P98153 (IDD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Integral membrane protein DGCR2/IDD

Gene names

Name:	DGCR2
Synonyms:	IDD, KIAA0163

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	550 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 process	Cell adhesion
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Ligand	Lectin
Molecular function	Receptor
PTM	Disulfide bond Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cell adhesion Inferred from electronic annotation. Source: UniProtKB-KW cognition Inferred from mutant phenotype PubMed 23227193. Source: UniProt organ morphogenesis Traceable author statement Ref.2. Source: ProtInc
Cellular_component	integral component of membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	carbohydrate 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 550	530	Integral membrane protein DGCR2/IDD		PRO_0000021484
Regions
	Topological domain	21 – 349	329	Extracellular Potential
	Transmembrane	350 – 368	19	Helical; Potential
	Topological domain	369 – 550	182	Cytoplasmic Potential
	Domain	28 – 68	41	LDL-receptor class A
	Domain	115 – 241	127	C-type lectin
	Domain	270 – 333	64	VWFC
Amino acid modifications
	Glycosylation	149	1	N-linked (GlcNAc...) Potential
	Glycosylation	196	1	N-linked (GlcNAc...) Potential
	Disulfide bond	30 ↔ 44		By similarity
	Disulfide bond	37 ↔ 57		By similarity
	Disulfide bond	51 ↔ 66		By similarity
	Disulfide bond	145 ↔ 265		By similarity
	Disulfide bond	233 ↔ 257		By similarity
Natural variations
	Alternative sequence	26 – 66	41	Missing in isoform 2.		VSP_042886
	Natural variant	473	1	V → A. Ref.2 Corresponds to variant rs2072123 [ dbSNP | Ensembl ].		VAR_020046

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 1996. Version 1. Checksum: 770204F2F36A8AAC	FASTA	550	60,811
	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
	Isoform 2 [UniParc]. Checksum: 4594D654E309AAAD	FASTA	509	56,284
	10 20 30 40 50 60 MVPKADSGAF LLLFLLVLTV TEPLRPEVTG EVRPHHGKEA VDPRQGRARG GDPSHFHAVN 70 80 90 100 110 120 VAQPVRFSSF LGKCPTGWHH YEGTASCYRV YLSGENYWDA AQTCQRLNGS LATFSTDQEL 130 140 150 160 170 180 RFVLAQEWDQ PERSFGWKDQ RKLWVGYQYV ITGRNRSLEG RWEVAFKGSS EVFLPPDPIF 190 200 210 220 230 240 ASAMSENDNV FCAQLQCFHF PTLRHHDLHS WHAESCYEKS SFLCKRSQTC VDIKDNVVDE 250 260 270 280 290 300 GFYFTPKGDD PCLSCTCHGG EPEMCVAALC ERPQGCQQYR KDPKECCKFM CLDPDGNSLF 310 320 330 340 350 360 DSMASGMRLV VSCISSFLIL SLLLFMVHRL RQRRRERIES LIGANLHHFN LGRRIPGFDY 370 380 390 400 410 420 GPDGFGTGLT PLHLSDDGEG GTFHFHDPPP PYTAYKYPDI GQPDDPPPPY EASIHPDSVF 430 440 450 460 470 480 YDPADDDAFE PVEVSLPAPG DGGSEGALLR RLEQPLPTAG ASLADLEDSA DSSSALLVPP 490 500 DPAQSGSTPA AEALPGGGRH SRSSLNTVV

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
CCDS	CCDS33598.1. [P98153-1] CCDS54496.1. [P98153-2]
PIR	I37579. I84463.
RefSeq	NP_001167004.1. NM_001173533.1. [P98153-2] NP_001167005.1. NM_001173534.1. NP_005128.1. NM_005137.2. [P98153-1]
UniGene	Hs.517357.
3D structure databases
ProteinModelPortal	P98153.
ModBase	Search...
MobiDB	Search...
Protein-protein interaction databases
BioGrid	115314. 3 interactions.
IntAct	P98153. 2 interactions.
MINT	MINT-1186622.
STRING	9606.ENSP00000263196.
PTM databases
PhosphoSite	P98153.
Polymorphism databases
DMDM	1708396.
Proteomic databases
MaxQB	P98153.
PaxDb	P98153.
PRIDE	P98153.
Protocols and materials databases
DNASU	9993.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000263196; ENSP00000263196; ENSG00000070413. [P98153-1] ENST00000537045; ENSP00000440062; ENSG00000070413. [P98153-2]
GeneID	9993.
KEGG	hsa:9993.
UCSC	uc002zoq.1. human. [P98153-1] uc021wky.1. human. [P98153-2]
Organism-specific databases
CTD	9993.
GeneCards	GC22M019023.
GeneReviews	DGCR2.
HGNC	HGNC:2845. DGCR2.
HPA	HPA000873.
MIM	600594. gene.
neXtProt	NX_P98153.
PharmGKB	PA27307.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG146589.
HOGENOM	HOG000112997.
HOVERGEN	HBG006117.
InParanoid	P98153.
OMA	SWHAESC.
OrthoDB	EOG7FXZXX.
PhylomeDB	P98153.
TreeFam	TF330997.
Gene expression databases
ArrayExpress	P98153.
Bgee	P98153.
CleanEx	HS_DGCR2.
Genevestigator	P98153.
Family and domain databases
Gene3D	3.10.100.10. 1 hit. 4.10.400.10. 1 hit.
InterPro	IPR001304. 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]
Pfam	PF00057. Ldl_recept_a. 1 hit. PF00059. Lectin_C. 1 hit. [Graphical view]
SMART	SM00034. CLECT. 1 hit. SM00192. LDLa. 1 hit. SM00214. VWC. 1 hit. [Graphical view]
SUPFAM	SSF56436. SSF56436. 1 hit. SSF57424. SSF57424. 1 hit.
PROSITE	PS50041. C_TYPE_LECTIN_2. 1 hit. PS01209. LDLRA_1. 1 hit. PS50068. LDLRA_2. 1 hit. PS01208. VWFC_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	DGCR2. human.
GeneWiki	DGCR2.
GenomeRNAi	9993.
NextBio	37751.
PRO	P98153.
SOURCE	Search...

Entry information

Entry name

IDD_HUMAN

Accession

Primary (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:	July 9, 2014
This is version 129 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.