ENSG00000138640


Homo sapiens

Features
Gene ID: ENSG00000138640
  
Biological name :FAM13A
  
Synonyms : FAM13A / family with sequence similarity 13 member A / O94988
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q22.1
Gene start: 88725955
Gene end: 89111398
  
Corresponding Affymetrix probe sets: 1569024_at (Human Genome U133 Plus 2.0 Array)   1569025_s_at (Human Genome U133 Plus 2.0 Array)   202972_s_at (Human Genome U133 Plus 2.0 Array)   202973_x_at (Human Genome U133 Plus 2.0 Array)   217047_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422345
Ensembl peptide - ENSP00000421914
Ensembl peptide - ENSP00000423252
Ensembl peptide - ENSP00000427189
Ensembl peptide - ENSP00000427077
Ensembl peptide - ENSP00000426517
Ensembl peptide - ENSP00000425784
Ensembl peptide - ENSP00000423800
Ensembl peptide - ENSP00000264344
Ensembl peptide - ENSP00000378450
Ensembl peptide - ENSP00000421269
Ensembl peptide - ENSP00000421562
NCBI entrez gene - 10144     See in Manteia.
OMIM - 613299
RefSeq - XM_017007634
RefSeq - XM_011531517
RefSeq - XM_011531518
RefSeq - XM_011531519
RefSeq - XM_017007624
RefSeq - XM_017007625
RefSeq - XM_017007626
RefSeq - XM_017007627
RefSeq - XM_017007628
RefSeq - XM_017007629
RefSeq - XM_017007630
RefSeq - XM_017007631
RefSeq - XM_017007632
RefSeq - XM_017007633
RefSeq - NM_001015045
RefSeq - NM_001265578
RefSeq - NM_001265579
RefSeq - NM_001265580
RefSeq - NM_014883
RefSeq - XM_005262681
RefSeq - XM_005262682
RefSeq - XM_005262683
RefSeq - XM_005262684
RefSeq - XM_006714057
RefSeq - XM_011531516
RefSeq Peptide - NP_001252508
RefSeq Peptide - NP_001252509
RefSeq Peptide - NP_055698
RefSeq Peptide - NP_001015045
RefSeq Peptide - NP_001252507
swissprot - D6RCC1
swissprot - E9PGM7
swissprot - O94988
swissprot - Q6P521
swissprot - D6RIY4
swissprot - D6RGE4
swissprot - D6RFM4
swissprot - D6RD35
Ensembl - ENSG00000138640
  
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
 CABZ01031870.1ENSDARG00000116732Danio rerio
 fam13aENSDARG00000075564Danio rerio
 FAM13AENSGALG00000010371Gallus gallus
 Fam13aENSMUSG00000037709Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
FAM13B / Q9NYF5 / family with sequence similarity 13 member BENSG0000003100334
FAM13C / Q8NE31 / family with sequence similarity 13 member CENSG0000014854120


Protein motifs (from Interpro)
Interpro ID Name
 IPR000198  Rho GTPase-activating protein domain
 IPR008936  Rho GTPase activation protein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0051056 regulation of small GTPase mediated signal transduction TAS
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0005096 GTPase activator activity TAS


Pathways (from Reactome)
Pathway description
Rho GTPase cycle


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0002020 Gastroesophageal reflux 
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 HP:0002110 Bronchiectasis 
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 HP:0002206 Pulmonary fibrosis 
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 HP:0002875 Exertional dyspnea 
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 HP:0010444 Pulmonary insufficiency "The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole." [HPO:curators]
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 HP:0012735 Cough "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation." [HPO:probinson]
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 HP:0025175 Honeycomb lung "Extensive interstitial fibrosis with alveolar disruption and bronchiolectasis." []
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 HP:0025179 Ground-glass opacification "A descriptive term that is applied to computer tomography imaging and that refers to a hazy area of increased attenuation in the lung with preserved bronchial and vascular markings." []
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 HP:0025390 Reticular pattern on pulmonary HRCT "On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh." [PMID:23247773]
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 HP:0030830 Rales "Abnormal breath sounds characterized by discontinuous clicking or rattling." [UToronto:chum]
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 HP:0100759 Clubbing of fingers "Terminal broadening of the fingers (distal phalanges of the fingers)." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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