Tag | Content |
---|---|
Uniprot ID | A0A287B0J8 |
Entrez ID | |
Genbank protein ID | HDB28257.1 |
Genbank nucleotide ID | |
Ensembl protein ID | ENSSSCP00000049939 |
Ensembl nucleotide ID | ENSSSCG00000032637 |
Gene name | Ellis-van Creveld syndrome protein isoform 2 |
Gene symbol | EVC |
Organism | Sus scrofa |
NCBI taxa ID | 9823 |
Cleft type | |
Developmental stage | |
Data sources | Homology search |
Reference | |
Functional description | |
Sequence | MARDAATCGS DARLQLGRDA ARPVPALLVP AVLLGAALGL GLGLWLGCRA VRPRPRHQKD 60 DTQSLLQNLE SNVQTPPEAG SPPRRRKREA QTSKDEAALD ECRPPFNSNI TAFALKAKVV 120 YPINQKFRPL ADGSSNPSLH ETLKQAVLPN QPVEASPCSS LGSLSQAEKD DCSSSSSVPS 180 AASDDRILGR TFLGVRSFPE ALTCESVDLD LCILNLHLKD LLRLDEALRQ EKHVMFIQIL 240 KMCLLDLLPK KKSDDELYQK ILSKQRNNLE ELEKSLQVRL SNTEALGAGD SEDITLADVE 300 RKEREYSEQL IANMEAFWQQ MESIQHFLVD QFKCSSSKAR QLAMTLTERM IAAEGLLRDS 360 QDLHALDALE RTMGRVHMAK TIEFLKLQIQ EETKCRLAAI SRSLEQLAVE GTLSGRQKEE 420 LLTQQHKAFW EEVEHFNREF VQRGKDLVTA SLVRQAEEMT RLTLAQQEER GRLQAEMELT 480 EDPKGFLQAF HELLERQRLM QSDLEEEGDV GATQAVATLC QELYRSAMDT FQKFVDVLFL 540 QTLPRVTGLS QAECEYLKQE AQENAALQLG KSDRFRSQQW KLFQDLQEQE KQVWMEEHTL 600 STVLQTHLQD DHESIIHQVL DQLGGLSEES TQGILQGHEL LLCSALRRLA LRGSAITTLT 660 QMRLSGKKSL LQELREQHAL EQGSSQCLDE HQWQLLRALE ARVLEEASRL EEEAQQMRLQ 720 LQQQLLAEAQ EVGQLLRQHT ERAVGQALLG HARNTASRSW ARDRDDFKRA LTEAATESIY 780 VTSAGIDRLV QAYYQQIGRA MQEHEERALQ HLKTLQGERT ENYKLRKKQD LGDPVSGAAM 840 AGGVQEASGP VHQRMLAQQT KFLAQLTVHQ RSRLHARKQE ARVMEQLEAQ LETQLQEAEQ 900 RFVTELAALA RVPLAESKAS SSQRGLSDKP LRTKRRKPAP RERGDPGGPK DDDPASGGPP 960 SGLLSKRLSQ QERDLGDGDN SKKMLKRRSN L 991 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
---|---|---|---|---|---|---|---|---|
1:1 ortholog | EVC | 611166 | A0A5F4C2C7 | Canis lupus familiaris | Prediction | More>> | ||
1:1 ortholog | EVC | 102189937 | A0A452FYH3 | Capra hircus | Prediction | More>> | ||
1:1 ortholog | EVC | 2121 | P57679 | CPO,CL/P | Homo sapiens | Publication | More>> | |
1:1 ortholog | Evc | D3YUJ0 | Mus musculus | Prediction | More>> | |||
1:1 ortholog | EVC | 461097 | H2RAB9 | Pan troglodytes | Prediction | More>> | ||
1:1 ortholog | EVC | A0A287B0J8 | Sus scrofa | Prediction | More>> | |||
1:1 ortholog | Evc | 289712 | G3V706 | Rattus norvegicus | Prediction | More>> |
GO ID | GO Term |
---|---|
GO:0036064 | ciliary basal body |
GO:0060170 | ciliary membrane |
GO:0016021 | integral component of membrane |
GO:0098797 | plasma membrane protein complex |
GO:0003416 | endochondral bone growth |
GO:0045880 | positive regulation of smoothened signaling pathway |
GO:0007224 | smoothened signaling pathway |