FREM3 (FRAS1 related extracellular matrix 3)

Gene

• Entrez ID: 166752
• Gene name: FRAS1 related extracellular matrix 3
• Gene symbol: FREM3
• Synonyms (NCBI Gene): -
• Chromosome: 4
• Chromosome location: 4q31.21
• Summary: This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The protein belongs to the family of FRAS1/FREM extracellular matrix proteins and may play a role cell adhesi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2231400	hsa-miR-1258	CLIP-seq
MIRT2231401	hsa-miR-1267	CLIP-seq
MIRT2231402	hsa-miR-1298	CLIP-seq
MIRT2231403	hsa-miR-3692	CLIP-seq
MIRT2231404	hsa-miR-4266	CLIP-seq
MIRT2231405	hsa-miR-4652-3p	CLIP-seq
MIRT2231406	hsa-miR-4778-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	ISS
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0007154	Process	Cell communication	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	NAS	18661360
GO:0009653	Process	Anatomical structure morphogenesis	IBA
GO:0016020	Component	Membrane	IEA
GO:0031012	Component	Extracellular matrix	TAS	22261194
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 608946
• HGNC: 25172
• e!Ensembl: ENSG00000183090

Protein

• UniProt ID: P0C091
• Protein name: FRAS1-related extracellular matrix protein 3
• Protein function: Extracellular matrix protein which may play a role in cell adhesion.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16184	Cadherin_3	291 → 411		Domain
  PF16184	Cadherin_3	415 → 524		Domain
  PF16184	Cadherin_3	526 → 594		Domain
  PF16184	Cadherin_3	685 → 809		Domain
  PF16184	Cadherin_3	812 → 922		Domain
  PF16184	Cadherin_3	924 → 1040		Domain
  PF16184	Cadherin_3	1053 → 1173		Domain
  PF16184	Cadherin_3	1177 → 1287		Domain
  PF16184	Cadherin_3	1289 → 1406		Domain
  PF16184	Cadherin_3	1409 → 1517		Domain
  PF16184	Cadherin_3	1521 → 1627		Domain
  PF16184	Cadherin_3	1642 → 1758		Domain
  PF03160	Calx-beta	1770 → 1862	Calx-beta domain	Domain
  PF03160	Calx-beta	1875 → 1985	Calx-beta domain	Domain
  PF03160	Calx-beta	1999 → 2106	Calx-beta domain	Domain

• Sequence:

  MAGASRHPTGTPRQLLVALACLLLSRPALQGRASSLGTEPDPALYLPARGALDGTRPDGP
  SVLIANPGLRVPLGRSLWLDPLRDLVIGVQPGDRCEVTVLDALPRLKGALSPRRFPCTFG
  PRQVQYTHFGSHSPGRARVLLQLRYDAPTHTLVLPFTLAVDLVFSQLELVTRNRPLVVEK
  LRSWSRAIDRRVLDFASLKSGATATRRCRLTPLPHEDGPLPKYGRLVDAVGAPLPRGKGV
  DCEAFLRAGVRYQHTATSSPNRDYVPMMVELLGPEGQDAGSAGVLVREHFQLLVRIRGGA
  ENTPPRPSFMATMMMEVDPLVLTALTPDALAAEDVESDPGDLVFNILNAPTHPPGHPGQQ
  GYVVSTDDPLGLPVSFFTQQELRELKIAYQPPAENSHGERLFQLELEVVDGDGAASDPFA
  FMVTVKSMNTLVPVASHNRGLVLFEGQSRPLSSTHSIPISDKDNLEEVKMAAVRGLRHGQ
  LVVFGAPAGCKYFTPADLAAGRVVYQHDGSNTYSDNIIFRMEDGHHQVDFLFPLTILPVD
  DEPPMVNTNTGLSLTEGQVVQISPFVLSATDIDSEDSTIHFVLENQPLKGNEEEPQWELA
  PGSSHSGHYLGDLLLQQAELPLSTEDEDWHYMEKEGLYEKVVTEWLQRDIMEGRLFYRHL
  GPHSPQSVMVQLAFHVQDDHDPPNLSKQHIFTIKVQPVDILSPQLYPGTTLEMTVQEYQL
  THFQKNFLRYIDQDSDDQNLWYTLLTLPTDTDGNHQVRAGEIVLTDSPDTLIMHFTQAQV
  NQHKVAYQPPQKLGIAPRVVQFTYQVEDAAGNSVPGTFTLFLQPVDNQPPEVTNRGFAIL
  EGGSFNLSSNELHVTDPDTDIDQIVFILVRGPQHGHLQYFKRCMVPGESFMQADVINGSV
  SYQHGRDQTTTSDTFHLEVSDGVHHIPITIPISVHPNVANRSPRISLRSSSLLDVSIDVL
  ENKATEITMGVIHGKRKDVGDLMLSFIVKDSPKLGTILVNGLPTERFTQEDLINGRVAYA
  HTAGEVGFQKQHDAFSLILSKDSYQWVVGNSIIEKVQVQVTVLPVDNVGPKVFVGESFIV
  YEGEKNSLTLQHLHVEDVDTHQDELLCTVTSQPASGYLEKIASAPGSKMSQSGSPISAFS
  LRDIQVRHINYVQSIHKGVEPQEDQFTFYCSDGINFSPNVFFPIIILPTNDEQPKLFAHE
  FKVLEGMSLVIDTQLLNGADADLPPNELHFQLTALPRHGRIIQQLATGSQPIHSFTLKEI
  QEASTIVYEHDDSETKEDSFEVWLSDGKHTTHRKVPIVVTLVDDETPHLTVNNGLKVEKG
  HSEIITNRILKATDLDSDDKSLSFVLHSGPQQGLLQRLRKPRGEVRNNLTLGMNFTQDEI
  NRGLICYIHTGQEGIVDIIKFDVTDGVNTLTDHYFYVTIGNLDSVFPEVISKRITLIEGA
  RVTLTNNLLTNSDINSSDEHHFSITRAPSLGHLESSDYAGEPIASFTQLQLASNKISYVH
  TSNDEKKMDSFEFQVIGELYPVFRTFRIFITDVDNKKPILTIHRLTLQKEDSQLITLLEL
  TVEDSDTPDDLILFTITQVPMHGKILYNGSRPVTTFTKQDLNKNLISYKHDGSETTEDSF
  SLTVTDGTHTDFYVLPDTALATHKPQVMRVQIRSLDNRLPQITTNRGAPALKRLHTGHMG
  FLITSKSLKAEDQDSPHRLLKYKVTRGPEHGFIIKTGLGNQSTRVFTQADIDEMKISYVL
  NEGSNASKDIFYFSVEDNGGNKLTNQPFHLNWAWICLEKEYYIVDEDSTFLEVTLTRRGY
  LGETSFISIGTKDETAKKDKDFKWKTNKQIQFNPGQTTATWRVRIIPDNEYETSETFQII
  LSEPLMAVLEFPEMATVEIVDPGDESTVYIPEAEYKIEEDIGELLIPVRRSGDASQELIV
  ICSTRQGSATGTISSTVLFSDYISRPEDHTSILHFDKNETQKTCQVLIIDDSLYEEEESF
  SVSLRLPVGGQLGARFPTTKVTILADRYDEPVLHFGDAEYHVNESARYVEVCVWRRGTDL
  SQPSSIAVRSRKSEQESAEAGTDYVGISRNLDFAPGVRMQTFQVTILDDLGQPTLEGPEK
  FELLLQMPMGAVLGEPNKTTIFIEDTITDCKQSACSSFD

• Sequence length: 2139

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DEPRESSIVE DISORDER, MAJOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
alpha Thalassemia	Alpha thalassemia	Pubtator	25805752	Associate	★☆☆☆☆ Found in Text Mining only
Cryptophthalmos syndrome	Fraser syndrome	BEFREE	21182980, 31554749		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31554749		★☆☆☆☆ Found in Text Mining only
Involutional Depression	Involutional Depression	CTD_human_DG	26441752		★☆☆☆☆ Found in Text Mining only
Involutional paraphrenia	Involutional Paraphrenia	CTD_human_DG	26441752		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	22337703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	22337703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	CTD_human_DG	26441752		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychosis, Involutional	Psychosis	CTD_human_DG	26441752		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	22337703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	22337703		★★☆☆☆ Found in Text Mining + Unknown/Other Associations