Annotation Detail for SGMS2

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Basic Information Top

Gene Symbol:	SGMS2 ( MGC26963,SMS2 )
Gene Full Name:	sphingomyelin synthase 2
Band:	4q25
Quick Links	Entrez ID:166929; OMIM: 611574; Uniprot ID:SMS2_HUMAN; ENSEMBL ID: ENSG00000164023; HGNC ID: 28395
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:0 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:5 results

No data

Location(AA)	Modification	Resource
24	Phosphotyrosine(Syk)	HMM predict
59	Phosphotyrosine(INSR)	HMM predict
331	S-palmitoyl	HMM predict
332	S-palmitoyl	HMM predict
346	Phosphoserine(CDK)	HMM predict

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_152621
Location:chr4 109033878-109051556
strand:+

Upstream the gene:5 results
Downstream the gene:6 results
Inside the gene:6 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
FOXA1	eGFP	GSE10845	109017945	109018467	522	15673
FoxA1	MCF7	MACSdata	109018012	109018294	282	15726
Nanog	hES	GSE18292	109031523	109031734	211	2250
Sox2	hES	GSE18292	109031526	109031745	219	2243
TFAP2C	MCF7	GSE21234	109017829	109018302	473	15813

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	109053892	109054291	399	2535
CTCF	CD4	SISSRdata	109053892	109054291	399	2535
CTCF	G2	GSE9613	109053932	109054164	232	2492
Myc	K562	GSE19551	109054010	109054175	165	2536
hScc1	CdLS	GSE12603	109053795	109054355	560	2519
hScc1	G2	GSE9613	109053577	109054317	740	2391

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CBP	T30-glioblastoma	GSE21026	109036496	109037482	986	0
FOXA1	MCF7	GSE15244	109036566	109037522	956	0
FOXA1	eGFP	GSE10845	109036566	109037522	956	0
FoxA1	MCF7	MACSdata	109034520	109034710	190	0
FoxA1	MCF7	MACSdata	109037002	109037348	346	0
P300	T30-glioblastoma	GSE21026	109036573	109037381	808	0

Validated miRNA targets

Cis-Nats regulation

Simple Query:

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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