Gene Gene information from NCBI Gene database.
Entrez ID 1213
Gene name Clathrin heavy chain
Gene symbol CLTC
Synonyms (NCBI Gene)
CHCCHC17CLH-17CLTCL2HcMRD56
Chromosome 17
Chromosome location 17q23.1
Summary 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 macr
SNPs SNP information provided by dbSNP.
26
SNP ID Visualize variation Clinical significance Consequence
rs750846632 G>A,T Likely-pathogenic Splice donor variant
rs781677731 G>A,C Likely-pathogenic Splice acceptor variant
rs797044884 GA>-,GAGA Pathogenic, likely-pathogenic Coding sequence variant, frameshift variant
rs1197039101 T>C,G Likely-pathogenic Stop gained, synonymous variant, coding sequence variant
rs1454289985 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
822
miRTarBase ID miRNA Experiments Reference
MIRT020878 hsa-miR-155-5p Proteomics 18668040
MIRT023919 hsa-miR-1-3p Proteomics 18668040
MIRT051640 hsa-let-7e-5p CLASH 23622248
MIRT051201 hsa-miR-16-5p CLASH 23622248
MIRT051201 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
74
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IBA
GO:0000278 Process Mitotic cell cycle IMP 15858577
GO:0001649 Process Osteoblast differentiation HDA 16210410
GO:0003723 Function RNA binding HDA 22681889
GO:0003725 Function Double-stranded RNA binding IDA 21266579
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
118955 2092 ENSG00000141367
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00610
Protein name Clathrin heavy chain 1 (Clathrin heavy chain on chromosome 17) (CLH-17)
Protein 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 a component of the TACC3/ch-
PDB 2XZG , 4G55 , 6E4L , 6QNN , 6QNP , 7BN1 , 7BN2 , 7ZX4 , 9C0Y , 9C0Z
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01394 Clathrin_propel 19 56 Clathrin propeller repeat Repeat
PF01394 Clathrin_propel 148 187 Clathrin propeller repeat Repeat
PF01394 Clathrin_propel 198 234 Clathrin propeller repeat Repeat
PF01394 Clathrin_propel 253 288 Clathrin propeller repeat Repeat
PF01394 Clathrin_propel 296 330 Clathrin propeller repeat Repeat
PF09268 Clathrin-link 331 354 Clathrin, heavy-chain linker Family
PF13838 Clathrin_H_link 356 421 Domain
PF00637 Clathrin 537 679 Region in Clathrin and VPS Family
PF00637 Clathrin 686 827 Region in Clathrin and VPS Family
PF00637 Clathrin 834 971 Region in Clathrin and VPS Family
PF00637 Clathrin 979 1123 Region in Clathrin and VPS Family
PF00637 Clathrin 1128 1268 Region in Clathrin and VPS Family
PF00637 Clathrin 1274 1419 Region in Clathrin and VPS Family
PF00637 Clathrin 1423 1565 Region in Clathrin and VPS Family
Sequence
MAQILPIRFQEHLQLQNLGINPANIGFSTLTMESDKFICIREKVGEQAQVVIIDMNDPSN
PIRRPISADSAIMNPASKVIALKAGKTLQIFNIEMKSKMKAHTMTDDVTFWKWISLNTVA
LVTDNAVYHWSMEGESQPVKMFDRHSSLAGCQIINYRTDAKQKWLLLTGISAQQNRVVGA
MQLYSVD
RKVSQPIEGHAASFAQFKMEGNAEESTLFCFAVRGQAGGKLHIIEVGTPPTGN
QPFPKKAVDVFFPPEAQNDFPVAMQISEKHDVVFLITKYGYIHLYDLETGTCIYMNRISG
ETIFVTAPHEATAGIIGVNRKGQVLSVCVE
EENIIPYITNVLQNPDLALRMAVRNNLAGA
EELFARKFNALFAQGNYSEAAKVAANAPKGILRTPDTIRRFQSVPAQPGQTSPLLQYFGI
L
LDQGQLNKYESLELCRPVLQQGRKQLLEKWLKEDKLECSEELGDLVKSVDPTLALSVYL
RANVPNKVIQCFAETGQVQKIVLYAKKVGYTPDWIFLLRNVMRISPDQGQQFAQMLVQDE
EPLADITQIVDVFMEYNLIQQCTAFLLDALKNNRPSEGPLQTRLLEMNLMHAPQVADAIL
GNQMFTHYDRAHIAQLCEKAGLLQRALEHFTDLYDIKRAVVHTHLLNPEWLVNYFGSLSV
EDSLECLRAMLSANIRQNL
QICVQVASKYHEQLSTQSLIELFESFKSFEGLFYFLGSIVN
FSQDPDVHFKYIQAACKTGQIKEVERICRESNCYDPERVKNFLKEAKLTDQLPLIIVCDR
FDFVHDLVLYLYRNNLQKYIEIYVQKVNPSRLPVVIGGLLDVDCSED
VIKNLILVVRGQF
STDELVAEVEKRNRLKLLLPWLEARIHEGCEEPATHNALAKIYIDSNNNPERFLRENPYY
DSRVVGKYCEKRDPHLACVAYERGQCDLELINVCNENSLFKSLSRYLVRRKDPELWGSVL
LESNPYRRPLI
DQVVQTALSETQDPEEVSVTVKAFMTADLPNELIELLEKIVLDNSVFSE
HRNLQNLLILTAIKADRTRVMEYINRLDNYDAPDIANIAISNELFEEAFAIFRKFDVNTS
AVQVLIEHIGNLDRAYEFAERCNEPAVWSQLAKAQLQKGMVKE
AIDSYIKADDPSSYMEV
VQAANTSGNWEELVKYLQMARKKARESYVETELIFALAKTNRLAELEEFINGPNNAHIQQ
VGDRCYDEKMYDAAKLLYNNVSNFGRLASTLVHLGEYQAAVDGARKANSTRTWKEVCFAC
VDGKEFRL
AQMCGLHIVVHADELEELINYYQDRGYFEELITMLEAALGLERAHMGMFTEL
AILYSKFKPQKMREHLELFWSRVNIPKVLRAAEQAHLWAELVFLYDKYEEYDNAIITMMN
HPTDAWKEGQFKDIITKVANVELYYRAIQFYLEFKPLLL
NDLLMVLSPRLDHTRAVNYFS
KVKQLPLVKPYLRSVQNHNNKSVNESLNNLFITEEDYQALRTSIDAYDNFDNISLAQRLE
KHELIEFRRIAAYLFKGNNRWKQSVELCKKDSLYKDAMQYASESKDTELAEELLQWFLQE
EKREC
FGACLFTCYDLLRPDVVLETAWRHNIMDFAMPYFIQVMKEYLTKVDKLDASESLR
KEEEQATETQPIVYGQPQLMLTAGPSVAVPPQAPFGYGYTAPPYGQPQPGFGYSM
Sequence length 1675
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Lysosome
Endocytosis
Synaptic vesicle cycle
Endocrine and other factor-regulated calcium reabsorption
Huntington disease
Bacterial invasion of epithelial cells
  Entry of Influenza Virion into Host Cell via Endocytosis
Retrograde neurotrophin signalling
Gap junction degradation
Formation of annular gap junctions
MHC class II antigen presentation
EPH-ephrin mediated repulsion of cells
Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Recycling pathway of L1
WNT5A-dependent internalization of FZD4
WNT5A-dependent internalization of FZD2, FZD5 and ROR2
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
VLDLR internalisation and degradation
LDL clearance
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal corpus callosum morphology Pathogenic rs2143602393 RCV001391273
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant non-syndromic intellectual disability Pathogenic rs2143580660 RCV001696756
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CLTC-related disorder Likely pathogenic rs2509361452 RCV003901604
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay Likely pathogenic rs2509165203 RCV002463861
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 29908364
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 31776469 Associate
★☆☆☆☆
Found in Text Mining only
Ameloblastoma Ameloblastoma Pubtator 33395399 Associate
★☆☆☆☆
Found in Text Mining only
Androgen-Insensitivity Syndrome Androgen-Insensitivity Syndrome BEFREE 27447624
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30377863
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35273614 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism HPO_DG
★☆☆☆☆
Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability Non-Syndromic Intellectual Disability Orphanet
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
B-Cell Lymphomas B-Cell Lymphoma BEFREE 12750159
★☆☆☆☆
Found in Text Mining only