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Aliases for GRAMD1B Gene
Aliases for GRAMD1B Gene
External Ids for GRAMD1B Gene
- HGNC: 29214
- NCBI Entrez Gene: 57476
- Ensembl: ENSG00000023171
- UniProtKB/Swiss-Prot: Q3KR37
Previous HGNC Symbols for GRAMD1B Gene
- LINC01059
Previous GeneCards Identifiers for GRAMD1B Gene
- GC11P122903
- GC11U900713
- GC11P123396
- GC11P119338
Summaries for GRAMD1B Gene
GeneCards Summary for GRAMD1B Gene
GRAMD1B (GRAM Domain Containing 1B) is a Protein Coding gene. Diseases associated with GRAMD1B include Disease Of Mental Health and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Ectoderm Differentiation. An important paralog of this gene is GRAMD1A.
UniProtKB/Swiss-Prot Summary for GRAMD1B Gene
-
Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis in the adrenal gland and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity).
Additional gene information for GRAMD1B Gene
- HGNC (29214)
- NCBI Entrez Gene (57476)
- Ensembl (ENSG00000023171)
- UniProtKB/Swiss-Prot (Q3KR37)
- Open Targets Platform(ENSG00000023171)
- Monarch Initiative
- Alliance of Genome Resources
- Search for GRAMD1B at DataMed
- Search for GRAMD1B at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GRAMD1B Gene
Genomics for GRAMD1B Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GRAMD1B 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 GRAMD1B on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GRAMD1B
- Top Transcription factor binding sites by QIAGEN in the GRAMD1B gene promoter:
-
- AhR
- Arnt
- Bach1
- FOXL1
- GATA-2
- Lmo2
- MIF-1
- Nkx2-5
- Pax-5
- POU6F1 (c2)
Genomic Locations for GRAMD1B Gene
Latest Assembly
- chr11:123,358,299-123,627,774
- (GRCh38/hg38)
- Size:
- 269,476 bases
- Orientation:
- Plus strand
Previous Assembly
- chr11:123,229,130-123,498,475
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 269,346 bases
- Orientation:
- Plus strand
Genomic View for GRAMD1B Gene
Genes around GRAMD1B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q24.1 by HGNC
- 11q24.1 by Entrez Gene
- 11q24.1 by Ensembl
GRAMD1B 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 GRAMD1B Gene
Proteins for GRAMD1B Gene
-
Protein details for GRAMD1B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q3KR37-ASTRB_HUMAN
- Recommended name:
- Protein Aster-B
- Protein Accession:
- Q3KR37
- B3KXJ5
- E7EPH8
- Q6UW85
- Q9ULL9
Protein attributes for GRAMD1B Gene
- Size:
- 738 amino acids
- Molecular mass:
- 85400 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA86515.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for GRAMD1B Gene
Post-translational modifications for GRAMD1B Gene
Other Protein References for GRAMD1B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005271676.1
- XP_005271681.2
- XP_006718955.1
- XP_011541228.1
- XP_011541231.1
- XP_011541232.1
- XP_011541233.1
- XP_011541235.1
- XP_016873528.1
- XP_016873529.1
- XP_016873532.1
- XP_016873534.1
- XP_016873535.1
- XP_016873540.1
- XP_024304390.1
- XP_024304391.1
- XP_024304392.1
- NP_001273492.1
- NP_001273493.1
- NP_001317325.1
- NP_001341766.1
- NP_001354347.1
- NP_001354348.1
- NP_001354349.1
- NP_001354350.1
- NP_001373953.1
- NP_001373954.1
- NP_001373955.1
- NP_001373957.1
- NP_001373958.1
- NP_001373959.1
- NP_001373960.1
- NP_001373961.1
- NP_001373962.1
- NP_001373963.1
- NP_001373964.1
- NP_065767.1
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for GRAMD1B
- Novus Biologicals Antibodies for GRAMD1B
- Invitrogen Antibodies for GRAMD1B (AFLGC-GRAMD1B)
- antibodies-online: Show 13 available GRAMD1B Antibodies ranked by validation data
Protein products for research
-
OriGene Purified Proteins for GRAMD1B
- Search Origene for MassSpec and Protein Over-expression Lysates for GRAMD1B
- Origene Custom Protein Services for GRAMD1B
- Novus Biologicals proteins for GRAMD1B
Assay products for research
No data available for DME Specific Peptides for GRAMD1B Gene
Domains & Families for GRAMD1B Gene
Gene Families for GRAMD1B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
- Transporters
Protein Domains for GRAMD1B Gene
- InterPro:
- Blocks:
-
- GRAM domain
Suggested Antigen Peptide Sequences for GRAMD1B Gene
- GenScript: Design optimal peptide antigens:
-
- GRAM domain-containing protein 1B (GRM1B_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q3KR37UniProtKB/Swiss-Prot:
ASTRB_HUMAN :- GRAM domain binds phosphatidylserine in the PM and mediates protein recruitment to endoplasmic reticulum-plasma membrane contact sites (EPCS) in response to excess cholesterol in the PM.
- Domain:
-
- GRAM domain binds phosphatidylserine in the PM and mediates protein recruitment to endoplasmic reticulum-plasma membrane contact sites (EPCS) in response to excess cholesterol in the PM.
- VASt (VAD1 Analog of StAR-related lipid transfer) domain, also known as ASTER (Greek for star) domain is a sterol-binding domain.
Function for GRAMD1B Gene
Molecular function for GRAMD1B Gene
- UniProtKB/Swiss-Prot Function:
- Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (By similarity). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (By similarity). Plays a crucial role in cholesterol homeostasis in the adrenal gland and has the unique ability to localize to the PM based on the level of membrane cholesterol (By similarity). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (By similarity). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (By similarity).
Phenotypes From GWAS Catalog for GRAMD1B Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001786 | phosphatidylserine binding | ISS | -- |
| GO:0008289 | lipid binding | IEA | -- |
| GO:0015485 | cholesterol binding | ISS | -- |
| GO:0070300 | phosphatidic acid binding | ISS | -- |
| GO:0120020 | intermembrane cholesterol transfer activity | ISS | -- |
Phenotypes for GRAMD1B Gene
- MGI mutant phenotypes for GRAMD1B:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for GRAMD1B:
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 GRAMD1B - Starting at $85 >
- * GRAMD1B 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 GRAMD1B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRAMD1B
-
Santa Cruz Biotechnology (SCBT) CRISPR for GRAMD1B
miRNA for GRAMD1B Gene
- miRTarBase miRNAs that target GRAMD1B
-
- mmu-miR-7b-5p (MIRT009285)
- mmu-let-7b-5p (MIRT012181)
- mmu-miR-19b-3p (MIRT012509)
- mmu-miR-149-5p (MIRT014621)
- mmu-miR-9-5p (MIRT015336)
- hsa-miR-1277-5p (MIRT523403)
- hsa-miR-3686 (MIRT523404)
- hsa-miR-6083 (MIRT523405)
- hsa-miR-190a-3p (MIRT523406)
- hsa-miR-601 (MIRT523407)
- hsa-miR-4778-5p (MIRT523408)
- hsa-miR-4742-3p (MIRT523409)
- hsa-miR-8076 (MIRT523410)
- hsa-miR-5011-5p (MIRT523411)
- hsa-miR-6873-3p (MIRT607257)
- hsa-miR-4436b-5p (MIRT607258)
- hsa-miR-6509-3p (MIRT607259)
- hsa-miR-1236-3p (MIRT607260)
- hsa-miR-6515-3p (MIRT607261)
- hsa-miR-6817-3p (MIRT607262)
- hsa-miR-7110-3p (MIRT607263)
- hsa-miR-1273g-3p (MIRT612916)
- hsa-miR-181a-2-3p (MIRT612917)
- hsa-miR-99b-3p (MIRT613467)
- hsa-miR-99a-3p (MIRT613468)
- hsa-miR-2861 (MIRT628178)
- hsa-miR-1238-3p (MIRT716043)
- hsa-miR-670-3p (MIRT716044)
- hsa-miR-4279 (MIRT716045)
- hsa-miR-6881-3p (MIRT716046)
- hsa-miR-6749-3p (MIRT716047)
- hsa-miR-6792-3p (MIRT716048)
- hsa-miR-4691-5p (MIRT716049)
- hsa-miR-2116-3p (MIRT716050)
- hsa-miR-877-3p (MIRT716051)
- hsa-miR-32-5p (MIRT727526)
- hsa-miR-92b-3p (MIRT727527)
- hsa-miR-92a-3p (MIRT727528)
- hsa-miR-1227-5p (MIRT736168)
- hsa-miR-128-1-5p (MIRT736975)
- hsa-miR-128-2-5p (MIRT736994)
- hsa-miR-2278 (MIRT739132)
- hsa-miR-4640-5p (MIRT746327)
- hsa-miR-4726-5p (MIRT747756)
- hsa-miR-4786-5p (MIRT748874)
- hsa-miR-6165 (MIRT752504)
- hsa-miR-6501-3p (MIRT752899)
- hsa-miR-6762-5p (MIRT754983)
- hsa-miR-6845-5p (MIRT757410)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRAMD1B
- Browse OriGene Inhibitory RNA Products For GRAMD1B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRAMD1B
Clone products for research
- Applied Biological Materials (abm): Clones for GRAMD1B - Starting at $45 >
- * GRAMD1B 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 GRAMD1B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRAMD1B
Cell Lines for research
-
Horizon Cell Lines for GRAMD1B
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GRAMD1B Gene
Localization for GRAMD1B Gene
Subcellular locations from UniProtKB/Swiss-Prot for GRAMD1B Gene
- Endoplasmic reticulum membrane. Single-pass membrane protein. Cell membrane. Single-pass membrane protein. Note=In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS). {ECO:0000269 PubMed:30220461}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 3 |
| cytoskeleton | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Endoplasmic reticulum (3)
- Plasma membrane (3)
- Vesicles (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA | -- |
| GO:0005789 | endoplasmic reticulum membrane | IEA,IDA | 30220461 |
| GO:0005886 | plasma membrane | IEA,IDA | 30220461 |
| GO:0016020 | membrane | IEA,HDA | 19946888 |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for GRAMD1B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Ectoderm Differentiation | ||
Pathways by source for GRAMD1B Gene
1 BioSystems pathway for GRAMD1B Gene
Interacting Proteins for GRAMD1B Gene
GPS-Prot Interaction Network for GRAMD1B
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006869 | lipid transport | IEA | -- |
| GO:0015918 | sterol transport | IEA | -- |
| GO:0042632 | cholesterol homeostasis | ISS | -- |
| GO:0071397 | cellular response to cholesterol | ISS | -- |
| GO:0120009 | intermembrane lipid transfer | IEA | -- |
No data available for SIGNOR curated interactions for GRAMD1B Gene
Drugs & Compounds for GRAMD1B Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| lithium | Experimental | Pharma | 0 |
Transcripts for GRAMD1B Gene
mRNA/cDNA for GRAMD1B Gene
- 20 REFSEQ mRNAs :
- 21 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000322282 2571 nts (view in UCSC)
- ENST00000450171 2431 nts (view in UCSC)
- ENST00000456860 2805 nts (view in UCSC)
- ENST00000525757 2471 nts (view in UCSC)
- ENST00000525945 1046 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for GRAMD1B - Starting at $85 >
- * GRAMD1B 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 GRAMD1B
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRAMD1B
-
Santa Cruz Biotechnology (SCBT) CRISPR for GRAMD1B
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRAMD1B
- Browse OriGene Inhibitory RNA Products For GRAMD1B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRAMD1B
Clone products for research
- Applied Biological Materials (abm): Clones for GRAMD1B - Starting at $45 >
- * GRAMD1B 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 GRAMD1B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRAMD1B
Relevant External Links for GRAMD1B Gene
- GeneLoc Exon Structure for
- GRAMD1B
Expression for GRAMD1B Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Placenta (Extraembryonic Tissues)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for GRAMD1B Gene
This gene is overexpressed in Brain - Cerebellum (x8.7), Brain - Cerebellar Hemisphere (x8.3), and Adrenal Gland (x6.3).
This gene is overexpressed in Adrenal (45.1) and Testis (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GRAMD1B Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GRAMD1B
SOURCE GeneReport for Unigene cluster for GRAMD1B Gene:
Hs.144725Evidence on tissue expression from TISSUES for GRAMD1B Gene
- Nervous system(4.7)
- Adrenal gland(2.3)
Primer products for research
-
OriGene qPCR primer pairs for GRAMD1B
Gene Expression Assays for research
No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GRAMD1B Gene
Orthologs for GRAMD1B Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GRAMD1B 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GRAMD1B 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GRAMD1B 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Gramd1b 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gramd1b 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GRAMD1B 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GRAMD1B 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GRAMD1B 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GRAMD1B 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gramd1b 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | GRAMD1B (1 of 2) 30 |
|
OneToMany | |
| gramd1b 29 |
|
||||
| GRAMD1B (2 of 2) 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG30284 30 |
|
ManyToMany | |
| CG34394 30 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | ZC328.3 30 |
|
OneToMany | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 30 |
|
ManyToMany | |
| YSP2 30 |
|
ManyToMany |
- Species where no ortholog for GRAMD1B was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- 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 GRAMD1B Gene
- ENSEMBL:
- Gene Tree for GRAMD1B (if available)
- TreeFam:
- Gene Tree for GRAMD1B (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GRAMD1B: view image
- Alliance of Genome Resources:
- Additional Orthologs for GRAMD1B
Paralogs for GRAMD1B Gene
Variants for GRAMD1B Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GRAMD1B Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 996583 | Likely Pathogenic: Intellectual disability | 123,594,776(+) |
C/T NM_020716.4(GRAMD1B):c.382C>T (p.Arg128Ter) |
NONSENSE | |
| rs114589175 | Benign: not provided | 123,605,400(+) |
T/A NM_001286563.2(GRAMD1B):c.837T>A (p.Asp279Glu) |
MISSENSE | |
| rs62641671 | Benign: not provided | 123,613,540(+) |
G/A NM_001286563.2(GRAMD1B):c.1701G>A (p.Thr567=) |
SYNONYMOUS | |
| rs75493628 | Benign: not provided | 123,605,469(+) |
C/T NM_001286563.2(GRAMD1B):c.906C>T (p.Ala302=) |
SYNONYMOUS |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1010432 | CNV | deletion | 20482838 |
| esv2603228 | CNV | insertion | 19546169 |
| esv2663701 | CNV | deletion | 23128226 |
| esv2759868 | CNV | loss | 17122850 |
| esv3449847 | CNV | duplication | 20981092 |
| nsv513339 | CNV | insertion | 21212237 |
| nsv528 | CNV | insertion | 18451855 |
| nsv556483 | CNV | gain | 21841781 |
| nsv972081 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
42.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.02;
37.18% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GRAMD1B Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GRAMD1B Gene
Disorders for GRAMD1B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| disease of mental health |
|
|
| alacrima, achalasia, and mental retardation syndrome |
|
Search GRAMD1B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for GRAMD1B
- 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 GRAMD1B Gene
Publications for GRAMD1B Gene
- Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4
- Molecular basis of accessible plasma membrane cholesterol recognition by the GRAM domain of GRAMD1b. (PMID: 33604931) Ercan B … Saheki Y (The EMBO journal 2021) 2 3
- Aster Proteins Facilitate Nonvesicular Plasma Membrane to ER Cholesterol Transport in Mammalian Cells. (PMID: 30220461) Sandhu J … Tontonoz P (Cell 2018) 3 4
- Genetic susceptibility variants for chronic lymphocytic leukemia. (PMID: 20332261) Slager SL … Cerhan JR (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 40
- Genetic susceptibility for chronic lymphocytic leukemia among Chinese in Hong Kong. (PMID: 20731705) Lan Q … Rothman N (European journal of haematology 2010) 3 40
ExternalLinks
Products for GRAMD1B Gene
- Custom Antibody ServicesOriGene Antibodies for GRAMD1B
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GRAMD1B
- Search Origene for MassSpec and Protein Over-expression Lysates for GRAMD1B
- Origene Custom Protein Services for GRAMD1B
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GRAMD1B
- Browse OriGene Inhibitory RNA Products For GRAMD1B
- OriGene qPCR primer pairs for GRAMD1B
- OriGene CRISPR knockouts for GRAMD1B
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GRAMD1B
- Sino Biological Human cDNA Clone for GRAMD1B
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- 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 GRAMD1B
- Novus Biologicals proteins for GRAMD1B
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for GRAMD1B (AFLGC-GRAMD1B)
- VectorBuilder Custom and pre-made DNA vectors for GRAMD1B (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GRAMD1B (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GRAMD1B (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GRAMD1B CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GRAMD1B
- antibodies-online: Show 13 available GRAMD1B Antibodies ranked by validation data
- antibodies-online: Search results for available GRAMD1B related products ranked by validation data
- antibodies-online: Search results for available GRAMD1B related products ranked by validation data
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for GRAMD1B siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GRAMD1B
- Horizon Cell Lines for GRAMD1B
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GRAMD1B
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GRAMD1B
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GRAMD1B
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GRAMD1B
Sources for GRAMD1B Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources