FRAS1 related extracellular matrix 1

Summary
Gene Symbol
  • FREM1
Aliases
  • C9orf143
  • C9orf145
  • DKFZp686M16108
  • FLJ25461
  • TILRR
Organism
Homo sapiens (human)
NCBI Gene
158326
HGNC
23399
KEGG Gene ID
hsa:158326
PubChem
158326
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Basement membrane
  • Calcium
  • Cell adhesion
  • Craniosynostosis
  • Developmental protein
  • Disease variant
  • Disulfide bond
  • Glycoprotein
  • Lectin
  • Metal-binding
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying 1 entry
UniProt Protein Name
Q5H8C1
  • Protein QBRICK
OrthoDB (Group)
Group level
Eukaryota
Group Name
extracellular matrix
Functional Category
  • G: Carbohydrate transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying all 2 entries
Gene Ontology
anatomical structure morphogenesis
cell communication
Displaying 1 entry
InterPro
CSPG repeat
KEGG BRITE Database
Orthology
K23380
Name
FRAS1-related extracelluar matrix protein 1/2
References
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0060732 chromosome 9p deletion syndrome
DOID:0090001 Fraser syndrome
DOID:3827 congenital diaphragmatic hernia
The Human Phenotype Ontology
Displaying entries 31 - 40 of 46 in total
HPO ID HPO Term
HP:0001126 Cryptophthalmos
HP:0001256 Intellectual disability, mild
HP:0001263 Global developmental delay
HP:0001539 Omphalocele
HP:0001545 Anteriorly placed anus
HP:0001566 Widely-spaced maxillary central incisors
HP:0002025 Anal stenosis
HP:0003577 Congenital onset
HP:0005280 Depressed nasal bridge
HP:0009553 Abnormality of the hairline
Displaying all 6 entries
Disease ID Disease Name
ORPHA:2717
  • oculotrichoanal syndrome
OMIM:248450
  • oculotrichoanal syndrome
OMIM:608980
  • BNAR syndrome
ORPHA:3366
  • isolated trigonocephaly
ORPHA:217266
  • BNAR syndrome
OMIM:614485
  • trigonocephaly 2
Ortholog
Displaying entries 71 - 74 of 74 in total
Species Gene ID OrthoDB Alliance of Genome Resources Orthologous MAtrix
117032389 RHIFE21276
118897379 BALMU13298
122205005 PANLE25283
129044267 9600_0:00253f

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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: December 9, 2024