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

FAM126A Gene

protein-coding   GIFtS: 46
GCID: GC07M022980

Family With Sequence Similarity 126, Member A

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Family With Sequence Similarity 126, Member A1 2     HCC2
DRCTNNB1A2 3 5     HYCC12
Down-Regulated By CTNNB1 Protein A2 3     Down Regulated By Ctnnb1, A2
HLD52 5     hyccin2
a1     Protein FAM126A3
Down Regulated By Ctnnb11     

External Ids:    HGNC: 245871   Entrez Gene: 846682   Ensembl: ENSG000001225917   OMIM: 6105315   UniProtKB: Q9BYI33   

Export aliases for FAM126A gene to outside databases

Previous GC identifers: GC07M022949 GC07M022864


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

Entrez Gene summary for FAM126A Gene:
The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this
gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelination with congenital
cataract (HCC). (provided by RefSeq, Oct 2008)

GeneCards Summary for FAM126A Gene: 
FAM126A (family with sequence similarity 126, member A) is a protein-coding gene. Diseases associated with FAM126A include hypomyelination and congenital cataract, and cataract. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is FAM126B.

UniProtKB/Swiss-Prot: HYCCI_HUMAN, Q9BYI3
Function: May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination
of the central and peripheral nervous system




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007819.17  NC_018918.2  NT_079592.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM126A gene promoter:
         p53   AML1a   STAT3   MyoD   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): FAM126A promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM126A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM126A


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

Entrez Gene cytogenetic band: 7p15.3   Ensembl cytogenetic band:  7p15.3   HGNC cytogenetic band: 7p15.3

FAM126A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM126A gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M022980:  view genomic region     (about GC identifiers)

Start:
22,980,878 bp from pter      End:
23,053,770 bp from pter
Size:
72,893 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 23,032,723-23,105,592     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HYCCI_HUMAN, Q9BYI3 (See protein sequence)
Recommended Name: Hyccin  
Size: 521 amino acids; 57625 Da
Subcellular location: Cytoplasm. Membrane. Note=According to PubMed:10910037, it is mainly cytoplasmic while
according to PubMed:16951682, it is a membrane protein
Secondary accessions: A4D145 Q6N010 Q75MR4 Q7LDZ4 Q96MX1 Q96NQ6
Alternative splicing: 2 isoforms:  Q9BYI3-1   Q9BYI3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM126A: NX_Q9BYI3

Explore proteomics data for FAM126A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYI3

  • FAM126A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM126A Protein Expression
    REFSEQ proteins: NP_115970.2  
    ENSEMBL proteins: 
     ENSP00000403396   ENSP00000397168   ENSP00000386246   ENSP00000386624  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm IDA--
    GO:0005886plasma membrane IDA--

    FAM126A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR018619 Hyccin

    Graphical View of Domain Structure for InterPro Entry Q9BYI3

    ProtoNet protein and cluster: Q9BYI3

    UniProtKB/Swiss-Prot: HYCCI_HUMAN, Q9BYI3
    Similarity: Belongs to the FAM126 family


    FAM126A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HYCCI_HUMAN, Q9BYI3
    Function: May have a role in the beta-catenin/Lef signaling pathway. May have a role in the process of myelination
    of the central and peripheral nervous system
    Induction: Down-regulated by beta-catenin

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity NAS10910037
         
    FAM126A for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidFAM126A 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM126A

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction NAS10910037
    GO:0008150biological_process ND--

    FAM126A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 FAM126A (HYCCI)

    Search CenterWatch for drugs/clinical trials and news about FAM126A / HYCCI

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAM126A gene: 
    NM_032581.3  

    Unigene Cluster for FAM126A:

    Family with sequence similarity 126, member A
    Hs.85603  [show with all ESTs]
    Unigene Representative Sequence: AL833296
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000432176(uc003svm.4 uc011jyr.1) ENST00000440481(uc003svn.4)
    ENST00000409923 ENST00000498833 ENST00000477349 ENST00000409763 ENST00000467005
    ENST00000465661
    miRNA
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    8/80 QIAGEN miScript miRNA Assays for microRNAs that regulate FAM126A (see all 80):
    hsa-miR-548j hsa-miR-323-3p hsa-miR-4254 hsa-miR-300 hsa-miR-188-5p hsa-miR-128 hsa-miR-4305 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidFAM126A 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat FAM126A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM126A

    Additional mRNA sequence: 

    AB030241.1 AK054887.1 AK056319.1 AK057686.1 AK297399.1 AL137332.1 AL833296.1 BC018710.1 

    10 DOTS entries:

    DT.97765939  DT.211319  DT.100672630  DT.95374845  DT.91649862  DT.100740173  DT.121074911  DT.92418808 
    DT.95210331  DT.95374843 

    24/177 AceView cDNA sequences (see all 177):

    BQ014877 AA454633 AA748393 BX954246 BM715445 T34135 AI080337 BI760923 
    CF529699 AI964036 BQ013361 AA236600 NM_032581 BU753236 AA478894 AK057686 
    BC018710 BP365893 BQ004906 CF994705 AA456245 AA811006 AA746276 BX507541 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for FAM126A (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b
    SP1:                          -           -           -                                               -     -               
    SP2:                    -     -           -           -                                                                     
    SP3:                                                                                                        -               
    SP4:                                                                                                                        
    SP5:                          -                                                                                             


    ECgene alternative splicing isoforms for FAM126A

    (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

    FAM126A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATTTATACT
    FAM126A Expression
    About this image


    See FAM126A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM126A

    SOURCE GeneReport for Unigene cluster: Hs.85603

    UniProtKB/Swiss-Prot: HYCCI_HUMAN, Q9BYI3
    Tissue specificity: Widely expressed. Highest levels in heart, brain, placenta, spleen and testis

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    In Situ
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    (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 animals.

    Orthologs for FAM126A gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam126a1 , 5 family with sequence similarity 126, member A1, 5 88.48(n)1
    91.75(a)1
      5 (10.53 cM)5
    846521  NM_053090.21  NP_444320.21 
     239152765 
    chicken
    (Gallus gallus)
    Aves FAM126A1 family with sequence similarity 126, member A 79.18(n)
    82.3(a)
      420611  NM_001030983.1  NP_001026154.1 
    lizard
    (Anolis carolinensis)
    Reptilia FAM126A6
    family with sequence similarity 126, member A
    73(a)
    1 ↔ 1
    6(30337107-30380072)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.70502 Xenopus laevis transcribed sequence with weak similarity more 79.8(n)    BJ619862.1 
    zebrafish
    (Danio rerio)
    Actinopterygii fam126a1 family with sequence similarity 126, member A 58.58(n)
    63.41(a)
      402926  NM_205630.1  NP_991193.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64061 CG6406 40.76(n)
    30.72(a)
      37019  NM_137412.3  NP_611256.1 
    worm
    (Caenorhabditis elegans)
    Secernentea D1069.36
    Protein D1069.3, isoform b
    20(a)
    1 → many
    II(342137-347865)


    ENSEMBL Gene Tree for FAM126A (if available)
    TreeFam Gene Tree for FAM126A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM126A gene
    FAM126B2  
    2 SIMAP similar genes for FAM126A using alignment to 4 protein entries:     HYCCI_HUMAN (see all proteins):
    MGC39518    FAM126B

    FAM126A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/1530 SNPs in FAM126A are shown (see all 1530)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0306474
    Leukodystrophy, hypomyelinating, 5 (HLD5)4--see VAR_0306472 L P mis40--------
    rs37352311,2
    C,F,A,Hnon-pathogenic122990021(-) TGTTCA/GAGGTA 2 S syn130Minor allele frequency- G:0.35NS EA NA WA CSA EU 8269
    rs725494061,2
    Cpathogenic122991149(-) ATGAAC/G/TTAAGT 2 -- spd10--------
    rs725494071,2
    Cpathogenic122992253(-) GTTGCC/TAGAAC 2 P L mis10--------
    rs725494051,2
    Cpathogenic123004871(-) TTAAGA/GTAATA 1 -- spd10--------
    rs1857440671,2
    --22954657(+) ATCTCA/GTTATA 1 -- ds50010--------
    rs1890043781,2
    C--22954685(+) AAATTC/TCTGGG 1 -- ds50010--------
    rs77886681,2
    C,F,H--22954826(+) TGGTGC/AATGGC 1 -- ds500128Minor allele frequency- A:0.22NA NS EA CSA WA 2912
    rs783958081,2
    C--22955028(+) TTTTAC/TAATAA 1 -- ds50010--------
    rs357085831,2
    C--22955117(+) GTATA-/AC/CA 
            
    AAGTA
    2 -- ut311NA 2

    HapMap Linkage Disequilibrium report for FAM126A (22980878 - 23053770 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for FAM126A:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv5660CNV Loss18451855
    nsv526131CNV Loss19592680
    nsv7393OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): FAM126A
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for FAM126A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610531   
    OMIM disorders: 610532  
    UniProtKB/Swiss-Prot: HYCCI_HUMAN, Q9BYI3
  • Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]: A hypomyelinating leukodystrophy associated with
    congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment,
    and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction,
    muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5
    shows clinical variability, but features of hypomyelination combined with increased periventricular white matter
    water content are consistently observed. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 4 diseases for FAM126A:    About MalaCards
    hypomyelination and congenital cataract    cataract    leukodystrophy    bipolar disorder


    FAM126A for disorders           About GeneDecksing

    GeneTests: FAM126A
    GeneReviews: FAM126A
    Genetic Association Database (GAD): FAM126A

    Export disorders for FAM126A gene to outside databases

    (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 FAM126A gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with FAM126A)
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    world of online information

    1. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. (PubMed id 16951682)1, 2, 3 Zara F....Minetti C. (2006)
    2. Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin. (PubMed id 10910037)1, 2, 3 Kawasoe T....Nakamura Y. (2000)
    3. Hypomyelination and congenital cataract: broadening t he clinical phenotype. (PubMed id 21911699)1, 2 Biancheri R....Wolf N.I. (2011)
    4. Propensity score-based nonparametric test revealing ge netic variants underlying bipolar disorder. (PubMed id 21254220)1, 4 Jiang Y. and Zhang H. (2011)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    9. Hypomyelination and congenital cataract: identificatio n of novel mutations in two unrelated families. (PubMed id 22749724)1 Traverso M....Biancheri R. (2013)
    10. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84668 HGNC: 24587 AceView: DRCTNNB1A Ensembl:ENSG00000122591 euGenes: HUgn84668
    ECgene: FAM126A H-InvDB: FAM126A

    (According to HUGE)
    About This Section
      --

    (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 FAM126A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FAM126A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for FAM126A gene:
    Search GeneIP for patents involving FAM126A

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



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