HNRNPDL (heterogeneous nuclear ribonucleoprotein D like)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9987
Gene name Gene Name - the full gene name approved by the HGNC.
Heterogeneous nuclear ribonucleoprotein D like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HNRNPDL
Synonyms (NCBI Gene) Gene synonyms aliases
HNRNP, HNRPDL, JKTBP, JKTBP2, LGMD1G, LGMDD3, laAUF1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LGMDD3
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q21.22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in th
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs587777669 C>G,T Pathogenic, uncertain-significance Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs1553900864 G>A Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(166)
miRTarBase ID miRNA Experiments Reference
MIRT004964 hsa-let-7a-5p qRT-PCR 17942906
MIRT004954 hsa-let-7b-5p qRT-PCR 17942906
MIRT004948 hsa-miR-98-5p qRT-PCR 17942906
MIRT027879 hsa-miR-96-5p Sequencing 20371350
MIRT031982 hsa-miR-16-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
GO:0005515 Function Protein binding IPI 26420826, 32296183, 32814053
GO:0005654 Component Nucleoplasm IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607137 5037 ENSG00000152795
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O14979
Protein name Heterogeneous nuclear ribonucleoprotein D-like (hnRNP D-like) (hnRNP DL) (AU-rich element RNA-binding factor) (JKT41-binding protein) (Protein laAUF1)
Protein function Acts as a transcriptional regulator. Promotes transcription repression. Promotes transcription activation in differentiated myotubes (By similarity). Binds to double- and single-stranded DNA sequences. Binds to the transcription suppressor CATR
PDB 7ZIR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 150 → 219 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00076 RRM_1 235 → 305 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, spleen, thymus, prostate, testis, ovary, small intestine, colon and leukocytes. Expressed in myeloid leukemia, gastric adenocarcinoma, cervical carcin
Sequence 
MEVPPRLSHVPPPLFPSAPATLASRSLSHWRPRPPRQLAPLLPSLAPSSARQGARRAQRH
VTAQQPSRLAGGAAIKGGRRRRPDLFRRHFKSSSIQRSAAAAAATRTARQHPPADSSVTM
EDMNEYSNIEEFAEGSKINASKNQQDDGKMFIGGLSWDTSKKDLTEYLSRFGEVVDCTIK
TDPVTGRSRGFGFVLFKDAASVDKVLELKEHKLDGKLIDPKRAKALKGKEPPKKVFVGGL
SPDTSEEQIKEYFGAFGEIENIELPMDTKTNERRGFCFITYTDEEPVKKLLESRYHQIGS
GKCEIKVAQPKEVYRQQQQQQKGGRGAAAGGRGGTRGRGRGQGQNWNQGFNNYYDQGYGN
YNSAYGGDQNYSGYGGYDYTGYNYGNYGYGQGYADYSGQQSTYGKASRGGGNHQNNYQPY
Sequence length 420
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Limb-girdle muscular dystrophy HNRNPDL-related limb-girdle muscular dystrophy D3, Muscular Dystrophies, Limb-Girdle, LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) rs2137534216, rs104894422, rs762777463, rs104894423, rs137854524, rs137854521, rs137854523, rs137854529, rs398123555, rs119463996, rs587777814, rs119463992, rs267606971, rs267606967, rs28941782
View all (762 more)		 30055862, 24647604
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Muscular dystrophy autosomal dominant limb-girdle muscular dystrophy type 1G, muscular dystrophy, limb-girdle, autosomal dominant GenCC