Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
341640
Gene name Gene Name - the full gene name approved by the HGNC.
FRAS1 related extracellular matrix 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FREM2
Synonyms (NCBI Gene) Gene synonyms aliases
CRYPTOP, FRASRS2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRYPTOP, FRASRS2
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001654 Process Eye development IMP 29688405, 30802441
GO:0001822 Process Kidney development IEA
GO:0002009 Process Morphogenesis of an epithelium IEA
GO:0005515 Function Protein binding IPI 29688405
GO:0005604 Component Basement membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608945 25396 ENSG00000150893
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs775394591
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Fraser syndrome Cryptophthalmos syndrome, FRASER SYNDROME 2, FRASER SYNDROME 1, Fraser syndrome rs1566169711, rs120074156, rs120074157, rs120074158, rs120074159, rs730882178, rs730882179, rs730882180, rs397514485, rs397514486, rs794727195, rs794727365, rs377046630, rs886037766, rs886037765
View all (16 more)
17163535, 18671281, 15838507, 29688405, 30802441
Unknown
Disease term Disease name Evidence References Source
Ambiguous genitalia Ambiguous Genitalia ClinVar
Pulmonary hypoplasia Congenital hypoplasia of lung ClinVar
Renal hypoplasia Congenital hypoplasia of kidney ClinVar
Fraser Syndrome Fraser syndrome 1 GenCC
Associations from Text Mining
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