Property Summary

NCBI Gene PubMed Count 9
PubMed Score 120.64
PubTator Score 2.52

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
non-small cell lung carcinoma 413 8.72330894288345E-31
lung carcinoma 2844 9.59430863896771E-19
lung adenocarcinoma 2714 2.72440587617038E-15
ovarian cancer 8492 4.48942249077339E-12
juvenile dermatomyositis 1189 3.02153863719446E-10
ulcerative colitis 2087 5.66536155719538E-7
lung cancer 4473 2.48371063769239E-6
glioblastoma 5572 1.59578099710179E-4
primary Sjogren syndrome 789 2.0321312824695E-4
group 4 medulloblastoma 1875 3.33750385212589E-4
intraductal papillary-mucinous adenoma (IPMA) 2956 3.93661418774841E-4
interstitial cystitis 2299 4.07117578284122E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 4.50388414629736E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.01160275138612
cystic fibrosis 1670 0.0125294753356295
astrocytoma 1493 0.0263980160010976
gastric carcinoma 832 0.0265427110215499
primary pancreatic ductal adenocarcinoma 1271 0.0272360372278083
urothelial carcinoma 318 0.0401097116409473
ependymoma 2514 0.0402032327833934
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

Synonym

Accession Q9ULI3 Q6NX66 Q8NC40 Q9BSV0
Symbols HEG
MST112
MSTP112

Gene

PDB

3U7D   4HDQ  

  Ortholog (5)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid

Pathway (1)

Gene RIF (4)

PMID Text
24643410 Human patients with cerebral cavernous malformations who lack exonic mutations in krev interaction trapped protein (KRIT)1, cerebral cavernous malformation (CCM) protein 2, or programmed cell death (PDCD)10 protein do not have mutations in HEG.
23814056 These data show that HEG1 can recruit the Rap1-KRIT complex to the plasma membrane.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
14680629 Identification of the zebrafish heart of glass (heg) gene. Description of HEG's role in the regulation of concentric heart growth in zebrafish.

AA Sequence

MASPRASRWPPPLLLLLLPLLLLPPAAPGTRDPPPSPARRALSLAPLAGAGLELQLERRPEREPPPTPPR      1 - 70
ERRGPATPGPSYRAPEPGAATQRGPSGRAPRGGSADAAWKHWPESNTEAHVENITFYQNQEDFSTVSSKE     71 - 140
GVMVQTSGKSHAASDAPENLTLLAETADARGRSGSSSRTNFTILPVGYSLEIATALTSQSGNLASESLHL    141 - 210
PSSSSEFDERIAAFQTKSGTASEMGTERAMGLSEEWTVHSQEATTSAWSPSFLPALEMGELTTPSRKRNS    211 - 280
SGPDLSWLHFYRTAASSPLLDLSSSSESTEKLNNSTGLQSSSVSQTKTMHVATVFTDGGPRTLRSLTVSL    281 - 350
GPVSKTEGFPKDSRIATTSSSVLLSPSAVESRRNSRVTGNPGDEEFIEPSTENEFGLTSLRWQNDSPTFG    351 - 420
EHQLASSSEVQNGSPMSQTETVSRSVAPMRGGEITAHWLLTNSTTSADVTGSSASYPEGVNASVLTQFSD    421 - 490
STVQSGGSHTALGDRSYSESSSTSSSESLNSSAPRGERSIAGISYGQVRGTAIEQRTSSDHTDHTYLSST    491 - 560
FTKGERALLSITDNSSSSDIVESSTSYIKISNSSHSEYSSFFHAQTERSNISSYDGEYAQPSTESPVLHT    561 - 630
SNLPSYTPTINMPNTSVVLDTDAEFVSDSSSSSSSSSSSSSSGPPLPLPSVSQSHHLFSSILPSTRASVH    631 - 700
LLKSTSDASTPWSSSPSPLPVSLTTSTSAPLSVSQTTLPQSSSTPVLPRARETPVTSFQTSTMTSFMTML    701 - 770
HSSQTADLKSQSTPHQEKVITESKSPSLVSLPTESTKAVTTNSPLPPSLTESSTEQTLPATSTNLAQMSP    771 - 840
TFTTTILKTSQPLMTTPGTLSSTASLVTGPIAVQTTAGKQLSLTHPEILVPQISTEGGISTERNRVIVDA    841 - 910
TTGLIPLTSVPTSAKEMTTKLGVTAEYSPASRSLGTSPSPQTTVVSTAEDLAPKSATFAVQSSTQSPTTV    911 - 980
SSSASVNSCAVNPCLHNGECVADNTSRGYHCRCPPSWQGDDCSVDVNECLSNPCPSTAMCNNTQGSFICK    981 - 1050
CPVGYQLEKGICNLVRTFVTEFKLKRTFLNTTVEKHSDLQEVENEITKTLNMCFSALPSYIRSTVHASRE   1051 - 1120
SNAVVISLQTTFSLASNVTLFDLADRMQKCVNSCKSSAEVCQLLGSQRRIFRAGSLCKRKSPECDKDTSI   1121 - 1190
CTDLDGVALCQCKSGYFQFNKMDHSCRACEDGYRLENETCMSCPFGLGGLNCGNPYQLITVVIAAAGGGL   1191 - 1260
LLILGIALIVTCCRKNKNDISKLIFKSGDFQMSPYAEYPKNPRSQEWGREAIEMHENGSTKNLLQMTDVY   1261 - 1330
YSPTSVRNPELERNGLYPAYTGLPGSRHSCIFPGQYNPSFISDESRRRDYF                      1331 - 1381
//

Text Mined References (15)

PMID Year Title
24643410 2014 Cerebral cavernous malformations arise independent of the heart of glass receptor.
23814056 2013 The structure of the ternary complex of Krev interaction trapped 1 (KRIT1) bound to both the Rap1 GTPase and the heart of glass (HEG1) cytoplasmic tail.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23007647 2012 Structural basis of the junctional anchorage of the cerebral cavernous malformations complex.
22171320 2012 Human urinary glycoproteomics; attachment site specific analysis of N- and O-linked glycosylations by CID and ECD.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19151727 2009 Regulation of cardiovascular development and integrity by the heart of glass-cerebral cavernous malformation protein pathway.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
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