ID IDD_HUMAN Reviewed; 550 AA. AC P98153; A6NIB5; A8K6K5; B5TY34; B7Z935; DT 01-OCT-1996, integrated into UniProtKB/Swiss-Prot. DT 01-OCT-1996, sequence version 1. DT 27-MAR-2024, entry version 193. DE RecName: Full=Integral membrane protein DGCR2/IDD; DE Flags: Precursor; GN Name=DGCR2; Synonyms=IDD, KIAA0163; 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 1). RC TISSUE=Fetal brain; RX PubMed=7633403; DOI=10.1093/hmg/4.4.551; RA Demczuk S., Aledo R., Zucman J., Delattre O., Desmaze C., Dauphinot L., RA Jalbert P., Rouleau G.A., Thomas G., Aurias A.; RT "Cloning of a balanced translocation breakpoint in the DiGeorge syndrome RT critical region and isolation of a novel potential adhesion receptor gene RT in its vicinity."; RL Hum. Mol. Genet. 4:551-558(1995). RN [2] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ALA-473. RC TISSUE=Brain; RX PubMed=7655455; DOI=10.1093/hmg/4.6.1027; RA Wadey R., Daw S., Taylor C., Atif U., Kamath S., Halford S., O'Donnell H., RA Wilson D., Goodship J., Burn J., Scambler P.J.; RT "Isolation of a gene encoding an integral membrane protein from the RT vicinity of a balanced translocation breakpoint associated with DiGeorge RT syndrome."; RL Hum. Mol. Genet. 4:1027-1033(1995). RN [3] RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). RX PubMed=19906316; DOI=10.1186/1471-2164-10-518; RA Wang P., Yu P., Gao P., Shi T., Ma D.; RT "Discovery of novel human transcript variants by analysis of intronic RT single-block EST with polyadenylation site."; RL BMC Genomics 10:518-518(2009). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Bone marrow; RX PubMed=8724849; DOI=10.1093/dnares/3.1.17; RA Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.; RT "Prediction of the coding sequences of unidentified human genes. V. The RT coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of RT cDNA clones from human cell line KG-1."; RL DNA Res. 3:17-24(1996). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). RC TISSUE=Placenta, and Trachea; 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 [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RX PubMed=15461802; DOI=10.1186/gb-2004-5-10-r84; RA Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., RA Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., RA Beare D.M., Dunham I.; RT "A genome annotation-driven approach to cloning the human ORFeome."; RL Genome Biol. 5:R84.1-R84.11(2004). RN [7] 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 [8] 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 [9] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Brain; 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). RN [10] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-381, AND IDENTIFICATION BY RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Cervix carcinoma, and Erythroleukemia; RX PubMed=23186163; DOI=10.1021/pr300630k; RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., RA Mohammed S.; RT "Toward a comprehensive characterization of a human cancer cell RT phosphoproteome."; RL J. Proteome Res. 12:260-271(2013). CC -!- FUNCTION: Putative adhesion receptor, that could be involved in cell- CC cell or cell-matrix interactions required for normal cell CC differentiation and migration. CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=P98153-1; Sequence=Displayed; CC Name=2; CC IsoId=P98153-2; Sequence=VSP_042886; CC Name=3; CC IsoId=P98153-3; Sequence=VSP_057188, VSP_057189; CC -!- TISSUE SPECIFICITY: Predominantly expressed in brain, heart, lung and CC fetal kidney. Low levels in liver and adult kidney. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; X84076; CAA58883.1; -; mRNA. DR EMBL; X83545; CAA58536.1; -; mRNA. DR EMBL; L46352; AAB59561.1; -; mRNA. DR EMBL; D79985; BAA11480.1; -; mRNA. DR EMBL; FJ032369; ACI00235.1; -; mRNA. DR EMBL; AK291670; BAF84359.1; -; mRNA. DR EMBL; AK304382; BAH14171.1; -; mRNA. DR EMBL; CR456433; CAG30319.1; -; mRNA. DR EMBL; AC000095; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC004461; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC004462; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC004471; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471176; EAX03061.1; -; Genomic_DNA. DR EMBL; BC032430; AAH32430.1; -; mRNA. DR CCDS; CCDS33598.1; -. [P98153-1] DR CCDS; CCDS54496.1; -. [P98153-2] DR PIR; I37579; I37579. DR PIR; I84463; I84463. DR RefSeq; NP_001167004.1; NM_001173533.1. [P98153-2] DR RefSeq; NP_001167005.1; NM_001173534.1. DR RefSeq; NP_005128.1; NM_005137.2. [P98153-1] DR AlphaFoldDB; P98153; -. DR SMR; P98153; -. DR BioGRID; 115314; 269. DR IntAct; P98153; 4. DR MINT; P98153; -. DR STRING; 9606.ENSP00000263196; -. DR GlyConnect; 1404; 1 N-Linked glycan (1 site). DR GlyCosmos; P98153; 2 sites, 1 glycan. DR GlyGen; P98153; 2 sites, 1 N-linked glycan (1 site). DR iPTMnet; P98153; -. DR PhosphoSitePlus; P98153; -. DR BioMuta; DGCR2; -. DR DMDM; 1708396; -. DR EPD; P98153; -. DR jPOST; P98153; -. DR MassIVE; P98153; -. DR MaxQB; P98153; -. DR PaxDb; 9606-ENSP00000263196; -. DR PeptideAtlas; P98153; -. DR ProteomicsDB; 57792; -. [P98153-1] DR ProteomicsDB; 57793; -. [P98153-2] DR Pumba; P98153; -. DR Antibodypedia; 7402; 166 antibodies from 25 providers. DR DNASU; 9993; -. DR Ensembl; ENST00000263196.12; ENSP00000263196.7; ENSG00000070413.20. [P98153-1] DR Ensembl; ENST00000537045.5; ENSP00000440062.1; ENSG00000070413.20. [P98153-2] DR GeneID; 9993; -. DR KEGG; hsa:9993; -. DR MANE-Select; ENST00000263196.12; ENSP00000263196.7; NM_005137.3; NP_005128.1. DR UCSC; uc062bkk.1; human. [P98153-1] DR AGR; HGNC:2845; -. DR CTD; 9993; -. DR DisGeNET; 9993; -. DR GeneCards; DGCR2; -. DR GeneReviews; DGCR2; -. DR HGNC; HGNC:2845; DGCR2. DR HPA; ENSG00000070413; Low tissue specificity. DR MalaCards; DGCR2; -. DR MIM; 600594; gene. DR neXtProt; NX_P98153; -. DR OpenTargets; ENSG00000070413; -. DR PharmGKB; PA27307; -. DR VEuPathDB; HostDB:ENSG00000070413; -. DR eggNOG; KOG1215; Eukaryota. DR GeneTree; ENSGT00390000017655; -. DR HOGENOM; CLU_036610_0_0_1; -. DR InParanoid; P98153; -. DR OMA; FHTVNMA; -. DR OrthoDB; 3145217at2759; -. DR PhylomeDB; P98153; -. DR TreeFam; TF330997; -. DR PathwayCommons; P98153; -. DR SignaLink; P98153; -. DR BioGRID-ORCS; 9993; 12 hits in 1153 CRISPR screens. DR ChiTaRS; DGCR2; human. DR GeneWiki; DGCR2; -. DR GenomeRNAi; 9993; -. DR Pharos; P98153; Tbio. DR PRO; PR:P98153; -. DR Proteomes; UP000005640; Chromosome 22. DR RNAct; P98153; Protein. DR Bgee; ENSG00000070413; Expressed in penis and 207 other cell types or tissues. DR ExpressionAtlas; P98153; baseline and differential. DR GO; GO:0016020; C:membrane; IBA:GO_Central. DR GO; GO:0030246; F:carbohydrate binding; IEA:UniProtKB-KW. DR GO; GO:0009887; P:animal organ morphogenesis; TAS:ProtInc. DR GO; GO:0007155; P:cell adhesion; IEA:UniProtKB-KW. DR GO; GO:0050890; P:cognition; IMP:UniProtKB. DR CDD; cd03599; CLECT_DGCR2_like; 1. DR CDD; cd00112; LDLa; 1. DR Gene3D; 4.10.400.10; Low-density Lipoprotein Receptor; 1. DR Gene3D; 3.10.100.10; Mannose-Binding Protein A, subunit A; 1. DR InterPro; IPR001304; C-type_lectin-like. DR InterPro; IPR016186; C-type_lectin-like/link_sf. DR InterPro; IPR016187; CTDL_fold. DR InterPro; IPR034010; DGCR2-like_CTLD. DR InterPro; IPR042378; IDD. DR InterPro; IPR036055; LDL_receptor-like_sf. DR InterPro; IPR023415; LDLR_class-A_CS. DR InterPro; IPR002172; LDrepeatLR_classA_rpt. DR InterPro; IPR001007; VWF_dom. DR PANTHER; PTHR15256; INTEGRAL MEMBRANE PROTEIN DGCR2/IDD; 1. DR PANTHER; PTHR15256:SF6; INTEGRAL MEMBRANE PROTEIN DGCR2_IDD; 1. DR Pfam; PF00057; Ldl_recept_a; 1. DR Pfam; PF00059; Lectin_C; 1. DR SMART; SM00034; CLECT; 1. DR SMART; SM00192; LDLa; 1. DR SMART; SM00214; VWC; 1. DR SUPFAM; SSF56436; C-type lectin-like; 1. DR SUPFAM; SSF57424; LDL receptor-like module; 1. DR PROSITE; PS50041; C_TYPE_LECTIN_2; 1. DR PROSITE; PS01209; LDLRA_1; 1. DR PROSITE; PS50068; LDLRA_2; 1. DR PROSITE; PS01208; VWFC_1; 1. DR Genevisible; P98153; HS. PE 1: Evidence at protein level; KW Alternative splicing; Cell adhesion; Disulfide bond; Glycoprotein; Lectin; KW Membrane; Phosphoprotein; Receptor; Reference proteome; Signal; KW Transmembrane; Transmembrane helix. FT SIGNAL 1..20 FT /evidence="ECO:0000255" FT CHAIN 21..550 FT /note="Integral membrane protein DGCR2/IDD" FT /id="PRO_0000021484" FT TOPO_DOM 21..349 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 350..368 FT /note="Helical" FT /evidence="ECO:0000255" FT TOPO_DOM 369..550 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT DOMAIN 28..68 FT /note="LDL-receptor class A" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00124" FT DOMAIN 115..241 FT /note="C-type lectin" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00040" FT DOMAIN 270..333 FT /note="VWFC" FT REGION 69..92 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 500..550 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOD_RES 381 FT /note="Phosphoserine" FT /evidence="ECO:0007744|PubMed:23186163" FT CARBOHYD 149 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 196 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT DISULFID 30..44 FT /evidence="ECO:0000250" FT DISULFID 37..57 FT /evidence="ECO:0000250" FT DISULFID 51..66 FT /evidence="ECO:0000250" FT DISULFID 145..265 FT /evidence="ECO:0000250" FT DISULFID 233..257 FT /evidence="ECO:0000250" FT VAR_SEQ 26..66 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_042886" FT VAR_SEQ 315..327 FT /note="QGCQQYRKDPKEC -> HGCSPLSCTARAT (in isoform 3)" FT /evidence="ECO:0000303|PubMed:19906316" FT /id="VSP_057188" FT VAR_SEQ 328..550 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:19906316" FT /id="VSP_057189" FT VARIANT 473 FT /note="V -> A (in dbSNP:rs2072123)" FT /evidence="ECO:0000269|PubMed:7655455" FT /id="VAR_020046" SQ SEQUENCE 550 AA; 60811 MW; 770204F2F36A8AAC CRC64; MVPKADSGAF LLLFLLVLTV TEPLRPELRC NPGQFACRSG TIQCIPLPWQ CDGWATCEDE SDEANCPEVT GEVRPHHGKE AVDPRQGRAR GGDPSHFHAV NVAQPVRFSS FLGKCPTGWH HYEGTASCYR VYLSGENYWD AAQTCQRLNG SLATFSTDQE LRFVLAQEWD QPERSFGWKD QRKLWVGYQY VITGRNRSLE GRWEVAFKGS SEVFLPPDPI FASAMSENDN VFCAQLQCFH FPTLRHHDLH SWHAESCYEK SSFLCKRSQT CVDIKDNVVD EGFYFTPKGD DPCLSCTCHG GEPEMCVAAL CERPQGCQQY RKDPKECCKF MCLDPDGNSL FDSMASGMRL VVSCISSFLI LSLLLFMVHR LRQRRRERIE SLIGANLHHF NLGRRIPGFD YGPDGFGTGL TPLHLSDDGE GGTFHFHDPP PPYTAYKYPD IGQPDDPPPP YEASIHPDSV FYDPADDDAF EPVEVSLPAP GDGGSEGALL RRLEQPLPTA GASLADLEDS ADSSSALLVP PDPAQSGSTP AAEALPGGGR HSRSSLNTVV //