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FRAS1 related extracellular matrix 1

Summary
Gene Symbol
  • FREM1
Aliases
  • C9orf143
  • C9orf145
  • DKFZp686M16108
  • FLJ25461
  • TILRR
Organism
Homo sapiens (human)
External Links
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
Annotation information from UniProt.
Gene Ontology (GO)
Gene Ontology information from NCBI Gene and UniProt.
KEGG BRITE Database
Orthology
K23380
Name
FRAS1-related extracelluar matrix protein 1/2
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 55 in total
DO ID Disease Name Source
DOID:0060229 Baraitser-Winter syndrome
DOID:0060232 branchiootic syndrome
DOID:0060316 orofaciodigital syndrome I
DOID:0060321 umbilical hernia
DOID:0060327 omphalocele
DOID:0060359 Sakati-Nyhan syndrome
DOID:0060380 orofaciodigital syndrome X
DOID:0060390 distal 10q deletion syndrome
DOID:0060391 chromosome 13q14 deletion syndrome
DOID:0060394 chromosome 15q13.3 microdeletion syndrome
The Human Phenotype Ontology
Displaying entries 1 - 10 of 46 in total
HPO ID HPO Term
HP:0000006 Autosomal dominant inheritance
HP:0000007 Autosomal recessive inheritance
HP:0000104 Renal agenesis
HP:0000122 Unilateral renal agenesis
HP:0000143 Rectovaginal fistula
HP:0000148 Vaginal atresia
HP:0000200 Short lingual frenulum
HP:0000243 Trigonocephaly
HP:0000248 Brachycephaly
HP:0000252 Microcephaly
Displaying all 6 entries
Disease ID Disease Name
ORPHA:217266
  • BNAR syndrome
OMIM:608980
  • BNAR syndrome
ORPHA:3366
  • isolated trigonocephaly
OMIM:614485
  • trigonocephaly 2
ORPHA:2717
  • oculotrichoanal syndrome
OMIM:248450
  • oculotrichoanal syndrome
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 1 - 10 of 73 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
103177741 CALMI13662
102349857 LATCH05287
100216326 ZFIN:ZDB-GENE-081119-1 DANRE41732
557221 ZFIN:ZDB-GENE-050208-783
108268187 ICTPU32960
113580476 ELEEL26806
100380660 SALSA89806
115194232 SALTR88980
101171475 ORYLA19590
100690162 ORENI51880
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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