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Aliases for FAM126A Gene

Aliases for FAM126A Gene

  • Family With Sequence Similarity 126, Member A 2 3
  • DRCTNNB1A 3 4 6
  • Down-Regulated By CTNNB1 Protein A 3 4
  • HLD5 3 6
  • Down Regulated By Ctnnb1, A 3
  • Down Regulated By Ctnnb1 2
  • Protein FAM126A 4
  • Hyccin 3
  • HYCC1 3
  • HCC 3
  • A 2

External Ids for FAM126A Gene

Previous GeneCards Identifiers for FAM126A Gene

  • GC07M022949
  • GC07M022864
  • GC07M022980

Summaries for FAM126A Gene

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 leukodystrophy, hypomyelinating, 5 and hypomyelination and congenital cataract. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is FAM126B.

UniProtKB/Swiss-Prot for FAM126A Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM126A Gene

Genomics for FAM126A Gene

Regulatory Elements for FAM126A Gene

Transcription factor binding sites by QIAGEN in the FAM126A gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FAM126A Gene

22,889,371 bp from pter
23,014,195 bp from pter
124,825 bases
Minus strand

Genomic View for FAM126A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FAM126A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM126A Gene

Proteins for FAM126A Gene

  • Protein details for FAM126A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A4D145
    • Q6N010
    • Q75MR4
    • Q7LDZ4
    • Q96MX1
    • Q96NQ6

    Protein attributes for FAM126A Gene

    521 amino acids
    Molecular mass:
    57625 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM126A Gene


neXtProt entry for FAM126A Gene

Proteomics data for FAM126A Gene at MOPED

Post-translational modifications for FAM126A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM126A Gene

No data available for DME Specific Peptides for FAM126A Gene

Domains for FAM126A Gene

Protein Domains for FAM126A Gene


Suggested Antigen Peptide Sequences for FAM126A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Q9BYI3
  • Belongs to the FAM126 family.
genes like me logo Genes that share domains with FAM126A: view

No data available for Gene Families for FAM126A Gene

Function for FAM126A Gene

Molecular function for FAM126A Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction: Down-regulated by beta-catenin.

Gene Ontology (GO) - Molecular Function for FAM126A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity NAS 10910037
genes like me logo Genes that share ontologies with FAM126A: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM126A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for FAM126A Gene

Localization for FAM126A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM126A Gene

Cytoplasm. Membrane. Note=According to PubMed:10910037, it is mainly cytoplasmic while according to PubMed:16951682, it is a membrane protein.

Subcellular locations from

Jensen Localization Image for FAM126A Gene COMPARTMENTS Subcellular localization image for FAM126A gene
Compartment Confidence
plasma membrane 4
cytosol 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAM126A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with FAM126A: view

Pathways for FAM126A Gene

SuperPathways for FAM126A Gene

No Data Available

Interacting Proteins for FAM126A Gene

Gene Ontology (GO) - Biological Process for FAM126A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction NAS 10910037
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FAM126A: view

No data available for Pathways by source for FAM126A Gene

Transcripts for FAM126A Gene

Unigene Clusters for FAM126A Gene

Family with sequence similarity 126, member A:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM126A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM126A Gene

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

Relevant External Links for FAM126A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM126A Gene

mRNA expression in normal human tissues for FAM126A Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for FAM126A Gene

SOURCE GeneReport for Unigene cluster for FAM126A Gene Hs.85603

mRNA Expression by UniProt/SwissProt for FAM126A Gene

Tissue specificity: Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.
genes like me logo Genes that share expressions with FAM126A: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for FAM126A Gene

Orthologs for FAM126A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM126A Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM126A 35
  • 99.68 (n)
  • 99.81 (a)
FAM126A 36
  • 100 (a)
(Bos Taurus)
Mammalia FAM126A 35
  • 93.67 (n)
  • 95.78 (a)
FAM126A 36
  • 96 (a)
(Canis familiaris)
Mammalia FAM126A 35
  • 95.14 (n)
  • 97.12 (a)
FAM126A 36
  • 89 (a)
(Mus musculus)
Mammalia Fam126a 35
  • 88.48 (n)
  • 91.75 (a)
Fam126a 16
Fam126a 36
  • 92 (a)
(Monodelphis domestica)
Mammalia FAM126A 36
  • 66 (a)
(Ornithorhynchus anatinus)
Mammalia FAM126A 36
  • 77 (a)
(Rattus norvegicus)
Mammalia Fam126a 35
  • 88.04 (n)
  • 91.17 (a)
(Gallus gallus)
Aves FAM126A 35
  • 79.18 (n)
  • 82.3 (a)
FAM126A 36
  • 83 (a)
(Anolis carolinensis)
Reptilia FAM126A 36
  • 72 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7050 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fam126a 35
  • 74.04 (n)
  • 80.3 (a)
Str.6563 35
(Danio rerio)
Actinopterygii fam126a 35
  • 58.9 (n)
  • 63.8 (a)
fam126a 36
  • 62 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007375 35
  • 42.57 (n)
  • 34.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6406 35
  • 41.46 (n)
  • 31.59 (a)
CG6406 36
  • 24 (a)
(Caenorhabditis elegans)
Secernentea D1069.3 36
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 21 (a)
Species with no ortholog for FAM126A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 FAM126A Gene

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

Paralogs for FAM126A Gene

Paralogs for FAM126A Gene

Selected SIMAP similar genes for FAM126A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with FAM126A: view

Variants for FAM126A Gene

Sequence variations from dbSNP and Humsavar for FAM126A Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs717901 -- 22,956,111(-) AATAA(A/G)CTTTA intron-variant
rs722699 -- 22,946,829(-) TAATG(C/T)TCTTT intron-variant
rs740830 -- 22,971,803(-) CAGGA(C/T)AGAAA intron-variant
rs1019183 -- 22,975,974(+) CTCAG(A/G)TTCTC intron-variant
rs1369758 -- 22,989,888(-) attgt(C/T)atgac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FAM126A Gene

Variant ID Type Subtype PubMed ID
nsv7393 OTHER Inversion 18451855
nsv526131 CNV Loss 19592680
nsv5660 CNV Loss 18451855

Relevant External Links for FAM126A Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM126A Gene

Disorders for FAM126A Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for FAM126A Gene including...

Search for FAM126A Gene in MalaCards »

(1) OMIM Diseases for FAM126A Gene (610531)


  • 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. {ECO:0000269 PubMed:16951682, ECO:0000269 PubMed:21911699}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAM126A

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with FAM126A: view

Publications for FAM126A Gene

  1. Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. (PMID: 16951682) Zara F. … Minetti C. (Nat. Genet. 2006) 2 3 4
  2. Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin. (PMID: 10910037) Kawasoe T. … Nakamura Y. (Cancer Res. 2000) 2 3 4
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  4. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for FAM126A Gene

Sources for FAM126A Gene

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