KEGG   Homo sapiens (human): 341640
Entry
341640            CDS       T01001                                 
Symbol
FREM2, CRYPTOP, FRASRS2
Name
(RefSeq) FRAS1 related extracellular matrix 2
  KO
K23380  FRAS1-related extracelluar matrix protein 1/2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04512  ECM-receptor interaction
Disease
H00687  Fraser syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    341640 (FREM2)
SSDB
Motif
Pfam: Cadherin_3 Frem_N Calx-beta Big_9
Other DBs
NCBI-GeneID: 341640
NCBI-ProteinID: NP_997244
OMIM: 608945
HGNC: 25396
Ensembl: ENSG00000150893
UniProt: Q5SZK8
Position
13:38687077..38887131
AA seq 3169 aa
MHSAGTPGLSSRRTGNSTSFQPGPPPPPRLLLLLLLLLSLVSRVPAQPAAFGRALLSPGL
AGAAGVPAEEAIVLANRGLRVPFGREVWLDPLHDLVLQVQPGDRCAVSVLDNDALAQRPG
RLSPKRFPCDFGPGEVRYSHLGARSPSRDRVRLQLRYDAPGGAVVLPLVLEVEVVFTQLE
VVTRNLPLVVEELLGTSNALDARSLEFAFQPETEECRVGILSGLGALPRYGELLHYPQVP
GGAREGGAPETLLMDCKAFQELGVRYRHTAASRSPNRDWIPMVVELRSRGAPVGSPALKR
EHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAESPSDLLIFNLT
SPFQPGQGYLVSTDDRSLPLSSFTQRDLRLLKIAYQPPSEDSDQERLFELELEVVDLEGA
ASDPFAFMVVVKPMNTMAPVVTRNTGLILYEGQSRPLTGPAGSGPQNLVISDEDDLEAVR
LEVVAGLRHGHLVILGASSGSSAPKSFTVAELAAGQVVYQHDDRDGSLSDNLVLRMVDGG
GRHQVQFLFPITLVPVDDQPPVLNANTGLTLAEGETVPILPLSLSATDMDSDDSLLLFVL
ESPFLTTGHLLLRQTHPPHEKQELLRGLWRKEGAFYERTVTEWQQQDITEGRLFYRHSGP
HSPGPVTDQFTFRVQDNHDPPNQSGLQRFVIRIHPVDRLPPELGSGCPLRMVVQESQLTP
LRKKWLRYTDLDTDDRELRYTVTQPPTDTDENHLPAPLGTLVLTDNPSVVVTHFTQAQIN
HHKIAYRPPGQELGVATRVAQFQFQVEDRAGNVAPGTFTLYLHPVDNQPPEILNTGFTIQ
EKGHHILSETELHVNDVDTDVAHISFTLTQAPKHGHMRVSGQILHVGGLFHLEDIKQGRV
SYAHNGDKSLTDSCSLEVSDRHHVVPITLRVNVRPVDDEVPILSHPTGTLESYLDVLENG
ATEITANVIKGTNEETDDLMLTFLLEDPPLYGEILVNGIPAEQFTQRDILEGSVVYTHTS
GEIGLLPKADSFNLSLSDMSQEWRIGGNTIQGVTIWVTILPVDSQAPEIFVGEQLIVMEG
DKSVITSVHISAEDVDSLNDDILCTIVIQPTSGYVENISPAPGSEKSRAGIAISAFNLKD
LRQGHINYVQSVHKGVEPVEDRFVFRCSDGINFSERQFFPIVIIPTNDEQPEMFMREFMV
MEGMSLVIDTPILNAADADVPLDDLTFTITQFPTHGHIMNQLINGTVLVESFTLDQIIES
SSIIYEHDDSETQEDSFVIKLTDGKHSVEKTVLIIVIPVDDETPRMTINNGLEIEIGDTK
IINNKILMATDLDSEDKSLVYIIRYGPGHGLLQRRKPTGAFENITLGMNFTQDEVDRNLI
QYVHLGQEGIRDLIKFDVTDGINPLIDRYFYVSIGSIDIVFPDVISKGVSLKEGGKVTLT
TDLLSTSDLNSPDENLVFTITRAPMRGHLECTDQPGVSITSFTQLQLAGNKIYYIHTADD
EVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIHKLVVSESENKLITPFELTVED
RDTPDKLLKFTITQVPIHGHLLFNNTRPVMVFTKQDLNENLISYKHDGTESSEDSFSFTV
TDGTHTDFYVFPDTVFETRRPQVMKIQVLAVDNSVPQIAVNKGASTLRTLATGHLGFMIT
SKILKVEDRDSLHISLRFIVTEAPQHGYLLNLDKGNHSITQFTQADIDDMKICYVLREGA
NATSDMFYFAVEDGGGNKLTYQNFRLNWAWISFEKEYYLVNEDSKFLDVVLKRRGYLGET
SFISIGTRDRTAEKDKDFKGKAQKQVQFNPGQTRATWRVRILSDGEHEQSETFQVVLSEP
VLAALEFPTVATVEIVDPGDEPTVFIPQSKYSVEEDVGELFIPIRRSGDVSQELMVVCYT
QQGTATGTVPTSVLSYSDYISRPEDHTSVVRFDKDEREKLCRIVIIDDSLYEEEETFHVL
LSMPMGGRIGSEFPGAQVTIVPDKDDEPIFYFGDVEYSVDESAGYVEVQVWRTGTDLSKS
SSVTVRSRKTDPPSADAGTDYVGISRNLDFAPGVNMQPVRVVILDDLGQPALEGIEKFEL
VLRMPMNAALGEPSKATVSINDSVSDLPKMQFKERIYTGSESDGQIVTMIHRTGDVQYRS
SVRCYTRQGSAQVMMDFEERPNTDTSIITFLPGETEKPCILELMDDVLYEEVEELRLVLG
TPQSNSPFGAAVGEQNETLIRIRDDADKTVIKFGETKFSVTEPKEPGESVVIRIPVIRQG
DTSKVSIVRVHTKDGSATSGEDYHPVSEEIEFKEGETQHVVEIEVTFDGVREMREAFTVH
LKPDENMIAEMQLTKAIVYIEEMSSMADVTFPSVPQIVSLLMYDDTSKAKESAEPMSGYP
VICITACNPKYSDYDKTGSICASENINDTLTRYRWLISAPAGPDGVTSPMREVDFDTFFT
SSKMVTLDSIYFQPGSRVQCAARAVNTNGDEGLELMSPIVTISREEGLCQPRVPGVVGAE
PFSAKLRYTGPEDADYTNLIKLTVTMPHIDGMLPVISTRELSNFELTLSPDGTRVGNHKC
SNLLDYTEVKTHYGFLTDATKNPEIIGETYPYQYSLSIRGSTTLRFYRNLNLEACLWEFV
SYYDMSELLADCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLKSEL
RLTFVYDTAILWNDGIGSPPEAELQGSLYPTSMRIGDEGRLAVHFKTEAQFHGLFVLSHP
ASFTSSVIMSADHPGLTFSLRLIRSEPTYNQPVQQWSFVSDFAVRDYSGTYTVKLVPCTA
PSHQEYRLPVTCNPREPVTFDLDIRFQQVSDPVAAEFSLNTQMYLLSKKSLWLSDGSMGF
GQESDVAFAEGDIIYGRVMVDPVQNLGDSFYCSIEKVFLCTGADGYVPKYSPMNAEYGCL
ADSPSLLYRFKIVDKAQPETQATSFGNVLFNAKLAVDDPEAILLVNQPGSDGFKVDSTPL
FQVALGREWYIHTIYTVRSKDNANRGIGKRSVEYHSLVSQGKPQSTTKSRKKREIRSTPS
LAWEIGAENSRGTNIQHIALDRTKRQIPHGRAPPDGILPWELNSPSSAVSLVTVVGGTTV
GLLTICLTVIAVLMCRGKESFRGKDAPKGSSSSEPMVPPQSHHNDSSEV
NT seq 9510 nt   +upstreamnt  +downstreamnt
atgcactcagccgggactcccgggttatcctcgcgccggacaggcaactccaccagcttt
caaccaggaccgccaccgccgccccggctgctgctgctgctgctgcttctcctgtcactg
gtaagccgcgtcccggcacagcccgctgccttcggcagggcgttgctgtcccctggtctc
gcgggggctgcaggggtccctgctgaggaggccatagtgctggcgaaccgcggactccgg
gtgcctttcggccgtgaagtctggctggatcccctgcatgacctggtgttgcaggtgcag
cccggggaccgctgcgcggtttcggtactagacaacgacgcactggcccagcgaccgggc
cgcctgagtcccaagcgcttcccgtgcgactttggccctggcgaggtgcgctactctcac
ctgggcgcgcgcagcccgtctcgggaccgcgtccggctgcagctgcgctatgacgcgccc
ggaggggcagtagtgctaccactggtactggaggtggaggtggtcttcacccagctggag
gttgtgactcggaacttgcctctggtcgtggaagagctgctggggaccagcaatgccctg
gacgcgcggagcctggagttcgccttccagcccgagacagaggagtgccgcgtgggcatc
ctgtccggcttgggcgcgctgcctcgctatggagaactcctccactacccgcaggtccct
ggaggagccagagagggaggcgccccggagactctcctgatggactgcaaagctttccag
gaactaggcgtgcgctatcgccacacagccgccagtcgctcaccaaacagggactggata
cccatggtggtggagctgcgttcacgaggggctcctgtgggcagccctgctttgaaacgc
gagcacttccaggttctggtgaggatccgaggaggggccgagaacactgcacccaagccc
agtttcgtggccatgatgatgatggaggtggaccagtttgtactgacggccctgacccca
gacatgctggcagccgaggatgctgagtctccctctgacctgttgatcttcaaccttact
tctccattccagcctggccagggctacttggtgagcaccgatgatcgcagcctgcccctt
tcctccttcactcagagggatctgcggctcctgaagattgcctaccagcccccttctgaa
gactctgaccaggagcgcctctttgaactggaattggaggtagtggatctagaaggagca
gcttcagacccttttgccttcatggtagtggtgaagcccatgaacacaatggctccggtg
gtcacccggaataccggtcttattctctatgagggtcagtctcggcccctcacaggccct
gcaggcagtggtccgcaaaacttggtcatcagcgatgaggatgacctagaagcagtgcgg
ctagaggtggtggctgggctccggcatggtcaccttgtcattctgggtgcttccagtggc
agctctgctcccaagagctttacagtggctgagctggcagccggccaggtggtctaccag
catgatgacagagacggctcgctgagcgacaacctggtgcttcgcatggtggatggagga
ggcaggcaccaggtacagtttctgttccccatcaccttagtgcctgtggatgaccagcca
cctgttctcaatgccaacacggggctgacactggcagagggtgaaacagtgcccatcctg
cccctttccctgagtgcaactgacatggattcagatgattctctgctgctttttgtgctg
gagtcacccttcttaactacggggcatctgcttctccgccaaactcaccctccccatgag
aagcaggaacttctcagaggcctttggaggaaggagggggcattttatgagcgaacagtg
acagagtggcagcagcaggacataacagagggcaggctgttctatagacactctgggccc
catagtcctgggccagtcacagaccagttcacatttagagtccaggataaccatgaccct
cctaatcagtccgggctacagcggtttgtgattcgtatccatcctgtggatcgcctccct
ccggagctgggcagtggctgtccccttcgtatggtggtacaggaatcccagctcacacca
ctgaggaagaagtggctgcgctacactgacctggacacagatgaccgagaactacgttac
acagtgactcagccccccacagacacagacgaaaatcacctgccagccccactgggtacc
ttggtcttgactgacaacccctcagtcgtggtgacccattttacccaagcccagatcaac
catcataaaattgcttacagacccccgggtcaagaactgggcgtggctactcgagtggcc
cagttccagttccaggtggaagaccgagctgggaatgtggctccaggtacctttaccctt
tacttgcatcccgtggacaaccagccacctgagatcctcaacaccggcttcactattcag
gagaagggtcaccacatcctgagtgagacagagttgcacgtgaatgatgtagacactgat
gttgcccatatctctttcactctcactcaggcacccaaacatggccacatgagagtgtct
ggacagatcctgcatgtagggggtctcttccacttggaggacataaaacagggccgagtt
tcctatgcccataatggggacaagtccctgactgatagctgctccttggaagtcagtgac
agacatcatgtggtgcccatcactctcagagtaaatgtccggccagtggatgatgaagtg
cccatactgagccatcctactggcactctggagtcctatctagatgtcttagaaaatggg
gctactgaaatcactgccaatgttattaaggggaccaatgaggaaactgatgacttgatg
ttgactttcctcttggaagatccacctttgtatggggaaatcttggtcaatggcattcca
gcagagcagtttactcaaagggacatcttggagggctctgttgtatatacccacaccagt
ggtgagataggcctattgcctaaagcggattcttttaacctgagtctgtcagatatgtct
caagaatggagaattggtggcaatactatccaaggagttactatatgggtgaccatcctg
cctgttgatagccaggccccagaaatctttgtaggtgaacagttgatagtaatggaaggt
gataaaagtgttataacatcagtgcatataagtgctgaagatgtcgactccctgaatgat
gacatcttgtgcactatagttattcagcctacttcaggttatgttgaaaacatttctcca
gcaccaggctctgagaaatcaagagcagggattgccataagtgctttcaacttgaaagat
ctcaggcagggccacataaactatgtccagagtgtccataaaggggtggaacctgtggag
gaccgatttgtatttcgttgttctgatggcattaacttttcagagagacagttcttcccc
attgtaatcattcccaccaatgatgaacagccagagatgtttatgagagaatttatggtg
atggaaggcatgagtctggtaattgatacacccattctcaatgctgctgatgctgatgtt
cccctggatgatttaactttcactattacccaattccccactcatggtcacatcatgaat
cagctgataaatggcacggttttggtcgaaagcttcaccttggatcagatcatagagagt
tccagcattatttatgagcatgatgactccgagacccaggaagacagttttgtgattaaa
ctaacagatgggaagcactctgtggaaaagacggtcctcattatagttatccctgttgat
gatgagacgcccagaatgactatcaataatggactagaaatagaaattggggataccaag
attatcaacaacaaaatattaatggcaacagatttagattcagaagacaaatctttggtt
tatattattcgttatgggccaggacatggcttattacagagacgaaaacctactggtgcc
tttgaaaatatcacactgggcatgaattttacccaggatgaagtagacagaaacttaatt
cagtatgtccatttggggcaagagggcattcgggacctaattaaatttgatgtgactgat
ggaataaatcccctcatagatcgttacttttatgtgtccatcgggagcattgacattgtc
ttccctgatgtgataagtaagggagtgtccttgaaagaaggtggcaaagtcactcttaca
acagacctactaagcactagtgacttgaacagtcctgatgaaaacttggtttttaccatc
accagggctcccatgcgaggtcacctggaatgcacggatcagcctggtgtgtccatcacg
tctttcactcagctgcaactggctggaaacaaaatctactacatccacacagctgatgat
gaagtgaaaatggacagttttgagtttcaagtcaccgatggacgtaaccctgtctttcgg
acattccgtatctccattagcgatgtggacaataaaaagccagtggtcaccatccacaag
ctggttgtcagtgaaagtgaaaacaagctgattactccttttgagctcactgtcgaagac
agagatactcctgacaagctcctgaaattcactatcacccaggtgcctattcatggccat
ctcctattcaacaataccagacctgtcatggtttttaccaagcaagacttgaatgaaaac
ttaatcagctacaaacatgatggcactgagtcaagtgaagatagcttctccttcacagtg
actgatggcacccatacagacttctatgtttttcctgatacggtgtttgaaacaaggaga
ccccaagtgatgaagatccaggtcttggctgttgacaacagtgtcccccaaatcgcagtg
aataagggggcctctacacttcgcactctagccactggccacttggggttcatgatcaca
agcaaaatattgaaagtggaggacagagacagcttacacatttctcttagatttatcgtg
acagaggcccctcaacatggatatcttctcaacctggacaaaggcaaccacagcatcact
cagttcacacaagctgacattgatgacatgaaaatatgctatgtcttaagagaaggggct
aatgccacaagtgatatgttctattttgcagttgaagatggtggtggaaacaagttaacg
taccagaattttcgtctgaattgggcatggatctcctttgaaaaggaatattacctggtc
aatgaggactccaaatttctagatgttgttcttaaacgtagaggttacttgggagaaact
tcttttataagtattggcacaagagacagaactgcagaaaaagacaaagacttcaagggc
aaagcacagaaacaagtgcagttcaacccaggccagaccagggccacatggcgagtgcgg
atcctgagtgatggggagcatgagcagtctgaaacctttcaggtggtactctcagagccc
gtgctggctgccttggaattccccacagtcgccactgttgagatcgttgatccaggagat
gagccaactgtgtttattccccagtccaaatactccgttgaagaagatgttggtgagctg
ttcattcccatcaggaggagcggagatgtgagccaggagttgatggtggtctgttatacc
caacaaggaacagcaactggaactgtgccgacttccgtgttgtcttactctgattacata
tccaggcctgaggaccacaccagtgttgtccgctttgacaaagatgaacgggagaaactg
tgtcggatagtcataattgatgactctttgtacgaggaggaggaaaccttccatgtcctt
ctgagcatgcccatggggggaagaatcggatcagagttcccaggggctcaagttacaatc
gttcctgacaaagatgatgaacccatcttttacttcggtgatgtggaatactctgtggat
gagagtgctggctatgtggaagtgcaggtgtggagaacgggcactgacctgtccaagtct
tctagtgtcacagtgaggtctcggaaaacagatcctccctctgcagatgctggaacagac
tatgtgggcatcagccgtaatttagattttgcacctggagtcaacatgcagcctgttcgt
gttgtcattctggatgaccttggacaaccagcgctggagggaattgagaaatttgaactg
gtgcttcgcatgcctatgaacgcagcccttggcgagcccagcaaagccacagtgtccata
aatgactctgtctccgatttgcctaagatgcaattcaaagaacgaatatatactggcagc
gaaagtgatgggcagatagttacaatgatccataggactggggatgtccagtacagatct
tcagtgagatgctacacccggcaggggtctgcacaggtgatgatggactttgaagaacgc
ccaaacactgatacctccatcatcacattcctccctggtgagacagaaaagccctgcatt
cttgagctgatggacgatgtgctctatgaggaggtagaggagctccgcctggtactcggc
actccacaaagcaactctccctttggggctgcagttggtgaacaaaatgaaactctcata
aggatccgagatgatgctgataagactgttattaaatttggagaaaccaaatttagtgtc
actgaacccaaagaacctggagagtcggtggttataagaattccagtgattcgccaagga
gacacttcaaaggtttccattgtgagagtccacaccaaggatggctcggccacctctgga
gaagactaccaccctgtgtcagaagaaattgagtttaaggaaggggaaacccagcacgtg
gttgaaatcgaagttacctttgacggggtgagagagatgagagaggccttcactgttcac
ctaaaacctgatgaaaatatgatagcagagatgcagttgacgaaagccattgtgtacata
gaagaaatgagcagcatggcagatgtcacttttccttctgtccctcaaattgtatccctg
ttgatgtatgacgacacttccaaagctaaggagagtgctgaacccatgtctggctatcct
gtcatctgtatcacagcttgcaaccccaaatattcagactacgataaaacaggctctatc
tgtgcaagtgagaacatcaatgacactttgacgcggtaccggtggctgattagtgcacct
gcgggccctgacggtgtgaccagccctatgagagaagtggacttcgacaccttttttacg
tcatccaagatggtcacactggactccatatactttcagcctggctcccgggtacagtgc
gcagctcgtgctgtgaacaccaatggggatgaaggcctggagctcatgagccctattgta
accatcagcagagaagaaggtctttgtcagccccgtgtacctggggttgttggagcagag
ccgttctcagctaaattgcgctacacaggccctgaggatgcagactacacaaaccttatc
aagctcactgtcacaatgccacacatagatggcatgctccccgtgatctccactagagag
ctttccaactttgagctcaccctcagccctgatggcacaagagttggaaaccacaagtgc
tccaacctcctggattatactgaagtgaagactcattatggtttcttgactgatgctacc
aaaaatccagaaataattggagagacatatccttaccagtacagcttgtccatcagaggt
tccactaccttgcgcttctaccggaacctgaacctagaggcctgtttatgggagttcgtt
agctactatgacatgtcagaactccttgctgactgtggtggcaccattggaacagatgga
caggtcctaaacctagtgcagtcctatgtgacccttcgagtccctctgtatgtttcctac
gtgttccattcccccgtgggggtaggaggctggcagcattttgacttgaagtcagagctt
cgtctaacttttgtgtacgacaccgccatcttgtggaatgatggaattggcagcccccca
gaggctgaacttcaaggttctctctatccaaccagcatgcgcatcggtgatgaggggcgc
ttggccgtgcacttcaagacagaggctcagttccatggcttatttgtgctgtcacatccc
gcatcctttacaagctcagtgatcatgtcagctgatcatccaggcctgacattttccctc
cgcctcataaggagtgaaccaacctataaccagccagtacagcagtggagctttgtctct
gactttgccgtacgtgactactcagggacctatactgtgaagctggtgccatgcactgcc
ccatcacatcaggaataccgcctgccagtcacctgcaaccccagagaacctgtcaccttt
gaccttgacatccgattccaacaggtcagtgatccagtggctgctgagtttagcttgaac
acccaaatgtacctgctctctaagaagagtctctggttgtctgatggatccatgggattc
gggcaagagagtgatgttgcttttgcagaaggtgatataatttatggtcgtgtcatggtg
gatcctgtccagaatctgggtgactccttttactgcagcattgagaaggtgtttctatgc
actggagctgatggctatgttcccaagtatagtccaatgaatgcagaatatggctgctta
gccgactctccttcactcttatatagatttaaaattgtggacaaagctcagccagagaca
caagcgaccagttttggaaatgtcctatttaatgccaaactagcagtggatgaccctgaa
gccattctcttagtgaatcagcctggatctgatggatttaaagtcgactcaacaccactc
tttcaggtcgctctaggccgagaatggtatatacatacgatctatacagtgagatcgaaa
gacaatgccaatcgaggtattggcaaaagaagtgtggagtaccattctctggtgagtcaa
ggaaagccccaatccaccaccaagagccggaagaagagagagatcaggagcacaccctca
ctggcatgggagattggtgctgaaaacagtcgaggaacaaacatccagcacattgccctg
gaccgcaccaagaggcagatcccccatgggagagcacctccagatggcatcctcccctgg
gagctcaacagccccagctctgcagtcagcctggtcactgtggtgggaggcaccacggta
gggttactcaccatctgcctcactgtcattgcagtgctgatgtgcaggggcaaggaaagt
ttcagggggaaggatgccccgaaaggctccagcagcagtgagcccatggtgcccccacag
agccatcacaatgacagctcagaagtttga

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