Gene Gene information from NCBI Gene database.
Entrez ID 341640
Gene name FRAS1 related extracellular matrix 2
Gene symbol FREM2
Synonyms (NCBI Gene)
CRYPTOPFRASRS2
Chromosome 13
Chromosome location 13q13.3
Summary This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epider
SNPs SNP information provided by dbSNP.
27
SNP ID Visualize variation Clinical significance Consequence
rs41286130 G>A Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, coding sequence variant, synonymous variant
rs114400765 C>G,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, missense variant, coding sequence variant
rs114688149 T>C Conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, missense variant, coding sequence variant
rs114837786 C>A,G,T Uncertain-significance, pathogenic Genic downstream transcript variant, missense variant, synonymous variant, coding sequence variant
rs121434355 G>A Pathogenic Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
641
miRTarBase ID miRNA Experiments Reference
MIRT020399 hsa-miR-29c-3p Sequencing 20371350
MIRT040156 hsa-miR-615-3p CLASH 23622248
MIRT628213 hsa-miR-3664-5p HITS-CLIP 23824327
MIRT557798 hsa-miR-5011-5p HITS-CLIP 23824327
MIRT628212 hsa-miR-3675-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0001654 Process Eye development IEA
GO:0001654 Process Eye development IEA
GO:0001654 Process Eye development IMP 29688405, 30802441
GO:0001822 Process Kidney development IEA
GO:0002009 Process Morphogenesis of an epithelium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608945 25396 ENSG00000150893
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5SZK8
Protein name FRAS1-related extracellular matrix protein 2 (ECM3 homolog)
Protein function Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507). Involved in the development of eyelids and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16184 Cadherin_3 302 416 Domain
PF16184 Cadherin_3 421 539 Domain
PF16184 Cadherin_3 543 677 Domain
PF16184 Cadherin_3 683 809 Domain
PF16184 Cadherin_3 812 921 Domain
PF16184 Cadherin_3 923 1039 Domain
PF16184 Cadherin_3 1050 1170 Domain
PF16184 Cadherin_3 1173 1284 Domain
PF16184 Cadherin_3 1286 1401 Domain
PF16184 Cadherin_3 1405 1514 Domain
PF16184 Cadherin_3 1516 1623 Domain
PF16184 Cadherin_3 1638 1754 Domain
PF03160 Calx-beta 1762 1858 Calx-beta domain Domain
PF03160 Calx-beta 1871 1982 Calx-beta domain Domain
PF03160 Calx-beta 1996 2103 Calx-beta domain Domain
PF03160 Calx-beta 2116 2220 Calx-beta domain Domain
PF03160 Calx-beta 2238 2342 Calx-beta domain Domain
Sequence
MHSAGTPGLSSRRTGNSTSFQPGPPPPPRLLLLLLLLLSLVSRVPAQPAAFGRALLSPGL
AGAAGVPAEEAIVLANRGLRVPFGREVWLDPLHDLVLQVQPGDRCAVSVLDNDALAQRPG
RLSPKRFPCDFGPGEVRYSHLGARSPSRDRVRLQLRYDAPGGAVVLPLVLEVEVVFTQLE
VVTRNLPLVVEELLGTSNALDARSLEFAFQPETEECRVGILSGLGALPRYGELLHYPQVP
GGAREGGAPETLLMDCKAFQELGVRYRHTAASRSPNRDWIPMVVELRSRGAPVGSPALKR
EHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAESPSDLLIFNLT
SPFQPGQGYLVSTDDRSLPLSSFTQRDLRLLKIAYQPPSEDSDQERLFELELEVVD
LEGA
ASDPFAFMVVVKPMNTMAPVVTRNTGLILYEGQSRPLTGPAGSGPQNLVISDEDDLEAVR
LEVVAGLRHGHLVILGASSGSSAPKSFTVAELAAGQVVYQHDDRDGSLSDNLVLRMVDG
G
GRHQVQFLFPITLVPVDDQPPVLNANTGLTLAEGETVPILPLSLSATDMDSDDSLLLFVL
ESPFLTTGHLLLRQTHPPHEKQELLRGLWRKEGAFYERTVTEWQQQDITEGRLFYRHSGP
HSPGPVTDQFTFRVQDN
HDPPNQSGLQRFVIRIHPVDRLPPELGSGCPLRMVVQESQLTP
LRKKWLRYTDLDTDDRELRYTVTQSPTDTDENHLPAPLGTLVLTDNPSVVVTHFTQAQIN
HHKIAYRPPGQELGVATRVAQFQFQVEDR
AGNVAPGTFTLYLHPVDNQPPEILNTGFTIQ
EKGHHILSETELHVNDVDTDVAHISFTLTQAPKHGHMRVSGQILHVGGLFHLEDIKQGRV
SYAHNGDKSLTDSCSLEVSDR
HHVVPITLRVNVRPVDDEVPILSHPTGTLESYLDVLENG
ATEITANVIKGTNEETDDLMLTFLLEDPPLYGEILVNGIPAEQFTQRDILEGSVVYTHTS
GEIGLLPKADSFNLSLSDM
SQEWRIGGNTIQGVTIWVTILPVDSQAPEIFVGEQLIVMEG
DKSVITSVHISAEDVDSLNDDILCTIVIQPTSGYVENISPAPGSEKSRAGIAISAFNLKD
LRQGHINYVQSVHKGVEPVEDRFVFRCSDG
INFSERQFFPIVIIPTNDEQPEMFMREFMV
MEGMSLVIDTPILNAADADVPLDDLTFTITQFPTHGHIMNQLINGTVLVESFTLDQIIES
SSIIYEHDDSETQEDSFVIKLTDG
KHSVEKTVLIIVIPVDDETPRMTINNGLEIEIGDTK
IINNKILMATDLDSEDKSLVYIIRYGPGHGLLQRRKPTGAFENITLGMNFTQDEVDRNLI
QYVHLGQEGIRDLIKFDVTDG
INPLIDRYFYVSIGSIDIVFPDVISKGVSLKEGGKVTLT
TDLLSTSDLNSPDENLVFTITRAPMRGHLECTDQPGVSITSFTQLQLAGNKIYYIHTADD
EVKMDSFEFQVTDG
RNPVFRTFRISISDVDNKKPVVTIHKLVVSESENKLITPFELTVED
RDTPDKLLKFTITQVPIHGHLLFNNTRPVMVFTKQDLNENLISYKHDGTESSEDSFSFTV
TDG
THTDFYVFPDTVFETRRPQVMKIQVLAVDNSVPQIAVNKGASTLRTLATGHLGFMIT
SKILKVEDRDSLHISLRFIVTEAPQHGYLLNLDKGNHSITQFTQADIDDMKICYVLREGA
NATSDMFYFAVEDG
GGNKLTYQNFRLNWAWISFEKEYYLVNEDSKFLDVVLKRRGYLGET
SFISIGTRDRTAEKDKDFKGKAQKQVQFNPGQTRATWRVRILSDGEHEQSETFQVVLS
EP
VLAALEFPTVATVEIVDPGDEPTVFIPQSKYSVEEDVGELFIPIRRSGDVSQELMVVCYT
QQGTATGTVPTSVLSYSDYISRPEDHTSVVRFDKDEREKLCRIVIIDDSLYEEEETFHVL
LS
MPMGGRIGSEFPGAQVTIVPDKDDEPIFYFGDVEYSVDESAGYVEVQVWRTGTDLSKS
SSVTVRSRKTDPPSADAGTDYVGISRNLDFAPGVNMQPVRVVILDDLGQPALEGIEKFEL
VLR
MPMNAALGEPSKATVSINDSVSDLPKMQFKERIYTGSESDGQIVTMIHRTGDVQYRS
SVRCYTRQGSAQVMMDFEERPNTDTSIITFLPGETEKPCILELMDDVLYEEVEELRLVLG

TPQSNSPFGAAVGEQNETLIRIRDDADKTVIKFGETKFSVTEPKEPGESVVIRIPVIRQG
DTSKVSIVRVHTKDGSATSGEDYHPVSEEIEFKEGETQHVVEIEVTFDGVREMREAFTVH
LK
PDENMIAEMQLTKAIVYIEEMSSMADVTFPSVPQIVSLLMYDDTSKAKESAEPMSGYP
VICITACNPKYSDYDKTGSICASENINDTLTRYRWLISAPAGPDGVTSPMREVDFDTFFT
SSKMVTLDSIYFQPGSRVQCAARAVNTNGDEGLELMSPIVTISREEGLCQPRVPGVVGAE
PFSAKLRYTGPEDADYTNLIKLTVTMPHIDGMLPVISTRELSNFELTLSPDGTRVGNHKC
SNLLDYTEVKTHYGFLTDATKNPEIIGETYPYQYSLSIRGSTTLRFYRNLNLEACLWEFV
SYYDMSELLADCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLKSEL
RLTFVYDTAILWNDGIGSPPEAELQGSLYPTSMRIGDEGRLAVHFKTEAQFHGLFVLSHP
ASFTSSVIMSADHPGLTFSLRLIRSEPTYNQPVQQWSFVSDFAVRDYSGTYTVKLVPCTA
PSHQEYRLPVTCNPREPVTFDLDIRFQQVSDPVAAEFSLNTQMYLLSKKSLWLSDGSMGF
GQESDVAFAEGDIIYGRVMVDPVQNLGDSFYCSIEKVFLCTGADGYVPKYSPMNAEYGCL
ADSPSLLYRFKIVDKAQPETQATSFGNVLFNAKLAVDDPEAILLVNQPGSDGFKVDSTPL
FQVALGREWYIHTIYTVRSKDNANRGIGKRSVEYHSLVSQGKPQSTTKSRKKREIRSTPS
LAWEIGAENSRGTNIQHIALDRTKRQIPHGRAPPDGILPWELNSPSSAVSLVTVVGGTTV
GLLTICLTVIAVLMCRGKESFRGKDAPKGSSSSEPMVPPQSHHNDSSEV
Sequence length 3169
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  ECM-receptor interaction  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1026
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Childhood-onset schizophrenia Likely pathogenic rs863223346 RCV000202338
Congenital diaphragmatic hernia Likely pathogenic rs775394591 RCV000578072
Fraser syndrome 1 Likely pathogenic; Pathogenic rs759257554, rs2137911471, rs2541358924, rs2541504813, rs1171150612, rs767978562, rs752032044 RCV003230695
RCV002238690
RCV002308536
RCV003155888
RCV003486519
RCV002509476
RCV000826108
Fraser syndrome 2 Likely pathogenic; Pathogenic rs2138066721, rs759257554, rs376122266, rs1566169711, rs2541488826, rs2541495847, rs886043213, rs764607184, rs2541497277, rs1219155526, rs2541507235, rs746915794, rs760715972, rs753746099, rs1555261304
View all (12 more)
RCV001844350
RCV005006042
RCV002251218
RCV000002063
RCV003228065
RCV005010877
RCV005008250
RCV003334335
RCV003389277
RCV005012918
RCV003447900
RCV005013074
RCV004594709
RCV005013261
RCV000625674
RCV000625675
RCV000767222
RCV002493397
RCV005860143
RCV005012296
RCV001172418
RCV001172403
RCV001172417
RCV001172402
RCV001172404
RCV001263473
RCV001263472
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Uncertain significance; Likely benign rs9566371, rs766104696, rs756019606 RCV005920163
RCV005932109
RCV005934818
Cholangiocarcinoma Benign; Likely benign rs9548513, rs36084034 RCV005919591
RCV005869293
Clear cell carcinoma of kidney Benign rs7996253 RCV005895163
Congenital anomaly of kidney and urinary tract Uncertain significance; Benign; Likely benign rs199674984, rs143044921, rs61978626, rs548838018 RCV001849611
RCV001849364
RCV001849389
RCV001328304
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 30720096
Cakut Associate 21900877, 29197384
Congenital Microtia Associate 30691450
Fraser Syndrome Associate 21900877, 26552811, 29197384, 29688405, 34837691, 37353237
Hypoadrenocorticism Familial Associate 22031191
Klippel Feil Syndrome Associate 32278351
Neoplasms Associate 30720096
Nervous System Diseases Associate 29688405
Segmentation syndrome 1 Associate 32278351
Trichodental syndrome Associate 37353237