ENSG00000141449


Homo sapiens

Features
Gene ID: ENSG00000141449
  
Biological name :GREB1L
  
Synonyms : GREB1L / growth regulation by estrogen in breast cancer 1 like / Q9C091
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: 1
Band: q11.1
Gene start: 21242242
Gene end: 21525417
  
Corresponding Affymetrix probe sets: 220340_at (Human Genome U133 Plus 2.0 Array)   233977_at (Human Genome U133 Plus 2.0 Array)   243907_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000464162
Ensembl peptide - ENSP00000463926
Ensembl peptide - ENSP00000463976
Ensembl peptide - ENSP00000269218
Ensembl peptide - ENSP00000412060
Ensembl peptide - ENSP00000462152
NCBI entrez gene - 80000     See in Manteia.
OMIM - 617782
RefSeq - XM_017025996
RefSeq - XM_017025991
RefSeq - XM_017025992
RefSeq - XM_017025993
RefSeq - XM_017025994
RefSeq - XM_017025995
RefSeq - NM_001142966
RefSeq - XM_006722547
RefSeq - XM_011526179
RefSeq - XM_017025988
RefSeq - XM_017025989
RefSeq - XM_017025990
RefSeq Peptide - NP_001136438
swissprot - J3QQW0
swissprot - J3QR03
swissprot - J3KRT4
swissprot - Q9C091
Ensembl - ENSG00000141449
  
Related genetic diseases (OMIM): 617805 - Renal hypodysplasia/aplasia 3, 617805
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 greb1lENSDARG00000039196Danio rerio
 GREB1LENSGALG00000014935Gallus gallus
 B9EJV3ENSMUSG00000042942Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GREB1 / Q4ZG55 / growth regulation by estrogen in breast cancer 1ENSG0000019620851


Protein motifs (from Interpro)
Interpro ID Name
 IPR024840  GREB1-like
 IPR028422  GREB1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0007275 multicellular organism development IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000008 Abnormality of female internal genitalia 
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 HP:0000104 Renal agenesis 
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 HP:0000175 Cleft palate "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators]
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 HP:0000286 Epicanthus "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators]
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 HP:0000316 Hypertelorism 
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 HP:0000369 Low-set ears "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators]
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 HP:0000457 Flat nose 
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 HP:0001562 Oligohydramnios 
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 HP:0001563 Fetal polyuria 
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 HP:0001958 Nonketotic hypoglycemia 
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 HP:0002089 Pulmonary hypoplasia 
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 HP:0002242 Abnormality of the intestines 
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 HP:0002575 Tracheoesophageal fistula "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators]
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 HP:0005107 Abnormality of the sacrum 
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 HP:0010497 Sirenomelia "A developmental defect in which the legs are fused together." [HPO:curators]
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 HP:0030680 Abnormality of cardiovascular system morphology "Any structural anomaly of the heart and great vessels." []
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 HP:0100335 Non-midline cleft lip 
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 HP:0100589 Urogenital fistula "The presence of a `fistula` (MPATH:70) affecting the `genitourinary system` (FMA:280610)." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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