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P98153 (IDD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Integral membrane protein DGCR2/IDD
Gene names
Name:DGCR2
Synonyms:IDD, KIAA0163
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length550 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Putative adhesion receptor, that could be involved in cell-cell or cell-matrix interactions required for normal cell differentiation and migration.

Subcellular location

Membrane; Single-pass type I membrane protein.

Tissue specificity

Predominantly expressed in brain, heart, lung and fetal kidney. Low levels in liver and adult kidney.

Sequence similarities

Contains 1 C-type lectin domain.

Contains 1 LDL-receptor class A domain.

Contains 1 VWFC domain.

Ontologies

Keywords
   Biological processCell adhesion
   Cellular componentMembrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   LigandLectin
   Molecular functionReceptor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell adhesion

Inferred from electronic annotation. Source: UniProtKB-KW

organ morphogenesis

Traceable author statement Ref.2. Source: ProtInc

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functioncarbohydrate binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P98153-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P98153-2)

The sequence of this isoform differs from the canonical sequence as follows:
     26-66: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 550530Integral membrane protein DGCR2/IDD
PRO_0000021484

Regions

Topological domain21 – 349329Extracellular Potential
Transmembrane350 – 36819Helical; Potential
Topological domain369 – 550182Cytoplasmic Potential
Domain28 – 6841LDL-receptor class A
Domain115 – 241127C-type lectin
Domain270 – 33364VWFC

Amino acid modifications

Glycosylation1491N-linked (GlcNAc...) Potential
Glycosylation1961N-linked (GlcNAc...) Potential
Disulfide bond30 ↔ 44 By similarity
Disulfide bond37 ↔ 57 By similarity
Disulfide bond51 ↔ 66 By similarity
Disulfide bond145 ↔ 265 By similarity
Disulfide bond233 ↔ 257 By similarity

Natural variations

Alternative sequence26 – 6641Missing in isoform 2.
VSP_042886
Natural variant4731V → A. Ref.2
Corresponds to variant rs2072123 [ dbSNP | Ensembl ].
VAR_020046

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 770204F2F36A8AAC

FASTA55060,811
        10         20         30         40         50         60 
MVPKADSGAF LLLFLLVLTV TEPLRPELRC NPGQFACRSG TIQCIPLPWQ CDGWATCEDE 

        70         80         90        100        110        120 
SDEANCPEVT GEVRPHHGKE AVDPRQGRAR GGDPSHFHAV NVAQPVRFSS FLGKCPTGWH 

       130        140        150        160        170        180 
HYEGTASCYR VYLSGENYWD AAQTCQRLNG SLATFSTDQE LRFVLAQEWD QPERSFGWKD 

       190        200        210        220        230        240 
QRKLWVGYQY VITGRNRSLE GRWEVAFKGS SEVFLPPDPI FASAMSENDN VFCAQLQCFH 

       250        260        270        280        290        300 
FPTLRHHDLH SWHAESCYEK SSFLCKRSQT CVDIKDNVVD EGFYFTPKGD DPCLSCTCHG 

       310        320        330        340        350        360 
GEPEMCVAAL CERPQGCQQY RKDPKECCKF MCLDPDGNSL FDSMASGMRL VVSCISSFLI 

       370        380        390        400        410        420 
LSLLLFMVHR LRQRRRERIE SLIGANLHHF NLGRRIPGFD YGPDGFGTGL TPLHLSDDGE 

       430        440        450        460        470        480 
GGTFHFHDPP PPYTAYKYPD IGQPDDPPPP YEASIHPDSV FYDPADDDAF EPVEVSLPAP 

       490        500        510        520        530        540 
GDGGSEGALL RRLEQPLPTA GASLADLEDS ADSSSALLVP PDPAQSGSTP AAEALPGGGR 

       550 
HSRSSLNTVV 

« Hide

Isoform 2 [UniParc].

Checksum: 4594D654E309AAAD
Show »

FASTA50956,284

References

« Hide 'large scale' references
[1]"Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity."
Demczuk S., Aledo R., Zucman J., Delattre O., Desmaze C., Dauphinot L., Jalbert P., Rouleau G.A., Thomas G., Aurias A.
Hum. Mol. Genet. 4:551-558(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Fetal brain.
[2]"Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome."
Wadey R., Daw S., Taylor C., Atif U., Kamath S., Halford S., O'Donnell H., Wilson D., Goodship J., Burn J., Scambler P.J.
Hum. Mol. Genet. 4:1027-1033(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-473.
Tissue: Brain.
[3]"Prediction of the coding sequences of unidentified human genes. V. The coding sequences of 40 new genes (KIAA0161-KIAA0200) deduced by analysis of cDNA clones from human cell line KG-1."
Nagase T., Seki N., Ishikawa K., Tanaka A., Nomura N.
DNA Res. 3:17-24(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Bone marrow.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Placenta and Trachea.
[5]"A genome annotation-driven approach to cloning the human ORFeome."
Collins J.E., Wright C.L., Edwards C.A., Davis M.P., Grinham J.A., Cole C.G., Goward M.E., Aguado B., Mallya M., Mokrab Y., Huckle E.J., Beare D.M., Dunham I.
Genome Biol. 5:R84.1-R84.11(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[6]"The DNA sequence of human chromosome 22."
Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M. expand/collapse author list , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
X84076 mRNA. Translation: CAA58883.1.
X83545 mRNA. Translation: CAA58536.1.
L46352 mRNA. Translation: AAB59561.1.
D79985 mRNA. Translation: BAA11480.1.
AK291670 mRNA. Translation: BAF84359.1.
AK304382 mRNA. Translation: BAH14171.1.
CR456433 mRNA. Translation: CAG30319.1.
AC000095 Genomic DNA. No translation available.
AC004461 Genomic DNA. No translation available.
AC004462 Genomic DNA. No translation available.
AC004471 Genomic DNA. No translation available.
CH471176 Genomic DNA. Translation: EAX03061.1.
BC032430 mRNA. Translation: AAH32430.1.
PIRI37579.
I84463.
RefSeqNP_001167004.1. NM_001173533.1.
NP_001167005.1. NM_001173534.1.
NP_005128.1. NM_005137.2.
UniGeneHs.517357.

3D structure databases

ProteinModelPortalP98153.
SMRP98153. Positions 27-129, 224-278, 285-338.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115314. 3 interactions.
IntActP98153. 2 interactions.
MINTMINT-1186622.
STRING9606.ENSP00000263196.

PTM databases

PhosphoSiteP98153.

Polymorphism databases

DMDM1708396.

Proteomic databases

PaxDbP98153.
PRIDEP98153.

Protocols and materials databases

DNASU9993.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263196; ENSP00000263196; ENSG00000070413. [P98153-1]
ENST00000537045; ENSP00000440062; ENSG00000070413. [P98153-2]
GeneID9993.
KEGGhsa:9993.
UCSCuc002zoq.1. human. [P98153-1]
uc021wky.1. human. [P98153-2]

Organism-specific databases

CTD9993.
GeneCardsGC22M019023.
HGNCHGNC:2845. DGCR2.
HPAHPA000873.
MIM600594. gene.
neXtProtNX_P98153.
PharmGKBPA27307.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG146589.
HOGENOMHOG000112997.
HOVERGENHBG006117.
InParanoidP98153.
OMASWHAESC.
OrthoDBEOG7FXZXX.
PhylomeDBP98153.
TreeFamTF330997.

Gene expression databases

ArrayExpressP98153.
BgeeP98153.
CleanExHS_DGCR2.
GenevestigatorP98153.

Family and domain databases

Gene3D3.10.100.10. 1 hit.
4.10.400.10. 1 hit.
InterProIPR001304. C-type_lectin.
IPR016186. C-type_lectin-like.
IPR016187. C-type_lectin_fold.
IPR023415. LDLR_class-A_CS.
IPR002172. LDrepeatLR_classA_rpt.
IPR001007. VWF_C.
[Graphical view]
PfamPF00057. Ldl_recept_a. 1 hit.
PF00059. Lectin_C. 1 hit.
[Graphical view]
SMARTSM00034. CLECT. 1 hit.
SM00192. LDLa. 1 hit.
SM00214. VWC. 1 hit.
[Graphical view]
SUPFAMSSF56436. SSF56436. 1 hit.
SSF57424. SSF57424. 1 hit.
PROSITEPS50041. C_TYPE_LECTIN_2. 1 hit.
PS01209. LDLRA_1. 1 hit.
PS50068. LDLRA_2. 1 hit.
PS01208. VWFC_1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSDGCR2. human.
GeneWikiDGCR2.
GenomeRNAi9993.
NextBio37751.
PROP98153.
SOURCESearch...

Entry information

Entry nameIDD_HUMAN
AccessionPrimary (citable) accession number: P98153
Secondary accession number(s): A6NIB5, A8K6K5, B7Z935
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: April 16, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 22

Human chromosome 22: entries, gene names and cross-references to MIM