Aliases for FCHSD2 Gene
Aliases for FCHSD2 Gene
External Ids for FCHSD2 Gene
- HGNC: 29114
- Entrez Gene: 9873
- Ensembl: ENSG00000137478
- UniProtKB: O94868
Previous HGNC Symbols for FCHSD2 Gene
- SH3MD3
Previous GeneCards Identifiers for FCHSD2 Gene
- GC11M072275
- GC11M072225
- GC11M072547
- GC11M068842
Summaries for FCHSD2 Gene
GeneCards Summary for FCHSD2 Gene
FCHSD2 (FCH And Double SH3 Domains 2) is a Protein Coding gene. Diseases associated with FCHSD2 include Deafness, Autosomal Recessive 63. An important paralog of this gene is FCHSD1.
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FCHSD2 Gene
Genomics for FCHSD2 Gene
Regulatory Elements for FCHSD2 Gene
Enhancers for FCHSD2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FCHSD2 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for FCHSD2 Gene
- Chromosome:
- 11
- Start:
- 72,836,743 bp from pter
- End:
- 73,142,454 bp from pter
- Size:
- 305,712 bases
- Orientation:
- Minus strand
Genomic View for FCHSD2 Gene
Genes around FCHSD2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q13.4 by Ensembl
- 11q13.4 by Entrez Gene
- 11q13.4 by HGNC
FCHSD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FCHSD2 Gene
Proteins for FCHSD2 Gene
-
Protein details for FCHSD2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O94868-FCSD2_HUMAN
- Recommended name:
- F-BAR and double SH3 domains protein 2
- Protein Accession:
- O94868
- B4DNI3
- Q7L8J9
- Q8WVM2
- Q96FV7
- Q9UF77
Protein attributes for FCHSD2 Gene
- Size:
- 740 amino acids
- Molecular mass:
- 84276 Da
- Quaternary structure:
-
- Interacts with CASK and MAGI1. CASK inhibits interaction with MAGI1.
- SequenceCaution:
-
- Sequence=BAA34489.2; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for FCHSD2 Gene
Post-translational modifications for FCHSD2 Gene
Other Protein References for FCHSD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FCHSD2
-
Abcam antibodies for FCHSD2
- Invitrogen Antibodies for FCHSD2
- GeneTex FCHSD2 antibody for FCHSD2
Protein Products
-
OriGene Purified Proteins for FCHSD2
- Search Origene for MassSpec and Protein Over-expression Lysates for FCHSD2
- Origene Custom Protein Services for FCHSD2
- Search GeneTex for Proteins for FCHSD2
-
Abcam proteins for FCHSD2
Assay Products
No data available for DME Specific Peptides for FCHSD2 Gene
Domains & Families for FCHSD2 Gene
Gene Families for FCHSD2 Gene
Protein Domains for FCHSD2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for FCHSD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FCHSD2 Gene
Function for FCHSD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 14627983 |
Phenotypes for FCHSD2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FCHSD2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FCHSD2 gene
- Search ViGene Biosciences for FCHSD2
CRISPR Products
-
OriGene CRISPR knockouts for FCHSD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FCHSD2
- GenScript: Design CRISPR guide RNA sequences for FCHSD2
miRNA for FCHSD2 Gene
- miRTarBase miRNAs that target FCHSD2
-
- hsa-mir-124-3p (MIRT023044)
- hsa-mir-7159-3p (MIRT060652)
- hsa-mir-4668-5p (MIRT131512)
- hsa-mir-210-3p (MIRT440647)
- hsa-mir-548o-3p (MIRT567582)
- hsa-mir-1323 (MIRT567583)
- hsa-mir-4272 (MIRT567584)
- hsa-mir-3613-3p (MIRT567585)
- hsa-mir-6074 (MIRT567586)
- hsa-mir-3622a-5p (MIRT567587)
- hsa-mir-548an (MIRT567588)
- hsa-mir-4482-3p (MIRT658152)
- hsa-mir-4474-5p (MIRT658153)
- hsa-mir-4662a-5p (MIRT658154)
- hsa-mir-6791-3p (MIRT658155)
- hsa-mir-6829-3p (MIRT658156)
- hsa-mir-449b-3p (MIRT658157)
- hsa-mir-27b-3p (MIRT727659)
- hsa-mir-27a-3p (MIRT727661)
miRNA Products
- Search ViGene Biosciences for FCHSD2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FCHSD2
- Browse OriGene Inhibitory RNA Products For FCHSD2
-
ViGene Biosciences ready-to-package AAV shRNAs for FCHSD2 gene
Cell Line Products
-
Horizon Cell Lines for FCHSD2
-
ViGene Biosciences adenoviral particle packaged cDNA for FCHSD2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FCHSD2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FCHSD2 gene
Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FCHSD2 Gene
Localization for FCHSD2 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| endosome | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0031594 | neuromuscular junction | IBA | -- |
| GO:0055037 | recycling endosome | IBA | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for FCHSD2 Gene
Pathways & Interactions for FCHSD2 Gene
No Data Available
Interacting Proteins for FCHSD2 Gene
Selected Interacting proteins:
O94868-FCSD2_HUMAN
ENSP00000386722
for FCHSD2 Gene via
MINT
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007274 | neuromuscular synaptic transmission | IBA | -- |
| GO:0030833 | regulation of actin filament polymerization | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for FCHSD2 Gene
Transcripts for FCHSD2 Gene
mRNA/cDNA for FCHSD2 Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (167) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FCHSD2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for FCHSD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for FCHSD2
- GenScript: Design CRISPR guide RNA sequences for FCHSD2
miRNA Products
- Search ViGene Biosciences for FCHSD2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FCHSD2
- Browse OriGene Inhibitory RNA Products For FCHSD2
-
ViGene Biosciences ready-to-package AAV shRNAs for FCHSD2 gene
Flow Cytometry Products
Expression for FCHSD2 Gene
This gene is overexpressed in Lymph node (24.4), Blymphocyte (22.5), and Peripheral blood mononuclear cells (9.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FCHSD2 Gene
NURSA nuclear receptor signaling pathways regulating expression of FCHSD2 Gene:
FCHSD2SOURCE GeneReport for Unigene cluster for FCHSD2 Gene:
Hs.744959mRNA Expression by UniProt/SwissProt for FCHSD2 Gene:
O94868-FCSD2_HUMAN
Tissue specificity:
Liver, brain, heart, placenta, skeletal muscle, pancreas, lung and kidney.
Evidence on tissue expression from TISSUES for FCHSD2 Gene
- Nervous system(4.6)
- Bone marrow(4.3)
- Lung(4.3)
- Kidney(4.2)
Primer Products
-
OriGene qPCR primer pairs for FCHSD2
-
OriGene qPCR primer pairs and template standards for FCHSD2
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for FCHSD2 Gene
Orthologs for FCHSD2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FCHSD2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | FCHSD2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | FCHSD2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Fchsd2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Fchsd2 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | FCHSD2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | FCHSD2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | FCHSD2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | FCHSD2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | fchsd2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | CABZ01070631.1 35 |
|
OneToMany | |
| FCHSD2 (4 of 5) 35 |
|
OneToMany | |||
| FCHSD2 (3 of 5) 35 |
|
OneToMany | |||
| LOC100536596 34 |
|
||||
| CU570791.5 35 |
|
OneToMany | |||
| FCHSD2 (5 of 5) 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | nwk 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006774 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10491 35 |
|
OneToMany |
- Species where no ortholog for FCHSD2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for FCHSD2 Gene
(4) SIMAP similar genes for FCHSD2 Gene using alignment to 7 proteins:
Variants for FCHSD2 Gene
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000016894 | -- | 72,928,986(+) | TTTGT(C/T)CTTGC | intron-variant | |
| rs1000031260 | -- | 73,027,820(+) | TGCTC(C/T)AGCTC | intron-variant | |
| rs1000037748 | -- | 72,946,192(+) | ACATA(C/T)ACACC | intron-variant | |
| rs1000074853 | -- | 72,887,130(+) | GGAGA(G/T)ATATA | intron-variant | |
| rs1000076386 | -- | 73,076,564(+) | CAGCC(A/G)CAGGA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2422418 | CNV | duplication | 17116639 |
| esv3626807 | CNV | loss | 21293372 |
| esv3626808 | CNV | loss | 21293372 |
| nsv1144576 | CNV | deletion | 24896259 |
| nsv386 | CNV | deletion | 18451855 |
| nsv555411 | CNV | loss | 21841781 |
| nsv951040 | CNV | duplication | 24416366 |
| nsv983042 | CNV | duplication | 23825009 |
Residual Variation Intolerance Score:
18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.20;
39.76% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FCHSD2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FCHSD2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FCHSD2 Gene
Disorders for FCHSD2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 63 |
|
|
Search FCHSD2 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for FCHSD2
No data available for UniProtKB/Swiss-Prot and Genatlas for FCHSD2 Gene
Publications for FCHSD2 Gene
- Identification and characterization of human FCHSD1 and FCHSD2 genes in silico. (PMID: 15067381) Katoh M. … Katoh M. (Int. J. Mol. Med. 2004) 2 3 4 22 64
- Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 64
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
- Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor T.D. … Sakaki Y. (Nature 2006) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
Products for FCHSD2 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
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- Browse Proteome Profiler Antibody Arrays
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- Custom Antibody Services
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- Custom Assay Services
- OriGene Purified Proteins for FCHSD2
- Search Origene for MassSpec and Protein Over-expression Lysates for FCHSD2
- Origene Custom Protein Services for FCHSD2
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for FCHSD2
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- OriGene qPCR primer pairs and template standards for FCHSD2
- OriGene qPCR primer pairs for FCHSD2
- OriGene CRISPR knockouts for FCHSD2
- OriGene ORF clones in human for FCHSD2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- GenScript: Next-day shipping cDNA ORF clone for FCHSD2 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for FCHSD2
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- GenScript Custom overexpressing Cell Line Services for FCHSD2
- GenScript: Design CRISPR guide RNA sequences for FCHSD2
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- 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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- Novus Biologicals Antibodies for FCHSD2
- Novus Biologicals proteins and lysates for FCHSD2
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for FCHSD2
- Abcam proteins for FCHSD2
- Search for Assays for FCHSD2 at Abcam
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- ViGene Biosciences adenoviral particle packaged cDNA for FCHSD2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for FCHSD2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for FCHSD2 gene
- Search ViGene Biosciences for FCHSD2
- Horizon Cell Lines for FCHSD2
- Cyagen custom Knockout/knockin (KOKI) mouse models for FCHSD2
- VectorBuilder custom plasmid, inducible vectors for FCHSD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for FCHSD2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FCHSD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer