Gene: Evc2

Basic information

Tag Content
Uniprot ID D3ZWN3
Entrez ID 289711
Genbank protein ID EDM00024.1
Genbank nucleotide ID NM_001106012.1
Ensembl protein ID ENSRNOP00000009914
Ensembl nucleotide ID ENSRNOG00000007025
Gene name Ellis van Creveld syndrome 2 homolog (Human) (Predicted)
Gene symbol Evc2
Organism Rattus norvegicus
NCBI taxa ID 10116
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description
Sequence
MGATGLTGTG GQATWVLAGN ILAAALVLGV GPCALPPSFP ALGPGSPSPP DPVGPRASSQ 60
HSDISRDAQG PSENGVIFQK CSLVSGQSES QTMHVQLSVN NTRTPMSANL SDLLVLDDIT 120
GLTVKESPGN VTQEGIQTFR KRFLQVGECY SVSYMASLDP TALGPGESLD LPAQLIFQRP 180
SQNRTQLRAR FTITVEEKIM VLPNHGLHTA GFIAAFLISF LLTLAALFFL ARGRCLQGSM 240
LLRCRVQHPE NKLEPSPFTS ANGVSQDLSL NDQLVAILTS EEPGSMLQAL EELEIATLNQ 300
ADADLEACRN QISKDIIALL MKNLISGGHL SLQTERKMAA AFKKQFLLLE NEIQEEYERK 360
MLALTAECDL EVRKKTENQY QREMVAMEEA EEVLKRVSER SAAECSSLLR TLHGLEQEDL 420
QRSLTLQQAE DFAQAHRQLA VFQRNELHSI VYTQIQSAVA KGELRPEVAK MLLQDYSKTQ 480
ESIEELMDFF QATKRYHLSK RFGHREYLVQ RLQAMETRVQ GLLSTAATQL TSLIHKHERA 540
GYLDEDQMEM LLERAQTETF SIKQKLDNDL KQEKKRLHQK LITKRRRELL QKHKEQQKEQ 600
VSLGEASSTA EDAIQYLQQW RSVMAEHTTA LEELQERLDQ AALDDLRVLT VSLSEKATEE 660
LRRLQSTAMT QELLKRSAPW LFLQQILEEH SRESAARTAQ LEAEERERGQ ELVQGVRQRL 720
QQDAPEACTE EQAELRHWEH LVFTKLCSAA ISLSEEDLLR VRQEAQGCFT QLDRSLALPR 780
VRARVLQQQM QMTWREAEFR KLDQALAVPE LQSKSRKLRS KGRGKADLLK KNLEDKIRLF 840
EERAPEDLAD QVRGELLQER VQRLEAQEAH FAESLVALQF QKVARAAETL SVYTALLSIQ 900
DLLLGELSES ETLTKSACVQ ILESHRPELL ELERMLEDRL VQQEEAEQRR VLESRQRWAA 960
DGPALGEPEE IDPERQVSAV LRQALNKGQK LLEQYQQRVR EEQQNGAVLE DSLESMETDT 1020
MASLCSQGLR LVSYLSRMTM VPGGTLLRLL SVVLPAASQP QLLALLDAVS EKHSDHTAEN 1080
ESGGEQAQAE QGKRRKHQSW WKALDSRFRA DLVSQGLERM LWARRKKESI LKKRYVPVQE 1140
RVVFPGKGSW PHLSLEPIGE LAPIPITGLD TMDILNTGEK IFVFRSPKEP EISLRVPPRR 1200
KKNFLNAKAA SRALGLD 1217

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.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologEVC2F1PZ45Canis lupus familiarisPredictionMore>>
1:1 orthologEVC2A0A452ELR2Capra hircusPredictionMore>>
1:1 orthologEVC2132884Q86UK5Homo sapiensPublicationMore>>
1:1 orthologEvc268525Q8K1G2Mus musculusPredictionMore>>
1:1 orthologEVC2461676A0A2I3S1F9Pan troglodytesPredictionMore>>
1:1 orthologEvc2289711D3ZWN3Rattus norvegicusPredictionMore>>

Gene ontology

GO ID GO Term
GO:0060170 ciliary membrane
GO:0005929 cilium
GO:0016021 integral component of membrane
GO:0005634 nucleus
GO:0098797 plasma membrane protein complex
GO:0007224 smoothened signaling pathway

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0175 Coiled coil
KW-0472 Membrane
KW-1185 Reference proteome
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR022076 Limbin
IPR026501 Limbin/Ellis-van_Creveld

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF12297 EVC2_like