Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FAM96A Gene

Aliases for FAM96A Gene

  • Family With Sequence Similarity 96 Member A 2 3 5
  • Family With Sequence Similarity 96, Member A 2
  • MIP18 Family Protein FAM96A 3
  • CIA2A 3

External Ids for FAM96A Gene

Previous GeneCards Identifiers for FAM96A Gene

  • GC15M062152
  • GC15M064364
  • GC15M041189

Summaries for FAM96A Gene

GeneCards Summary for FAM96A Gene

FAM96A (Family With Sequence Similarity 96 Member A) is a Protein Coding gene. An important paralog of this gene is FAM96B.

UniProtKB/Swiss-Prot for FAM96A Gene

  • May play a role in chromosome segregation through establishment of sister chromatid cohesion.

Additional gene information for FAM96A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM96A Gene

Genomics for FAM96A Gene

GeneHancer (GH) Regulatory Elements for FAM96A Gene

Promoters and enhancers for FAM96A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I064092 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558.1 -1.4 -1408 6.5 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D SNX1 FAM96A TRIP4 CSNK1G1 USP3 ENSG00000264937 USP3-AS1 SNX22 ZNF609 ENSG00000259635
GH15I064069 Enhancer 1.4 Ensembl ENCODE dbSUPER 19 +22.6 22585 4.1 FOXA2 MLX ARID4B YY1 SLC30A9 ZNF766 ZNF143 FOS SP5 REST DAPK2 TRIP4 ZNF609 SNX1 ENSG00000264937 FAM96A SNX22 ENSG00000265967 HERC1 USP3
GH15I064104 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 8.2 -11.4 -11383 1.2 MEIS2 PKNOX1 FOXA2 MAX CEBPG E4F1 YY1 ZNF316 ADNP NFE2 SNX22 PPIB DAPK2 FBXL22 ENSG00000252774 FAM96A SNX1 ENSG00000201071 GC15M064112
GH15I064110 Enhancer 1.2 Ensembl ENCODE dbSUPER 7.8 -18.1 -18116 3.7 HDAC1 FOXA2 ARID4B RAD21 ETS1 ETV6 RXRA MAFF PRDM6 CEBPA ENSG00000201071 GC15M064112 TRIP4 SNX22 PPIB DAPK2 FBXL22 ENSG00000252774 SNX1 FAM96A
GH15I064114 Enhancer 0.6 dbSUPER 11.8 -31.2 -31157 20.7 NFIB FEZF1 ATF2 NR2F2 YY1 ZNF121 ZNF316 POLR2A ATF7 TRIP4 SNX22 SNX1 DAPK2 PPIB FAM96A ENSG00000252774 PIF1 SPG21 GC15M064112
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM96A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM96A gene promoter:

Genomic Locations for FAM96A Gene

Genomic Locations for FAM96A Gene
chr15:64,072,559-64,094,018
(GRCh38/hg38)
Size:
21,460 bases
Orientation:
Minus strand
chr15:64,364,758-64,386,217
(GRCh37/hg19)

Genomic View for FAM96A Gene

Genes around FAM96A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM96A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM96A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM96A Gene

Proteins for FAM96A Gene

  • Protein details for FAM96A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H5X1-FA96A_HUMAN
    Recommended name:
    MIP18 family protein FAM96A
    Protein Accession:
    Q9H5X1
    Secondary Accessions:
    • A6NKS1
    • B2R5F8
    • B7Z8Z5

    Protein attributes for FAM96A Gene

    Size:
    160 amino acids
    Molecular mass:
    18355 Da
    Quaternary structure:
    • Monomer and homodimer. Interacts with CIAO1.

    Three dimensional structures from OCA and Proteopedia for FAM96A Gene

    Alternative splice isoforms for FAM96A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM96A Gene

Post-translational modifications for FAM96A Gene

No Post-translational modifications

Other Protein References for FAM96A Gene

No data available for DME Specific Peptides for FAM96A Gene

Domains & Families for FAM96A Gene

Gene Families for FAM96A Gene

Protein Domains for FAM96A Gene

Suggested Antigen Peptide Sequences for FAM96A Gene

Graphical View of Domain Structure for InterPro Entry

Q9H5X1

UniProtKB/Swiss-Prot:

FA96A_HUMAN :
  • Belongs to the MIP18 family.
Family:
  • Belongs to the MIP18 family.
genes like me logo Genes that share domains with FAM96A: view

Function for FAM96A Gene

Molecular function for FAM96A Gene

UniProtKB/Swiss-Prot Function:
May play a role in chromosome segregation through establishment of sister chromatid cohesion.

Phenotypes From GWAS Catalog for FAM96A Gene

Gene Ontology (GO) - Molecular Function for FAM96A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 16189514
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FAM96A: view
genes like me logo Genes that share phenotypes with FAM96A: view

Animal Models for FAM96A Gene

MGI Knock Outs for FAM96A:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM96A Gene

Localization for FAM96A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM96A Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM96A gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 2
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM96A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with FAM96A: view

Pathways & Interactions for FAM96A Gene

SuperPathways for FAM96A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM96A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007059 chromosome segregation IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FAM96A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM96A Gene

Drugs & Compounds for FAM96A Gene

No Compound Related Data Available

Transcripts for FAM96A Gene

Unigene Clusters for FAM96A Gene

Family with sequence similarity 96, member A:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM96A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: - -
SP2: -
SP3: - - -
SP4: -

Relevant External Links for FAM96A Gene

GeneLoc Exon Structure for
FAM96A
ECgene alternative splicing isoforms for
FAM96A

Expression for FAM96A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM96A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM96A Gene

This gene is overexpressed in Liver (x5.5).

Protein differential expression in normal tissues from HIPED for FAM96A Gene

This gene is overexpressed in Bone (12.9) and Peripheral blood mononuclear cells (11.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM96A Gene



Protein tissue co-expression partners for FAM96A Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM96A Gene:

FAM96A

SOURCE GeneReport for Unigene cluster for FAM96A Gene:

Hs.439548

mRNA Expression by UniProt/SwissProt for FAM96A Gene:

Q9H5X1-FA96A_HUMAN
Tissue specificity: Substantially enriched in macrophages.

Evidence on tissue expression from TISSUES for FAM96A Gene

  • Nervous system(4.5)
  • Liver(2)
genes like me logo Genes that share expression patterns with FAM96A: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM96A Gene

Orthologs for FAM96A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FAM96A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM96A 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia FAM96A 34 33
  • 95.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM96A 34 33
  • 94.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM96A 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam96a 16 34 33
  • 91.04 (n)
rat
(Rattus norvegicus)
Mammalia Fam96a 33
  • 91.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM96A 34
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM96A 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM96A 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489623 33
  • 72.19 (n)
Str.16699 33
zebrafish
(Danio rerio)
Actinopterygii FAM96A 34
  • 93 (a)
OneToOne
zgc:73185 33
  • 71.15 (n)
wufc15d04 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007363 33
  • 60.06 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30152 33 34
  • 57.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 27 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G50845 33
  • 60.06 (n)
rice
(Oryza sativa)
Liliopsida Os03g0775500 33
  • 54.82 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 55 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7628 33
Species where no ortholog for FAM96A 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM96A Gene

ENSEMBL:
Gene Tree for FAM96A (if available)
TreeFam:
Gene Tree for FAM96A (if available)

Paralogs for FAM96A Gene

Paralogs for FAM96A Gene

(10) SIMAP similar genes for FAM96A Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for FAM96A Gene

genes like me logo Genes that share paralogs with FAM96A: view

Variants for FAM96A Gene

Sequence variations from dbSNP and Humsavar for FAM96A Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000007428 -- 64,091,126(-) G/A intron_variant
rs1000038584 -- 64,090,860(-) A/G intron_variant
rs1000061445 -- 64,083,642(-) A/G intron_variant
rs1000113486 -- 64,083,461(-) T/C intron_variant
rs1000113517 -- 64,090,603(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM96A Gene

Variant ID Type Subtype PubMed ID
esv2667267 CNV deletion 23128226
nsv1122974 CNV deletion 24896259
nsv1131193 CNV deletion 24896259
nsv1569 CNV deletion 18451855
nsv833036 CNV loss 17160897

Variation tolerance for FAM96A Gene

Residual Variation Intolerance Score: 36.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.20; 4.44% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM96A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM96A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM96A Gene

Disorders for FAM96A Gene

Additional Disease Information for FAM96A

No disorders were found for FAM96A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM96A Gene

Publications for FAM96A Gene

  1. FAM96A is a novel pro-apoptotic tumor suppressor in gastrointestinal stromal tumors. (PMID: 25716227) Schwamb B … Zörnig M (International journal of cancer 2015) 2 3 58
  2. Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins. (PMID: 23891004) Stehling O … Lill R (Cell metabolism 2013) 2 3 58
  3. The mammalian DUF59 protein Fam96a forms two distinct types of domain-swapped dimer. (PMID: 22683786) Chen KE … Martin JL (Acta crystallographica. Section D, Biological crystallography 2012) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for FAM96A Gene

Sources for FAM96A Gene

Content
Loading form....