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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

EFCAB7 Gene

protein-coding GIFtS: 40
GCID: GC01P063989

EF-hand calcium binding domain 7

Search for EFCAB7
in

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
EF-Hand Calcium Binding Domain 7¹ ²
RP4-534K7.1¹ ²
KIAA1799¹ ³
EF-Hand Calcium-Binding Domain-Containing Protein 7²

External Ids:	HGNC: 29379¹	Entrez Gene: 84455²	Ensembl: ENSG00000203965⁷	UniProtKB: A8K855³

Export aliases for EFCAB7 gene to outside databases

Previous GC identifers: GC01P063761 GC01P062097

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

(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 EFCAB7 gene promoter:
Pax-6 Pax-2 Pax-2a FOXL1 AREB6 Pax-3 POU2F1 POU2F1b POU2F1a POU2F1c
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: EFCAB7 promoter sequence

Search SABiosciences Chromatin IP Primers for EFCAB7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EFCAB7

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

Entrez Gene cytogenetic band: 1p31.3 Ensembl cytogenetic band: 1p31.3 HGNC cytogenetic band: 1p31.3

EFCAB7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFCAB7 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P063989: view genomic region (about GC identifiers)

Start:	63,989,013 bp from pter	End:	64,038,364 bp from pter
Size:	49,352 bases	Orientation:	plus 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,
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About This Section

UniProtKB/Swiss-Prot: EFCB7_HUMAN, A8K855 (See protein sequence)

Recommended Name: EF-hand calcium-binding domain-containing protein 7

Size: 629 amino acids; 71981 Da

Sequence caution: Sequence=BAB47428.1; Type=Erroneous initiation;

Secondary accessions: Q658P0 Q96B95 Q96JM6

Alternative splicing: 2 isoforms: A8K855-1 A8K855-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EFCAB7: NX_A8K855

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_A8K855

EFCAB7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_115813.2

ENSEMBL proteins:

ENSP00000360129

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

EFCAB7 for domains About GeneDecksing

3 InterPro domains/families:

IPR018247 EF_Hand_1_Ca_BS

IPR011992 EF-hand-like_dom

IPR002048 EF_hand_Ca-bd

Graphical View of Domain Structure for InterPro Entry A8K855

ProtoNet protein and cluster: A8K855

UniProtKB/Swiss-Prot: EFCB7_HUMAN, A8K855

Similarity: Contains 3 EF-hand domains

(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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005509	calcium ion binding	IEA	--

EFCAB7 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 EFCAB7

(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

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(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,
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About This Section

REFSEQ mRNAs for EFCAB7 gene:

NM_032437.2

Unigene Cluster for EFCAB7:

EF-hand calcium binding domain 7

Hs.652324 [show with all ESTs]

Unigene Representative Sequence: AB058702

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

ENST00000480886 ENST00000371088(uc001dbf.3) ENST00000493605 ENST00000496956

ENST00000460678 ENST00000461039

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Additional cDNA sequence:

AB058702.1 AK092219.1 AK292220.1 AK315850.1 AL833720.1 BC015814.1

4 DOTS entries:

DT.86853560 DT.100821954 DT.100821952 DT.97861898

24/69 AceView cDNA sequences (see all 69):

R46805 BE504962 AF254117 AW205244 AA741483 AB058702 BX105630 AL710961

AA905286 BF111199 AA400005 BU620632 AA307892 AI688852 AI277599 AI689951

BF115321 AK092219 BM802659 AI989837 AI640798 AK022419 BX494494 AI458374

GeneLoc Exon Structure

(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

EFCAB7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTATGTACTT

About this image

EFCAB7 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See EFCAB7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for EFCAB7

SOURCE GeneReport for Unigene cluster: Hs.652324

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In Situ
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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 EFCAB7 gene from 5/15 species (see all 15) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Efcab7^{1 , 5}	EF-hand calcium binding domain 7^{1, 5}	85.99(n)¹ 82.96(a)¹		4 (45.71 cM)⁵ 230500¹ NM_145549.1¹ NP_663524.1¹ 99829198⁵
chicken (Gallus gallus)	Aves	EFCAB7¹	EF-hand calcium binding domain 7	72.73(n) 65.87(a)		100858847 XM_003641717.1 XP_003641765.1
lizard (Anolis carolinensis)	Reptilia	EFCAB7⁶	--	60(a)	1 ↔ 1	4(99187909-99208073)
zebrafish (Danio rerio)	Actinopterygii	efcab7¹	EF-hand calcium binding domain 7	59.93(n) 56.43(a)		415210 NM_001002120.1 NP_001002120.1
worm (Caenorhabditis elegans)	Secernentea	T02G5.2⁶	Protein T02G5.2	26(a)	1 ↔ 1	II(7095453-7096291)

ENSEMBL Gene Tree for EFCAB7 (if available)
TreeFam Gene Tree for EFCAB7 (if available)

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

(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
				--	--	--		--	--
rs184269237^1,2		--	63991035(+)	`TTGTTG/TAATAT`	1	--	int¹		0	--	--	--	--
rs9436686^1,2	C,F,H,	--	63991140(+)	`TTCTAC/TGTATA`	1	--	int¹		17		NA NS EA WA CSA	928
rs189267421^1,2		--	63991189(+)	`GACATC/TTGTGT`	1	--	int¹		0	--	--	--	--
rs201443457^1,2		--	63991217(+)	`ACAAAA/CACATT`	1	--	int¹		0	--	--	--	--
rs200522774^1,2	C,	--	63991239(+)	`TTCCAA/GTAGAA`	1	--	int¹		1		EU	1293
rs217478^1,2	C,F,O,A,H,	--	63991267(+)	`AGCGAC/TGCAAC`	2	D	syn¹ ese³		26		EA NA NS WA CSA EU	8337
rs17125106^1,2	C,F,H,	--	63991322(+)	`AGAAAT/ATTCCA`	2	/I /F	mis¹		10		NA NS EA WA	5180
rs150959222^1,2	C,F,	--	63991328(+)	`TTCCAC/GTAACT`	2	L V	mis¹		1		NA	4440
rs143257051^1,2	C,F,	--	63991379(+)	`TAACTG/ATCTTC`	2	/I /V	mis¹		1		NA	4152
rs35446626^1,2	C,F,	--	63991490(+)	`GGTCCG/AAAAGA`	1	--	int¹		7		NA WA EA	366

HapMap Linkage Disequilibrium report for EFCAB7 (63989013 - 64038364 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for EFCAB7: --

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(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

(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 EFCAB7 gene integrated from 9 sources:
(articles sorted by number of sources associating them with EFCAB7)

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)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)² Bechtel S.... Schupp I. (2007)
The LIFEdb database in 2006. (PubMed id 16381901)¹ Mehrle A....Wiemann S. (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)
From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)¹ Wiemann S....Poustka A. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
DNA cloning using in vitro site-specific recombination. (PubMed id 11076863)¹ Hartley J.L....Brasch M.A. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		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)
About This Section

Entrez Gene: 84455	HGNC: 29379	AceView: KIAA1799	Ensembl:ENSG00000203965	euGenes: HUgn84455
ECgene: EFCAB7	H-InvDB: EFCAB7

(According to HUGE)
About This Section

HUGE: KIAA1799

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for EFCAB7	Pharmacogenomics, SNPs, Pathways

Intellectual Property for EFCAB7 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for EFCAB7 gene:
Search GeneIP for patents involving EFCAB7

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section


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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFCAB7

	SwitchGear 3'UTR luciferase reporter plasmids for EFCAB7
	SwitchGear Promoter luciferase reporter plasmids for EFCAB7

Search ThermoFisher Antibodies for EFCAB7

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EFCAB7

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes EFCAB7 gene at Home site.

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EFCAB7 Gene

EF-hand calcium binding domain 7

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EFCAB7 Gene

EF-hand calcium binding domain 7

Aliasesfor EFCAB7 gene

Summariesfor EFCAB7 gene

Genomic Viewsfor EFCAB7 gene

Proteinsfor EFCAB7 gene

Protein Domains /Familiesfor EFCAB7 gene

Functionfor EFCAB7 gene

Pathways & Interactionsfor EFCAB7 gene

Drugs & Compoundsfor EFCAB7 gene

Transcriptsfor EFCAB7 gene

Expression for EFCAB7 gene

Orthologsfor EFCAB7 gene

Paralogsfor EFCAB7 gene

Genomic Variantsfor EFCAB7 gene

Disorders / Diseasesfor EFCAB7 gene

Publicationsfor EFCAB7 gene

External Searches for EFCAB7 gene

Genome Databases showing EFCAB7 gene

Other Databases showing EFCAB7 gene

Specialized Databases showing EFCAB7 gene

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Productsfor EFCAB7 gene

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Aliases
for EFCAB7 gene

Summaries
for EFCAB7 gene

Genomic Views
for EFCAB7 gene

Proteins
for EFCAB7 gene

Protein Domains /
Families
for EFCAB7 gene

Function
for EFCAB7 gene

Pathways & Interactions
for EFCAB7 gene

Drugs & Compounds
for EFCAB7 gene

Transcripts
for EFCAB7 gene

Expression
for EFCAB7 gene

Orthologs
for EFCAB7 gene

Paralogs
for EFCAB7 gene

Genomic Variants
for EFCAB7 gene

Disorders / Diseases
for EFCAB7 gene

Publications
for EFCAB7 gene

Intellectual Property
for EFCAB7 gene

Products
for EFCAB7 gene