Q9UHG0 (DCDC2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Doublecortin domain-containing protein 2

Alternative name(s):
Protein RU2S

Gene names

Name:	DCDC2
Synonyms:	KIAA1154, RU2

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	476 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in neuronal migration during development of the cerebral neocortex By similarity.
Tissue specificity	Ubiquitously expressed. In brain, highly expressed in the entorhinal cortex, inferior temporal cortex, medial temporal cortex, hypothalamus, amygdala and hippocampus. Ref.1 Ref.7
Involvement in disease	Defects in DCDC2 may be a cause of susceptibility to dyslexia type 2 (DYX2) [MIM:600202]; also known as specific reading disability type 2. Dyslexia is a relatively common, complex cognitive disorder that affects 5% to 10% of school-aged children. The disorder is characterized by an impairment of reading performance despite adequate motivational, educational and intellectual opportunities and in the absence of sensory or neurological disability. Ref.7
Sequence similarities	Contains 2 doublecortin domains.
Sequence caution	The sequence CAB61371.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Biological process	Neurogenesis
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cellular defense response Traceable author statement. Source: ProtInc intracellular signal transduction Inferred from electronic annotation. Source: InterPro neuron migration Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9UHG0-1)

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: Q9UHG0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-247: Missing.
     248-307: RKSKGSGNDR...KNSQETIPNS → MKMWNNWGWC...FDFHCVFVSI

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 476

476

Doublecortin domain-containing protein 2

PRO_0000079804

Regions

Domain

17 – 100

84

Doublecortin 1

Domain

139 – 221

83

Doublecortin 2

Natural variations

Alternative sequence

1 – 247

247

Missing in isoform 2.

VSP_014670

Alternative sequence

248 – 307

60

RKSKG…TIPNS → MKMWNNWGWCGGRRRGCTKI LSTKKGIQMSIKNKHLIVIP AFSHTMSQLDFDFHCVFVSI in isoform 2.

VSP_014671

Natural variant

152

1

P → A.
Corresponds to variant rs33914824 [ dbSNP | Ensembl ].

VAR_050946

Natural variant

221

1

S → G. Ref.1 Ref.2 Ref.4 Ref.6
Corresponds to variant rs2274305 [ dbSNP | Ensembl ].

VAR_022890

Natural variant

456

1

K → N.
Corresponds to variant rs9460973 [ dbSNP | Ensembl ].

VAR_050947

Experimental info

Sequence conflict

71

1

G → D in AAH50704. Ref.6

Sequence conflict

370

1

N → K in CAB61371. Ref.4

Sequence conflict

424

1

Q → R in CAH71788. Ref.5

Secondary structure

1

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476

Helix Strand Turn

Details...

Beta strand

139 – 143

5

Beta strand

149 – 151

3

Beta strand

154 – 158

5

Helix

160 – 163

4

Helix

166 – 176

11

Beta strand

186 – 189

4

Beta strand

194 – 197

4

Beta strand

206 – 210

5

Helix

221 – 224

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 15, 2007. Version 2. Checksum: 50DD06EA2FB9BD53	FASTA	476	52,834
	10 20 30 40 50 60 MSGSSARSSH LSQPVVKSVL VYRNGDPFYA GRRVVIHEKK VSSFEVFLKE VTGGVQAPFG 70 80 90 100 110 120 AVRNIYTPRT GHRIRKLDQI QSGGNYVAGG QEAFKKLNYL DIGEIKKRPM EVVNTEVKPV 130 140 150 160 170 180 IHSRINVSAR FRKPLQEPCT IFLIANGDLI NPASRLLIPR KTLNQWDHVL QMVTEKITLR 190 200 210 220 230 240 SGAVHRLYTL EGKLVESGAE LENGQFYVAV GRDKFKKLPY SELLFDKSTM RRPFGQKASS 250 260 270 280 290 300 LPPIVGSRKS KGSGNDRHSK STVGSSDNSS PQPLKRKGKK EDVNSEKLTK LKQNVKLKNS 310 320 330 340 350 360 QETIPNSDEG IFKAGAERSE TRGAAEVQED EDTQVEVPVD QRPAEIVDEE EDGEKANKDA 370 380 390 400 410 420 EQKEDFSGMN GDLEEEGGRE ATDAPEQVEE ILDHSEQQAR PARVNGGTDE ENGEELQQVN 430 440 450 460 470 NELQLVLDKE RKSQGAGSGQ DEADVDPQRP PRPEVKITSP EENENNQQNK DYAAVA
	Isoform 2 [UniParc]. Checksum: BAE1B1409AC4553E	FASTA	229	25,582
	10 20 30 40 50 60 MKMWNNWGWC GGRRRGCTKI LSTKKGIQMS IKNKHLIVIP AFSHTMSQLD FDFHCVFVSI 70 80 90 100 110 120 DEGIFKAGAE RSETRGAAEV QEDEDTQVEV PVDQRPAEIV DEEEDGEKAN KDAEQKEDFS 130 140 150 160 170 180 GMNGDLEEEG GREATDAPEQ VEEILDHSEQ QARPARVNGG TDEENGEELQ QVNNELQLVL 190 200 210 220 DKERKSQGAG SGQDEADVDP QRPPRPEVKI TSPEENENNQ QNKDYAAVA

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A new antigen recognized by cytolytic T lymphocytes on a human kidney tumor results from reverse strand transcription." Van den Eynde B.J., Gaugler B., Probst-Kepper M., Michaux L., Devuyst O., Lorge F., Weynants P., Boon T. J. Exp. Med. 190:1793-1800(1999) [PubMed: 10601354] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT GLY-221.
[2]	"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain." Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O. DNA Res. 6:329-336(1999) [PubMed: 10574461] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLY-221. Tissue: Brain.
[3]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION.
[4]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLY-221. Tissue: Fetal brain.
[5]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLY-221. Tissue: Colon.
[7]	"DCDC2 is associated with reading disability and modulates neuronal development in the brain." Meng H., Smith S.D., Hager K., Held M., Liu J., Olson R.K., Pennington B.F., DeFries J.C., Gelernter J., O'Reilly-Pol T., Somlo S., Skudlarski P., Shaywitz S.E., Shaywitz B.A., Marchione K., Wang Y., Paramasivam M., LoTurco J.J., Page G.P., Gruen J.R. Proc. Natl. Acad. Sci. U.S.A. 102:17053-17058(2005) [PubMed: 16278297] [Abstract] Cited for: INVOLVEMENT IN DYX2, TISSUE SPECIFICITY.
[8]	"Solution structure of RSGI RUH-062, a DCX domain from human." RIKEN structural genomics initiative (RSGI) Submitted (OCT-2006) to the PDB data bank Cited for: STRUCTURE BY NMR OF 132-226.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AF181720 Genomic DNA. Translation: AAF23610.1.
AF181721 mRNA. Translation: AAF23612.1.
AB032980 mRNA. Translation: BAA86468.2.
AL133043 mRNA. Translation: CAB61371.1. Different initiation.
AL591344 Genomic DNA. Translation: CAH71788.1.
AL591344, AL359389, AL359713 Genomic DNA. Translation: CAH71789.1.
AL359713, AL359389, AL591344 Genomic DNA. Translation: CAI17104.1.
AL359389, AL359713, AL591344 Genomic DNA. Translation: CAH73546.1.
BC050704 mRNA. Translation: AAH50704.1.

IPI

IPI00008917.
IPI00383816.

PIR

T42643.

RefSeq

NP_001182539.1. NM_001195610.1.
NP_057440.2. NM_016356.3.

UniGene

Hs.61345.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2DNF	NMR	-	A	132-226	[»]

ProteinModelPortal

Q9UHG0.

SMR

Q9UHG0. Positions 12-107, 132-226.

ModBase

Search...

Protein-protein interaction databases

STRING

Q9UHG0.

PTM databases

PhosphoSite

Q9UHG0.

Polymorphism databases

DMDM

147744557.

Proteomic databases

PRIDE

Q9UHG0.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000378454; ENSP00000367715; ENSG00000146038.

GeneID

51473.

KEGG

hsa:51473.

UCSC

uc003ndw.1. human.
uc003ndx.1. human.

Organism-specific databases

CTD

51473.

GeneCards

GC06M024122.

HGNC

HGNC:18141. DCDC2.

HPA

HPA031582.

MIM

600202. phenotype.
605755. gene.

neXtProt

NX_Q9UHG0.

PharmGKB

PA134978716.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

GeneTree

ENSGT00510000046928.

HOVERGEN

HBG051319.

InParanoid

Q9UHG0.

OMA

SYGQKAS.

OrthoDB

EOG4CNQRK.

PhylomeDB

Q9UHG0.

Gene expression databases

ArrayExpress

Q9UHG0.

Bgee

Q9UHG0.

CleanEx

HS_DCDC2.

Genevestigator

Q9UHG0.

GermOnline

ENSG00000146038. Homo sapiens.

Family and domain databases

InterPro

IPR003533. Doublecortin_dom.
[Graphical view]

Gene3D

G3DSA:3.10.20.230. Doublecortin_dom. 2 hits.

Pfam

PF03607. DCX. 2 hits.
[Graphical view]

SMART

SM00537. DCX. 2 hits.
[Graphical view]

SUPFAM

SSF89837. Doublecortin_dom. 2 hits.

PROSITE

PS50309. DC. 2 hits.
[Graphical view]

ProtoNet

Search...

Other

NextBio

55105.

SOURCE

Search...

Entry information

Entry name

DCDC2_HUMAN

Accession

Primary (citable) accession number: Q9UHG0
Secondary accession number(s): Q5VTR8 , Q5VTR9, Q86W35, Q9UFD1, Q9UHG1, Q9ULR6

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 14, 2003
Last sequence update:	May 15, 2007
Last modified:	December 14, 2011
This is version 89 of the entry and version 2 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.