Aliases for HNRNPDL Gene
Aliases for HNRNPDL Gene
External Ids for HNRNPDL Gene
- HGNC: 5037
- Entrez Gene: 9987
- Ensembl: ENSG00000152795
- OMIM: 607137
- UniProtKB: O14979
Previous HGNC Symbols for HNRNPDL Gene
- HNRPDL
Previous GeneCards Identifiers for HNRNPDL Gene
- GC04M083344
Summaries for HNRNPDL 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 the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]
GeneCards Summary for HNRNPDL Gene
HNRNPDL (Heterogeneous Nuclear Ribonucleoprotein D Like) is a Protein Coding gene. Diseases associated with HNRNPDL include Limb-Girdle Muscular Dystrophy, Type 1G and Chromosome 4Q21 Deletion Syndrome. GO annotations related to this gene include nucleic acid binding and nucleotide binding. An important paralog of this gene is HNRNPD.
UniProtKB/Swiss-Prot for HNRNPDL Gene
-
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 sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C) RNA homopolymers. Binds to the 5-ACUAGC-3 RNA consensus sequence.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNRNPDL Gene
Genomics for HNRNPDL Gene
Regulatory Elements for HNRNPDL Gene
Enhancers for HNRNPDL Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH04G082370 | 1.4 | ENCODE dbSUPER | 11.7 | +57.0 | 56954 | 5.0 | MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 | ENOPH1 HNRNPDL LOC101928963 TMEM150C PIR50483 |
| GH04G082363 | 1.1 | dbSUPER | 11.7 | +66.4 | 66437 | 1.7 | ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF143 KLF13 NFYC MXD4 | HNRNPDL ENOPH1 ENSG00000273156 PIR50483 LOC101928963 |
| GH04G082360 | 1 | ENCODE dbSUPER | 11.7 | +69.7 | 69684 | 1.4 | SMARCE1 CTCF ZNF654 PKNOX1 SAP130 TRIM22 REST RAD21 ZNF335 ZNF664 | HNRNPDL ENOPH1 ENSG00000273156 PIR50483 |
| GH04G082361 | 0.7 | dbSUPER | 11.7 | +68.1 | 68098 | 1.3 | ZBTB11 ZNF501 THRB ZNF335 TFDP1 ZNF664 GLIS1 MBD1 KDM1A ZNF600 | HNRNPDL ENOPH1 ENSG00000273156 PIR50483 |
| GH04G082380 | 0.7 | ENCODE | 11.5 | +49.9 | 49906 | 0.2 | CTCF ZNF687 ZHX2 MAX SIN3A USF2 MNT RAD21 ZNF592 ZNF579 | ENOPH1 HNRNPDL HNRNPD IGBP1P4 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HNRNPDL on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for HNRNPDL Gene
- Chromosome:
- 4
- Start:
- 82,422,564 bp from pter
- End:
- 82,430,408 bp from pter
- Size:
- 7,845 bases
- Orientation:
- Minus strand
Genomic View for HNRNPDL Gene
Genes around HNRNPDL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q21.22 by Ensembl
- 4q21.22 by Entrez Gene
- 4q21.22 by HGNC
HNRNPDL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HNRNPDL Gene
Proteins for HNRNPDL Gene
-
Protein details for HNRNPDL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O14979-HNRDL_HUMAN
- Recommended name:
- Heterogeneous nuclear ribonucleoprotein D-like
- Protein Accession:
- O14979
- Q6SPF2
- Q7KZ74
- Q7KZ75
- Q96IM0
- Q96S43
Protein attributes for HNRNPDL Gene
- Size:
- 420 amino acids
- Molecular mass:
- 46438 Da
- Quaternary structure:
-
- Interacts with ZNF148 (By similarity). Interacts with TNPO1.
- SequenceCaution:
-
- Sequence=BAA22860.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for HNRNPDL Gene
Post-translational modifications for HNRNPDL Gene
- Dimethylation of Arg-408 is probably of the asymmetric type.
- Ubiquitination at isoforms=2, 3137, posLast=149149, isoforms=2, 3162, isoforms=2, 3197, isoforms=2, 3204, and posLast=302302
- Modification sites at PhosphoSitePlus
Other Protein References for HNRNPDL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HNRNPDL
- Invitrogen Antibodies for HNRNPDL
- antibodies-online Antibodies for HNRNPDL: See all 36
- GeneTex HNRNPDL antibody for HNRNPDL
-
Santa Cruz Biotechnology (SCBT) Antibodies for HNRNPDL
Protein Products
-
OriGene Purified Proteins for HNRNPDL
- Search Origene for MassSpec and Protein Over-expression Lysates for HNRNPDL
- Origene Custom Protein Services for HNRNPDL
- antibodies-online Proteins for HNRNPDL: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for HNRNPDL
Assay Products
- antibodies-online Kits for HNRNPDL: See all 19
No data available for DME Specific Peptides for HNRNPDL Gene
Domains & Families for HNRNPDL Gene
Gene Families for HNRNPDL Gene
Protein Domains for HNRNPDL Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HNRNPDL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for HNRNPDL Gene
Function for HNRNPDL Gene
Molecular function for HNRNPDL Gene
- UniProtKB/Swiss-Prot 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 sequence of the COX5B promoter (By similarity). Binds with high affinity to RNA molecules that contain AU-rich elements (AREs) found within the 3-UTR of many proto-oncogenes and cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A) mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C) RNA homopolymers. Binds to the 5-ACUAGC-3 RNA consensus sequence.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by 12-O-tetradecanoylphorbol-13-acetate (TPA) in macrophages and retinoic acid (RA) in granulocytes (at protein level). Down-regulated by IL4/interleukin-4.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003723 | RNA binding | IEA,IDA | 22658674 |
| GO:0005515 | protein binding | IPI | 26420826 |
Phenotypes for HNRNPDL Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HNRNPDL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HNRNPDL gene
- Search ViGene Biosciences for HNRNPDL
CRISPR Products
-
OriGene CRISPR knockouts for HNRNPDL
-
Santa Cruz Biotechnology (SCBT) CRISPR for HNRNPDL
- GenScript: Design CRISPR guide RNA sequences for HNRNPDL
miRNA for HNRNPDL Gene
- miRTarBase miRNAs that target HNRNPDL
-
- hsa-mir-96-5p (MIRT027879)
- hsa-mir-16-5p (MIRT031982)
- hsa-mir-339-5p (MIRT042792)
- hsa-mir-378a-5p (MIRT043969)
- hsa-mir-30c-5p (MIRT047859)
- hsa-mir-545-3p (MIRT506995)
- hsa-mir-3613-3p (MIRT506996)
- hsa-mir-6838-5p (MIRT506997)
- hsa-mir-497-5p (MIRT506998)
- hsa-mir-424-5p (MIRT506999)
- hsa-mir-195-5p (MIRT507000)
- hsa-mir-15b-5p (MIRT507001)
- hsa-mir-15a-5p (MIRT507002)
- hsa-mir-583 (MIRT507003)
- hsa-mir-548p (MIRT547937)
- hsa-mir-550b-2-5p (MIRT557214)
- hsa-mir-550a-5p (MIRT557215)
- hsa-mir-550a-3-5p (MIRT557216)
- hsa-mir-6889-3p (MIRT557217)
- hsa-mir-1271-3p (MIRT557218)
- hsa-mir-944 (MIRT557219)
- hsa-mir-137 (MIRT557220)
- hsa-mir-1304-5p (MIRT574663)
- hsa-mir-302c-5p (MIRT574664)
- hsa-mir-6086 (MIRT574665)
- hsa-mir-3143 (MIRT574666)
- hsa-mir-377-5p (MIRT574667)
- hsa-mir-655-5p (MIRT574668)
- hsa-mir-203a-3p (MIRT574669)
- hsa-mir-4729 (MIRT574670)
- hsa-mir-511-3p (MIRT574671)
- hsa-mir-3662 (MIRT574672)
- hsa-mir-3163 (MIRT574673)
- hsa-mir-4795-3p (MIRT657333)
- hsa-mir-8063 (MIRT657334)
- hsa-mir-126-5p (MIRT657335)
- hsa-mir-208b-5p (MIRT657336)
- hsa-mir-208a-5p (MIRT657337)
- hsa-mir-4668-3p (MIRT657338)
miRNA Products
- Search ViGene Biosciences for HNRNPDL
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for HNRNPDL
- Browse OriGene Inhibitory RNA Products For HNRNPDL
-
ViGene Biosciences ready-to-package AAV shRNAs for HNRNPDL gene
Clone Products
-
OriGene ORF clones in human for HNRNPDL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Cell Line Products
-
Horizon Cell Lines for HNRNPDL
-
ViGene Biosciences adenoviral particle packaged cDNA for HNRNPDL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HNRNPDL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HNRNPDL gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HNRNPDL Gene
Localization for HNRNPDL Gene
Subcellular locations from UniProtKB/Swiss-Prot for HNRNPDL Gene
- Nucleus. Cytoplasm. Note=Shuttles between the nucleus and the cytoplasm in a TNPO1-dependent manner. {ECO:0000269 PubMed:11705999, ECO:0000269 PubMed:12406575}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| mitochondrion | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0019013 | viral nucleocapsid | IEA | -- |
| GO:0030529 | intracellular ribonucleoprotein complex | IEA | -- |
Pathways & Interactions for HNRNPDL Gene
No Data Available
Interacting Proteins for HNRNPDL Gene
Selected Interacting proteins:
ENSP00000295470
O14979-HNRDL_HUMAN
for HNRNPDL Gene via
STRING
IID
MINT
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for HNRNPDL Gene
Transcripts for HNRNPDL Gene
mRNA/cDNA for HNRNPDL Gene
- (3) REFSEQ mRNAs :
- (896) Selected AceView cDNA sequences:
- (10) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for HNRNPDL
-
Santa Cruz Biotechnology (SCBT) CRISPR for HNRNPDL
- GenScript: Design CRISPR guide RNA sequences for HNRNPDL
miRNA Products
- Search ViGene Biosciences for HNRNPDL
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for HNRNPDL
- Browse OriGene Inhibitory RNA Products For HNRNPDL
-
ViGene Biosciences ready-to-package AAV shRNAs for HNRNPDL gene
Clone Products
-
OriGene ORF clones in human for HNRNPDL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | · | 13c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
Expression for HNRNPDL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Nasal epithelium (9.0) and Fetal Brain (6.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HNRNPDL Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HNRNPDL Gene:
HNRNPDLmRNA Expression by UniProt/SwissProt for HNRNPDL Gene:
O14979-HNRDL_HUMAN
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 carcinoma, hepatoma, fibrosarcoma, colon adenocarcinoma, epidermoid carcinoma, osteosarcoma and urinary bladder carcinoma cells.
Evidence on tissue expression from TISSUES for HNRNPDL Gene
- Nervous system(5)
- Liver(4.8)
- Lung(4.8)
- Skin(4.6)
- Kidney(4)
- Intestine(3.9)
- Eye(3.7)
- Spleen(3.6)
- Pancreas(3.1)
- Blood(2.7)
- Stomach(2.6)
- Heart(2.5)
- Lymph node(2.3)
- Bone(2.2)
- Bone marrow(2.2)
- Muscle(2.2)
- Adrenal gland(2.1)
- Gall bladder(2.1)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPDL Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- eye
- head
Thorax:
- clavicle
- scapula
Pelvis:
- pelvis
Limb:
- arm
- digit
- finger
- foot
- hand
- humerus
- lower limb
- shoulder
- toe
- upper limb
Primer Products
-
OriGene qPCR primer pairs for HNRNPDL
-
OriGene qPCR primer pairs and template standards for HNRNPDL
No data available for mRNA differential expression in normal tissues for HNRNPDL Gene
Orthologs for HNRNPDL Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| platypus (Ornithorhynchus anatinus) |
Mammalia | HNRNPDL 35 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | HNRPDL 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HNRNPDL 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | HNRPDL 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Hnrnpdl 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | HNRNPDL 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HNRNPDL 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hnrnpdl 34 |
|
||
| Str.7447 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC53310 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hnrpdl 34 35 |
|
||
| wufa11d08 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12196 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | sqd 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HRP1 35 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5495 35 |
|
ManyToMany | |
| CSA.10292 35 |
|
ManyToMany |
- Species where no ortholog for HNRNPDL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for HNRNPDL Gene
Paralogs for HNRNPDL Gene
(10) SIMAP similar genes for HNRNPDL Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for HNRNPDL Gene
Variants for HNRNPDL Gene
| SNP ID | Clin | Chr 04 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs587777669 | Pathogenic, Limb-girdle muscular dystrophy 1G (LGMD1G) [MIM:609115], Limb-girdle muscular dystrophy 1G (LGMD1G) [MIM:609115] | 82,426,523(+) | ATAAT(C/G/T)ATATC | intron-variant, nc-transcript-variant, reference, missense | |
| rs1057519137 | Uncertain significance | 82,426,547(-) | ATCAA(A/C)ACTAT | intron-variant, nc-transcript-variant, reference, missense | |
| rs1057519138 | Uncertain significance | 82,429,578(-) | CCGCG(-/GCCGCCGCGGCAGCT)AGCCC | nc-transcript-variant, upstream-variant-2KB, cds-indel | |
| rs10002169 | -- | 82,429,944(+) | GCGGC(A/G)GCCGC | nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime | |
| rs1000840435 | -- | 82,428,953(+) | AGCGT(A/G)CAGCG | intron-variant, upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2727892 | CNV | deletion | 23290073 |
| esv2727893 | CNV | deletion | 23290073 |
| esv2727894 | CNV | deletion | 23290073 |
| nsv822632 | CNV | gain | 20364138 |
| nsv829988 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
26.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.61;
45.21% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HNRNPDL Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNRNPDL Gene
Disorders for HNRNPDL Gene
(18) MalaCards diseases for HNRNPDL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| limb-girdle muscular dystrophy, type 1g |
|
|
| chromosome 4q21 deletion syndrome |
|
|
| muscular dystrophy, limb-girdle, type 1h |
|
|
| muscular dystrophy, limb-girdle, type 2q |
|
|
| muscular dystrophy, limb-girdle, type 1f |
|
|
Search HNRNPDL in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HNRDL_HUMAN- Limb-girdle muscular dystrophy 1G (LGMD1G) [MIM:609115]: An autosomal dominant degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD1G is characterized by a mild late-onset and is associated with progressive fingers and toes flexion limitation. Affected individuals may also develop cataracts before age 50. {ECO:0000269 PubMed:24647604}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for HNRNPDL
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- HNRNPDL
No data available for Genatlas for HNRNPDL Gene
Publications for HNRNPDL Gene
- Two forms of expression and genomic structure of the human heterogeneous nuclear ribonucleoprotein D-like JKTBP gene (HNRPDL). (PMID: 10072754) Kamei D. … Yamada M. (Gene 1999) 2 3 4 22 64
- Molecular cloning of the cDNA encoding A + U-rich element RNA binding factor. (PMID: 9524220) Doi A. … Fujita S. (Biochim. Biophys. Acta 1998) 2 3 4 64
- A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). (PMID: 24647604) Vieira N.M. … Zatz M. (Hum. Mol. Genet. 2014) 3 4 64
- Overexpression of JKTBP1 induces androgen-independent LNCaP cell proliferation through activation of epidermal growth factor-receptor (EGF-R). (PMID: 18381662) Wu Y.Y. … Wei Y.Q. (Cell Biochem. Funct. 2008) 3 22 64
- Regulation of murine cytochrome c oxidase Vb gene expression during myogenesis: YY-1 and heterogeneous nuclear ribonucleoprotein D-like protein (JKTBP1) reciprocally regulate transcription activity by physical interaction with the BERF-1/ZBP-89 factor. (PMID: 15190078) Boopathi E. … Avadhani N.G. (J. Biol. Chem. 2004) 3 4 64
Products for HNRNPDL Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
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- antibodies-online Antibodies for HNRNPDL: See all 36
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- GeneTex HNRNPDL antibody for HNRNPDL
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- ViGene Biosciences adenoviral particle packaged cDNA for HNRNPDL gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for HNRNPDL
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- Mammalian expression: PiggyBac
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- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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