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Aliases for FAM46A Gene

Aliases for FAM46A Gene

  • Family With Sequence Similarity 46 Member A 2 3 5
  • Family With Sequence Similarity 46, Member A 2 3
  • HBV X-Transactivated Gene 11 Protein 3 4
  • HBV XAg-Transactivated Protein 11 3 4
  • C6orf37 3 4
  • XTP11 3 4
  • Chromosome 6 Open Reading Frame 37 2
  • Retinal Expressed Gene C6orf37 3

External Ids for FAM46A Gene

Previous HGNC Symbols for FAM46A Gene

  • C6orf37

Previous GeneCards Identifiers for FAM46A Gene

  • GC06M082512
  • GC06M082201
  • GC06M079672

Summaries for FAM46A Gene

GeneCards Summary for FAM46A Gene

FAM46A (Family With Sequence Similarity 46 Member A) is a Protein Coding gene. Diseases associated with FAM46A include retinitis pigmentosa. GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is FAM46C.

Gene Wiki entry for FAM46A Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM46A Gene

Genomics for FAM46A Gene

Regulatory Elements for FAM46A Gene

Promoters for FAM46A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM46A on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM46A Gene

Chromosome:
6
Start:
81,491,439 bp from pter
End:
81,752,774 bp from pter
Size:
261,336 bases
Orientation:
Minus strand

Genomic View for FAM46A Gene

Genes around FAM46A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM46A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM46A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM46A Gene

Proteins for FAM46A Gene

  • Protein details for FAM46A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IP4-FA46A_HUMAN
    Recommended name:
    Protein FAM46A
    Protein Accession:
    Q96IP4
    Secondary Accessions:
    • A8K7U4
    • Q5TF86
    • Q8NFZ9
    • Q9BW32
    • Q9NXV5

    Protein attributes for FAM46A Gene

    Size:
    442 amino acids
    Molecular mass:
    49666 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH00683.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM46A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM46A Gene

Proteomics data for FAM46A Gene at MOPED

Post-translational modifications for FAM46A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM46A Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for FAM46A

No data available for DME Specific Peptides for FAM46A Gene

Domains & Families for FAM46A Gene

Protein Domains for FAM46A Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96IP4

UniProtKB/Swiss-Prot:

FA46A_HUMAN :
  • Belongs to the FAM46 family.
Family:
  • Belongs to the FAM46 family.
genes like me logo Genes that share domains with FAM46A: view

No data available for Gene Families for FAM46A Gene

Function for FAM46A Gene

genes like me logo Genes that share phenotypes with FAM46A: view

Animal Model Products

CRISPR Products

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 FAM46A Gene

Localization for FAM46A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM46A Gene COMPARTMENTS Subcellular localization image for FAM46A gene
Compartment Confidence
cytosol 3
nucleus 3
cytoskeleton 1
extracellular 1
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM46A Gene

Pathways & Interactions for FAM46A Gene

SuperPathways for FAM46A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM46A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM46A Gene

Drugs & Compounds for FAM46A Gene

No Compound Related Data Available

Transcripts for FAM46A Gene

Unigene Clusters for FAM46A Gene

Family with sequence similarity 46, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM46A Gene

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

Relevant External Links for FAM46A Gene

GeneLoc Exon Structure for
FAM46A
ECgene alternative splicing isoforms for
FAM46A

Expression for FAM46A Gene

mRNA expression in normal human tissues for FAM46A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FAM46A Gene

This gene is overexpressed in Placenta (28.3), Salivary gland (20.9), and Skin (19.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FAM46A Gene



SOURCE GeneReport for Unigene cluster for FAM46A Gene Hs.10784

mRNA Expression by UniProt/SwissProt for FAM46A Gene

Q96IP4-FA46A_HUMAN
Tissue specificity: Widely expressed, with preferential expression observed in the retina compared to other ocular tissues.
genes like me logo Genes that share expression patterns with FAM46A: view

Protein tissue co-expression partners for FAM46A Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for FAM46A Gene

Orthologs for FAM46A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM46A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FAM46A 35
  • 94.24 (n)
  • 97 (a)
FAM46A 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM46A 35
  • 94.9 (n)
  • 97.22 (a)
FAM46A 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam46a 35
  • 91.36 (n)
  • 96.26 (a)
Fam46a 16
Fam46a 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FAM46A 35
  • 99.55 (n)
  • 100 (a)
FAM46A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam46a 35
  • 91.02 (n)
  • 96.02 (a)
oppossum
(Monodelphis domestica)
Mammalia FAM46A 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM46A 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM46A 35
  • 85.54 (n)
  • 94.29 (a)
FAM46A 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM46A 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam46a 35
  • 83.38 (n)
  • 92.03 (a)
Str.1648 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.13086 35
zebrafish
(Danio rerio)
Actinopterygii LOC100330676 35
  • 76.71 (n)
  • 85.71 (a)
fam46a 36
  • 83 (a)
OneToMany
FAM46A (1 of 2) 36
  • 83 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG30497 36
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pqn-44 36
  • 35 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToMany
Species with no ortholog for FAM46A:
  • 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 FAM46A Gene

ENSEMBL:
Gene Tree for FAM46A (if available)
TreeFam:
Gene Tree for FAM46A (if available)

Paralogs for FAM46A Gene

Paralogs for FAM46A Gene

(4) SIMAP similar genes for FAM46A Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FAM46A: view

Variants for FAM46A Gene

Sequence variations from dbSNP and Humsavar for FAM46A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_028979 -
rs11040 -- 81,752,132(+) TTCAC(A/C)CTCCG reference, missense
rs194607 -- 81,747,430(+) TGCAG(C/G)GGCTG utr-variant-3-prime
rs742961 -- 81,753,798(-) AGGCA(A/G)CGAGC upstream-variant-2KB
rs915124 -- 81,753,019(+) ATCAA(A/C)ACCAG upstream-variant-2KB

Variation tolerance for FAM46A Gene

Residual Variation Intolerance Score: 37.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.14; 38.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM46A Gene

HapMap Linkage Disequilibrium report
FAM46A
Human Gene Mutation Database (HGMD)
FAM46A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FAM46A Gene

Disorders for FAM46A Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM46A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAM46A

Genetic Association Database (GAD)
FAM46A
Human Genome Epidemiology (HuGE) Navigator
FAM46A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM46A
genes like me logo Genes that share disorders with FAM46A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM46A Gene

Publications for FAM46A Gene

  1. Identification of a novel VNTR polymorphism in C6orf37 and its association with colorectal cancer risk in Chinese population. (PMID: 16545789) Cui J. … Yao C. (Clin. Chim. Acta 2006) 3 4 48 67
  2. Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs. (PMID: 17803723) BarragA!n I. … AntiA+olo G. (Ann. Hum. Genet. 2008) 2 3
  3. Identification and characterization of C6orf37, a novel candidate human retinal disease gene on chromosome 6q14. (PMID: 12054608) Lagali P.S. … Ayyagari R. (Biochem. Biophys. Res. Commun. 2002) 2 3
  4. Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6. (PMID: 25231575) Etokebe G.E. … Dembic Z. (J. Orthop. Res. 2015) 3
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3

Products for FAM46A Gene

Sources for FAM46A Gene

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