CNBD2_HUMAN
ID CNBD2_HUMAN Reviewed; 576 AA.
AC Q96M20; Q14C79; Q5JWY7; Q5T3S1; Q9BR36; Q9BWY5;
DT 15-NOV-2002, integrated into UniProtKB/Swiss-Prot.
DT 15-NOV-2002, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Cyclic nucleotide-binding domain-containing protein 2;
GN Name=CNBD2; Synonyms=C20orf152;
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 [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT SER-375.
RC TISSUE=Testis;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Essential for male fertility. Plays an important role in
CC spermatogenesis and regulates sperm motility by controlling the
CC development of the flagellar bending of sperm.
CC {ECO:0000250|UniProtKB:Q9D5U8}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol
CC {ECO:0000250|UniProtKB:Q9D5U8}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96M20-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96M20-2; Sequence=VSP_039149;
CC Name=3;
CC IsoId=Q96M20-3; Sequence=VSP_043858;
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DR EMBL; AK057454; BAB71494.1; -; mRNA.
DR EMBL; AL109965; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL359828; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW76149.1; -; Genomic_DNA.
DR EMBL; BC114945; AAI14946.1; -; mRNA.
DR CCDS; CCDS13270.1; -. [Q96M20-2]
DR CCDS; CCDS56189.1; -. [Q96M20-3]
DR RefSeq; NP_001194005.1; NM_001207076.2. [Q96M20-3]
DR RefSeq; NP_543024.2; NM_080834.3. [Q96M20-2]
DR RefSeq; XP_005260352.1; XM_005260295.2.
DR AlphaFoldDB; Q96M20; -.
DR SMR; Q96M20; -.
DR STRING; 9606.ENSP00000340954; -.
DR iPTMnet; Q96M20; -.
DR PhosphoSitePlus; Q96M20; -.
DR BioMuta; CNBD2; -.
DR DMDM; 25089999; -.
DR MassIVE; Q96M20; -.
DR PaxDb; Q96M20; -.
DR PeptideAtlas; Q96M20; -.
DR PRIDE; Q96M20; -.
DR ProteomicsDB; 77281; -. [Q96M20-1]
DR ProteomicsDB; 77282; -. [Q96M20-2]
DR Antibodypedia; 51163; 52 antibodies from 14 providers.
DR DNASU; 140894; -.
DR Ensembl; ENST00000349339.5; ENSP00000340954.1; ENSG00000149646.12. [Q96M20-2]
DR Ensembl; ENST00000373973.7; ENSP00000363084.3; ENSG00000149646.12. [Q96M20-1]
DR Ensembl; ENST00000538900.1; ENSP00000442729.1; ENSG00000149646.12. [Q96M20-3]
DR GeneID; 140894; -.
DR KEGG; hsa:140894; -.
DR MANE-Select; ENST00000373973.7; ENSP00000363084.3; NM_001365709.1; NP_001352638.1.
DR UCSC; uc002xer.1; human. [Q96M20-1]
DR CTD; 140894; -.
DR DisGeNET; 140894; -.
DR GeneCards; CNBD2; -.
DR HGNC; HGNC:16145; CNBD2.
DR HPA; ENSG00000149646; Tissue enhanced (testis).
DR neXtProt; NX_Q96M20; -.
DR OpenTargets; ENSG00000149646; -.
DR PharmGKB; PA25694; -.
DR VEuPathDB; HostDB:ENSG00000149646; -.
DR eggNOG; KOG1113; Eukaryota.
DR GeneTree; ENSGT00390000003964; -.
DR HOGENOM; CLU_033437_0_0_1; -.
DR InParanoid; Q96M20; -.
DR OMA; IMMIRVC; -.
DR OrthoDB; 1253607at2759; -.
DR PhylomeDB; Q96M20; -.
DR TreeFam; TF326269; -.
DR PathwayCommons; Q96M20; -.
DR BioGRID-ORCS; 140894; 15 hits in 1061 CRISPR screens.
DR ChiTaRS; CNBD2; human.
DR GenomeRNAi; 140894; -.
DR Pharos; Q96M20; Tdark.
DR PRO; PR:Q96M20; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q96M20; protein.
DR Bgee; ENSG00000149646; Expressed in sperm and 119 other tissues.
DR ExpressionAtlas; Q96M20; baseline and differential.
DR Genevisible; Q96M20; HS.
DR GO; GO:0005829; C:cytosol; IEA:UniProtKB-SubCell.
DR GO; GO:0030552; F:cAMP binding; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IBA:GO_Central.
DR CDD; cd00038; CAP_ED; 1.
DR Gene3D; 2.60.120.10; -; 2.
DR InterPro; IPR043533; CNBD1/2.
DR InterPro; IPR038897; CNBD2.
DR InterPro; IPR018490; cNMP-bd-like.
DR InterPro; IPR018488; cNMP-bd_CS.
DR InterPro; IPR000595; cNMP-bd_dom.
DR InterPro; IPR014710; RmlC-like_jellyroll.
DR PANTHER; PTHR23011; PTHR23011; 1.
DR PANTHER; PTHR23011:SF35; PTHR23011:SF35; 1.
DR Pfam; PF00027; cNMP_binding; 1.
DR SMART; SM00100; cNMP; 1.
DR SUPFAM; SSF51206; SSF51206; 2.
DR PROSITE; PS00888; CNMP_BINDING_1; 1.
DR PROSITE; PS50042; CNMP_BINDING_3; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; cAMP; cAMP-binding; Cytoplasm; Nucleotide-binding;
KW Reference proteome.
FT CHAIN 1..576
FT /note="Cyclic nucleotide-binding domain-containing protein
FT 2"
FT /id="PRO_0000079471"
FT BINDING 116..239
FT /ligand="a nucleoside 3',5'-cyclic phosphate"
FT /ligand_id="ChEBI:CHEBI:58464"
FT VAR_SEQ 424..576
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_043858"
FT VAR_SEQ 424..427
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039149"
FT VARIANT 37
FT /note="R -> H (in dbSNP:rs17347958)"
FT /id="VAR_056853"
FT VARIANT 208
FT /note="T -> A (in dbSNP:rs6142471)"
FT /id="VAR_056854"
FT VARIANT 375
FT /note="P -> S (in dbSNP:rs6060750)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_056855"
SQ SEQUENCE 576 AA; 67512 MW; B38592A8233A9354 CRC64;
MRRHMVTYAW QLLKKELGLY QLAMDIIIMI RVCKMFRQGL RGFREYQIIE TAHWKHPIFS
FWDKKMQSRV TFDTMDFIAE EGHFPPKAIQ IMQKKPSWRT EDEIQAVCNI LQVLDSYRNY
AEPLQLLLAK VMRFERFGRR RVIIKKGQKG NSFYFIYLGT VAITKDEDGS SAFLDPHPKL
LHKGSCFGEM DVLHASVRRS TIVCMEETEF LVVDREDFFA NKLDQEVQKD AQYRFEFFRK
MELFASWSDE KLWQLVAMAK IERFSYGQLI SKDFGESPFI MFISKGSCEV LRLLDLGASP
SYRRWIWQHL ELIDGRPLKT HLSEYSPMER FKEFQIKSYP LQDFSSLKLP HLKKAWGLQG
TSFSRKIRTS GDTLPKMLGP KIQSRPAQSI KCAMINIKPG ELPKEAAVGA YVKVHTVEQG
EILGLHQAFL PEGECDTRPL ILMSLGNELI RIRKEIFYEL IDNDDEMIKK LLKLNIAFPS
DEDMCQKFLQ QNSWNIFRKD LLQLLVEPCQ SQLFTPNRPK KREIYNPKSV VLDLCSINKT
TKPRYPIFMA PQKYLPPLRI VQAIKAPRYK IRELLA
