2. Gene
  3. HEG1 - heart development protein with EGF like domains 1 Gene

HEG1 - heart development protein with EGF like domains 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HEG; MST112; MSTP112

Gene ID: 57493 | Gene type: protein coding

About HEG1

Cytogenetic location: 3q21.2 Genomic coordinates (GRCh38): 3:124,965,710-125,055,997 (from NCBI)

This gene has 5 transcripts (splice variants) and 203 orthologues. Broad expression in thyroid (RPKM 26.8), lung (RPKM 26.7) and 23 other tissues.

Summary

Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction. [provided by Alliance of Genome Resources, Apr 2022]

HEG1 Products(1)

mRNA Protein Name
NM_020733.2 NP_065784.1 protein HEG homolog 1 precursor
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
23007647 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of Rho protein signal transduction IMP
IMP: Inferred from mutant phenotype
26780829 GOA
involved in negative regulation of Rho-dependent protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
26780829 GOA
involved in negative regulation of membrane permeability IDA
IDA: Inferred from direct assay
26780829 GOA
involved in protein localization to cell junction IMP
IMP: Inferred from mutant phenotype
26780829 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cell-cell junction IDA
IDA: Inferred from direct assay
26780829 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HEG1 Protein Structure

EGF

EGF: EGF-like domain (989 - 1020)

EGF_CA

EGF_CA: Calcium-binding EGF domain (1025 - 1056)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1381 a.a.
Protein Preferred Names Protein Names

protein HEG homolog 1

heart of glass

Related Diseases

Diseases Alias
Cerebral Cavernous Malformations

Cerebral Cavernous Malformation

Cavernous Malformations Of Cns And Retina

Cerebral Cavernous Malformation 1

Cavernous Angiomatous Malformations

Cerebral Capillary Malformations

CCM

Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations

Familial Cavernous Angioma

Cavernous Angioma

Familial Cerebral Cavernous Malformation

Cerebral Cavernous Malformations 1

Cavernous Angioma, Familial

Cam

Cerebral Cavernous Malformations-1

Cavernoma

Central Nervous System Cavernous Hemangioma

Cerebral Cavernous Hemangioma

Familial Cavernous Hemangioma

Familial Cavernous Malformation

Familial Cerebral Cavernous Angioma

Intracerebral Cavernous Hemangioma

CCM1

Cavernous Hemangioma Of The Brain

Cerebral Cavernoma

Cerebral Cavernous Malformations, Type 1

Hemangioma, Cavernous, Central Nervous System

Hemangioma, Cavernous

Angioma, Cavernous
Lymphohistiocytoid Mesothelioma
Cerebrocostomandibular Syndrome

Cerebro-Costo-Mandibular Syndrome

CCMS

Rib Gap Defects With Micrognathia

Ccm Syndrome
Hemangioma Of Liver

Hepatic Hemangioma

Angioma Of Liver

Hepatic Angioma
Hemopericardium

Haemopericardium

Pericardial Effusion

Haematopericardium

Pneumohemopericardium

Pericardium Haemorrhage

Haemorrhagic Pericarditis
Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C
Sarcomatoid Mesothelioma

Malignant Fibrous Mesothelioma

Spindled Mesothelioma
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06113 HEG1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus HEG1 MGD MGI:1924696
Rattus norvegicus HEG1 RGD RGD:1564641
Bos taurus HEG1 VGNC VGNC:29803
Macaca mulatta HEG1 VGNC VGNC:84172
Canis familiaris HEG1 VGNC VGNC:41647
Felis catus HEG1 VGNC VGNC:62788