C2C4B_HUMAN
ID C2C4B_HUMAN Reviewed; 364 AA.
AC A6NLJ0;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 1.
DT 03-AUG-2022, entry version 99.
DE RecName: Full=C2 calcium-dependent domain-containing protein 4B;
DE AltName: Full=Nuclear-localized factor 2;
DE AltName: Full=Protein FAM148B;
GN Name=C2CD4B; Synonyms=FAM148B, NLF2;
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 GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [2]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INDUCTION.
RX PubMed=15527968; DOI=10.1016/j.gene.2004.07.027;
RA Warton K., Foster N.C., Gold W.A., Stanley K.K.;
RT "A novel gene family induced by acute inflammation in endothelial cells.";
RL Gene 342:85-95(2004).
CC -!- FUNCTION: May be involved in inflammatory process. May regulate cell
CC architecture and adhesion. {ECO:0000269|PubMed:15527968}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15527968}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in endothelial cells.
CC {ECO:0000269|PubMed:15527968}.
CC -!- INDUCTION: Up-regulated by pro-inflammatory cytokines.
CC {ECO:0000269|PubMed:15527968}.
CC -!- SIMILARITY: Belongs to the C2CD4 family. {ECO:0000305}.
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DR EMBL; AC126323; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS32259.1; -.
DR RefSeq; NP_001007596.2; NM_001007595.2.
DR RefSeq; XP_016877659.1; XM_017022170.1.
DR AlphaFoldDB; A6NLJ0; -.
DR SMR; A6NLJ0; -.
DR BioGRID; 132563; 73.
DR STRING; 9606.ENSP00000369755; -.
DR iPTMnet; A6NLJ0; -.
DR PhosphoSitePlus; A6NLJ0; -.
DR BioMuta; C2CD4B; -.
DR MassIVE; A6NLJ0; -.
DR PaxDb; A6NLJ0; -.
DR PeptideAtlas; A6NLJ0; -.
DR PRIDE; A6NLJ0; -.
DR ProteomicsDB; 1481; -.
DR Antibodypedia; 50977; 9 antibodies from 6 providers.
DR DNASU; 388125; -.
DR Ensembl; ENST00000380392.4; ENSP00000369755.3; ENSG00000205502.4.
DR GeneID; 388125; -.
DR KEGG; hsa:388125; -.
DR MANE-Select; ENST00000380392.4; ENSP00000369755.3; NM_001007595.3; NP_001007596.2.
DR UCSC; uc002ahg.3; human.
DR CTD; 388125; -.
DR DisGeNET; 388125; -.
DR GeneCards; C2CD4B; -.
DR HGNC; HGNC:33628; C2CD4B.
DR HPA; ENSG00000205502; Tissue enriched (pancreas).
DR MIM; 610344; gene.
DR neXtProt; NX_A6NLJ0; -.
DR OpenTargets; ENSG00000205502; -.
DR PharmGKB; PA165478519; -.
DR VEuPathDB; HostDB:ENSG00000205502; -.
DR eggNOG; ENOG502S04T; Eukaryota.
DR GeneTree; ENSGT00940000163765; -.
DR HOGENOM; CLU_051964_0_0_1; -.
DR InParanoid; A6NLJ0; -.
DR OMA; RAYGGGC; -.
DR OrthoDB; 1439066at2759; -.
DR PhylomeDB; A6NLJ0; -.
DR TreeFam; TF330989; -.
DR PathwayCommons; A6NLJ0; -.
DR SignaLink; A6NLJ0; -.
DR BioGRID-ORCS; 388125; 8 hits in 1071 CRISPR screens.
DR ChiTaRS; C2CD4B; human.
DR GenomeRNAi; 388125; -.
DR Pharos; A6NLJ0; Tbio.
DR PRO; PR:A6NLJ0; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; A6NLJ0; protein.
DR Bgee; ENSG00000205502; Expressed in body of pancreas and 120 other tissues.
DR Genevisible; A6NLJ0; HS.
DR GO; GO:0005634; C:nucleus; NAS:UniProtKB.
DR GO; GO:0002675; P:positive regulation of acute inflammatory response; IDA:UniProtKB.
DR GO; GO:0030155; P:regulation of cell adhesion; IDA:UniProtKB.
DR GO; GO:0002528; P:regulation of vascular permeability involved in acute inflammatory response; IDA:UniProtKB.
DR Gene3D; 2.60.40.150; -; 1.
DR InterPro; IPR039208; C2_Ca-dependent_4.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR PANTHER; PTHR47226; PTHR47226; 1.
DR SUPFAM; SSF49562; SSF49562; 1.
DR PROSITE; PS50004; C2; 1.
PE 2: Evidence at transcript level;
KW Nucleus; Reference proteome.
FT CHAIN 1..364
FT /note="C2 calcium-dependent domain-containing protein 4B"
FT /id="PRO_0000324306"
FT DOMAIN 248..364
FT /note="C2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 113..166
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 194..234
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 201..216
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 276
FT /note="F -> V (in dbSNP:rs8040712)"
FT /id="VAR_039696"
FT VARIANT 346
FT /note="D -> E (in dbSNP:rs1055090)"
FT /id="VAR_039697"
SQ SEQUENCE 364 AA; 38769 MW; 29D4515216354997 CRC64;
MRLLEKLCSS AAGSSAPKPA FAKVLTPNRI PEFCIPPRLP APCTLESPIR AAAVPRRCAA
ESDLWPRAAD EDAGRTDWDP RSQAALSLPH LPRVRTTYGF CALLESPHTR RKESLLLGGP
PAPRPRAHSC GGGGGPDAPL GTLCGPRGPG PATPAAPGGP RLPQDALAAG PRRCRLLRVP
DGLLSRALRA GRSRRLARVR SVSSGNEDEE RRAGSESPAR APSSSPLSSR APLPERLEAK
GTVALGRAGD ALRLAAEYCP GTRRLRLRLL RAESLFGGAP GPRAVRCRLS LVLRPPGTAR
WQCSAVVGRS RKASFDQDFC FDGLSEDEVR RLAVRVKARD EGRGRDRGRL LGQGELSLGA
LLLL
