PANX2_HUMAN
ID PANX2_HUMAN Reviewed; 677 AA.
AC Q96RD6; B7Z684; Q96RD5; Q9UGX8;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Pannexin-2;
GN Name=PANX2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND NUCLEOTIDE SEQUENCE [MRNA] OF
RP 11-677 (ISOFORM 1).
RX PubMed=15028292; DOI=10.1016/j.ygeno.2003.09.025;
RA Baranova A., Ivanov D., Petrash N., Pestova A., Skoblov M., Kelmanson I.,
RA Shagin D., Nazarenko S., Geraymovych E., Litvin O., Tiunova A., Born T.L.,
RA Usman N., Staroverov D., Lukyanov S., Panchin Y.;
RT "The mammalian pannexin family is homologous to the invertebrate innexin
RT gap junction proteins.";
RL Genomics 83:706-716(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=10591208; DOI=10.1038/990031;
RA Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M.,
RA Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C.,
RA Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E.,
RA Bridgeman A.M., Buck D., Burgess J., Burrill W.D., Burton J., Carder C.,
RA Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G.,
RA Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V.,
RA Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M.,
RA Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A.,
RA Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C.,
RA Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E.,
RA Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F.,
RA Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M.,
RA Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A.,
RA Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D.,
RA Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y.,
RA Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S.,
RA Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E.,
RA Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L.,
RA Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L.,
RA Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N.,
RA Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A.,
RA Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L.,
RA Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P.,
RA Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P.,
RA Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q.,
RA Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J.,
RA Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J.,
RA Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D.,
RA Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T.,
RA Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P.,
RA Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K.,
RA Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R.,
RA Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L.,
RA McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J.,
RA Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E.,
RA Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P.,
RA Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y.,
RA Wright H.;
RT "The DNA sequence of human chromosome 22.";
RL Nature 402:489-495(1999).
RN [4]
RP VARIANT [LARGE SCALE ANALYSIS] PHE-147.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Structural component of the gap junctions and the
CC hemichannels. {ECO:0000250}.
CC -!- SUBUNIT: Forms PANX1/PANX2-heteromeric intercellular channels on
CC coexpression in paired Xenopus oocytes. Does not form homomeric
CC channels (By similarity). {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000255|PROSITE-ProRule:PRU00351}. Cell junction, gap
CC junction.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=3;
CC IsoId=Q96RD6-3; Sequence=Displayed;
CC Name=1;
CC IsoId=Q96RD6-1; Sequence=VSP_002677;
CC Name=2;
CC IsoId=Q96RD6-2; Sequence=VSP_039092, VSP_002677;
CC -!- SIMILARITY: Belongs to the pannexin family. {ECO:0000255|PROSITE-
CC ProRule:PRU00351}.
CC -!- WEB RESOURCE: Name=Wikipedia; Note=Pannexin entry;
CC URL="https://en.wikipedia.org/wiki/Pannexin";
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DR EMBL; AF398510; AAK91715.1; -; mRNA.
DR EMBL; AF398511; AAK91716.1; -; mRNA.
DR EMBL; AK299910; BAH13170.1; -; mRNA.
DR EMBL; AL022328; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS14085.2; -. [Q96RD6-3]
DR CCDS; CCDS54544.1; -. [Q96RD6-1]
DR RefSeq; NP_001153772.1; NM_001160300.1. [Q96RD6-1]
DR RefSeq; NP_443071.2; NM_052839.3. [Q96RD6-3]
DR AlphaFoldDB; Q96RD6; -.
DR SMR; Q96RD6; -.
DR BioGRID; 121176; 7.
DR IntAct; Q96RD6; 3.
DR STRING; 9606.ENSP00000379183; -.
DR TCDB; 1.A.25.2.2; the gap junction-forming innexin (innexin) family.
DR GlyGen; Q96RD6; 1 site.
DR iPTMnet; Q96RD6; -.
DR PhosphoSitePlus; Q96RD6; -.
DR BioMuta; PANX2; -.
DR DMDM; 296439257; -.
DR jPOST; Q96RD6; -.
DR MassIVE; Q96RD6; -.
DR MaxQB; Q96RD6; -.
DR PaxDb; Q96RD6; -.
DR PeptideAtlas; Q96RD6; -.
DR PRIDE; Q96RD6; -.
DR ProteomicsDB; 77943; -. [Q96RD6-3]
DR ProteomicsDB; 77944; -. [Q96RD6-1]
DR ProteomicsDB; 77945; -. [Q96RD6-2]
DR Antibodypedia; 14165; 186 antibodies from 29 providers.
DR DNASU; 56666; -.
DR Ensembl; ENST00000159647.9; ENSP00000159647.5; ENSG00000073150.14. [Q96RD6-1]
DR Ensembl; ENST00000395842.3; ENSP00000379183.2; ENSG00000073150.14. [Q96RD6-3]
DR GeneID; 56666; -.
DR KEGG; hsa:56666; -.
DR MANE-Select; ENST00000395842.3; ENSP00000379183.2; NM_052839.4; NP_443071.2.
DR UCSC; uc003bjn.5; human. [Q96RD6-3]
DR CTD; 56666; -.
DR DisGeNET; 56666; -.
DR GeneCards; PANX2; -.
DR HGNC; HGNC:8600; PANX2.
DR HPA; ENSG00000073150; Tissue enriched (brain).
DR MIM; 608421; gene.
DR neXtProt; NX_Q96RD6; -.
DR OpenTargets; ENSG00000073150; -.
DR PharmGKB; PA32930; -.
DR VEuPathDB; HostDB:ENSG00000073150; -.
DR eggNOG; ENOG502QT63; Eukaryota.
DR GeneTree; ENSGT00940000153972; -.
DR HOGENOM; CLU_027715_0_0_1; -.
DR InParanoid; Q96RD6; -.
DR OMA; GQQDDKA; -.
DR PhylomeDB; Q96RD6; -.
DR TreeFam; TF333142; -.
DR PathwayCommons; Q96RD6; -.
DR Reactome; R-HSA-112303; Electric Transmission Across Gap Junctions.
DR SignaLink; Q96RD6; -.
DR SIGNOR; Q96RD6; -.
DR BioGRID-ORCS; 56666; 8 hits in 1073 CRISPR screens.
DR ChiTaRS; PANX2; human.
DR GenomeRNAi; 56666; -.
DR Pharos; Q96RD6; Tbio.
DR PRO; PR:Q96RD6; -.
DR Proteomes; UP000005640; Chromosome 22.
DR RNAct; Q96RD6; protein.
DR Bgee; ENSG00000073150; Expressed in right hemisphere of cerebellum and 120 other tissues.
DR ExpressionAtlas; Q96RD6; baseline and differential.
DR Genevisible; Q96RD6; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0005921; C:gap junction; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0005198; F:structural molecule activity; ISS:UniProtKB.
DR GO; GO:0022829; F:wide pore channel activity; IBA:GO_Central.
DR GO; GO:0006812; P:cation transport; IBA:GO_Central.
DR GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
DR GO; GO:0032732; P:positive regulation of interleukin-1 production; IEA:InterPro.
DR GO; GO:0002931; P:response to ischemia; IEA:Ensembl.
DR InterPro; IPR000990; Innexin.
DR InterPro; IPR039099; Pannexin.
DR PANTHER; PTHR15759; PTHR15759; 1.
DR Pfam; PF00876; Innexin; 1.
DR PROSITE; PS51013; PANNEXIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell junction; Cell membrane; Gap junction;
KW Glycoprotein; Ion channel; Ion transport; Membrane; Phosphoprotein;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..677
FT /note="Pannexin-2"
FT /id="PRO_0000208488"
FT TOPO_DOM 11..47
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 48..70
FT /note="Helical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00351"
FT TOPO_DOM 71..123
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 124..146
FT /note="Helical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00351"
FT TOPO_DOM 147..226
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 227..249
FT /note="Helical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00351"
FT TOPO_DOM 250..292
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 293..315
FT /note="Helical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00351"
FT TOPO_DOM 316..643
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT REGION 393..423
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 454..510
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 393..407
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 593
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6IMP4"
FT CARBOHYD 86
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..134
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15028292"
FT /id="VSP_039092"
FT VAR_SEQ 632..677
FT /note="YEAREEEDGGPRLPQDVGDLIAIPAPQQILIATFDEPRTVVSTVEF -> SS
FT SPPSTSRERS (in isoform 1 and isoform 2)"
FT /evidence="ECO:0000303|PubMed:15028292"
FT /id="VSP_002677"
FT VARIANT 147
FT /note="S -> F (in a breast cancer sample; somatic mutation;
FT dbSNP:rs941735789)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036575"
SQ SEQUENCE 677 AA; 74447 MW; E15C741192B1BD46 CRC64;
MHHLLEQSAD MATALLAGEK LRELILPGAQ DDKAGALAAL LLQLKLELPF DRVVTIGTVL
VPILLVTLVF TKNFAEEPIY CYTPHNFTRD QALYARGYCW TELRDALPGV DASLWPSLFE
HKFLPYALLA FAAIMYVPAL GWEFLASTRL TSELNFLLQE IDNCYHRAAE GRAPKIEKQI
QSKGPGITER EKREIIENAE KEKSPEQNLF EKYLERRGRS NFLAKLYLAR HVLILLLSAV
PISYLCTYYA TQKQNEFTCA LGASPDGAAG AGPAVRVSCK LPSVQLQRII AGVDIVLLCV
MNLIILVNLI HLFIFRKSNF IFDKLHKVGI KTRRQWRRSQ FCDINILAMF CNENRDHIKS
LNRLDFITNE SDLMYDNVVR QLLAALAQSN HDATPTVRDS GVQTVDPSAN PAEPDGAAEP
PVVKRPRKKM KWIPTSNPLP QPFKEPLAIM RVENSKAEKP KPARRKTATD TLIAPLLDRS
AHHYKGGGGD PGPGPAPAPA PPPAPDKKHA RHFSLDVHPY ILGTKKAKAE AVPAALPASR
SQEGGFLSQA EDCGLGLAPA PIKDAPLPEK EIPYPTEPAR AGLPSGGPFH VRSPPAAPAV
APLTPASLGK AEPLTILSRN ATHPLLHINT LYEAREEEDG GPRLPQDVGD LIAIPAPQQI
LIATFDEPRT VVSTVEF
