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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CC2D1B Gene

protein-coding GIFtS: 43
GCID: GC01M052811

coiled-coil and C2 domain containing 1B

Explore 1 disease affiliated with
CC2D1B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Coiled-Coil And C2 Domain Containing 1B¹ ²		Coiled-Coil And C2 Domain-Containing Protein 1B²
KIAA1836¹ ³		Freud-2³
Five Prime Repressor Element Under Dual Repression-Binding Protein 2² ³		Freud-2³
FRE Under Dual Repression-Binding Protein 2² ³

External Ids:	HGNC: 29386¹	Entrez Gene: 200014²	Ensembl: ENSG00000154222⁷	UniProtKB: Q5T0F9³

Export aliases for CC2D1B gene to outside databases

Previous GC identifers: GC01M052529 GC01M050932

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: C2D1B_HUMAN, Q5T0F9

Function: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene

transcription in neuronal cells

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CC2D1B gene promoter:
NF-1 Pax-5 p53 AP-1 STAT5A MIF-1 AP-2gamma AREB6 MZF-1 Ik-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CC2D1B promoter sequence

Search SABiosciences Chromatin IP Primers for CC2D1B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CC2D1B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32.3 Ensembl cytogenetic band: 1p32.3 HGNC cytogenetic band: 1p32.3

CC2D1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CC2D1B gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M052811: view genomic region (about GC identifiers)

Start:	52,811,395 bp from pter	End:	52,831,865 bp from pter
Size:	20,471 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: C2D1B_HUMAN, Q5T0F9 (See protein sequence)

Recommended Name: Coiled-coil and C2 domain-containing protein 1B

Size: 858 amino acids; 94224 Da

Subcellular location: Nucleus

Sequence caution: Sequence=BAC85450.1; Type=Miscellaneous discrepancy; Sequence=CAI12282.1; Type=Erroneous gene model

prediction;

Secondary accessions: Q49AE8 Q5T0F8 Q5T0G0 Q6ZNQ1 Q96AP3 Q96I04 Q96JJ1

Alternative splicing: 5 isoforms: Q5T0F9-1 Q5T0F9-2 Q5T0F9-3 Q5T0F9-4 Q5T0F9-5

Explore the universe of human proteins at neXtProt for CC2D1B: NX_Q5T0F9

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5T0F9

CC2D1B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_115825.1

ENSEMBL proteins:

ENSP00000360642 ENSP00000284376 ENSP00000395921 ENSP00000402440 ENSP00000406300

Human Recombinant Protein Products:

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	Uscn Proteins for CC2D1B

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

CC2D1B for ontologies About GeneDecksing

CC2D1B Antibody Products:

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	Uscn ELISAs and CLIAs for CC2D1B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CC2D1B for domains About GeneDecksing

3 InterPro domains/families:

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR000008 C2_Ca-dep

IPR006608 DM14

Graphical View of Domain Structure for InterPro Entry Q5T0F9

ProtoNet protein and cluster: Q5T0F9

1 Blocks protein family: IPB000008 C2 domain

UniProtKB/Swiss-Prot: C2D1B_HUMAN, Q5T0F9

Similarity: Belongs to the CC2D1 family

Similarity: Contains 1 C2 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: C2D1B_HUMAN, Q5T0F9

Function: Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene

transcription in neuronal cells

miRNA Products:		OriGene 3'-UTR Clone: CC2D1B Browse MicroRNA Expression Plasmids
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		8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate CC2D1B (see all 54):
		hsa-miR-2052 hsa-miR-199a-3p hsa-miR-15a hsa-miR-1260b hsa-miR-503 hsa-miR-624* hsa-miR-3653 hsa-miR-301a

		SwitchGear 3'UTR luciferase reporter plasmid: CC2D1B 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CC2D1B

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	--
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription	IEA	--

CC2D1B for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CC2D1B

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/8 Interacting proteins for CC2D1B (ENSP00000360642⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ELAVL4	ENSP00000349594⁴	STRING: ENSP00000349594
GCSAML	ENSP00000355444⁴	STRING: ENSP00000355444
GPX7	ENSP00000354677⁴	STRING: ENSP00000354677
KTI12	ENSP00000360676⁴	STRING: ENSP00000360676
PPIH	ENSP00000306614⁴	STRING: ENSP00000306614

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	--	--
GO:0006351	transcription, DNA-dependent	--	--
GO:0006355	regulation of transcription, DNA-dependent	--	--

CC2D1B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CC2D1B
Search CenterWatch for drugs/clinical trials and news about CC2D1B / C2D1B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CC2D1B gene:

NM_032449.2

Unigene Cluster for CC2D1B:

Coiled-coil and C2 domain containing 1B

Hs.591451 [show with all ESTs]

Unigene Representative Sequence: NM_032449

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000470844 ENST00000371586(uc001ctq.2) ENST00000491136 ENST00000284376(uc001ctr.3 uc001cts.3)

ENST00000460727 ENST00000438021 ENST00000460261 ENST00000450942 ENST00000460370

ENST00000492426 ENST00000485966 ENST00000494789 ENST00000438831

miRNA Products:		OriGene 3'-UTR Clone: CC2D1B Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CC2D1B
		8/54 QIAGEN miScript miRNA Assays for microRNAs that regulate CC2D1B (see all 54):
		hsa-miR-2052 hsa-miR-199a-3p hsa-miR-15a hsa-miR-1260b hsa-miR-503 hsa-miR-624* hsa-miR-3653 hsa-miR-301a

		SwitchGear 3'UTR luciferase reporter plasmid: CC2D1B 3' UTR sequence

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Additional cDNA sequence:

AB058739.1 AK093605.1 AK095487.1 AK130874.1 BC007912.2 BC014080.2 BC016880.1 BC039308.1

11 DOTS entries:

DT.95353625 DT.92429656 DT.100774037 DT.95084803 DT.211362 DT.215433 DT.91924706 DT.121435052

DT.121435088 DT.91837587 DT.92429658

24/189 AceView cDNA sequences (see all 189):

BM893844 AI349471 AK130874 AA291544 BU633233 AW276610 CA424708 BM673664

AA436647 BM698915 AI678189 BM967157 AA831760 BC007912 AW001104 AW080508

BE883049 AI624665 BU616172 BU630208 BC016880 T10782 BM673856 AI703399

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CC2D1B (see all 10) About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	·	4c	^	5a	·	5b	·	5c	^	6	^	7	^	8a	·	8b	^	9	^	10a	·	10b	^	11a	·	11b	^	12	^	13a	·	13b	^	14a	·
SP1:																																															-				-
SP2:																					-		-																		-										-
SP3:																																															-				-
SP4:																																									-						-				-
SP5:																																									-						-				-

ExUns:	14b	^	15	^	16	^	17	^	18	^	19	^	20	^	21a	·	21b	^	22a	·	22b	·	22c	·	22d	^	23
SP1:																	-								-
SP2:															-		-
SP3:															-		-
SP4:															-		-				-		-		-
SP5:															-		-								-

ECgene alternative splicing isoforms for CC2D1B

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CC2D1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See CC2D1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CC2D1B

SOURCE GeneReport for Unigene cluster: Hs.591451

UniProtKB/Swiss-Prot: C2D1B_HUMAN, Q5T0F9

Tissue specificity: Widely distributed in brain and peripheral tissues

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CC2D1B gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CC2D1B¹	coiled-coil and C2 domain containing 1B	61.48(n) 59.95(a)		772226 XM_001235392.2 XP_001235393.2
lizard (Anolis carolinensis)	Reptilia	CC2D1B⁶	--	57(a)	1 ↔ 1	4(114508616-114543405)
African clawed frog (Xenopus laevis)	Amphibia	MGC68887²	hypothetical protein MGC68887	75.66(n)		BC057723.1
zebrafish (Danio rerio)	Actinopterygii	wufb71c02²	wufb71c02	71.69(n)		322706 BQ449850.1
fruit fly (Drosophila melanogaster)	Insecta	l(2)gd1¹	lethal (2) giant discs 1	48.7(n) 38.67(a)		34543 NM_135644.3 NP_609488.1
worm (Caenorhabditis elegans)	Secernentea	CELE_Y37H9A.3¹	Protein Y37H9A.3	44.43(n) 34.4(a)		173244 NM_061011.2 NP_493412.2

ENSEMBL Gene Tree for CC2D1B (if available)
TreeFam Gene Tree for CC2D1B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CC2D1B gene

CC2D1A²

1 SIMAP similar gene for CC2D1B using alignment to 3 protein entries: C2D1B_HUMAN (see all proteins):

CC2D1A

CC2D1B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs184934237^1,2		--	52815780(+)	`AGATGG/TGGTTT`	1	--	int¹		0	--	--	--	--
rs139286329^1,2		--	52815876(+)	`GCCACC/TGTGCC`	1	--	int¹		0	--	--	--	--
rs148849671^1,2		--	52816020(+)	`AGAAAC/TGAATC`	1	--	int¹		0	--	--	--	--
rs189743576^1,2		--	52816337(+)	`ATCAAA/CGAATT`	1	--	ut3¹		0	--	--	--	--
rs72895984^1,2	C,	--	52816415(+)	`TTGGAT/AACTGT`	1	--	ut3¹		3		WA CSA	121
rs183063194^1,2		--	52816472(+)	`GAGTGC/TAGTGG`	1	--	ut3¹		0	--	--	--	--
rs111652616^1,2	C,F,	--	52816505(+)	`CTCTGC/GTTCCT`	1	--	ut3¹		4		WA CSA	123
rs187397756^1,2		--	52816564(+)	`AGGCGC/TCGGCC`	1	--	ut3¹		0	--	--	--	--
rs117078869^1,2	F,	--	52816577(+)	`CATGCC/TCAGCT`	1	--	ut3¹		1		EA	120
rs191798631^1,2		--	52816587(+)	`TAATTA/GTTTTT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CC2D1B (52811395 - 52831865 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CC2D1B: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CC2D1B

DNA2.0 Custom Variant and Variant Library Synthesis for CC2D1B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CC2D1B for disorders About GeneDecksing

1 disease for CC2D1B: About MalaCards

neuronitis

Export disorders for CC2D1B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CC2D1B gene, integrated from 9 sources (see all 13):
(articles sorted by number of sources associating them with CC2D1B)

Utopia: connect your pdf to the dynamic
world of online information

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)^{1, 2, 3} Nagase T.... Ohara O. (2001)
Human Freud-2/CC2D1B: a novel repressor of postsynapt ic serotonin-1A receptor expression. (PubMed id 19423080)^{1, 2} Hadjighassem M.R....Albert P.R. (2009)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)¹ Long P....Rose S. (2012)
A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
The Drosophila Notch inhibitor and tumor suppressor gene lethal (2) giant discs encodes a conserved regulator of endosomal trafficking. (PubMed id 17084358)¹ Jaekel R. and Klein T. (2006)
The conserved c2 domain protein lethal (2) giant discs regulates protein trafficking in Drosophila. (PubMed id 17084357)¹ Gallagher C.M. and Knoblich J.A. (2006)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)² Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 200014	HGNC: 29386	AceView: KIAA1836	Ensembl:ENSG00000154222	euGenes: HUgn200014
ECgene: CC2D1B	H-InvDB: CC2D1B

(According to HUGE)
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HUGE: KIAA1836

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CC2D1B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CC2D1B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CC2D1B gene:
Search GeneIP for patents involving CC2D1B

GeneCards and IP:
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CC2D1B Gene

coiled-coil and C2 domain containing 1B

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CC2D1B Gene

coiled-coil and C2 domain containing 1B

Aliasesfor CC2D1B gene

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Intellectual Property
for CC2D1B gene

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for CC2D1B gene