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This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010] See more...
Aliases for TMTC3 Gene
Aliases for TMTC3 Gene
External Ids for TMTC3 Gene
- HGNC: 26899
- Entrez Gene: 160418
- Ensembl: ENSG00000139324
- OMIM: 617218
- UniProtKB: Q6ZXV5
Previous GeneCards Identifiers for TMTC3 Gene
- GC12P087042
- GC12P088536
- GC12P085603
Summaries for TMTC3 Gene
-
This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]
GeneCards Summary for TMTC3 Gene
TMTC3 (Transmembrane O-Mannosyltransferase Targeting Cadherins 3) is a Protein Coding gene. Diseases associated with TMTC3 include Lissencephaly 8 and Periventricular Nodular Heterotopia. An important paralog of this gene is TMTC4.
UniProtKB/Swiss-Prot Summary for TMTC3 Gene
-
Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 (PubMed:28973932). Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response.
Additional gene information for TMTC3 Gene
- HGNC(26899)
- Entrez Gene(160418)
- Ensembl(ENSG00000139324)
- OMIM(617218)
- UniProtKB(Q6ZXV5)
- Open Targets Platform(ENSG00000139324)
- Monarch Initiative
- Search for TMTC3 at DataMed
- Search for TMTC3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMTC3 Gene
Genomics for TMTC3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for TMTC3 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 TMTC3 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TMTC3
- Top Transcription factor binding sites by QIAGEN in the TMTC3 gene promoter:
-
- ATF-2
- Bach1
- CUTL1
- GATA-1
- HFH-1
- Ik-3
- Pbx1a
- POU2F1
- POU2F1a
- POU3F1
Genomic Locations for TMTC3 Gene
Genomic Locations for TMTC3 Gene
- chr12:88,142,296-88,199,887
- (GRCh38/hg38)
- Size:
- 57,592 bases
- Orientation:
- Plus strand
- chr12:88,536,073-88,593,664
- (GRCh37/hg19)
- Size:
- 57,592 bases
- Orientation:
- Plus strand
Genomic View for TMTC3 Gene
Genes around TMTC3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q21.32 by HGNC
- 12q21.32 by Entrez Gene
- 12q21.32 by Ensembl
TMTC3 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 TMTC3 Gene
Proteins for TMTC3 Gene
-
Protein details for TMTC3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6ZXV5-TMTC3_HUMAN
- Recommended name:
- Protein O-mannosyl-transferase TMTC3
- Protein Accession:
- Q6ZXV5
- Q5CZ86
- Q5H9T6
- Q68DQ6
- Q68DX0
- Q7Z332
- Q8NC50
Protein attributes for TMTC3 Gene
- Size:
- 915 amino acids
- Molecular mass:
- 104009 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAC11325.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
Protein Expression for TMTC3 Gene
Post-translational modifications for TMTC3 Gene
Other Protein References for TMTC3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for TMTC3
- Novus Biologicals Antibodies for TMTC3
-
Abcam antibodies for TMTC3
- Invitrogen Antibodies for TMTC3 (AFLGC-TMTC3)
- antibodies-online: Show 6 available TMTC3 Antibodies ranked by validation data
- Compare Top TMTC3 Antibodies
-
Quality Products:
-
Santa Cruz Biotechnology (SCBT) Antibodies for TMTC3
Protein Products
-
OriGene Purified Proteins for TMTC3
- Search Origene for MassSpec and Protein Over-expression Lysates for TMTC3
- Origene Custom Protein Services for TMTC3
Assay Products
-
Signalway ELISA kits for TMTC3
No data available for DME Specific Peptides for TMTC3 Gene
Domains & Families for TMTC3 Gene
Gene Families for TMTC3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for TMTC3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TMTC3 Gene
- GenScript: Design optimal peptide antigens:
-
- Protein SMILE (TMTC3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6ZXV5- Family:
-
- Belongs to the TMTC family.
Function for TMTC3 Gene
Molecular function for TMTC3 Gene
- UniProtKB/Swiss-Prot Function:
- Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 (PubMed:28973932). Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + dolichyl phosphate + H(+); Xref=Rhea:RHEA:17377, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:13546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:137321; EC=2.4.1.109; Evidence={ECO:0000269|PubMed:28973932};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=dolichyl beta-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + dolichyl phosphate + H(+); Xref=Rhea:RHEA:53396, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9527, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:13547, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:57683, ChEBI:CHEBI:58211, ChEBI:CHEBI:137323; EC=2.4.1.109; Evidence={ECO:0000269|PubMed:28973932};.
Enzyme Numbers (IUBMB) for TMTC3 Gene
Phenotypes From GWAS Catalog for TMTC3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000030 | mannosyltransferase activity | IMP | 28973932 |
| GO:0004169 | dolichyl-phosphate-mannose-protein mannosyltransferase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for TMTC3 Gene
- MGI mutant phenotypes for TMTC3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for TMTC3:
Animal Models for TMTC3 Gene
- MGI Knock Outs for TMTC3:
-
- Tmtc3 Tmtc3<tm1b(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMTC3 - Select products 50% OFF >
- * TMTC3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TMTC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMTC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMTC3
miRNA for TMTC3 Gene
- miRTarBase miRNAs that target TMTC3
-
- hsa-miR-29c-3p (MIRT020400)
- hsa-miR-155-5p (MIRT020906)
- hsa-miR-128-3p (MIRT022084)
- hsa-miR-215-5p (MIRT024869)
- hsa-miR-192-5p (MIRT026736)
- hsa-miR-101-3p (MIRT027336)
- hsa-miR-27a-3p (MIRT028696)
- hsa-miR-16-5p (MIRT031901)
- hsa-let-7d-5p (MIRT032149)
- hsa-let-7b-5p (MIRT032434)
- hsa-miR-29a-3p (MIRT067384)
- hsa-miR-29b-3p (MIRT067385)
- hsa-miR-144-3p (MIRT067387)
- hsa-miR-190a-3p (MIRT067388)
- hsa-miR-767-5p (MIRT067389)
- hsa-miR-297 (MIRT067391)
- hsa-miR-3663-3p (MIRT067393)
- hsa-miR-6512-5p (MIRT067394)
- hsa-let-7a-5p (MIRT067397)
- hsa-let-7c-5p (MIRT067398)
- hsa-let-7e-5p (MIRT067399)
- hsa-let-7f-5p (MIRT067400)
- hsa-miR-98-5p (MIRT067401)
- hsa-miR-224-5p (MIRT067402)
- hsa-let-7g-5p (MIRT067403)
- hsa-let-7i-5p (MIRT067404)
- hsa-miR-27b-3p (MIRT067405)
- hsa-miR-202-3p (MIRT067406)
- hsa-miR-498 (MIRT067407)
- hsa-miR-1250-3p (MIRT067410)
- hsa-miR-4458 (MIRT067414)
- hsa-miR-4500 (MIRT067415)
- hsa-miR-4678 (MIRT067416)
- hsa-miR-142-3p (MIRT136323)
- hsa-miR-1305 (MIRT136330)
- hsa-miR-548c-3p (MIRT188824)
- hsa-miR-1284 (MIRT188827)
- hsa-miR-516b-5p (MIRT465724)
- hsa-miR-519e-5p (MIRT465725)
- hsa-miR-515-5p (MIRT465726)
- hsa-miR-4465 (MIRT465727)
- hsa-miR-26b-5p (MIRT465728)
- hsa-miR-1297 (MIRT465729)
- hsa-miR-26a-5p (MIRT465730)
- hsa-miR-630 (MIRT465731)
- hsa-miR-136-5p (MIRT465732)
- hsa-miR-3681-3p (MIRT465733)
- hsa-miR-216a-3p (MIRT465734)
- hsa-miR-1298-3p (MIRT465735)
- hsa-miR-3126-3p (MIRT465736)
- hsa-miR-6867-5p (MIRT546262)
- hsa-miR-223-5p (MIRT546263)
- hsa-miR-567 (MIRT546264)
- hsa-miR-7852-3p (MIRT546265)
- hsa-miR-3668 (MIRT546266)
- hsa-miR-556-5p (MIRT546267)
- hsa-miR-5011-5p (MIRT546268)
- mmu-miR-743a-3p (MIRT595192)
- mmu-miR-743b-3p (MIRT595193)
- mmu-miR-1186b (MIRT595194)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMTC3
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Clone Products
- Applied Biological Materials (abm): Clones for TMTC3 - Select products 50% OFF >
- * TMTC3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TMTC3
- Addgene plasmids for TMTC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMTC3
Cell Line Products
-
Horizon Cell Lines for TMTC3
No data available for Transcription Factor Targets and HOMER Transcription for TMTC3 Gene
Localization for TMTC3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TMTC3 Gene
- Membrane. Multi-pass membrane protein. Endoplasmic reticulum. Note=In odontoblast cultures, it colocalizes with PDIA3 in the endoplasmic reticulum. {ECO:0000269 PubMed:21603654}.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| cytoskeleton | 2 |
| extracellular | 1 |
| peroxisome | 1 |
| plasma membrane | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005783 | endoplasmic reticulum | IEA,IDA | 21603654 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMTC3 Gene
Pathways & Interactions for TMTC3 Gene
UniProtKB/Swiss-Prot Q6ZXV5-TMTC3_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for TMTC3 Gene
Selected Interacting proteins:
Q6ZXV5-TMTC3_HUMAN
ENSP00000266712
for TMTC3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TMTC3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0034976 | response to endoplasmic reticulum stress | IMP | 21603654 |
| GO:0035269 | protein O-linked mannosylation | IMP | 28973932 |
| GO:1901800 | positive regulation of proteasomal protein catabolic process | IMP | 21603654 |
No data available for Pathways by source and SIGNOR curated interactions for TMTC3 Gene
Transcripts for TMTC3 Gene
mRNA/cDNA for TMTC3 Gene
- 5 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000266712 7192 nts (view in UCSC)
- ENST00000547034 1842 nts (view in UCSC)
- ENST00000549011 574 nts (view in UCSC)
- ENST00000551088 646 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for TMTC3 - Select products 50% OFF >
- * TMTC3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for TMTC3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMTC3
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMTC3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMTC3
- Browse OriGene Inhibitory RNA Products For TMTC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMTC3
Clone Products
- Applied Biological Materials (abm): Clones for TMTC3 - Select products 50% OFF >
- * TMTC3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for TMTC3
- Addgene plasmids for TMTC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMTC3
Relevant External Links for TMTC3 Gene
- GeneLoc Exon Structure for
- TMTC3
Expression for TMTC3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Trophoblast (Extraembryonic Tissues)
- Mural Trophectoderm Cells Mural Trophectoderm
This gene is overexpressed in Nasal epithelium (26.5), Breast (17.2), and Cervix (8.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMTC3 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TMTC3
SOURCE GeneReport for Unigene cluster for TMTC3 Gene:
Hs.331268Evidence on tissue expression from TISSUES for TMTC3 Gene
- Nervous system(4.4)
- Intestine(4.2)
Primer Products
-
OriGene qPCR primer pairs for TMTC3
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TMTC3 Gene
Orthologs for TMTC3 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | TMTC3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | TMTC3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | TMTC3 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Tmtc3 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | TMTC3 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Tmtc3 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | TMTC3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | TMTC3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | TMTC3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.10499 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | tmtc3 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010599 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4050 30 31 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for TMTC3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for TMTC3 Gene
- ENSEMBL:
- Gene Tree for TMTC3 (if available)
- TreeFam:
- Gene Tree for TMTC3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TMTC3: view image
Paralogs for TMTC3 Gene
Paralogs for TMTC3 Gene
(3) SIMAP similar genes for TMTC3 Gene using alignment to 5 proteins:
- TMTC3_HUMAN
- F8VR71_HUMAN
- F8VRY4_HUMAN
- F8W044_HUMAN
- L8ECP4_HUMAN
Variants for TMTC3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TMTC3 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 715521 | Likely Benign: not provided | 88,195,406(+) | A/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 715771 | Benign: not provided | 88,154,356(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 717658 | Likely Benign: not provided | 88,166,357(+) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 723618 | Benign: not provided | 88,153,436(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
| 749311 | Likely Benign: not provided | 88,153,425(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT |
Residual Variation Intolerance Score:
11.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.91;
74.35% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TMTC3 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMTC3 Gene
Disorders for TMTC3 Gene
(6) MalaCards diseases for TMTC3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lissencephaly 8 |
|
|
| periventricular nodular heterotopia |
|
|
| lissencephaly |
|
|
| cobblestone lissencephaly |
|
|
| hydranencephaly |
|
|
Search TMTC3 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TMTC3_HUMAN- Lissencephaly 8 (LIS8) [MIM:617255]: A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS8 patients manifest delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, hypotonia, cortical gyral abnormalities, and hypoplasia of the corpus callosum, brainstem and cerebellum. LIS8 inheritance is autosomal recessive. {ECO:0000269 PubMed:27773428}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TMTC3
No data available for Genatlas for TMTC3 Gene
Publications for TMTC3 Gene
- Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins. (PMID: 28973932) Larsen ISB … Halim A (Proceedings of the National Academy of Sciences of the United States of America 2017) 3 4
- The involvement of SMILE/TMTC3 in endoplasmic reticulum stress response. (PMID: 21603654) Racapé M … Brouard S (PloS one 2011) 3 4
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
- LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling. (PMID: 31073040) Choi JH … Beutler B (Science (New York, N.Y.) 2019) 3
ExternalLinks
Products for TMTC3 Gene
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- Custom Assay Services
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- Search Origene for MassSpec and Protein Over-expression Lysates for TMTC3
- Origene Custom Protein Services for TMTC3
- Origene shrna, sirna, and RNAi products in human, mouse, rat for TMTC3
- Browse OriGene Inhibitory RNA Products For TMTC3
- OriGene qPCR primer pairs for TMTC3
- OriGene CRISPR knockouts for TMTC3
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For TMTC3
- Sino Biological Human cDNA Clone for TMTC3
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- Novus Biologicals proteins and lysates for TMTC3
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- Invitrogen Antibodies for TMTC3 (AFLGC-TMTC3)
- VectorBuilder Custom and pre-made DNA vectors for TMTC3 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for TMTC3 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for TMTC3 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for TMTC3 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for TMTC3
- Addgene plasmids for TMTC3
- antibodies-online: Show 6 available TMTC3 Antibodies ranked by validation data
- Compare Top TMTC3 Antibodies
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- antibodies-online: Search results for available TMTC3 related products ranked by validation data
- antibodies-online: Search results for available TMTC3 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for TMTC3
- Search Santa Cruz Biotechnology (SCBT) for TMTC3 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TMTC3
- Horizon Cell Lines for TMTC3
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMTC3
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMTC3
- Search GeneCopoeia for miRNA 3'UTR Target clone products for TMTC3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMTC3
- Signalway ELISA kits for TMTC3
Sources for TMTC3 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (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) Genetics Home Reference
- (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) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB