Human Gene FAM126A (uc003svm.4) Description and Page Index
  Description: Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.
RefSeq Summary (NM_032581): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660807.137060.1, SRR1803616.164150.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr7:22,980,878-23,053,770 Size: 72,893 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr7:22,985,208-23,030,730 Size: 45,523 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr7:22,980,878-23,053,770)mRNA (may differ from genome)Protein (521 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkH-INV
PubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Hyccin; AltName: Full=Down-regulated by CTNNB1 protein A; AltName: Full=Protein FAM126A;
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.
SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=According to PubMed:10910037, it is mainly cytoplasmic while according to PubMed:16951682, it is a membrane protein.
TISSUE SPECIFICITY: Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.
INDUCTION: Down-regulated by beta-catenin.
DISEASE: Defects in FAM126A are the cause of leukodystrophy hypomyelinating type 5 (HLD5) [MIM:610532]. This disorder is 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.
SIMILARITY: Belongs to the FAM126 family.
WEB RESOURCE: Name=GeneReviews; URL="";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FAM126A
CDC HuGE Published Literature: FAM126A
Positive Disease Associations: Bipolar Disorder , Platelet Aggregation
Related Studies:
  1. Bipolar Disorder
    Yuan Jiang et al. Genetic epidemiology 2011, Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder., Genetic epidemiology. [PubMed 21254220]
  2. Platelet Aggregation
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.

-  MalaCards Disease Associations
  MalaCards Gene Search: FAM126A
Diseases sorted by gene-association score: leukodystrophy, hypomyelinating, 5* (1688), hypomyelinating leukodystrophy (17), leukodystrophy (11)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.98 RPKM in Cells - Transformed fibroblasts
Total median expression: 243.46 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -108.30255-0.425 Picture PostScript Text
3' UTR -1097.564330-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR018619 - Hyccin

Pfam Domains:
PF09790 - Hyccin

ModBase Predicted Comparative 3D Structure on Q9BYI3
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  Protein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004871 signal transducer activity
GO:0005515 protein binding

Biological Process:
GO:0007165 signal transduction
GO:0042552 myelination
GO:0046854 phosphatidylinositol phosphorylation
GO:0072659 protein localization to plasma membrane

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0043005 neuron projection

-  Descriptions from all associated GenBank mRNAs
  BX640757 - Homo sapiens mRNA; cDNA DKFZp686H0325 (from clone DKFZp686H0325).
LF383949 - JP 2014500723-A/191452: Polycomb-Associated Non-Coding RNAs.
AL833296 - Homo sapiens mRNA; cDNA DKFZp451I149 (from clone DKFZp451I149).
AK057686 - Homo sapiens cDNA FLJ33124 fis, clone TRACH2001463.
LF357786 - JP 2014500723-A/165289: Polycomb-Associated Non-Coding RNAs.
BC018710 - Homo sapiens family with sequence similarity 126, member A, mRNA (cDNA clone MGC:31772 IMAGE:4649785), complete cds.
JD450507 - Sequence 431531 from Patent EP1572962.
JD473338 - Sequence 454362 from Patent EP1572962.
AK297399 - Homo sapiens cDNA FLJ57746 complete cds, moderately similar to Down-regulated by CTNNB1 protein A.
JD236298 - Sequence 217322 from Patent EP1572962.
JD110594 - Sequence 91618 from Patent EP1572962.
JD331228 - Sequence 312252 from Patent EP1572962.
JD234344 - Sequence 215368 from Patent EP1572962.
JD173297 - Sequence 154321 from Patent EP1572962.
AK054887 - Homo sapiens cDNA FLJ30325 fis, clone BRACE2007153.
AK056319 - Homo sapiens cDNA FLJ31757 fis, clone NT2RI2007572.
JD296145 - Sequence 277169 from Patent EP1572962.
LF357787 - JP 2014500723-A/165290: Polycomb-Associated Non-Coding RNAs.
JD154645 - Sequence 135669 from Patent EP1572962.
JD375784 - Sequence 356808 from Patent EP1572962.
JD338160 - Sequence 319184 from Patent EP1572962.
JD473388 - Sequence 454412 from Patent EP1572962.
AB030241 - Homo sapiens mRNA for DRCTNNB1A, complete cds.
LF357788 - JP 2014500723-A/165291: Polycomb-Associated Non-Coding RNAs.
JD244696 - Sequence 225720 from Patent EP1572962.
JD491349 - Sequence 472373 from Patent EP1572962.
JD262658 - Sequence 243682 from Patent EP1572962.
DQ891698 - Synthetic construct clone IMAGE:100004328; FLH183424.01X; RZPDo839C03142D down-regulated by Ctnnb1, a (DRCTNNB1A) gene, encodes complete protein.
DQ895341 - Synthetic construct Homo sapiens clone IMAGE:100009801; FLH183420.01L; RZPDo839C03141D down-regulated by Ctnnb1, a (DRCTNNB1A) gene, encodes complete protein.
KJ895017 - Synthetic construct Homo sapiens clone ccsbBroadEn_04411 FAM126A gene, encodes complete protein.
KR710586 - Synthetic construct Homo sapiens clone CCSBHm_00014150 FAM126A (FAM126A) mRNA, encodes complete protein.
KU178808 - Homo sapiens family with sequence similarity 126 member A isoform 1 (FAM126A) mRNA, partial cds.
KU178809 - Homo sapiens family with sequence similarity 126 member A isoform 2 (FAM126A) mRNA, complete cds, alternatively spliced.
KU178810 - Homo sapiens family with sequence similarity 126 member A isoform 3 (FAM126A) mRNA, complete cds, alternatively spliced.
LF357789 - JP 2014500723-A/165292: Polycomb-Associated Non-Coding RNAs.
LF357790 - JP 2014500723-A/165293: Polycomb-Associated Non-Coding RNAs.
LF357791 - JP 2014500723-A/165294: Polycomb-Associated Non-Coding RNAs.
CU676286 - Synthetic construct Homo sapiens gateway clone IMAGE:100023384 5' read FAM126A mRNA.
LF357797 - JP 2014500723-A/165300: Polycomb-Associated Non-Coding RNAs.
LF357798 - JP 2014500723-A/165301: Polycomb-Associated Non-Coding RNAs.
LF357799 - JP 2014500723-A/165302: Polycomb-Associated Non-Coding RNAs.
LF357800 - JP 2014500723-A/165303: Polycomb-Associated Non-Coding RNAs.
LF357802 - JP 2014500723-A/165305: Polycomb-Associated Non-Coding RNAs.
LF357803 - JP 2014500723-A/165306: Polycomb-Associated Non-Coding RNAs.
LF357807 - JP 2014500723-A/165310: Polycomb-Associated Non-Coding RNAs.
LF357808 - JP 2014500723-A/165311: Polycomb-Associated Non-Coding RNAs.
JD227187 - Sequence 208211 from Patent EP1572962.
LF357816 - JP 2014500723-A/165319: Polycomb-Associated Non-Coding RNAs.
JD547731 - Sequence 528755 from Patent EP1572962.
JD546489 - Sequence 527513 from Patent EP1572962.
JD500855 - Sequence 481879 from Patent EP1572962.
JD212591 - Sequence 193615 from Patent EP1572962.
LF357817 - JP 2014500723-A/165320: Polycomb-Associated Non-Coding RNAs.
JD525533 - Sequence 506557 from Patent EP1572962.
MA619526 - JP 2018138019-A/191452: Polycomb-Associated Non-Coding RNAs.
MA593363 - JP 2018138019-A/165289: Polycomb-Associated Non-Coding RNAs.
MA593364 - JP 2018138019-A/165290: Polycomb-Associated Non-Coding RNAs.
MA593365 - JP 2018138019-A/165291: Polycomb-Associated Non-Coding RNAs.
MA593366 - JP 2018138019-A/165292: Polycomb-Associated Non-Coding RNAs.
MA593367 - JP 2018138019-A/165293: Polycomb-Associated Non-Coding RNAs.
MA593368 - JP 2018138019-A/165294: Polycomb-Associated Non-Coding RNAs.
MA593374 - JP 2018138019-A/165300: Polycomb-Associated Non-Coding RNAs.
MA593375 - JP 2018138019-A/165301: Polycomb-Associated Non-Coding RNAs.
MA593376 - JP 2018138019-A/165302: Polycomb-Associated Non-Coding RNAs.
MA593377 - JP 2018138019-A/165303: Polycomb-Associated Non-Coding RNAs.
MA593379 - JP 2018138019-A/165305: Polycomb-Associated Non-Coding RNAs.
MA593380 - JP 2018138019-A/165306: Polycomb-Associated Non-Coding RNAs.
MA593384 - JP 2018138019-A/165310: Polycomb-Associated Non-Coding RNAs.
MA593385 - JP 2018138019-A/165311: Polycomb-Associated Non-Coding RNAs.
MA593393 - JP 2018138019-A/165319: Polycomb-Associated Non-Coding RNAs.
MA593394 - JP 2018138019-A/165320: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A4D145, DRCTNNB1A, HYCCI_HUMAN, NM_032581, NP_115970, Q6N010, Q75MR4, Q7LDZ4, Q96MX1, Q96NQ6, Q9BYI3
UCSC ID: uc003svm.4
RefSeq Accession: NM_032581
Protein: Q9BYI3 (aka HYCCI_HUMAN)
CCDS: CCDS5377.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FAM126A:
hypo-mcc (Hypomyelination and Congenital Cataract)
leukodys-ov (Leukodystrophy Overview)

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_032581.3
exon count: 11CDS single in 3' UTR: no RNA size: 6165
ORF size: 1566CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3300.00frame shift in genome: no % Coverage: 99.77
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.