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

Aliases for FAM49A Gene

Aliases for FAM49A Gene

  • Family With Sequence Similarity 49 Member A 2 3 5
  • Family With Sequence Similarity 49, Member A 2

External Ids for FAM49A Gene

Previous GeneCards Identifiers for FAM49A Gene

  • GC02M016653
  • GC02M016505

Summaries for FAM49A Gene

GeneCards Summary for FAM49A Gene

FAM49A (Family With Sequence Similarity 49 Member A) is a Protein Coding gene. An important paralog of this gene is FAM49B.

Gene Wiki entry for FAM49A Gene

Additional gene information for FAM49A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM49A Gene

Genomics for FAM49A Gene

Regulatory Elements for FAM49A Gene

Enhancers for FAM49A 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
GH02H016649 1.9 FANTOM5 Ensembl ENCODE dbSUPER 28 +12.0 11989 9 HDGF PKNOX1 YBX1 ZNF766 ZNF207 FOS ATF7 RUNX3 JUNB ZNF592 FAM49A ENSG00000279663
GH02H016662 1.5 FANTOM5 ENCODE dbSUPER 28.4 +1.6 1598 4 HDGF PKNOX1 BMI1 ZBTB40 BATF SCRT2 RCOR1 IKZF2 JUNB ELF1 FAM49A ENSG00000279663
GH02H016619 1.8 FANTOM5 Ensembl ENCODE dbSUPER 22.9 +38.8 38768 15 HDGF PKNOX1 ATF1 ZNF766 GATA2 ELK1 FOS ATF7 RUNX3 NCOA1 FAM49A ENSG00000279663
GH02H016644 1 ENCODE dbSUPER 18.7 +21.9 21904 0 ZNF639 BHLHE40 MAFG BACH1 JUNB BATF FOSL1 ZNF316 FOXK2 BCL11A FAM49A ENSG00000279663
GH02H016715 1 ENCODE dbSUPER 17.4 -51.0 -51044 3 HDAC1 PKNOX1 ATF1 NFIB CEBPG ZIC2 GATA3 MTA3 CTBP1 EGR1 FAM49A PIR44604
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM49A on UCSC Golden Path with GeneCards custom track

Promoters for FAM49A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000113341 731 1201 HDGF ZNF639 MTA2 EBF1 ZBTB40 POLR2A IKZF1 KLF9 NBN EZH2

Genomic Location for FAM49A Gene

Chromosome:
2
Start:
16,549,459 bp from pter
End:
16,666,331 bp from pter
Size:
116,873 bases
Orientation:
Minus strand

Genomic View for FAM49A Gene

Genes around FAM49A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM49A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM49A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM49A Gene

Proteins for FAM49A Gene

  • Protein details for FAM49A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H0Q0-FA49A_HUMAN
    Recommended name:
    Protein FAM49A
    Protein Accession:
    Q9H0Q0
    Secondary Accessions:
    • B3KNZ1
    • Q53QW2

    Protein attributes for FAM49A Gene

    Size:
    323 amino acids
    Molecular mass:
    37313 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM49A Gene

Post-translational modifications for FAM49A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM49A Gene

No data available for DME Specific Peptides for FAM49A Gene

Domains & Families for FAM49A Gene

Gene Families for FAM49A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM49A Gene

Suggested Antigen Peptide Sequences for FAM49A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H0Q0

UniProtKB/Swiss-Prot:

FA49A_HUMAN :
  • Belongs to the FAM49 family.
Family:
  • Belongs to the FAM49 family.
genes like me logo Genes that share domains with FAM49A: view

Function for FAM49A Gene

Phenotypes From GWAS Catalog for FAM49A Gene

genes like me logo Genes that share phenotypes with FAM49A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM49A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM49A Gene

Localization for FAM49A Gene

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 FAM49A gene
Compartment Confidence
cytosol 2
cytoskeleton 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FAM49A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
genes like me logo Genes that share ontologies with FAM49A: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM49A Gene

Pathways & Interactions for FAM49A Gene

SuperPathways for FAM49A Gene

No Data Available

Interacting Proteins for FAM49A Gene

Gene Ontology (GO) - Biological Process for FAM49A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM49A Gene

Drugs & Compounds for FAM49A Gene

No Compound Related Data Available

Transcripts for FAM49A Gene

Unigene Clusters for FAM49A Gene

Family with sequence similarity 49, member A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM49A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for FAM49A Gene

No ASD Table

Relevant External Links for FAM49A Gene

GeneLoc Exon Structure for
FAM49A
ECgene alternative splicing isoforms for
FAM49A

Expression for FAM49A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM49A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM49A Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.6), Brain - Anterior cingulate cortex (BA24) (x4.3), and Whole Blood (x4.1).

Protein differential expression in normal tissues from HIPED for FAM49A Gene

This gene is overexpressed in Bone (43.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM49A Gene



Protein tissue co-expression partners for FAM49A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM49A Gene:

FAM49A

SOURCE GeneReport for Unigene cluster for FAM49A Gene:

Hs.467769

Evidence on tissue expression from TISSUES for FAM49A Gene

  • Nervous system(5)
  • Kidney(4.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with FAM49A: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM49A Gene

Orthologs for FAM49A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM49A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM49A 33 34
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM49A 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM49A 33 34
  • 93.7 (n)
cow
(Bos Taurus)
Mammalia FAM49A 33 34
  • 92.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM49A 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam49a 33
  • 91.02 (n)
mouse
(Mus musculus)
Mammalia Fam49a 33 16 34
  • 90.3 (n)
chicken
(Gallus gallus)
Aves FAM49A 33 34
  • 83.08 (n)
lizard
(Anolis carolinensis)
Reptilia FAM49A 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam49a 33
  • 81.42 (n)
Str.9897 33
zebrafish
(Danio rerio)
Actinopterygii znf395 33 34 34
  • 77.71 (n)
sbcb866 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12282 33
fruit fly
(Drosophila melanogaster)
Insecta CG32066 34
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R07G3.8 33 34
  • 47.57 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 56 (a)
OneToMany
Species where no ortholog for FAM49A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)

Evolution for FAM49A Gene

ENSEMBL:
Gene Tree for FAM49A (if available)
TreeFam:
Gene Tree for FAM49A (if available)

Paralogs for FAM49A Gene

Paralogs for FAM49A Gene

(4) SIMAP similar genes for FAM49A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FAM49A: view

Variants for FAM49A Gene

Sequence variations from dbSNP and Humsavar for FAM49A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000006315 -- 16,600,609(+) CATAA(A/G)TACTC intron-variant
rs1000022390 -- 16,662,698(+) TGATG(C/T)GTGGC intron-variant
rs1000047528 -- 16,622,148(+) CAAAT(C/G)AATTG intron-variant
rs1000053382 -- 16,662,381(+) TTTAA(A/G)TCTTA intron-variant
rs1000117408 -- 16,620,806(+) TCCCC(A/G)AGGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM49A Gene

Variant ID Type Subtype PubMed ID
esv23923 CNV loss 19812545
esv34115 CNV loss 18971310
esv3589930 CNV loss 21293372
esv3589931 CNV loss 21293372
nsv1008261 CNV gain 25217958
nsv2622 CNV insertion 18451855
nsv506999 OTHER sequence alteration 20534489

Variation tolerance for FAM49A Gene

Residual Variation Intolerance Score: 25.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.07; 1.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM49A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM49A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM49A Gene

Disorders for FAM49A Gene

Relevant External Links for FAM49A

Genetic Association Database (GAD)
FAM49A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM49A

No disorders were found for FAM49A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM49A Gene

Publications for FAM49A Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. 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 60
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for FAM49A Gene

Sources for FAM49A Gene

Content
Loading form....