Free for academic non-profit institutions. Other users need a Commercial license

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

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 hypomyelination and congenital cataract and leukodystrophy, hypomyelinating, 5. 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

Genomic Location for FAM126A Gene

Start:
22,889,371 bp from pter
End:
23,014,195 bp from pter
Size:
124,825 bases
Orientation:
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

Regulatory Elements for FAM126A Gene

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

Proteins for FAM126A Gene

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

    Protein Symbol:
    Q9BYI3-HYCCI_HUMAN
    Recommended name:
    Hyccin
    Protein Accession:
    Q9BYI3
    Secondary Accessions:
    • A4D145
    • Q6N010
    • Q75MR4
    • Q7LDZ4
    • Q96MX1
    • Q96NQ6

    Protein attributes for FAM126A Gene

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

    Alternative splice isoforms for FAM126A Gene

    UniProtKB/Swiss-Prot:

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

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

HYCCI_HUMAN
Family:
  • Belongs to the FAM126 family.:
    • Q9BYI3
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

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

COMPARTMENTS
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:

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: -
SP4:
SP5: -
SP6:

Relevant External Links for FAM126A Gene

GeneLoc Exon Structure for
FAM126A
ECgene alternative splicing isoforms for
FAM126A

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

Q9BYI3-HYCCI_HUMAN
Tissue specificity: Widely expressed. Highest levels in heart, brain, placenta, spleen and testis.
genes like me logo Genes that share expressions with FAM126A: view

Orthologs for FAM126A Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM126A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM126A 36
  • 99.68 (n)
  • 99.81 (a)
FAM126A 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM126A 36
  • 93.67 (n)
  • 95.78 (a)
FAM126A 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM126A 36
  • 95.14 (n)
  • 97.12 (a)
FAM126A 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam126a 36
  • 88.48 (n)
  • 91.75 (a)
Fam126a 16
Fam126a 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM126A 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM126A 37
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam126a 36
  • 88.04 (n)
  • 91.17 (a)
chicken
(Gallus gallus)
Aves FAM126A 36
  • 79.18 (n)
  • 82.3 (a)
FAM126A 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM126A 37
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7050 36
tropical clawed frog
(Silurana tropicalis)
Amphibia fam126a 36
  • 74.04 (n)
  • 80.3 (a)
Str.6563 36
zebrafish
(Danio rerio)
Actinopterygii fam126a 36
  • 58.9 (n)
  • 63.8 (a)
fam126a 37
  • 62 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007375 36
  • 42.57 (n)
  • 34.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6406 36
  • 41.46 (n)
  • 31.59 (a)
CG6406 37
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D1069.3 37
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 21 (a)
OneToMany
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

ENSEMBL:
Gene Tree for FAM126A (if available)
TreeFam:
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
FAM126A
Human Gene Mutation Database (HGMD)
FAM126A

Disorders for FAM126A Gene

(1) OMIM Diseases for FAM126A Gene (610531)

UniProtKB/Swiss-Prot

HYCCI_HUMAN
  • 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

GeneTests
FAM126A
GeneReviews
FAM126A
Genetic Association Database (GAD)
FAM126A
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

Back to Top

Content