collectin subfamily member 11

Summary
Gene Symbol
  • COLEC11
Aliases
  • CL-11
  • CL-K1
  • Collectin K1
  • MGC3279
Organism
Homo sapiens (human)
External Links
NCBI Gene
78989
HGNC
17213
KEGG Gene ID
hsa:78989
PubChem
78989
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Calcium
  • Coiled coil
  • Collagen
  • Developmental protein
  • Disease variant
  • Disulfide bond
  • Innate immunity
  • Mannose-binding
  • Metal-binding
  • Reference proteome
  • Secreted
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
Q9BWP8
  • Collectin kidney protein 1
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K10066
Name
collectin sub-family member 11
References
Disease
Disease Ontology
Displaying entries 51 - 52 of 52 in total
DO ID Disease Name Source
DOID:9827 radioulnar synostosis
DOID:9837 hypertropia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 53 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000085 Horseshoe kidney
HP:0000175 Cleft palate
HP:0000202 Orofacial cleft
HP:0000204 Cleft upper lip
HP:0000218 High palate
HP:0000289 Broad philtrum
HP:0000316 Hypertelorism
Displaying all 2 entries
Disease ID Disease Name
ORPHA:293843
  • 3MC syndrome
OMIM:265050
  • 3MC syndrome 2
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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Last updated: August 19, 2024