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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

FHDC1 Gene

protein-coding GIFtS: 41
GCID: GC04P153864

FH2 domain containing 1

Explore 2 diseases affiliated with
FHDC1 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
FH2 Domain Containing 1¹ ²
KIAA1727¹ ³
FH2 Domain-Containing Protein 1²

External Ids:	HGNC: 29363¹	Entrez Gene: 85462²	Ensembl: ENSG00000137460⁷	UniProtKB: Q9C0D6³

Export aliases for FHDC1 gene to outside databases

Previous GC identifers: GC04P154084 GC04P149590

(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_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the FHDC1 gene promoter:
STAT5B C/EBPbeta Pax-6 CUTL1 RORalpha2 PPAR-gamma1 POU2F1 POU2F1a c-Myb PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: FHDC1 promoter sequence

Search SABiosciences Chromatin IP Primers for FHDC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FHDC1

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

Entrez Gene cytogenetic band: 4q31.3 Ensembl cytogenetic band: 4q31.3 HGNC cytogenetic band: 4q31.3

FHDC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FHDC1 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P153864: view genomic region (about GC identifiers)

Start:	153,857,504 bp from pter	End:	153,900,848 bp from pter
Size:	43,345 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,
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: FHDC1_HUMAN, Q9C0D6 (See protein sequence)

Recommended Name: FH2 domain-containing protein 1

Size: 1143 amino acids; 124762 Da

Explore the universe of human proteins at neXtProt for FHDC1: NX_Q9C0D6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9C0D6

FHDC1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_203751.2

ENSEMBL proteins:

ENSP00000427567 ENSP00000260008

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

FHDC1 for domains About GeneDecksing

2 InterPro domains/families:

IPR015425 FH2_actin-bd

IPR003104 Actin-bd_FH2/DRF_autoreg

Graphical View of Domain Structure for InterPro Entry Q9C0D6

ProtoNet protein and cluster: Q9C0D6

1 Blocks protein family: IPB003104 Actin-binding FH2

UniProtKB/Swiss-Prot: FHDC1_HUMAN, Q9C0D6

Similarity: Contains 1 FH2 (formin homology 2) 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

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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:0003779	actin binding	IEA	--

FHDC1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for FHDC1:

Increased G1 DNA content

(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 FHDC1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0030036	actin cytoskeleton organization	IEA	--

FHDC1 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

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Browse Tocris compounds for FHDC1
Search CenterWatch for drugs/clinical trials and news about FHDC1

(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 FHDC1 gene:

NM_033393.2

Unigene Cluster for FHDC1:

FH2 domain containing 1

Hs.132629 [show with all ESTs]

Unigene Representative Sequence: NM_033393

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

ENST00000511601 ENST00000260008(uc003inf.2)

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Additional cDNA sequence:

AB051514.1 AK172734.1

2 DOTS entries:

DT.95266294 DT.92051745

24/85 AceView cDNA sequences (see all 85):

AI421235 N58039 AA908252 AI143847 AI202042 NM_033393 AA342086 W80711

AL706590 H79700 BF001169 AI444952 AA884790 AA862317 AW069784 AA676541

AA774498 AI278683 AI299109 W68234 AI192236 BU680689 AI151527 BF594128

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

FHDC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAGTTTAATA

About this image

FHDC1 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: 5 LifeMap Cells

Name

Category

PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)

Intermediate Mesoderm, Kidney

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ progenitor E69 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

Extraembryonic endoderm-like cells (Generation of extrae...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See FHDC1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FHDC1

SOURCE GeneReport for Unigene cluster: Hs.132629

SABiosciences Custom PCR Arrays for FHDC1

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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 eukaryotes.

Orthologs for FHDC1 gene from 7/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	FHDC1¹	FH2 domain containing 1	60.32(n) 55.1(a)		422484 XM_420449.3 XP_420449.2
lizard (Anolis carolinensis)	Reptilia	FHDC1⁶	--	50(a)	1 ↔ 1	5(131355515-131392738)
zebrafish (Danio rerio)	Actinopterygii	57063400²	--	75(n)		57063400
fruit fly (Drosophila melanogaster)	Insecta	form3⁶	formin 3	15(a)	possible ortholog	3L(7087918-7116397)
worm (Caenorhabditis elegans)	Secernentea	inft-1⁶	--	14(a)	1 → many	III(1103214-1112288)
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G25050⁶ AT5G58160⁶ (see all 21)	formin-like protein 13 (see all 21)	9(a) 8(a) (see all 21)	possible ortholog possible ortholog (see all 21)	2(10653709-10660226) 5(23533701-23539465)
rice (Oryza sativa)	Liliopsida	-- -- (see all 20)	retrotransposon protein, putative, unclassified (see all 20)	7(a) 6(a) (see all 20)	possible ortholog possible ortholog (see all 20)	6(4223296-4227007) 4(9372900-9383400)

ENSEMBL Gene Tree for FHDC1 (if available)
TreeFam Gene Tree for FHDC1 (if available)

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

Paralogs for FHDC1 gene

DIAPH1² DAAM1² FMNL3² FMNL1² DAAM2² FMNL2² INF2² GRID2IP²

FMN1² DIAPH2² DIAPH3² FMN2²

FHDC1 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 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs182880512^1,2		--	153862264(+)	`AAAGTA/GTCCAA`	1	--	us2k¹		0	--	--	--	--
rs186746849^1,2		--	153862268(+)	`TATCCA/GATTAA`	1	--	us2k¹		0	--	--	--	--
rs190749645^1,2		--	153862273(+)	`AATTAA/GTAGCT`	1	--	us2k¹		0	--	--	--	--
rs79759049^1,2	F,	--	153862350(+)	`AATATT/CTGCTT`	1	--	us2k¹		1		WA	118
rs182651528^1,2		--	153862749(+)	`GTAGCA/GGAACT`	1	--	us2k¹		0	--	--	--	--
rs186805813^1,2		--	153862775(+)	`GTCTAA/TTCCTA`	1	--	us2k¹		0	--	--	--	--
rs139656030^1,2		--	153862807(+)	`AGGCAG/TCCCTG`	1	--	us2k¹		0	--	--	--	--
rs192432400^1,2		--	153862873(+)	`AGATTA/GTTTAC`	1	--	us2k¹		0	--	--	--	--
rs183455107^1,2		--	153862932(+)	`GCTTTA/GACAGT`	1	--	us2k¹		0	--	--	--	--
rs62320604^1,2	C,F,	--	153862953(+)	`AAAGAA/TAATTA`	1	--	us2k¹		7		WA NA CSA EA	366

HapMap Linkage Disequilibrium report for FHDC1 (153857504 - 153900848 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for FHDC1: --

SABiosciences Cancer Mutation PCR Assays

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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

FHDC1 for disorders About GeneDecksing

2 diseases for FHDC1: About MalaCards

amyotrophic lateral sclerosis lateral sclerosis

Export disorders for FHDC1 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 FHDC1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with FHDC1)

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

Identification and characterization of human FHDC1, mouse Fhdc1 and zebrafish fhdc1 genes in silico. (PubMed id 15138637)^{1, 3} Katoh M. and Katoh M. (2004)
Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)^{1, 2} Nagase T.... Ohara O. (2000)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. (PubMed id 17362836)¹ Schymick J.C....Traynor B.J. (2007)
Transcriptome analysis of human gastric cancer. (PubMed id 16341674)¹ Oh J.H....Kim N.S. (2005)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)¹ Ota T.... Sugano S. (2004)
Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)¹ Hillier L.D....Marra M. (1996)

(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: 85462	HGNC: 29363	AceView: KIAA1727	Ensembl:ENSG00000137460	euGenes: HUgn85462
ECgene: FHDC1	H-InvDB: FHDC1

(According to HUGE)
About This Section

HUGE: KIAA1727

(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 FHDC1	Pharmacogenomics, SNPs, Pathways

Intellectual Property for FHDC1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for FHDC1 gene:
Search GeneIP for patents involving FHDC1

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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	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 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 FHDC1 gene at Home site.

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FHDC1 Gene

FH2 domain containing 1

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FHDC1 Gene

FH2 domain containing 1

Aliasesfor FHDC1 gene

Summariesfor FHDC1 gene

Genomic Viewsfor FHDC1 gene

Proteinsfor FHDC1 gene

Protein Domains /Familiesfor FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene

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for FHDC1 gene