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Aliases for FAM49B Gene

Aliases for FAM49B Gene

  • Family With Sequence Similarity 49 Member B 2 3 5
  • L1 3 4
  • Family With Sequence Similarity 49, Member B 2
  • Protein FAM49B 3
  • BM-009 3

External Ids for FAM49B Gene

Previous GeneCards Identifiers for FAM49B Gene

  • GC08M130922
  • GC08M126172
  • GC08M130853

Summaries for FAM49B Gene

GeneCards Summary for FAM49B Gene

FAM49B (Family With Sequence Similarity 49 Member B) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+. An important paralog of this gene is FAM49A.

Additional gene information for FAM49B Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM49B Gene

Genomics for FAM49B Gene

Regulatory Elements for FAM49B Gene

Enhancers for FAM49B 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
GH08H129970 2 FANTOM5 Ensembl ENCODE dbSUPER 12.3 +44.2 44152 4.8 HDGF ATF1 FOXA2 YBX1 ZNF121 ZNF143 FOS ATF7 RUNX3 JUNB RNU7-181P FAM49B RNU6-1255P ASAP1 GC08M129961
GH08H129991 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +20.6 20552 9.6 HDGF PKNOX1 FOXA2 ARNT SIN3A FEZF1 ZNF766 FOS ZNF592 PPARGC1A FAM49B ENSG00000253720 RNU7-181P GC08M129961
GH08H130061 1.3 Ensembl ENCODE dbSUPER 17.7 -46.5 -46477 4.1 TFAP4 FOXA2 TAL1 JUN RFX5 TEAD3 GATA3 POLR2A FOS RUNX3 FAM49B RNU7-181P ASAP1 RNU6-1255P GC08M130070
GH08H130096 1.2 Ensembl ENCODE dbSUPER 17.9 -80.2 -80233 3.5 MXI1 L3MBTL2 NFIB JUN MAX SIN3A MNT JUND ZSCAN16 FOS FAM49B RNU6-1255P RNU7-181P ASAP1 ASAP1-IT2 ENSG00000212342
GH08H129983 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +30.6 30618 6.1 SIN3A KLF17 RCOR1 ZNF548 FOS RUNX3 EGR2 SMARCC1 ZNF362 USF2 FAM49B RNU7-181P GC08M129961
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM49B on UCSC Golden Path with GeneCards custom track

Promoters for FAM49B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000230912 829 1801 HDGF PKNOX1 FOXA2 ARNT SIN3A ZNF2 ZNF766 CBX5 ZNF143 REST

Genomic Locations for FAM49B Gene

Genomic Locations for FAM49B Gene
chr8:129,839,593-130,017,129
(GRCh38/hg38)
Size:
177,537 bases
Orientation:
Minus strand
chr8:130,851,839-131,029,375
(GRCh37/hg19)

Genomic View for FAM49B Gene

Genes around FAM49B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM49B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM49B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM49B Gene

Proteins for FAM49B Gene

  • Protein details for FAM49B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUQ9-FA49B_HUMAN
    Recommended name:
    Protein FAM49B
    Protein Accession:
    Q9NUQ9
    Secondary Accessions:
    • Q96AZ5
    • Q9NW21
    • Q9NZE7

    Protein attributes for FAM49B Gene

    Size:
    324 amino acids
    Molecular mass:
    36748 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF64265.1; Type=Frameshift; Positions=65, 90, 126, 169, 172, 252, 292; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM49B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM49B Gene

Post-translational modifications for FAM49B Gene

  • Ubiquitination at isoforms=2199, isoforms=2207, posLast=213213, and posLast=317317
  • Modification sites at PhosphoSitePlus

Other Protein References for FAM49B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM49B Gene

Domains & Families for FAM49B Gene

Gene Families for FAM49B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM49B Gene

Suggested Antigen Peptide Sequences for FAM49B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NUQ9

UniProtKB/Swiss-Prot:

FA49B_HUMAN :
  • Belongs to the FAM49 family.
Family:
  • Belongs to the FAM49 family.
genes like me logo Genes that share domains with FAM49B: view

Function for FAM49B Gene

Phenotypes From GWAS Catalog for FAM49B Gene

Gene Ontology (GO) - Molecular Function for FAM49B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0023030 MHC class Ib protein binding, via antigen binding groove ISS --
genes like me logo Genes that share ontologies with FAM49B: view
genes like me logo Genes that share phenotypes with FAM49B: view

Animal Models for FAM49B Gene

MGI Knock Outs for FAM49B:

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM49B Gene

Localization for FAM49B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM49B Gene

Membrane; Lipid-anchor.

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 FAM49B gene
Compartment Confidence
extracellular 5
cytosol 3
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM49B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005929 cilium IEA --
GO:0016020 membrane IEA --
GO:0031093 platelet alpha granule lumen TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with FAM49B: view

Pathways & Interactions for FAM49B Gene

genes like me logo Genes that share pathways with FAM49B: view

Gene Ontology (GO) - Biological Process for FAM49B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001916 positive regulation of T cell mediated cytotoxicity ISS --
GO:0002576 platelet degranulation TAS --
GO:0032729 positive regulation of interferon-gamma production ISS --
GO:0050870 positive regulation of T cell activation ISS --
GO:2000568 positive regulation of memory T cell activation ISS --
genes like me logo Genes that share ontologies with FAM49B: view

No data available for SIGNOR curated interactions for FAM49B Gene

Drugs & Compounds for FAM49B Gene

No Compound Related Data Available

Transcripts for FAM49B Gene

Unigene Clusters for FAM49B Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM49B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
SP1: - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - -
SP7: - - - - -
SP8: - - - - - -
SP9: - - - - - - - -
SP10: - - -
SP11: - - - - - -
SP12: - - - -
SP13:

Relevant External Links for FAM49B Gene

GeneLoc Exon Structure for
FAM49B
ECgene alternative splicing isoforms for
FAM49B

Expression for FAM49B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM49B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM49B Gene

This gene is overexpressed in Whole Blood (x11.0).

Protein differential expression in normal tissues from HIPED for FAM49B Gene

This gene is overexpressed in Lymph node (7.8) and NK cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM49B Gene



Protein tissue co-expression partners for FAM49B Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM49B Gene:

FAM49B

SOURCE GeneReport for Unigene cluster for FAM49B Gene:

Hs.126941

Evidence on tissue expression from TISSUES for FAM49B Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Bone marrow(4.4)
  • Kidney(4.2)
  • Eye(2.5)
genes like me logo Genes that share expression patterns with FAM49B: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM49B Gene

Orthologs for FAM49B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM49B Gene

Organism Taxonomy Gene Similarity Type Details
oppossum
(Monodelphis domestica)
Mammalia FAM49B 34
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM49B 33 34
  • 99.9 (n)
cow
(Bos Taurus)
Mammalia FAM49B 33 34
  • 95.47 (n)
rat
(Rattus norvegicus)
Mammalia Fam49b 33
  • 95.06 (n)
mouse
(Mus musculus)
Mammalia Fam49b 33 16 34
  • 94.75 (n)
dog
(Canis familiaris)
Mammalia FAM49B 33 34
  • 92.59 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM49B 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM49B 33 34
  • 86.63 (n)
lizard
(Anolis carolinensis)
Reptilia FAM49B 34
  • 99 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam49b 33
  • 82.61 (n)
African clawed frog
(Xenopus laevis)
Amphibia cg32066-prov 33
zebrafish
(Danio rerio)
Actinopterygii fam49bb 33 34
  • 77.06 (n)
wufj85c11 33
fruit fly
(Drosophila melanogaster)
Insecta CG32066 34
  • 54 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea R07G3.8 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 59 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3933 33
Species where no ortholog for FAM49B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)

Evolution for FAM49B Gene

ENSEMBL:
Gene Tree for FAM49B (if available)
TreeFam:
Gene Tree for FAM49B (if available)

Paralogs for FAM49B Gene

Paralogs for FAM49B Gene

Pseudogenes.org Pseudogenes for FAM49B Gene

genes like me logo Genes that share paralogs with FAM49B: view

Variants for FAM49B Gene

Sequence variations from dbSNP and Humsavar for FAM49B Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1000015450 -- 130,004,762(+) AGGAA(-/TTTTTTT)TTTTT intron-variant
rs1000032796 -- 129,948,983(+) GGCAG(C/T)AGGAT intron-variant
rs1000034779 -- 129,839,257(+) TCCAA(C/G)GACAG downstream-variant-500B
rs1000060876 -- 129,858,649(+) ACGGT(G/T)GGCAT intron-variant
rs1000064596 -- 129,991,865(+) AGAAT(C/T)GCTTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM49B Gene

Variant ID Type Subtype PubMed ID
esv1565412 CNV insertion 17803354
esv1773292 CNV insertion 17803354
esv2673225 CNV deletion 23128226
esv3304650 CNV mobile element insertion 20981092
esv3430278 CNV insertion 20981092
esv3576607 CNV gain 25503493
esv3576608 CNV gain 25503493
esv3618822 CNV loss 21293372
nsv1018045 CNV gain 25217958
nsv1137620 CNV deletion 24896259
nsv1143215 CNV tandem duplication 24896259
nsv1161802 CNV deletion 26073780
nsv397955 CNV insertion 16902084
nsv398375 CNV insertion 16902084
nsv398482 CNV deletion 16902084
nsv465808 CNV loss 19166990
nsv521998 CNV loss 19592680
nsv6396 CNV insertion 18451855
nsv612233 CNV loss 21841781
nsv612232 CNV loss 21841781
nsv612231 CNV gain 21841781
nsv524349 CNV gain 19592680

Variation tolerance for FAM49B Gene

Residual Variation Intolerance Score: 37.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM49B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM49B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM49B Gene

Disorders for FAM49B Gene

Relevant External Links for FAM49B

Genetic Association Database (GAD)
FAM49B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM49B

No disorders were found for FAM49B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAM49B Gene

Publications for FAM49B Gene

  1. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D … Ferrucci L (PLoS genetics 2008) 3 45 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. 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
  4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for FAM49B Gene

Sources for FAM49B Gene

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