IDD_HUMAN
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 03-AUG-2022, entry version 184.
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.
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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; 265.
DR IntAct; P98153; 4.
DR MINT; P98153; -.
DR STRING; 9606.ENSP00000263196; -.
DR GlyConnect; 1404; 1 N-Linked glycan (1 site).
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; P98153; -.
DR PeptideAtlas; P98153; -.
DR PRIDE; P98153; -.
DR ProteomicsDB; 57792; -. [P98153-1]
DR ProteomicsDB; 57793; -. [P98153-2]
DR Antibodypedia; 7402; 153 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 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; QQYRKEP; -.
DR PhylomeDB; P98153; -.
DR TreeFam; TF330997; -.
DR PathwayCommons; P98153; -.
DR SignaLink; P98153; -.
DR BioGRID-ORCS; 9993; 12 hits in 1073 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 205 other tissues.
DR ExpressionAtlas; P98153; baseline and differential.
DR Genevisible; P98153; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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; 3.10.100.10; -; 1.
DR Gene3D; 4.10.400.10; -; 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; PTHR15256; 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; SSF56436; 1.
DR SUPFAM; SSF57424; SSF57424; 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.
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
