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Aliases for DENND4C Gene
Aliases for DENND4C Gene
External Ids for DENND4C Gene
- HGNC: 26079
- NCBI Entrez Gene: 55667
- Ensembl: ENSG00000137145
- UniProtKB/Swiss-Prot: Q5VZ89
Previous HGNC Symbols for DENND4C Gene
- C9orf55B
- C9orf55
Previous GeneCards Identifiers for DENND4C Gene
- GC09P019281
- GC09P019252
- GC09P019289
Summaries for DENND4C Gene
GeneCards Summary for DENND4C Gene
DENND4C (DENN Domain Containing 4C) is a Protein Coding gene. Diseases associated with DENND4C include Alkuraya-Kucinskas Syndrome and Koolen-De Vries Syndrome. Among its related pathways are Vesicle-mediated transport and RAB GEFs exchange GTP for GDP on RABs. Gene Ontology (GO) annotations related to this gene include Rab guanyl-nucleotide exchange factor activity. An important paralog of this gene is DENND4A.
UniProtKB/Swiss-Prot Summary for DENND4C Gene
-
Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin.
Additional gene information for DENND4C Gene
- HGNC (26079)
- NCBI Entrez Gene (55667)
- Ensembl (ENSG00000137145)
- UniProtKB/Swiss-Prot (Q5VZ89)
- Open Targets Platform(ENSG00000137145)
- Alliance of Genome Resources
- Search for DENND4C at DataMed
- Search for DENND4C 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 DENND4C Gene
Genomics for DENND4C Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DENND4C 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 DENND4C on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DENND4C
- Top Transcription factor binding sites by QIAGEN in the DENND4C gene promoter:
-
- AML1a
- AREB6
- c-Ets-1
- FOXF2
- FOXJ2
- FOXJ2 (long isoform)
- GATA-6
- HFH-1
- Ik-3
- ISGF-3
Genomic Locations for DENND4C Gene
Latest Assembly
- chr9:19,230,435-19,374,281
- (GRCh38/hg38)
- Size:
- 143,847 bases
- Orientation:
- Plus strand
Previous Assembly
- chr9:19,230,511-19,374,279
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 143,769 bases
- Orientation:
- Plus strand
Genomic View for DENND4C Gene
Genes around DENND4C on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9p22.1 by HGNC
- 9p22.1 by Entrez Gene
- 9p22.1 by Ensembl
DENND4C 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 DENND4C Gene
Proteins for DENND4C Gene
-
Protein details for DENND4C Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q5VZ89-DEN4C_HUMAN
- Recommended name:
- DENN domain-containing protein 4C
- Protein Accession:
- Q5VZ89
- A2A3R1
- A2A3R2
- A2A3R3
- A2A3R9
- Q6AI48
- Q6ZUB3
- Q8NCY7
- Q9H6N4
- Q9NUT1
- Q9NWA5
- Q9NWT3
- R4GN35
- R4GNB2
Protein attributes for DENND4C Gene
- Size:
- 1909 amino acids
- Molecular mass:
- 212711 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAA91294.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91478.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA92039.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15221.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC86313.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAH10466.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
Protein Expression for DENND4C Gene
Post-translational modifications for DENND4C Gene
- Phosphorylated in response to insulin.
-
Ubiquitination at Lys287
- NX_Q5VZ89 (NX_Q5VZ89-1)
- Modification sites at PhosphoSitePlus
Other Protein References for DENND4C Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011516261.1
- XP_016870408.1
- NP_001317569.1
- NP_001372955.1
- NP_001372959.1
- NP_001372960.1
- NP_001372961.1
- NP_001372963.1
- NP_001372964.1
- NP_001372965.1
- NP_001372966.1
- NP_001372967.1
- NP_001372968.1
- NP_001372969.1
- NP_001372970.1
- NP_001372971.1
- NP_001372972.1
- NP_001372973.1
- NP_001372974.1
- NP_001372975.1
- NP_001372976.1
- NP_001372977.1
- NP_060395.5
Antibodies for research
- Novus Biologicals Antibodies for DENND4C
- Invitrogen Antibodies for DENND4C (AFLGC-DENND4C)
- antibodies-online: Show 3 available DENND4C Antibodies ranked by validation data
-
Custom Antibody ServicesProSci Antibodies for DENND4C
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for DENND4C
- Origene Custom Protein Services for DENND4C
- Novus Biologicals proteins for DENND4C
Assay products for research
No data available for DME Specific Peptides for DENND4C Gene
Domains & Families for DENND4C Gene
Gene Families for DENND4C Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for DENND4C Gene
Suggested Antigen Peptide Sequences for DENND4C Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ53183 (B7Z660_HUMAN)
- DENN domain-containing protein 4C (DEN4C_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DENND4C Gene
Function for DENND4C Gene
Molecular function for DENND4C Gene
- UniProtKB/Swiss-Prot Function:
- Guanine nucleotide exchange factor (GEF) activating RAB10. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB10 into its active GTP-bound form. Thereby, stimulates SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the plasma membrane in response to insulin.
Phenotypes From GWAS Catalog for DENND4C Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IBA,IDA | 20937701 |
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for DENND4C Gene
- MGI mutant phenotypes for DENND4C:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DENND4C:
Animal Models for DENND4C Gene
- MGI Knock Outs for DENND4C:
-
- Dennd4c Dennd4c<tm1b(EUCOMM)Wtsi>
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 DENND4C - Starting at $85 >
- * DENND4C 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 DENND4C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DENND4C
-
Santa Cruz Biotechnology (SCBT) CRISPR for DENND4C
miRNA for DENND4C Gene
- miRTarBase miRNAs that target DENND4C
-
- mmu-miR-136-5p (MIRT015027)
- hsa-miR-5010-3p (MIRT443175)
- hsa-miR-2113 (MIRT443176)
- hsa-miR-4775 (MIRT443177)
- hsa-miR-550b-2-5p (MIRT443178)
- hsa-miR-1227-3p (MIRT443179)
- hsa-miR-5189-3p (MIRT443180)
- hsa-miR-4714-3p (MIRT443181)
- hsa-miR-7849-3p (MIRT443182)
- hsa-miR-590-3p (MIRT443183)
- hsa-miR-3978 (MIRT448880)
- hsa-miR-6124 (MIRT448881)
- hsa-miR-3148 (MIRT448882)
- hsa-miR-33a-3p (MIRT448883)
- hsa-miR-5582-3p (MIRT448884)
- hsa-miR-548x-3p (MIRT448885)
- hsa-miR-548j-3p (MIRT448886)
- hsa-miR-548aq-3p (MIRT448887)
- hsa-miR-548am-3p (MIRT448888)
- hsa-miR-548aj-3p (MIRT448889)
- hsa-miR-548ah-3p (MIRT448890)
- hsa-miR-548ae-3p (MIRT448891)
- hsa-miR-129-5p (MIRT499092)
- hsa-miR-4776-3p (MIRT499093)
- hsa-miR-1263 (MIRT499094)
- hsa-miR-150-3p (MIRT499095)
- hsa-miR-4659b-5p (MIRT499096)
- hsa-miR-4659a-5p (MIRT499097)
- hsa-miR-5590-5p (MIRT499098)
- hsa-miR-302f (MIRT499099)
- hsa-miR-5692a (MIRT499100)
- hsa-miR-633 (MIRT524189)
- hsa-miR-223-5p (MIRT524190)
- hsa-miR-496 (MIRT524191)
- hsa-miR-4781-3p (MIRT524192)
- mmu-miR-3471 (MIRT599182)
- mmu-miR-5125 (MIRT599183)
- mmu-miR-3110-5p (MIRT599184)
- hsa-miR-1304-3p (MIRT783672)
- hsa-miR-215-3p (MIRT784234)
- hsa-miR-3664-5p (MIRT785075)
- hsa-miR-3672 (MIRT785125)
- hsa-miR-4639-3p (MIRT786252)
- hsa-miR-6773-3p (MIRT788648)
- hsa-miR-6794-3p (MIRT788764)
- hsa-miR-6864-3p (MIRT789130)
- hsa-miR-6879-3p (MIRT789269)
- hsa-miR-8055 (MIRT789664)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DENND4C
- Browse OriGene Inhibitory RNA Products For DENND4C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DENND4C
Clone products for research
- Applied Biological Materials (abm): Clones for DENND4C - Starting at $45 >
- * DENND4C 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 DENND4C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DENND4C
Cell Lines for research
-
Horizon Cell Lines for DENND4C
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DENND4C Gene
Localization for DENND4C Gene
Subcellular locations from UniProtKB/Swiss-Prot for DENND4C Gene
- Cytoplasmic vesicle membrane. Cell membrane. Cytoplasm, cytosol. Note=Associates with SLC2A4/GLUT4 storage vesicles.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| golgi apparatus | 4 |
| endosome | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Cytosol (3)
- Golgi apparatus (3)
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005794 | Golgi apparatus | IDA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0005886 | plasma membrane | ISS | -- |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for DENND4C Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Vesicle-mediated transport | ||
| 2 | RAB GEFs exchange GTP for GDP on RABs | ||
Pathways by source for DENND4C Gene
3 Reactome pathways for DENND4C Gene
Interacting Proteins for DENND4C Gene
GPS-Prot Interaction Network for DENND4C
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0015031 | protein transport | IEA | -- |
| GO:0032483 | regulation of Rab protein signal transduction | IBA | 21873635 |
| GO:0032869 | cellular response to insulin stimulus | ISS | -- |
| GO:0050790 | regulation of catalytic activity | IEA | -- |
| GO:0072659 | protein localization to plasma membrane | ISS | -- |
No data available for SIGNOR curated interactions for DENND4C Gene
Transcripts for DENND4C Gene
mRNA/cDNA for DENND4C Gene
- 21 REFSEQ mRNAs :
- 19 NCBI additional mRNA sequence :
- 9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000361024 3463 nts (view in UCSC)
- ENST00000380424 1547 nts (view in UCSC)
- ENST00000380427 3479 nts (view in UCSC)
- ENST00000380437 5963 nts (view in UCSC)
- ENST00000434457 8143 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DENND4C - Starting at $85 >
- * DENND4C 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 DENND4C
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DENND4C
-
Santa Cruz Biotechnology (SCBT) CRISPR for DENND4C
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DENND4C
- Browse OriGene Inhibitory RNA Products For DENND4C
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DENND4C
Clone products for research
- Applied Biological Materials (abm): Clones for DENND4C - Starting at $45 >
- * DENND4C 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 DENND4C
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DENND4C
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17a | · | 17b | ^ | 18a | · | 18b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: |
| ExUns: | 18c | ^ | 19a | · | 19b | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||
| SP5: | |||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||
| SP9: |
Relevant External Links for DENND4C Gene
- GeneLoc Exon Structure for
- DENND4C
Expression for DENND4C Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Peripheral blood mononuclear cells (17.0) and CD8 Tcells (7.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DENND4C Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DENND4C
SOURCE GeneReport for Unigene cluster for DENND4C Gene:
Hs.249591Evidence on tissue expression from TISSUES for DENND4C Gene
- Liver(4.2)
- Lymph node(4.2)
- Nervous system(2.8)
Primer products for research
-
OriGene qPCR primer pairs for DENND4C
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DENND4C Gene
Orthologs for DENND4C Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DENND4C 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DENND4C 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DENND4C 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Dennd4c 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | RGD1308489 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | DENND4C 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | DENND4C 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DENND4C 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dennd4c 29 |
|
||
| Str.16012 29 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | dennd4c 29 30 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Crag 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | denn-4 30 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1014 30 |
|
OneToMany |
- Species where no ortholog for DENND4C 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)
- Baker's yeast (Saccharomyces cerevisiae)
- 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 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 DENND4C Gene
- ENSEMBL:
- Gene Tree for DENND4C (if available)
- TreeFam:
- Gene Tree for DENND4C (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DENND4C: view image
- Alliance of Genome Resources:
- Additional Orthologs for DENND4C
Paralogs for DENND4C Gene
Variants for DENND4C Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DENND4C Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs17818730 | -- |
p.Thr1266Ala |
|||
| rs34267952 | -- |
p.Val1227Gly |
|||
| rs6475322 | -- |
p.Asn1343His |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1060561 | CNV | insertion | 17803354 |
| esv1745994 | CNV | deletion | 17803354 |
| esv2302206 | CNV | deletion | 18987734 |
| esv24621 | CNV | loss | 19812545 |
| esv2665168 | CNV | deletion | 23128226 |
| esv2668263 | CNV | deletion | 23128226 |
| esv2677622 | CNV | deletion | 23128226 |
| esv2738259 | CNV | deletion | 23290073 |
| esv28580 | CNV | loss | 19812545 |
| esv3544632 | CNV | deletion | 23714750 |
| esv3544634 | CNV | deletion | 23714750 |
| esv3573165 | CNV | loss | 25503493 |
| esv3619900 | CNV | loss | 21293372 |
| esv3619901 | CNV | gain | 21293372 |
| esv3619902 | CNV | loss | 21293372 |
| esv3619903 | CNV | loss | 21293372 |
| esv3619904 | CNV | loss | 21293372 |
| esv3619905 | CNV | gain | 21293372 |
| esv3619906 | CNV | loss | 21293372 |
| esv3619907 | CNV | gain | 21293372 |
| esv3619908 | CNV | loss | 21293372 |
| esv3619909 | CNV | loss | 21293372 |
| nsv1024948 | CNV | loss | 25217958 |
| nsv1029922 | CNV | gain | 25217958 |
| nsv1030736 | CNV | gain | 25217958 |
| nsv1074852 | CNV | deletion | 25765185 |
| nsv466286 | CNV | gain | 19166990 |
| nsv613729 | CNV | gain | 21841781 |
| nsv613730 | CNV | gain | 21841781 |
| nsv824872 | CNV | loss | 20364138 |
Residual Variation Intolerance Score:
11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.86;
83.63% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DENND4C Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DENND4C Gene
Disorders for DENND4C Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alkuraya-kucinskas syndrome |
|
|
| koolen-de vries syndrome |
|
|
Search DENND4C in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DENND4C
- 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 DENND4C Gene
Publications for DENND4C Gene
- Insulin-stimulated GLUT4 protein translocation in adipocytes requires the Rab10 guanine nucleotide exchange factor Dennd4C. (PMID: 21454697) Sano H … Lienhard GE (The Journal of biological chemistry 2011) 2 3
- Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. (PMID: 20937701) Yoshimura S … Barr FA (The Journal of cell biology 2010) 3 4
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
- DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
ExternalLinks
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Sources for DENND4C Gene
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