Aliases for FAM9A Gene
Aliases for FAM9A Gene
External Ids for FAM9A Gene
- HGNC: 18403
- Entrez Gene: 171482
- Ensembl: ENSG00000183304
- OMIM: 300477
- UniProtKB: Q8IZU1
Previous GeneCards Identifiers for FAM9A Gene
- GC0XU990384
- GC0XM008105
- GC0XM008170
- GC0XM008568
- GC0XM008718
- GC0XM006586
Summaries for FAM9A Gene
-
This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be a nuclear protein that is localized to the nucleolus, and has some similarity to a synaptonemal complex protein. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Aug 2011]
GeneCards Summary for FAM9A Gene
FAM9A (Family With Sequence Similarity 9 Member A) is a Protein Coding gene. An important paralog of this gene is FAM9B.
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM9A Gene
Genomics for FAM9A Gene
Regulatory Elements for FAM9A Gene
Enhancers for FAM9A Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH0XG008927 | 0.3 | FANTOM5 | 3.5 | -125.9 | -125946 | 0.4 | FAM9A FAM9B LOC105373125 LOC392426 | |
| GH0XG008846 | 0.8 | dbSUPER | 0.2 | -48.3 | -48305 | 6.1 | CTCF FOXA2 TAF1 JUN ZSCAN4 MAX BRCA1 RAD21 GTF3C2 NCOR1 | ANOS1 PNPLA4 LOC100128808 FAM9A |
| GH0XG008856 | 0.2 | dbSUPER | 0.2 | -55.5 | -55537 | 1.4 | PNPLA4 LOC100128808 FAM9A |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around FAM9A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the FAM9A gene promoter:
Regulatory Element Products
Genomic Location for FAM9A Gene
- Chromosome:
- X
- Start:
- 8,790,774 bp from pter
- End:
- 8,801,383 bp from pter
- Size:
- 10,610 bases
- Orientation:
- Minus strand
Genomic View for FAM9A Gene
Genes around FAM9A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- Xp22.31 by Ensembl
- Xp22.31 by Entrez Gene
- Xp22.31 by HGNC
FAM9A 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 FAM9A Gene
Proteins for FAM9A Gene
-
Protein details for FAM9A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IZU1-FAM9A_HUMAN
- Recommended name:
- Protein FAM9A
- Protein Accession:
- Q8IZU1
- B7ZLH5
- Q2M2D1
Protein attributes for FAM9A Gene
- Size:
- 332 amino acids
- Molecular mass:
- 37339 Da
- Quaternary structure:
- No Data Available
Protein Expression for FAM9A Gene
Post-translational modifications for FAM9A Gene
No Post-translational modifications
Other Protein References for FAM9A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for FAM9A
-
Abcam antibodies for FAM9A
- Invitrogen Antibodies for FAM9A
- Search GeneTex for Antibodies for FAM9A
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FAM9A
- Origene Custom Protein Services for FAM9A
- Novus Biologicals proteins for FAM9A
- Search GeneTex for Proteins for FAM9A
Assay Products
No data available for DME Specific Peptides for FAM9A Gene
Domains & Families for FAM9A Gene
Protein Domains for FAM9A Gene
- ProtoNet:
Suggested Antigen Peptide Sequences for FAM9A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8IZU1- Family:
-
- Belongs to the FAM9 family.
No data available for Gene Families for FAM9A Gene
Function for FAM9A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 23455924 |
Phenotypes for FAM9A Gene
- GenomeRNAi human phenotypes for FAM9A:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for FAM9A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FAM9A gene
- Search ViGene Biosciences for FAM9A
CRISPR Products
-
OriGene CRISPR knockouts for FAM9A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM9A
- GenScript: Design CRISPR guide RNA sequences for FAM9A
miRNA Products
- Search ViGene Biosciences for FAM9A
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FAM9A
- Browse OriGene Inhibitory RNA Products For FAM9A
-
ViGene Biosciences ready-to-package AAV shRNAs for FAM9A gene
Cell Line Products
-
Horizon Cell Lines for FAM9A
-
ViGene Biosciences adenoviral particle packaged cDNA for FAM9A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for FAM9A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for FAM9A gene
Flow Cytometry Products
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for FAM9A Gene
Localization for FAM9A Gene
Subcellular locations from UniProtKB/Swiss-Prot for FAM9A Gene
- Nucleus, nucleolus.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IBA | -- |
| GO:0005730 | nucleolus | IEA | -- |
Pathways & Interactions for FAM9A Gene
No Data Available
Interacting Proteins for FAM9A Gene
Selected Interacting proteins:
Q8IZU1-FAM9A_HUMAN
ENSP00000370391
for FAM9A Gene via
IID
MINT
STRING
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007286 | spermatid development | IBA | -- |
No data available for Pathways by source and SIGNOR curated interactions for FAM9A Gene
Transcripts for FAM9A Gene
mRNA/cDNA for FAM9A Gene
- (2) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (3) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for FAM9A Gene
- Family with sequence similarity 9, member A:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for FAM9A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FAM9A
- GenScript: Design CRISPR guide RNA sequences for FAM9A
miRNA Products
- Search ViGene Biosciences for FAM9A
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for FAM9A
- Browse OriGene Inhibitory RNA Products For FAM9A
-
ViGene Biosciences ready-to-package AAV shRNAs for FAM9A gene
Flow Cytometry Products
Expression for FAM9A Gene
mRNA differential expression in normal tissues according to GTEx for FAM9A Gene
This gene is overexpressed in Testis (x43.5) and Liver (x4.6).
This gene is overexpressed in Testis (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FAM9A Gene
NURSA nuclear receptor signaling pathways regulating expression of FAM9A Gene:
FAM9ASOURCE GeneReport for Unigene cluster for FAM9A Gene:
Hs.382062mRNA Expression by UniProt/SwissProt for FAM9A Gene:
Q8IZU1-FAM9A_HUMAN
Tissue specificity:
Expressed exclusively in testis.
Primer Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM9A Gene
Orthologs for FAM9A Gene
No data available for Orthologs for FAM9A Gene
Paralogs for FAM9A Gene
(1) SIMAP similar genes for FAM9A Gene using alignment to 1 proteins:
Pseudogenes.org Pseudogenes for FAM9A Gene
Variants for FAM9A Gene
| SNP ID | Clin | Chr 0X pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000934069 | -- | 8,801,572(+) | TGGGG(C/T)CTCTG | upstream-variant-2KB | |
| rs1001386431 | -- | 8,801,958(+) | TACAG(C/G)TGCGT | upstream-variant-2KB | |
| rs1001433596 | -- | 8,796,673(+) | GTTAC(A/G)AACAC | intron-variant | |
| rs1001607164 | -- | 8,797,241(+) | AGAAG(A/G)GCTGA | intron-variant | |
| rs1003060175 | -- | 8,791,942(+) | GACAT(G/T)AGCAA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2752339 | CNV | gain | 17911159 |
Residual Variation Intolerance Score:
80.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.50;
55.32% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for FAM9A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- FAM9A
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM9A Gene
Disorders for FAM9A Gene
Relevant External Links for FAM9A
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- FAM9A
No disorders were found for FAM9A Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM9A Gene
Publications for FAM9A Gene
- A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region. (PMID: 12213195) Martinez-Garay I. … Kutsche K. (Genomics 2002) 2 3 4 22 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
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
- The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 3 64
- A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M. … Stelzl U. (Nat. Methods 2013) 3 64
Products for FAM9A Gene
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- Novus Biologicals Antibodies for FAM9A
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- Mammalian expression: PiggyBac
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- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for FAM9A 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
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- (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
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- (92) Vector BioLabs
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- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
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- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
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- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
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- (155) Gene ORGANizer