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006454
  • Location:chr4 2218957-2233536
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2233609 2234644 1035 590
CTCF G2GSE9613 2235404 2236230 826 2281
PHF8 293TGSE20725 2233923 2234732 809 791
PHF8 HeLaGSE20725 2232597 2234798 2201 161
PHF8 Hs68minusFBSGSE20725 2233923 2234682 759 766
PHF8 Hs68plusFBSGSE20725 2233855 2234618 763 700
p130 SenescentGSE19898 2233758 2234137 379 411
p130 SenescentGSE19898 2234153 2234630 477 855
p130 shRbQuiescentGSE19898 2233886 2234585 699 699
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2216751 2217228 477 1968
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2217955 2223073 5118 0
CTCF G2GSE9613 2223518 2224394 876 0
CTCF G2GSE9613 2226945 2227273 328 0
CTCF G2GSE9613 2227704 2227915 211 0
CTCF G2GSE9613 2228182 2229494 1312 0
CTCF G2GSE9613 2229744 2231954 2210 0
CTCF G2GSE9613 2232191 2232926 735 0
PHF8 293TGSE20725 2233119 2233798 679 0
Rb SenescentGSE19898 2232975 2233169 194 0
TFAP2C MCF7GSE21234 2227190 2227625 435 0
hScc1 BcellGSE12603 2221309 2222060 751 0
hScc1 BcellGSE12603 2223546 2224394 848 0
hScc1 BcellGSE12603 2228297 2229062 765 0
hScc1 BcellGSE12603 2229715 2231025 1310 0
hScc1 BcellGSE12603 2232375 2232926 551 0
hScc1 G2GSE9613 2221487 2222099 612 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
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
185 Unknown MicroArray miR-1 MXD4 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000123933 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "epithelium, squamous cell, lymphocyte, leukocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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