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 11 - 20 of 52 in total
DO ID Disease Name Source
DOID:0060575 3MC syndrome 1
DOID:0060576 3MC syndrome 2
DOID:0060577 3MC syndrome 3
DOID:0080073 spina bifida occulta
DOID:0110213 isolated cleft palate
DOID:10003 sensorineural hearing loss
DOID:10113 trypanosomiasis
DOID:10348 blepharophimosis
DOID:104 bacterial infectious disease
DOID:10426 Klippel-Feil syndrome
The Human Phenotype Ontology
Displaying entries 11 - 20 of 53 in total
HPO ID HPO Term
HP:0000337 Broad forehead
HP:0000365 Hearing impairment
HP:0000369 Low-set ears
HP:0000377 Abnormal pinna morphology
HP:0000426 Prominent nasal bridge
HP:0000431 Wide nasal bridge
HP:0000437 Depressed nasal tip
HP:0000473 Torticollis
HP:0000486 Strabismus
HP:0000494 Downslanted palpebral fissures
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