ENSG00000152795


Homo sapiens

Features
Gene ID: ENSG00000152795
  
Biological name :HNRNPDL
  
Synonyms : heterogeneous nuclear ribonucleoprotein D like / HNRNPDL / O14979
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q21.22
Gene start: 82422564
Gene end: 82430408
  
Corresponding Affymetrix probe sets: 1554678_s_at (Human Genome U133 Plus 2.0 Array)   201993_x_at (Human Genome U133 Plus 2.0 Array)   209067_s_at (Human Genome U133 Plus 2.0 Array)   209068_at (Human Genome U133 Plus 2.0 Array)   212454_x_at (Human Genome U133 Plus 2.0 Array)   214379_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000478723
Ensembl peptide - ENSP00000480156
Ensembl peptide - ENSP00000486452
Ensembl peptide - ENSP00000485954
Ensembl peptide - ENSP00000483254
Ensembl peptide - ENSP00000295470
Ensembl peptide - ENSP00000338552
Ensembl peptide - ENSP00000422040
Ensembl peptide - ENSP00000473677
Ensembl peptide - ENSP00000478269
NCBI entrez gene - 9987     See in Manteia.
OMIM - 607137
RefSeq - NM_031372
RefSeq - NM_001207000
RefSeq Peptide - NP_001193929
RefSeq Peptide - NP_112740
swissprot - O14979
swissprot - A0A087WU03
swissprot - A0A024RDF6
swissprot - A0A087WUK2
Ensembl - ENSG00000152795
  
Related genetic diseases (OMIM): 609115 - Muscular dystrophy, limb-girdle, type 1G, 609115
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
 hnrnpdlENSDARG00000003429Danio rerio
 Q5ZI72ENSGALG00000023199Gallus gallus
 HnrnpdlENSMUSG00000029328Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HNRNPD / Q14103 / heterogeneous nuclear ribonucleoprotein DENSG0000013866848
Q99729 / HNRNPAB / heterogeneous nuclear ribonucleoprotein A/BENSG0000019745145
MSI2 / Q96DH6 / musashi RNA binding protein 2ENSG0000015394429
MSI1 / O43347 / musashi RNA binding protein 1ENSG0000013509728
DAZAP1 / Q96EP5 / DAZ associated protein 1ENSG0000007162623
Q13148 / TARDBP / TAR DNA binding proteinENSG0000012094823


Protein motifs (from Interpro)
Interpro ID Name
 IPR000504  RNA recognition motif domain
 IPR034847  hnRNP DL, RNA recognition motif 1
 IPR035979  RNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0035722 interleukin-12-mediated signaling pathway TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0003198 Myopathy 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003547 Shoulder girdle muscle weakness "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators]
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 HP:0003581 Onset in adulthood 
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 HP:0003677 Slow progression 
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 HP:0003749 Pelvic girdle muscle weakness "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [HPO:curators]
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 HP:0003805 Rimmed vacuoles 
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 HP:0003829 Incomplete penetrance 
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 HP:0006203 Decreased movement range in interphalangeal joints 
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 HP:0006785 Limb-girdle muscular dystrophy "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [HPO:curators]
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 HP:0008116 Flexion limitation of toes, progressive, permanent 
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 HP:0008948 Proximal upper limb muscle atrophy "Muscular atrophy affecting proximally located muscles of the arms." [HPO:curators]
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 HP:0008956 Proximal lower limb muscle atrophy "Muscular atrophy affecting proximally located muscles of the legs." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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contact: otassy@igbmc.fr