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Adhesion G-protein coupled receptor G2 (G-protein coupled receptor 64) (Human epididymis-specific protein 6) (He6)

 AGRG2_HUMAN             Reviewed;        1017 AA.
Q8IZP9; B1AWB3; B1AWB4; B1AWB6; B1AWB7; O00406; Q14CE0; Q8IWT2;
Q8IZE4; Q8IZE5; Q8IZE6; Q8IZE7; Q8IZP3; Q8IZP4;
29-MAR-2004, integrated into UniProtKB/Swiss-Prot.
05-MAY-2009, sequence version 2.
16-JAN-2019, entry version 142.
RecName: Full=Adhesion G-protein coupled receptor G2 {ECO:0000303|PubMed:25713288};
AltName: Full=G-protein coupled receptor 64;
AltName: Full=Human epididymis-specific protein 6;
Short=He6;
Flags: Precursor;
Name=ADGRG2 {ECO:0000312|HGNC:HGNC:4516};
Synonyms=GPR64 {ECO:0000303|PubMed:28397838}, HE6, TM7LN2;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND TISSUE SPECIFICITY.
TISSUE=Epididymis;
PubMed=9150425; DOI=10.1089/dna.1997.16.379;
Osterhoff C., Ivell R., Kirchhoff C.;
"Cloning of a human epididymis-specific mRNA, HE6, encoding a novel
member of the seven transmembrane-domain receptor superfamily.";
DNA Cell Biol. 16:379-389(1997).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3; 4; 5; 6; 7; 8 AND 9),
TISSUE SPECIFICITY, GLYCOSYLATION, AND SUBCELLULAR LOCATION.
TISSUE=Epididymis;
PubMed=12420295; DOI=10.1002/mrd.10220;
Obermann H., Samalecos A., Osterhoff C., Schroeder B., Heller R.,
Kirchhoff C.;
"HE6, a two-subunit heptahelical receptor associated with apical
membranes of efferent and epididymal duct epithelia.";
Mol. Reprod. Dev. 64:13-26(2003).
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 10).
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=18669648; DOI=10.1073/pnas.0805139105;
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
Elledge S.J., Gygi S.P.;
"A quantitative atlas of mitotic phosphorylation.";
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
[6]
TISSUE SPECIFICITY.
PubMed=18469038; DOI=10.1530/REP-08-0078;
Kirchhoff C., Osterhoff C., Samalecos A.;
"HE6/GPR64 adhesion receptor co-localizes with apical and subapical F-
actin scaffold in male excurrent duct epithelia.";
Reproduction 136:235-245(2008).
[7]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1010, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=20068231; DOI=10.1126/scisignal.2000475;
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
Mann M.;
"Quantitative phosphoproteomics reveals widespread full
phosphorylation site occupancy during mitosis.";
Sci. Signal. 3:RA3-RA3(2010).
[8]
TISSUE SPECIFICITY.
PubMed=23338946; DOI=10.1002/path.4170;
Richter G.H., Fasan A., Hauer K., Grunewald T.G., Berns C.,
Rossler S., Naumann I., Staege M.S., Fulda S., Esposito I.,
Burdach S.;
"G-Protein coupled receptor 64 promotes invasiveness and metastasis in
Ewing sarcomas through PGF and MMP1.";
J. Pathol. 230:70-81(2013).
[9]
PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1010, AND IDENTIFICATION
BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Cervix carcinoma;
PubMed=23186163; DOI=10.1021/pr300630k;
Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
Mohammed S.;
"Toward a comprehensive characterization of a human cancer cell
phosphoproteome.";
J. Proteome Res. 12:260-271(2013).
[10]
NOMENCLATURE.
PubMed=25713288; DOI=10.1124/pr.114.009647;
Hamann J., Aust G., Arac D., Engel F.B., Formstone C., Fredriksson R.,
Hall R.A., Harty B.L., Kirchhoff C., Knapp B., Krishnan A.,
Liebscher I., Lin H.H., Martinelli D.C., Monk K.R., Peeters M.C.,
Piao X., Promel S., Schoneberg T., Schwartz T.W., Singer K.,
Stacey M., Ushkaryov Y.A., Vallon M., Wolfrum U., Wright M.W., Xu L.,
Langenhan T., Schioth H.B.;
"International union of basic and clinical pharmacology. XCIV.
Adhesion G protein-coupled receptors.";
Pharmacol. Rev. 67:338-367(2015).
[11]
INVOLVEMENT IN CBAVDX, AND TISSUE SPECIFICITY.
PubMed=27476656; DOI=10.1016/j.ajhg.2016.06.012;
Patat O., Pagin A., Siegfried A., Mitchell V., Chassaing N.,
Faguer S., Monteil L., Gaston V., Bujan L., Courtade-Saidi M.,
Marcelli F., Lalau G., Rigot J.M., Mieusset R., Bieth E.;
"Truncating mutations in the adhesion G protein-coupled receptor G2
gene ADGRG2 cause an X-Linked congenital bilateral absence of vas
deferens.";
Am. J. Hum. Genet. 99:437-442(2016).
[12]
VARIANT SER-224.
PubMed=23092983; DOI=10.1038/tp.2012.102;
Nava C., Lamari F., Heron D., Mignot C., Rastetter A., Keren B.,
Cohen D., Faudet A., Bouteiller D., Gilleron M., Jacquette A.,
Whalen S., Afenjar A., Perisse D., Laurent C., Dupuits C., Gautier C.,
Gerard M., Huguet G., Caillet S., Leheup B., Leboyer M., Gillberg C.,
Delorme R., Bourgeron T., Brice A., Depienne C.;
"Analysis of the chromosome X exome in patients with autism spectrum
disorders identified novel candidate genes, including TMLHE.";
Transl. Psychiatry 2:E179-E179(2012).
[13]
VARIANT SER-64.
PubMed=28397838; DOI=10.1038/mp.2017.60;
Harripaul R., Vasli N., Mikhailov A., Rafiq M.A., Mittal K.,
Windpassinger C., Sheikh T.I., Noor A., Mahmood H., Downey S.,
Johnson M., Vleuten K., Bell L., Ilyas M., Khan F.S., Khan V.,
Moradi M., Ayaz M., Naeem F., Heidari A., Ahmed I., Ghadami S.,
Agha Z., Zeinali S., Qamar R., Mozhdehipanah H., John P., Mir A.,
Ansar M., French L., Ayub M., Vincent J.B.;
"Mapping autosomal recessive intellectual disability: combined
microarray and exome sequencing identifies 26 novel candidate genes in
192 consanguineous families.";
Mol. Psychiatry 23:973-984(2018).
-!- FUNCTION: Orphan receptor. Could be involved in a signal
transduction pathway controlling epididymal function and male
fertility. May regulate fluid exchange within epididymis.
{ECO:0000250|UniProtKB:Q8CJ12}.
-!- SUBUNIT: Heterodimer of 2 chains generated by proteolytic
processing; the large extracellular N-terminal fragment and the
membrane-bound C-terminal fragment predominantly remain associated
and non-covalently linked. {ECO:0000305}.
-!- SUBCELLULAR LOCATION: Apical cell membrane
{ECO:0000269|PubMed:12420295}; Multi-pass membrane protein
{ECO:0000255}.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=10;
Name=1; Synonyms=Long splice variant;
IsoId=Q8IZP9-1; Sequence=Displayed;
Name=2;
IsoId=Q8IZP9-2; Sequence=VSP_009791;
Name=3; Synonyms=d1;
IsoId=Q8IZP9-3; Sequence=VSP_009792;
Name=4; Synonyms=24;
IsoId=Q8IZP9-4; Sequence=VSP_009793;
Name=5; Synonyms=23;
IsoId=Q8IZP9-5; Sequence=VSP_009794;
Name=6; Synonyms=d3;
IsoId=Q8IZP9-6; Sequence=VSP_009795;
Name=7; Synonyms=d2;
IsoId=Q8IZP9-7; Sequence=VSP_009796;
Name=8; Synonyms=21;
IsoId=Q8IZP9-8; Sequence=VSP_009797;
Name=9; Synonyms=Delta exon 28;
IsoId=Q8IZP9-9; Sequence=VSP_009798;
Name=10;
IsoId=Q8IZP9-10; Sequence=VSP_009792, VSP_009793, VSP_054522;
Note=No experimental confirmation available.;
-!- TISSUE SPECIFICITY: Epididymis-specific expression (at protein
level). Both subunits are associated with apical membranes of
efferent ductule and proximal epididymal duct epithelia. Mainly
expressed in the nonciliated principal cells of the proximal
excurrent ducts. Specifically over-expressed in Ewing sarcomas but
also up-regulated in a number of carcinomas derived from prostate,
kidney or lung. {ECO:0000269|PubMed:12420295,
ECO:0000269|PubMed:18469038, ECO:0000269|PubMed:23338946,
ECO:0000269|PubMed:27476656, ECO:0000269|PubMed:9150425}.
-!- PTM: Proteolytically cleaved into 2 subunits, an extracellular
subunit and a seven-transmembrane subunit. {ECO:0000305}.
-!- PTM: Highly glycosylated. {ECO:0000269|PubMed:12420295}.
-!- DISEASE: Congenital bilateral aplasia of the vas deferens, X-
linked (CBAVDX) [MIM:300985]: A disease characterized by bilateral
absence of vas deferens, obstructive azoospermia, and infertility.
{ECO:0000269|PubMed:27476656}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the G-protein coupled receptor 2 family.
Adhesion G-protein coupled receptor (ADGR) subfamily.
{ECO:0000305}.
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EMBL; X81892; CAA57479.1; -; mRNA.
EMBL; AF538954; AAN33056.1; -; mRNA.
EMBL; AF539455; AAN33064.1; -; mRNA.
EMBL; AF539456; AAN33065.1; -; mRNA.
EMBL; AY143364; AAN38971.1; -; mRNA.
EMBL; AY143365; AAN38972.1; -; mRNA.
EMBL; AY143366; AAN38973.1; -; mRNA.
EMBL; AY143367; AAN38974.1; -; mRNA.
EMBL; AY148343; AAN75702.1; -; mRNA.
EMBL; AL732509; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; AL732578; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC113979; AAI13980.1; -; mRNA.
CCDS; CCDS14191.1; -. [Q8IZP9-2]
CCDS; CCDS43921.1; -. [Q8IZP9-6]
CCDS; CCDS43922.1; -. [Q8IZP9-4]
CCDS; CCDS43923.1; -. [Q8IZP9-1]
CCDS; CCDS55376.1; -. [Q8IZP9-5]
CCDS; CCDS55377.1; -. [Q8IZP9-7]
CCDS; CCDS55378.1; -. [Q8IZP9-3]
CCDS; CCDS55379.1; -. [Q8IZP9-9]
RefSeq; NP_001073327.1; NM_001079858.2. [Q8IZP9-1]
RefSeq; NP_001073328.1; NM_001079859.2. [Q8IZP9-4]
RefSeq; NP_001073329.1; NM_001079860.2. [Q8IZP9-6]
RefSeq; NP_001171762.1; NM_001184833.1. [Q8IZP9-3]
RefSeq; NP_001171763.1; NM_001184834.1. [Q8IZP9-9]
RefSeq; NP_001171764.1; NM_001184835.1. [Q8IZP9-8]
RefSeq; NP_001171765.1; NM_001184836.1. [Q8IZP9-5]
RefSeq; NP_001171766.1; NM_001184837.1. [Q8IZP9-7]
RefSeq; NP_005747.2; NM_005756.3. [Q8IZP9-2]
RefSeq; XP_006724518.1; XM_006724455.3. [Q8IZP9-1]
RefSeq; XP_011543736.1; XM_011545434.1. [Q8IZP9-1]
RefSeq; XP_011543737.1; XM_011545435.2. [Q8IZP9-1]
UniGene; Hs.146978; -.
ProteinModelPortal; Q8IZP9; -.
BioGrid; 115451; 11.
IntAct; Q8IZP9; 1.
STRING; 9606.ENSP00000369198; -.
MEROPS; P02.007; -.
iPTMnet; Q8IZP9; -.
PhosphoSitePlus; Q8IZP9; -.
BioMuta; ADGRG2; -.
DMDM; 229462874; -.
jPOST; Q8IZP9; -.
MaxQB; Q8IZP9; -.
PaxDb; Q8IZP9; -.
PeptideAtlas; Q8IZP9; -.
PRIDE; Q8IZP9; -.
ProteomicsDB; 71395; -.
ProteomicsDB; 71396; -. [Q8IZP9-2]
ProteomicsDB; 71397; -. [Q8IZP9-3]
ProteomicsDB; 71398; -. [Q8IZP9-4]
ProteomicsDB; 71399; -. [Q8IZP9-5]
ProteomicsDB; 71400; -. [Q8IZP9-6]
ProteomicsDB; 71401; -. [Q8IZP9-7]
ProteomicsDB; 71402; -. [Q8IZP9-8]
ProteomicsDB; 71403; -. [Q8IZP9-9]
Ensembl; ENST00000340581; ENSP00000344972; ENSG00000173698. [Q8IZP9-10]
Ensembl; ENST00000354791; ENSP00000346845; ENSG00000173698. [Q8IZP9-10]
Ensembl; ENST00000356606; ENSP00000349015; ENSG00000173698. [Q8IZP9-4]
Ensembl; ENST00000357544; ENSP00000350152; ENSG00000173698. [Q8IZP9-7]
Ensembl; ENST00000357991; ENSP00000350680; ENSG00000173698. [Q8IZP9-2]
Ensembl; ENST00000360279; ENSP00000353421; ENSG00000173698. [Q8IZP9-6]
Ensembl; ENST00000379869; ENSP00000369198; ENSG00000173698. [Q8IZP9-1]
Ensembl; ENST00000379873; ENSP00000369202; ENSG00000173698. [Q8IZP9-9]
Ensembl; ENST00000379876; ENSP00000369205; ENSG00000173698. [Q8IZP9-5]
Ensembl; ENST00000379878; ENSP00000369207; ENSG00000173698. [Q8IZP9-3]
GeneID; 10149; -.
KEGG; hsa:10149; -.
UCSC; uc004cyx.4; human. [Q8IZP9-1]
CTD; 10149; -.
DisGeNET; 10149; -.
EuPathDB; HostDB:ENSG00000173698.17; -.
GeneCards; ADGRG2; -.
H-InvDB; HIX0016685; -.
HGNC; HGNC:4516; ADGRG2.
HPA; HPA001478; -.
HPA; HPA050029; -.
MalaCards; ADGRG2; -.
MIM; 300572; gene.
MIM; 300985; phenotype.
neXtProt; NX_Q8IZP9; -.
OpenTargets; ENSG00000173698; -.
Orphanet; 48; Congenital bilateral absence of vas deferens.
PharmGKB; PA28908; -.
eggNOG; KOG4193; Eukaryota.
eggNOG; ENOG410XSD2; LUCA.
GeneTree; ENSGT00940000156341; -.
HOGENOM; HOG000231476; -.
HOVERGEN; HBG051817; -.
InParanoid; Q8IZP9; -.
KO; K08451; -.
OMA; VCLHDFS; -.
OrthoDB; 148879at2759; -.
PhylomeDB; Q8IZP9; -.
TreeFam; TF321769; -.
GeneWiki; GPR64; -.
GenomeRNAi; 10149; -.
PRO; PR:Q8IZP9; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000173698; Expressed in 135 organ(s), highest expression level in caput epididymis.
Genevisible; Q8IZP9; HS.
GO; GO:0016324; C:apical plasma membrane; ISS:UniProtKB.
GO; GO:0009986; C:cell surface; HDA:UniProtKB.
GO; GO:0005829; C:cytosol; IDA:HPA.
GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
GO; GO:0016021; C:integral component of membrane; TAS:GDB.
GO; GO:0005887; C:integral component of plasma membrane; IBA:GO_Central.
GO; GO:0005886; C:plasma membrane; IDA:HPA.
GO; GO:0004930; F:G protein-coupled receptor activity; IBA:GO_Central.
GO; GO:0007189; P:adenylate cyclase-activating G protein-coupled receptor signaling pathway; IBA:GO_Central.
GO; GO:0007166; P:cell surface receptor signaling pathway; IEA:InterPro.
GO; GO:0007186; P:G protein-coupled receptor signaling pathway; TAS:ProtInc.
GO; GO:0007283; P:spermatogenesis; TAS:ProtInc.
InterPro; IPR017981; GPCR_2-like.
InterPro; IPR000832; GPCR_2_secretin-like.
InterPro; IPR017983; GPCR_2_secretin-like_CS.
InterPro; IPR000203; GPS.
Pfam; PF00002; 7tm_2; 1.
Pfam; PF01825; GPS; 1.
PRINTS; PR00249; GPCRSECRETIN.
SMART; SM00303; GPS; 1.
PROSITE; PS00650; G_PROTEIN_RECEP_F2_2; 1.
PROSITE; PS50261; G_PROTEIN_RECEP_F2_4; 1.
PROSITE; PS50221; GPS; 1.
1: Evidence at protein level;
Alternative splicing; Cell membrane; Complete proteome;
G-protein coupled receptor; Glycoprotein; Membrane; Phosphoprotein;
Polymorphism; Receptor; Reference proteome; Signal; Transducer;
Transmembrane; Transmembrane helix.
SIGNAL 1 37 {ECO:0000255}.
CHAIN 38 1017 Adhesion G-protein coupled receptor G2.
/FTId=PRO_0000012886.
TOPO_DOM 38 627 Extracellular. {ECO:0000305}.
TRANSMEM 628 648 Helical; Name=1. {ECO:0000255}.
TOPO_DOM 649 667 Cytoplasmic. {ECO:0000305}.
TRANSMEM 668 688 Helical; Name=2. {ECO:0000255}.
TOPO_DOM 689 693 Extracellular. {ECO:0000305}.
TRANSMEM 694 714 Helical; Name=3. {ECO:0000255}.
TOPO_DOM 715 737 Cytoplasmic. {ECO:0000305}.
TRANSMEM 738 758 Helical; Name=4. {ECO:0000255}.
TOPO_DOM 759 789 Extracellular. {ECO:0000305}.
TRANSMEM 790 810 Helical; Name=5. {ECO:0000255}.
TOPO_DOM 811 834 Cytoplasmic. {ECO:0000305}.
TRANSMEM 835 855 Helical; Name=6. {ECO:0000255}.
TOPO_DOM 856 857 Extracellular. {ECO:0000305}.
TRANSMEM 858 878 Helical; Name=7. {ECO:0000255}.
TOPO_DOM 879 1017 Cytoplasmic. {ECO:0000305}.
DOMAIN 567 618 GPS. {ECO:0000255|PROSITE-
ProRule:PRU00098}.
COMPBIAS 672 677 Poly-Leu.
COMPBIAS 816 819 Poly-Lys.
COMPBIAS 925 930 Poly-Ser.
MOD_RES 1010 1010 Phosphoserine.
{ECO:0000244|PubMed:20068231,
ECO:0000244|PubMed:23186163}.
CARBOHYD 44 44 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 85 85 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 99 99 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 111 111 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 117 117 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 144 144 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 162 162 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 186 186 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 194 194 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 357 357 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 370 370 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 435 435 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 438 438 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 456 456 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 461 461 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 528 528 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 542 542 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 547 547 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 551 551 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 597 597 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
CARBOHYD 857 857 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VAR_SEQ 51 66 Missing (in isoform 3 and isoform 10).
{ECO:0000303|PubMed:12420295,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_009792.
VAR_SEQ 52 101 AKLSVVSFAPSSNGTPEVETTSLNDVTLSLLPSNETEKTKI
TIVKTFNAS -> EVETTSLNDVTLSLLPSNET (in
isoform 7).
{ECO:0000303|PubMed:12420295}.
/FTId=VSP_009796.
VAR_SEQ 52 101 AKLSVVSFAPSSNGTPEVETTSLNDVTLSLLPSNETEKTKI
TIVKTFNAS -> DVTLSLLPSNET (in isoform 8).
{ECO:0000303|PubMed:12420295}.
/FTId=VSP_009797.
VAR_SEQ 52 75 Missing (in isoform 5).
{ECO:0000303|PubMed:12420295}.
/FTId=VSP_009794.
VAR_SEQ 65 67 Missing (in isoform 2).
{ECO:0000303|PubMed:9150425}.
/FTId=VSP_009791.
VAR_SEQ 68 101 EVETTSLNDVTLSLLPSNETEKTKITIVKTFNAS -> DVT
LSLLPSNET (in isoform 6).
{ECO:0000303|PubMed:12420295}.
/FTId=VSP_009795.
VAR_SEQ 88 101 Missing (in isoform 4 and isoform 10).
{ECO:0000303|PubMed:12420295,
ECO:0000303|PubMed:15489334}.
/FTId=VSP_009793.
VAR_SEQ 474 562 Missing (in isoform 10).
{ECO:0000303|PubMed:15489334}.
/FTId=VSP_054522.
VAR_SEQ 906 956 Missing (in isoform 9).
{ECO:0000303|PubMed:12420295}.
/FTId=VSP_009798.
VARIANT 64 64 N -> S (found in a family with
intellectual disability; unknown
pathological significance;
dbSNP:rs746638813).
{ECO:0000269|PubMed:28397838}.
/FTId=VAR_080773.
VARIANT 224 224 P -> S (in dbSNP:rs140334931).
{ECO:0000269|PubMed:23092983}.
/FTId=VAR_076259.
VARIANT 290 290 H -> Q (in dbSNP:rs35974297).
/FTId=VAR_055289.
VARIANT 771 771 N -> S (in dbSNP:rs3924227).
/FTId=VAR_055290.
CONFLICT 202 202 V -> A (in Ref. 1; CAA57479 and 2;
AAN33056/AAN33064/AAN33065/AAN38971/
AAN38972/AAN38973/AAN38974/AAN75702).
{ECO:0000305}.
CONFLICT 233 233 E -> G (in Ref. 1; CAA57479 and 2;
AAN33056/AAN33064/AAN33065/AAN38971/
AAN38972/AAN38973/AAN38974/AAN75702).
{ECO:0000305}.
SEQUENCE 1017 AA; 111593 MW; 2E0839DB45B6C553 CRC64;
MVFSVRQCGH VGRTEEVLLT FKIFLVIICL HVVLVTSLEE DTDNSSLSPP PAKLSVVSFA
PSSNGTPEVE TTSLNDVTLS LLPSNETEKT KITIVKTFNA SGVKPQRNIC NLSSICNDSA
FFRGEIMFQY DKESTVPQNQ HITNGTLTGV LSLSELKRSE LNKTLQTLSE TYFIMCATAE
AQSTLNCTFT IKLNNTMNAC AVIAALERVK IRPMEHCCCS VRIPCPSSPE ELEKLQCDLQ
DPIVCLADHP RGPPFSSSQS IPVVPRATVL SQVPKATSFA EPPDYSPVTH NVPSPIGEIQ
PLSPQPSAPI ASSPAIDMPP QSETISSPMP QTHVSGTPPP VKASFSSPTV SAPANVNTTS
APPVQTDIVN TSSISDLENQ VLQMEKALSL GSLEPNLAGE MINQVSRLLH SPPDMLAPLA
QRLLKVVDDI GLQLNFSNTT ISLTSPSLAL AVIRVNASSF NTTTFVAQDP ANLQVSLETQ
APENSIGTIT LPSSLMNNLP AHDMELASRV QFNFFETPAL FQDPSLENLS LISYVISSSV
ANLTVRNLTR NVTVTLKHIN PSQDELTVRC VFWDLGRNGG RGGWSDNGCS VKDRRLNETI
CTCSHLTSFG VLLDLSRTSV LPAQMMALTF ITYIGCGLSS IFLSVTLVTY IAFEKIRRDY
PSKILIQLCA ALLLLNLVFL LDSWIALYKM QGLCISVAVF LHYFLLVSFT WMGLEAFHMY
LALVKVFNTY IRKYILKFCI VGWGVPAVVV TIILTISPDN YGLGSYGKFP NGSPDDFCWI
NNNAVFYITV VGYFCVIFLL NVSMFIVVLV QLCRIKKKKQ LGAQRKTSIQ DLRSIAGLTF
LLGITWGFAF FAWGPVNVTF MYLFAIFNTL QGFFIFIFYC VAKENVRKQW RRYLCCGKLR
LAENSDWSKT ATNGLKKQTV NQGVSSSSNS LQSSSNSTNS TTLLVNNDCS VHASGNGNAS
TERNGVSFSV QNGDVCLHDF TGKQHMFNEK EDSCNGKGRM ALRRTSKRGS LHFIEQM


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