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The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016] See more...
Aliases for HDLBP Gene
Aliases for HDLBP Gene
External Ids for HDLBP Gene
- HGNC: 4857
- NCBI Entrez Gene: 3069
- Ensembl: ENSG00000115677
- OMIM®: 142695
- UniProtKB/Swiss-Prot: Q00341
Previous HGNC Symbols for HDLBP Gene
- VGL
Previous GeneCards Identifiers for HDLBP Gene
- GC02P239181
- GC02P240038
- GC02M242188
- GC02M242489
- GC02M242488
- GC02M241888
- GC02M233922
- GC02M242166
Summaries for HDLBP Gene
-
The protein encoded by this gene binds high density lipoprotein (HDL) and may function to regulate excess cholesterol levels in cells. The encoded protein also binds RNA and can induce heterochromatin formation. [provided by RefSeq, Mar 2016]
GeneCards Summary for HDLBP Gene
HDLBP (High Density Lipoprotein Binding Protein) is a Protein Coding gene. Diseases associated with HDLBP include Epilepsy, Idiopathic Generalized 5 and Chromosome 2Q37 Deletion Syndrome. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is BICC1.
UniProtKB/Swiss-Prot Summary for HDLBP Gene
-
Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol.
Additional gene information for HDLBP Gene
- HGNC (4857)
- NCBI Entrez Gene (3069)
- Ensembl (ENSG00000115677)
- OMIM® (142695)
- UniProtKB/Swiss-Prot (Q00341)
- Open Targets Platform(ENSG00000115677)
- Monarch Initiative
- Search for HDLBP at DataMed
- Search for HDLBP at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HDLBP Gene
Genomics for HDLBP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for HDLBP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around HDLBP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HDLBP
- Top Transcription factor binding sites by QIAGEN in the HDLBP gene promoter:
-
- c-Myc
- Max
- Max1
- Nkx3-1
- Nkx3-1 v1
- Nkx3-1 v2
- Nkx3-1 v3
- Nkx3-1 v4
Genomic Locations for HDLBP Gene
Latest Assembly
- chr2:241,227,264-241,317,061
- (GRCh38/hg38)
- Size:
- 89,798 bases
- Orientation:
- Minus strand
Previous Assembly
- chr2:242,166,706-242,255,087
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 88,382 bases
- Orientation:
- Minus strand
- chr2:242,166,679-242,256,476
- (GRCh37/hg19 by Ensembl)
- Size:
- 89,798 bases
- Orientation:
- Minus strand
Genomic View for HDLBP Gene
Genes around HDLBP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q37.3 by HGNC
- 2q37.3 by Entrez Gene
- 2q37.3 by Ensembl
HDLBP 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 HDLBP Gene
Proteins for HDLBP Gene
-
Protein details for HDLBP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q00341-VIGLN_HUMAN
- Recommended name:
- Vigilin
- Protein Accession:
- Q00341
- B4DTQ2
- E7EM71
- Q53QU2
- Q9UCY3
Protein attributes for HDLBP Gene
- Size:
- 1268 amino acids
- Molecular mass:
- 141456 Da
- Quaternary structure:
- No Data Available
Three dimensional structures from OCA and Proteopedia for HDLBP Gene
Protein Expression for HDLBP Gene
Post-translational modifications for HDLBP Gene
Other Protein References for HDLBP Gene
- ENSEMBL proteins:
-
- ENSP00000375836
- ENSP00000375837
- ENSP00000312042
- ENSP00000362389
- ENSP00000411211
- ENSP00000405180
- ENSP00000388876
- ENSP00000393766
- ENSP00000403807
- ENSP00000405109
- ENSP00000413891
- ENSP00000387782
- ENSP00000416559
- ENSP00000403913
- ENSP00000396964
- ENSP00000394205
- ENSP00000390290
- ENSP00000413805
- ENSP00000390942
- ENSP00000396202
- ENSP00000403693
- ENSP00000409868
- ENSP00000408582
- ENSP00000397799
- ENSP00000396959
- ENSP00000391773
- ENSP00000399139
- Q00341.198
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences HDLBP / Vigilin Antibody (LS-B1575) and HDLBP / Vigilin Antibody (LS-B11498)
- G Biosciences Immunotag™ HDLBP Antibody
-
Custom Antibody ServicesOriGene Antibodies for HDLBP
- Novus Biologicals Antibodies for HDLBP
-
Abcam antibodies for HDLBP
- Invitrogen Antibodies for HDLBP (AFLGC-HDLBP)
-
Boster Bio Antibodies for HDLBP
-
Santa Cruz Biotechnology (SCBT) Antibodies for HDLBP
- Sino Biological Antibodies for HDLBP
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for HDLBP
- Origene Custom Protein Services for HDLBP
- antibodies-online: Show 3 available HDLBP Proteins ranked by validation data
- Compare Top HDLBP Proteins
-
Quality Products:
Assay products for research
- G Biosciences Immunotag™ Human HDLBP (Vigilin) ELISA and Immunotag™ Vigilin ELISA Kit
- antibodies-online: Show 20 available HDLBP Elisa Kits ranked by validation data
- Compare Top HDLBP Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for HDLBP Gene
Domains & Families for HDLBP Gene
Gene Families for HDLBP Gene
- Human Protein Atlas (HPA):
-
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for HDLBP Gene
- InterPro:
- Blocks:
-
- KH domain
- KH, type 1
- ProtoNet:
Suggested Antigen Peptide Sequences for HDLBP Gene
- GenScript: Design optimal peptide antigens:
-
- HDLBP protein (Q2HJC8_HUMAN)
- HDLBP protein (Q96CF6_HUMAN)
- High density lipoprotein-binding protein (VIGLN_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for HDLBP Gene
Function for HDLBP Gene
Molecular function for HDLBP Gene
- UniProtKB/Swiss-Prot Function:
- Appears to play a role in cell sterol metabolism. It may function to protect cells from over-accumulation of cholesterol.
- GENATLAS Biochemistry:
- vigilin,high density lipoprotein binding protein
Phenotypes From GWAS Catalog for HDLBP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | HDA | 22658674 |
| GO:0003729 | mRNA binding | IBA | 21873635 |
| GO:0005515 | protein binding | IPI | 24725430 |
| GO:0008289 | lipid binding | TAS | 1318310 |
Phenotypes for HDLBP Gene
- MGI mutant phenotypes for HDLBP:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for HDLBP:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased vaccinia virus (VACV) infection
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased Aire reporter expression
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Increased replication of vaccinia virus (VACV)
- Decreased caspase 3/7 activity
- Increased Salmonella proliferation
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HDLBP - Starting at $85 >
- * HDLBP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HDLBP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HDLBP
-
Santa Cruz Biotechnology (SCBT) CRISPR for HDLBP
miRNA for HDLBP Gene
- miRTarBase miRNAs that target HDLBP
-
- hsa-miR-34a-5p (MIRT025358)
- hsa-miR-7-5p (MIRT025699)
- hsa-miR-1301-3p (MIRT035959)
- hsa-miR-877-3p (MIRT036841)
- hsa-miR-548d-5p (MIRT037779)
- hsa-miR-615-3p (MIRT039778)
- hsa-miR-484 (MIRT042063)
- hsa-miR-423-3p (MIRT042633)
- hsa-miR-365a-3p (MIRT044029)
- hsa-miR-222-3p (MIRT046605)
- hsa-miR-6757-5p (MIRT443865)
- hsa-miR-4753-5p (MIRT443866)
- hsa-miR-506-3p (MIRT443867)
- hsa-miR-548at-5p (MIRT443868)
- hsa-miR-124-3p (MIRT443869)
- hsa-miR-7150 (MIRT475748)
- hsa-miR-6739-5p (MIRT475749)
- hsa-miR-6799-5p (MIRT475750)
- hsa-miR-6733-5p (MIRT475751)
- hsa-miR-3153 (MIRT475752)
- hsa-miR-4668-5p (MIRT475753)
- hsa-miR-4736 (MIRT475754)
- hsa-miR-4763-3p (MIRT475755)
- hsa-miR-1207-5p (MIRT475756)
- hsa-miR-6851-5p (MIRT475757)
- hsa-miR-6797-5p (MIRT475758)
- hsa-miR-3689d (MIRT475759)
- hsa-miR-1249-5p (MIRT475760)
- hsa-miR-6077 (MIRT475761)
- hsa-miR-4722-5p (MIRT475762)
- hsa-miR-6134 (MIRT475763)
- hsa-miR-6133 (MIRT475764)
- hsa-miR-6130 (MIRT475765)
- hsa-miR-6129 (MIRT475766)
- hsa-miR-6127 (MIRT475767)
- hsa-miR-4510 (MIRT475768)
- hsa-miR-4419a (MIRT475769)
- hsa-miR-6868-5p (MIRT475770)
- hsa-miR-4756-5p (MIRT475771)
- hsa-miR-4459 (MIRT475772)
- hsa-miR-4739 (MIRT475773)
- hsa-miR-1321 (MIRT475774)
- hsa-miR-4779 (MIRT475775)
- hsa-miR-425-3p (MIRT493642)
- hsa-miR-7159-5p (MIRT493643)
- hsa-miR-505-3p (MIRT493644)
- hsa-miR-625-5p (MIRT493645)
- hsa-miR-6780b-5p (MIRT493646)
- hsa-miR-4271 (MIRT493647)
- hsa-miR-4725-3p (MIRT493648)
- hsa-miR-5196-5p (MIRT493649)
- hsa-miR-4747-5p (MIRT493650)
- hsa-miR-6861-3p (MIRT493651)
- hsa-miR-3202 (MIRT493652)
- hsa-miR-6790-3p (MIRT493653)
- hsa-miR-3179 (MIRT493654)
- hsa-miR-3065-5p (MIRT493655)
- hsa-miR-6794-5p (MIRT493656)
- hsa-miR-4716-3p (MIRT493657)
- hsa-miR-3649 (MIRT741868)
- hsa-miR-4734 (MIRT747975)
- hsa-miR-6752-3p (MIRT754609)
- hsa-miR-7106-3p (MIRT758822)
- hsa-miR-7113-3p (MIRT759093)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HDLBP
- Browse OriGene Inhibitory RNA Products For HDLBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HDLBP
Clone products for research
- Applied Biological Materials (abm): Clones for HDLBP - Starting at $45 >
- * HDLBP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HDLBP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HDLBP
Cell Lines for research
-
Horizon Cell Lines for HDLBP
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HDLBP Gene
Localization for HDLBP Gene
Subcellular locations from UniProtKB/Swiss-Prot for HDLBP Gene
- Cytoplasm. Nucleus.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 4 |
| nucleus | 4 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IBA | 21873635 |
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005844 | polysome | IBA | 21873635 |
| GO:0005886 | plasma membrane | TAS | -- |
Pathways & Interactions for HDLBP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Metabolism |
.40
|
|
Pathways by source for HDLBP Gene
5 Reactome pathways for HDLBP Gene
Interacting Proteins for HDLBP Gene
Selected Interacting proteins:
Q00341-VIGLN_HUMAN
ENSP00000375836
for HDLBP Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for HDLBP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006869 | lipid transport | IEA | -- |
| GO:0008202 | steroid metabolic process | IEA | -- |
| GO:0008203 | cholesterol metabolic process | TAS,IEA | -- |
| GO:0034384 | high-density lipoprotein particle clearance | TAS | -- |
No data available for SIGNOR curated interactions for HDLBP Gene
Transcripts for HDLBP Gene
mRNA/cDNA for HDLBP Gene
- 6 REFSEQ mRNAs :
- 31 NCBI additional mRNA sequence :
- 47 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000310931 6349 nts (view in UCSC)
- ENST00000373292 3297 nts (view in UCSC)
- ENST00000391975 6372 nts (view in UCSC)
- ENST00000391976 4489 nts (view in UCSC)
- ENST00000413241 581 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for HDLBP - Starting at $85 >
- * HDLBP CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for HDLBP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HDLBP
-
Santa Cruz Biotechnology (SCBT) CRISPR for HDLBP
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HDLBP
- Browse OriGene Inhibitory RNA Products For HDLBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HDLBP
Clone products for research
- Applied Biological Materials (abm): Clones for HDLBP - Starting at $45 >
- * HDLBP as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for HDLBP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HDLBP
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | ^ | 11a | · | 11b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| ExUns: | 11c | · | 11d | · | 11e | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18a | · | 18b | · | 18c | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | ^ | 22a | · | 22b | · | 22c | ^ | 23 | ^ | 24a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| ExUns: | 24b | ^ | 25a | · | 25b | · | 25c | · | 25d | ^ | 26a | · | 26b | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b | ^ | 33a | · | 33b | ^ | 34 | ^ | 35a | · | 35b | · | 35c | ^ | 36a | · | 36b | ^ | 37 |
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Relevant External Links for HDLBP Gene
- GeneLoc Exon Structure for
- HDLBP
Expression for HDLBP Gene
This gene is overexpressed in Bone marrow stromal cell (15.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HDLBP Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HDLBP
SOURCE GeneReport for Unigene cluster for HDLBP Gene:
Hs.471851Evidence on tissue expression from TISSUES for HDLBP Gene
- Liver(4.9)
- Nervous system(4.9)
- Muscle(4.8)
- Skin(4.7)
- Lung(4.7)
- Intestine(4.6)
- Pancreas(4.6)
- Kidney(4.3)
- Eye(4.3)
- Stomach(4.1)
- Heart(3.5)
- Bone(2.7)
- Adrenal gland(2.4)
- Blood(2.3)
- Thyroid gland(2.1)
- Gall bladder(2)
Primer products for research
-
OriGene qPCR primer pairs for HDLBP
-
OriGene qPCR primer pairs and template standards for HDLBP
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HDLBP Gene
Orthologs for HDLBP Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | HDLBP 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | HDLBP 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | HDLBP 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Hdlbp 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Hdlbp 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | HDLBP 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | HDLBP 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | HDLBP 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | HDLBP 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | hdlbp 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | hdlbp-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hdlbpa 30 31 |
|
OneToOne | |
| hdlbp 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10616 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005467 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Dp1 30 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_C08H9.2 30 |
|
||
| C08H9.2 31 32 |
|
OneToOne | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SCP160 31 33 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.4516 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4245 30 |
|
- Species where no ortholog for HDLBP was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- 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)
Evolution for HDLBP Gene
- ENSEMBL:
- Gene Tree for HDLBP (if available)
- TreeFam:
- Gene Tree for HDLBP (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HDLBP: view image
Paralogs for HDLBP Gene
(1) SIMAP similar genes for HDLBP Gene using alignment to 27 proteins:
- VIGLN_HUMAN
- C9J5E5_HUMAN
- C9J739_HUMAN
- C9JB08_HUMAN
- C9JBS3_HUMAN
- C9JE93_HUMAN
- C9JEJ8_HUMAN
- C9JES8_HUMAN
- C9JHN6_HUMAN
- C9JHS7_HUMAN
- C9JHS9_HUMAN
- C9JHZ8_HUMAN
- C9JIZ1_HUMAN
- C9JK79_HUMAN
- C9JKQ5_HUMAN
- C9JMQ6_HUMAN
- C9JQ82_HUMAN
- C9JT62_HUMAN
- C9JZI8_HUMAN
- H0Y394_HUMAN
- H7BZC3_HUMAN
- H7C0A4_HUMAN
- H7C2D1_HUMAN
- H7C3D0_HUMAN
- L8ECQ0_HUMAN
- Q2HJC8_HUMAN
- Q96CF6_HUMAN
Pseudogenes.org Pseudogenes for HDLBP Gene
Variants for HDLBP Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HDLBP Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs113425118 | Benign: not provided | 241,240,105(-) |
A/G NM_005336.5(HDLBP):c.2187T>C (p.Thr729=) |
SYNONYMOUS | |
| rs115571292 | Benign: not provided | 241,240,094(-) |
C/T NM_005336.5(HDLBP):c.2198G>A (p.Arg733His) |
MISSENSE | |
| rs141981790 | Likely Benign: not provided | 241,242,601(-) |
G/T NM_005336.5(HDLBP):c.2028C>A (p.Ile676=) |
SYNONYMOUS | |
| rs142118765 | Likely Benign: not provided | 241,242,619(-) |
G/T NM_005336.5(HDLBP):c.2010C>A (p.Gly670=) |
SYNONYMOUS | |
| rs143391993 | Benign: not provided | 241,239,892(-) |
G/A NM_005336.5(HDLBP):c.2391+9C>T |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2675219 | CNV | deletion | 23128226 |
| esv3594822 | CNV | loss | 21293372 |
| esv3594823 | CNV | gain | 21293372 |
| esv3594825 | CNV | gain | 21293372 |
| nsv1118901 | CNV | deletion | 24896259 |
| nsv215143 | CNV | deletion | 16902084 |
| nsv3242 | CNV | insertion | 18451855 |
| nsv470532 | CNV | loss | 18288195 |
| nsv508900 | CNV | insertion | 20534489 |
| nsv524008 | CNV | gain | 19592680 |
| nsv584955 | CNV | loss | 21841781 |
| nsv584956 | CNV | loss | 21841781 |
| nsv584957 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
3.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.43;
42.87% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HDLBP Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HDLBP Gene
Disorders for HDLBP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epilepsy, idiopathic generalized 5 |
|
|
| chromosome 2q37 deletion syndrome |
|
|
Search HDLBP in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for HDLBP
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for HDLBP Gene
Publications for HDLBP Gene
- Cloning and expression of a cellular high density lipoprotein-binding protein that is up-regulated by cholesterol loading of cells. (PMID: 1318310) McKnight GL … Holly R (The Journal of biological chemistry 1992) 2 3 4 23
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study. (PMID: 20442750) Newby PR … Gough SC (European journal of human genetics : EJHG 2010) 3 41
- Candidate genetic analysis of plasma high-density lipoprotein-cholesterol and severity of coronary atherosclerosis. (PMID: 19878569) Chen SN … Marian AJ (BMC medical genetics 2009) 3 41
- [VIGILIN involves in regulation of imprinting gene IGF2 and H19 in human hepatocellular carcinoma cell]. (PMID: 19950580) Ge YJ … Qin Y (Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2009) 3 23
ExternalLinks
Products for HDLBP Gene
- Custom Antibody ServicesOriGene Antibodies for HDLBP
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for HDLBP
- Origene Custom Protein Services for HDLBP
- Origene shrna, sirna, and RNAi products in human, mouse, rat for HDLBP
- Browse OriGene Inhibitory RNA Products For HDLBP
- OriGene qPCR primer pairs for HDLBP
- OriGene qPCR primer pairs and template standards for HDLBP
- OriGene CRISPR knockouts for HDLBP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For HDLBP
- Sino Biological Human cDNA Clone for HDLBP
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for HDLBP
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for HDLBP
- Novus Biologicals proteins and lysates for HDLBP
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for HDLBP
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for HDLBP (AFLGC-HDLBP)
- VectorBuilder Custom and pre-made DNA vectors for HDLBP (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for HDLBP (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for HDLBP (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for HDLBP CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for HDLBP
- antibodies-online: Show 21 available HDLBP Antibodies ranked by validation data
- Compare Top HDLBP Antibodies
- antibodies-online: Show 20 available HDLBP Elisa Kits ranked by validation data
- Compare Top HDLBP Elisa Kits
- Quality Products:
- antibodies-online: Show 3 available HDLBP Proteins ranked by validation data
- Compare Top HDLBP Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for HDLBP
- Search Santa Cruz Biotechnology (SCBT) for HDLBP siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HDLBP
- Horizon Cell Lines for HDLBP
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HDLBP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HDLBP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for HDLBP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HDLBP
- Boster Bio Antibodies for HDLBP
- Browse Boster Bio ELISA Kits
Sources for HDLBP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB