collectin subfamily member 10

Summary
Gene Symbol
  • COLEC10
Aliases
  • CL-10
  • CL-L1
Organism
Homo sapiens (human)
NCBI Gene
10584
HGNC
2220
KEGG Gene ID
hsa:10584
PubChem
10584
Alliance of Genome Resources
Annotation
Keyword
  • Calcium
  • Collagen
  • Cytoplasm
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Golgi apparatus
  • Mannose-binding
  • Reference proteome
  • Secreted
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
Q9Y6Z7
  • Collectin liver protein 1
  • Collectin-34
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
C-type lectin domain family 4 member E
Functional Category
  • E: Amino acid transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • Q: Secondary metabolites biosynthesis, transport and catabolism
KEGG BRITE Database
Orthology
K10065
Name
collectin sub-family member 10
References
Disease
Disease Ontology
Displaying 1 entry
DO ID Disease Name Source
DOID:0060577 3MC syndrome 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 45 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000048 Bifid scrotum
HP:0000054 Micropenis
HP:0000085 Horseshoe kidney
HP:0000175 Cleft palate
HP:0000202 Orofacial cleft
HP:0000204 Cleft upper lip
HP:0000316 Hypertelorism
HP:0000365 Hearing impairment
Displaying all 2 entries
Disease ID Disease Name
ORPHA:293843
  • 3MC syndrome
OMIM:248340
  • 3MC syndrome 3
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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