Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by R... See more...

Aliases for CLTC Gene

Aliases for CLTC Gene

  • Clathrin Heavy Chain 2 3 5
  • Clathrin Heavy Chain On Chromosome 17 3 4
  • Clathrin, Heavy Polypeptide-Like 2 2 3
  • Clathrin, Heavy Polypeptide (Hc) 2 3
  • Clathrin Heavy Chain 1 3 4
  • CLH-17 3 4
  • CLTCL2 3 4
  • Hc 2 3
  • Clathrin, Heavy Chain (Hc) 2
  • Clathrin, Heavy Chain 2
  • KIAA0034 4
  • CHC17 3
  • MRD56 3
  • CLH17 4
  • CLTC 5
  • CHC 3

External Ids for CLTC Gene

Previous HGNC Symbols for CLTC Gene

  • CLTCL2

Previous GeneCards Identifiers for CLTC Gene

  • GC17P057433
  • GC17P060146
  • GC17P058039
  • GC17P058171
  • GC17P055052
  • GC17P057697
  • GC17P053069

Summaries for CLTC Gene

Entrez Gene Summary for CLTC Gene

  • Clathrin is a major protein component of the cytoplasmic face of intracellular organelles, called coated vesicles and coated pits. These specialized organelles are involved in the intracellular trafficking of receptors and endocytosis of a variety of macromolecules. The basic subunit of the clathrin coat is composed of three heavy chains and three light chains. [provided by RefSeq, Jul 2008]

GeneCards Summary for CLTC Gene

CLTC (Clathrin Heavy Chain) is a Protein Coding gene. Diseases associated with CLTC include Mental Retardation, Autosomal Dominant 56 and Noonan Syndrome 3. Among its related pathways are Endocytic Trafficking of EGFR and Lysosome. Gene Ontology (GO) annotations related to this gene include protein kinase binding. An important paralog of this gene is CLTCL1.

UniProtKB/Swiss-Prot Summary for CLTC Gene

  • Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872).

Gene Wiki entry for CLTC Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CLTC Gene

Genomics for CLTC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CLTC 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 CLTC on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CLTC

Top Transcription factor binding sites by QIAGEN in the CLTC gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • MyoD
  • STAT1

Genomic Locations for CLTC Gene

Latest Assembly
chr17:59,619,689-59,696,956
(GRCh38/hg38)
Size:
77,268 bases
Orientation:
Plus strand

Previous Assembly
chr17:57,697,256-57,774,317
(GRCh37/hg19 by Entrez Gene)
Size:
77,062 bases
Orientation:
Plus strand

chr17:57,697,219-57,773,671
(GRCh37/hg19 by Ensembl)
Size:
76,453 bases
Orientation:
Plus strand

Genomic View for CLTC Gene

Genes around CLTC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CLTC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CLTC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CLTC Gene

Proteins for CLTC Gene

  • Protein details for CLTC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00610-CLH1_HUMAN
    Recommended name:
    Clathrin heavy chain 1
    Protein Accession:
    Q00610
    Secondary Accessions:
    • D3DU00
    • Q6N0A0
    • Q86TF2

    Protein attributes for CLTC Gene

    Size:
    1675 amino acids
    Molecular mass:
    191615 Da
    Quaternary structure:
    • Clathrin triskelions, composed of 3 heavy chains and 3 light chains, are the basic subunits of the clathrin coat (PubMed:16968737). In the presence of light chains, hub assembly is influenced by both the pH and the concentration of calcium. Interacts with HIP1 (PubMed:11532990). Interacts with DENND1A, DENND1B and DENND1C (By similarity). May interact with OCRL (By similarity). Interacts with ERBB2 (PubMed:16314522). Interacts with FKBP6 (PubMed:18529014). Interacts with CKAP5 and TACC3 forming the TACC3/ch-TOG/clathrin complex located at spindle inter-microtubules bridges; the complex implicates clathrin triskelions; TACC3 and CLTC are proposed to form a composite microtubule interaction surface (PubMed:21297582). Interacts with ATG16L1 (via N-terminus) (PubMed:20639872). Interacts with RFTN1; the interaction occurs in response to pathogens (PubMed:27022195, PubMed:21266579). Interacts with USP2 isoform 4 (PubMed:26756164).
    SequenceCaution:
    • Sequence=BAA04801.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CLTC Gene

    Alternative splice isoforms for CLTC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CLTC Gene

Post-translational modifications for CLTC Gene

  • Ubiquitination at Lys163, Lys367, Lys389, Lys619, Lys798, Lys856, Lys881, Lys941, Lys1074, Lys1179, Lys1215, Lys1443, and Lys1501
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CLTC Gene

Domains & Families for CLTC Gene

Gene Families for CLTC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CLTC Gene

GenScript: Design optimal peptide antigens:
  • Clathrin heavy chain on chromosome 17 (CLH1_HUMAN)
  • CLTC protein (Q49AL0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00610

UniProtKB/Swiss-Prot:

CLH1_HUMAN :
  • The N-terminal seven-bladed beta-propeller is formed by WD40-like repeats, and projects inward from the polyhedral outer clathrin coat. It constitutes a major protein-protein interaction node.
  • Belongs to the clathrin heavy chain family.
Domain:
  • The N-terminal seven-bladed beta-propeller is formed by WD40-like repeats, and projects inward from the polyhedral outer clathrin coat. It constitutes a major protein-protein interaction node.
Family:
  • Belongs to the clathrin heavy chain family.
genes like me logo Genes that share domains with CLTC: view

Function for CLTC Gene

Molecular function for CLTC Gene

UniProtKB/Swiss-Prot Function:
Clathrin is the major protein of the polyhedral coat of coated pits and vesicles. Two different adapter protein complexes link the clathrin lattice either to the plasma membrane or to the trans-Golgi network. Acts as component of the TACC3/ch-TOG/clathrin complex proposed to contribute to stabilization of kinetochore fibers of the mitotic spindle by acting as inter-microtubule bridge (PubMed:15858577, PubMed:16968737, PubMed:21297582). The TACC3/ch-TOG/clathrin complex is required for the maintenance of kinetochore fiber tension (PubMed:23532825). Plays a role in early autophagosome formation (PubMed:20639872).
GENATLAS Biochemistry:
clathrin,heavy chain 1,ubiquitously expressed,component of coated vesicles and coated pits,translocated to plasma membrane through AP2 binding,also expressed in synaptic vesicles

Phenotypes From GWAS Catalog for CLTC Gene

Gene Ontology (GO) - Molecular Function for CLTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003725 double-stranded RNA binding IDA 21266579
GO:0005198 structural molecule activity IEA,NAS 1765375
GO:0005515 protein binding IEA,IPI 12429846
GO:0019901 protein kinase binding ISS --
genes like me logo Genes that share ontologies with CLTC: view
genes like me logo Genes that share phenotypes with CLTC: view

Human Phenotype Ontology for CLTC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLTC

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CLTC Gene

Localization for CLTC Gene

Subcellular locations from UniProtKB/Swiss-Prot for CLTC Gene

Cytoplasmic vesicle membrane. Peripheral membrane protein. Cytoplasmic side. Membrane, coated pit. Peripheral membrane protein. Cytoplasmic side. Melanosome. Cytoplasm, cytoskeleton, spindle. Note=Cytoplasmic face of coated pits and vesicles. Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In complex with TACC3 and CKAP5 (forming the TACC3/ch-TOG/clathrin complex) localized to inter-microtubule bridges in mitotic spindles. {ECO:0000269 PubMed:25596274}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CLTC gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
endosome 5
cytosol 5
extracellular 4
lysosome 4
golgi apparatus 4
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endosomes (4)
  • Lysosomes (4)
  • Vesicles (4)
  • Mitotic spindle (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CLTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IDA --
GO:0005768 endosome IDA --
GO:0005819 spindle IBA,IDA 15858577
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CLTC: view

Pathways & Interactions for CLTC Gene

genes like me logo Genes that share pathways with CLTC: view

Pathways by source for CLTC Gene

5 GeneGo (Thomson Reuters) pathways for CLTC Gene
  • Cholesterol and Sphingolipids transport / Influx to the early endosome in lung (normal and CF)
  • Development Angiotensin signaling via beta-Arrestin
  • Transport Clathrin-coated vesicle cycle
  • wtCFTR and delta508 traffic / Clathrin coated vesicles formation (norm and CF)
  • wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF)
1 R&D Systems pathway for CLTC Gene
3 Qiagen pathways for CLTC Gene
  • CTLA4 Signaling
  • Endocytic Trafficking of EGFR
  • Remodeling of Adherens Junctions
1 Cell Signaling Technology pathway for CLTC Gene

SIGNOR curated interactions for CLTC Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CLTC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 15858577
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006886 intracellular protein transport IEA,NAS 1765375
GO:0006898 receptor-mediated endocytosis IMP 15858577
GO:0006914 autophagy IEA --
genes like me logo Genes that share ontologies with CLTC: view

Drugs & Compounds for CLTC Gene

(1) Drugs for CLTC Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with CLTC: view

Transcripts for CLTC Gene

mRNA/cDNA for CLTC Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CLTC

Alternative Splicing Database (ASD) splice patterns (SP) for CLTC Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4:
SP5:
SP6:
SP7: - -
SP8:
SP9:
SP10:
SP11:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b ^ 34a · 34b · 34c ^ 35a · 35b · 35c
SP1: - - - -
SP2: - - - -
SP3: - - -
SP4:
SP5: - - -
SP6: - - - - -
SP7:
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for CLTC Gene

GeneLoc Exon Structure for
CLTC

Expression for CLTC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CLTC Gene

Protein differential expression in normal tissues from HIPED for CLTC Gene

This gene is overexpressed in Frontal cortex (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CLTC Gene



Protein tissue co-expression partners for CLTC Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CLTC

SOURCE GeneReport for Unigene cluster for CLTC Gene:

Hs.491351

Evidence on tissue expression from TISSUES for CLTC Gene

  • Heart(5)
  • Liver(5)
  • Nervous system(5)
  • Blood(4.9)
  • Intestine(4.8)
  • Eye(4.5)
  • Bone marrow(4.5)
  • Kidney(4.3)
  • Skin(4.2)
  • Adrenal gland(4.1)
  • Lung(4.1)
  • Pancreas(4)
  • Muscle(3.6)
  • Gall bladder(3.3)
  • Spleen(2.7)
  • Lymph node(2.6)
  • Stomach(2.5)
  • Thyroid gland(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CLTC Gene

Germ Layers:
  • mesoderm
Systems:
  • urinary
Regions:
Abdomen:
  • kidney
genes like me logo Genes that share expression patterns with CLTC: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CLTC Gene

Orthologs for CLTC Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CLTC Gene

Organism Taxonomy Gene Similarity Type Details
Oppossum
(Monodelphis domestica)
Mammalia CLTC 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia CLTC 29 30
  • 99.78 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 99 (a)
OneToMany
-- 30
  • 96 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia CLTC 29 30
  • 95.28 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CLTC 29 30
  • 94.03 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cltc 29 16 30
  • 92.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cltc 29
  • 91.22 (n)
Chicken
(Gallus gallus)
Aves CLTC 29 30
  • 84.02 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CLTC 30
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cltc 29
  • 81.99 (n)
Str.11060 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.23823 29
Zebrafish
(Danio rerio)
Actinopterygii cltca 30
  • 95 (a)
OneToMany
cltcb 29 30
  • 78.97 (n)
OneToMany
CLTC (2 of 3) 30
  • 78 (a)
OneToMany
wufc49a11 29
Fruit Fly
(Drosophila melanogaster)
Insecta Chc 29 30 31
  • 67.91 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003021 29
  • 67.13 (n)
Worm
(Caenorhabditis elegans)
Secernentea T20G5.1 31
  • 71 (a)
chc-1 29 30
  • 64.92 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHC1 29 30 32
  • 55.51 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09911g 29
  • 54.62 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER359W 29
  • 53.86 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G08530 29
  • 58.85 (n)
Soybean
(Glycine max)
eudicotyledons Gma.5822 29
Barley
(Hordeum vulgare)
Liliopsida Hv.1410 29
Wheat
(Triticum aestivum)
Liliopsida Ta.5000 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1583 30
  • 66 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU02510 29
  • 57.97 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes chc1 29
  • 57.62 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4438 29
Species where no ortholog for CLTC was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • 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 Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for CLTC Gene

ENSEMBL:
Gene Tree for CLTC (if available)
TreeFam:
Gene Tree for CLTC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CLTC: view image
Alliance of Genome Resources:
Additional Orthologs for CLTC

Paralogs for CLTC Gene

Paralogs for CLTC Gene

(1) SIMAP similar genes for CLTC Gene using alignment to 8 proteins:

  • CLH1_HUMAN
  • J3KRF5_HUMAN
  • J3KS13_HUMAN
  • J3KSQ2_HUMAN
  • J3KTN1_HUMAN
  • J3QL20_HUMAN
  • K7EJJ5_HUMAN
  • Q49AL0_HUMAN
genes like me logo Genes that share paralogs with CLTC: view

Variants for CLTC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CLTC Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1029301 Uncertain Significance: Intellectual disability, autosomal dominant 56 59,661,455(+) A/G
NM_004859.4(CLTC):c.1180A>G (p.Thr394Ala)
MISSENSE
1029302 Pathogenic: Intellectual disability, autosomal dominant 56 59,685,223(+) C/G
NM_004859.4(CLTC):c.4602C>G (p.Tyr1534Ter)
NONSENSE
838055 Uncertain Significance: not provided 59,673,777(+) G/A
NM_004859.4(CLTC):c.2418+5G>A
INTRON
871466 Pathogenic: not provided 59,663,894(+) TG/T
NM_004859.4(CLTC):c.1423del (p.Ala475fs)
FRAMESHIFT
932132 Uncertain Significance: Intellectual disability, autosomal dominant 56 59,664,857(+) A/T
NM_004859.4(CLTC):c.1592A>T (p.Gln531Leu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CLTC Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CLTC Gene

Variant ID Type Subtype PubMed ID
dgv3272n100 CNV gain 25217958
esv2672443 CNV deletion 23128226
esv3640907 CNV loss 21293372
esv3640908 CNV loss 21293372
esv3640909 CNV loss 21293372
nsv1067453 CNV gain 25217958
nsv575805 CNV gain 21841781
nsv833501 CNV loss 17160897

Variation tolerance for CLTC Gene

Residual Variation Intolerance Score: 1.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.95; 19.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CLTC Gene

Human Gene Mutation Database (HGMD)
CLTC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CLTC
Leiden Open Variation Database (LOVD)
CLTC

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CLTC Gene

Disorders for CLTC Gene

MalaCards: The human disease database

(16) MalaCards diseases for CLTC Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CLTC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CLH1_HUMAN
  • Mental retardation, autosomal dominant 56 (MRD56) [MIM:617854]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:26822784, ECO:0000269 PubMed:29100083}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CLTC

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CLTC: view

No data available for Genatlas for CLTC Gene

Publications for CLTC Gene

  1. Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. (PMID: 7584026) Nomura N … Tabata S (DNA research : an international journal for rapid publication of reports on genes and genomes 1994) 2 3 4
  2. Human clathrin heavy chain (CLTC): partial molecular cloning, expression, and mapping of the gene to human chromosome 17q11-qter. (PMID: 1765375) Dodge GR … Iozzo RV (Genomics 1991) 2 3 4
  3. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. (PMID: 29100083) Hamdan FF … Michaud JL (American journal of human genetics 2017) 4 72
  4. USP2-45 Is a Circadian Clock Output Effector Regulating Calcium Absorption at the Post-Translational Level. (PMID: 26756164) Pouly D … Staub O (PloS one 2016) 3 4
  5. A TACC3/ch-TOG/clathrin complex stabilises kinetochore fibres by inter-microtubule bridging. (PMID: 21297582) Booth DG … Royle SJ (The EMBO journal 2011) 3 4

Products for CLTC Gene

Sources for CLTC Gene