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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FAM194A Gene

protein-coding   GIFtS: 37
GCID: GC03M150378

family with sequence similarity 194, member A

(Previous name: chromosome 3 open reading frame 44 )
(Previous symbol: C3orf44)
  Search for FAM194A
in
MalaCards
our new
 Human Malady Compendium 
Biological research products
for FAM194A    

Aliases
for FAM194A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Family With Sequence Similarity 194, Member A1 2
C3orf441 2 3
MGC396621
Chromosome 3 Open Reading Frame 441
Protein FAM194A2

External Ids:    HGNC: 286021   Entrez Gene: 1318312   Ensembl: ENSG000001636457   UniProtKB: Q7L0X23   

Export aliases for FAM194A gene to outside databases

Previous GC identifers: GC03M151862 GC03M147751


Summaries
for FAM194A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for FAM194A gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FAM194A
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM194A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM194A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q25.1   Ensembl cytogenetic band:  3q25.1   HGNC cytogenetic band: 3q25.1

FAM194A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM194A gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M150378:  view genomic region     (about GC identifiers)

Start:
 150,377,672 bp from pter      End:
 150,421,758 bp from pter
Size:
 44,087 bases      Orientation:
 minus strand

Proteins
for FAM194A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: F194A_HUMAN, Q7L0X2 (See protein sequence)
Recommended Name: Protein FAM194A  
Size: 663 amino acids; 75255 Da
Secondary accessions: Q8N9Y8 Q8NCQ6 Q8NCZ6
Alternative splicing: 3 isoforms:  Q7L0X2-1   Q7L0X2-2   Q7L0X2-3   

Explore the universe of human proteins at neXtProt for FAM194A: NX_Q7L0X2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7L0X2

    • FAM194A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_689607.2  
    ENSEMBL proteins: 
     ENSP00000295910   ENSP00000419366   ENSP00000419304   ENSP00000417780  

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    Protein Domains /
    Families
    for FAM194A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q7L0X2

    UniProtKB/Swiss-Prot: F194A_HUMAN, Q7L0X2
    Similarity: Belongs to the FAM194 family


    Function
    for FAM194A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    Pathways & Interactions
    for FAM194A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM194A

    Drugs & Compounds
    for FAM194A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FAM194A
    Search CenterWatch for drugs/clinical trials and news about FAM194A / F194A 

    Transcripts
    for FAM194A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section
    REFSEQ mRNAs for FAM194A gene: 
    NM_152394.3  

    Unigene Cluster for FAM194A:

    Family with sequence similarity 194, member A
    Hs.147128  [show with all ESTs]
    Unigene Representative Sequence: NM_152394
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000295910(uc003eyg.3) ENST00000491361(uc003eyh.3) ENST00000491716
    ENST00000474463 ENST00000498386

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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK093375.1 AL834214.1 BC029577.1 BC036239.1 

    3 DOTS entries:

    DT.95150601  DT.109149  DT.100020306 

    17 AceView cDNA sequences:

    AK093375 AX748085 BC029577 AA904448 AI024152 AA913378 NM_152394 BC036239 
    AI018354 AI018353 BX100208 BI464810 AI149972 BI562251 AA912136 AL834214 
    BI825393 

    GeneLoc Exon Structure


    Expression
    for FAM194A gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    FAM194A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGCAAGTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    FAM194A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeOuter Nuclear LayerMature Rod CellsPhotoreceptors, Retina
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See FAM194A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM194A

    SOURCE GeneReport for Unigene cluster: Hs.147128
        SABiosciences Custom PCR Arrays for FAM194A
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM194A

    Orthologs
    for FAM194A gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for FAM194A gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Fam194a1 , 5 family with sequence similarity 194, member A1, 5 69.79(n)1
    58.92(a)1    		   3 (28.64 cM)5
    5455271  NM_001081262.11  NP_001074731.11 
     586163005 
    chicken
    (Gallus gallus)    		 Aves FAM194A1 family with sequence similarity 194, member A 54.03(n)
    45.23(a)    		   771833  XM_001235060.2  XP_001235061.2 
    lizard
    (Anolis carolinensis)    		 Reptilia FAM194A6
    		 --
    		 44(a)
    		 1 ↔ 1
    		 3(18299153-18333937)


    ENSEMBL Gene Tree for FAM194A (if available)
    TreeFam Gene Tree for FAM194A (if available) 

    Paralogs
    for FAM194A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM194A gene
    FAM194B2  

    FAM194A for paralogs           About GeneDecksing



    Genomic Variants
    for FAM194A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    4 NCBI SNPs in FAM194A are shown     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs58534911,2
    		C--150419617(+) AAAGCC/-TATAT 1 -- int11Minor allele frequency- -:0.00NA 2
    rs568708621,2
    		C--150420593(+) TTAAATTAAA/- 
                CACAA     		1 -- int11Minor allele frequency- -:0.00NA 2
    rs346200811,2
    		C--150421900(+) CCTGCC/-TCTTC 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs1997281241,2
    		----150420802(+) AGAGA-/GATGTCA 1 -- int10--------

    HapMap Linkage Disequilibrium report for FAM194A (150377672 - 150421758 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM194A
         1 Indel: 79966

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    Disorders / Diseases
    for FAM194A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    FAM194A for disorders           About MalaCards

    FAM194A for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: FAM194A (0 documents)

    Export disorders for FAM194A gene to outside databases

    Publications
    for FAM194A gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for FAM194A gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM194A)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    2. Coeliac disease associated risk variants in TNFAIP3 and REL implicate altered NF-{kappa}B signalling. (PubMed id 19240061)1 Trynka G....Wijmenga C. (2009)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    External Searches for FAM194A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing FAM194A gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 131831 HGNC: 28602 AceView: MGC39662 Ensembl:ENSG00000163645 euGenes: HUgn131831
    ECgene: FAM194A H-InvDB: FAM194A

    Other Databases showing FAM194A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing FAM194A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for FAM194A Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for FAM194A gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for FAM194A gene:
    Search GeneIP for patents involving FAM194A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    for FAM194A gene

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    About This Section

     
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    VWF
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    von Willebrand factor
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