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Aliases for FAM126A Gene

Aliases for FAM126A Gene

  • Family With Sequence Similarity 126 Member A 2 3 5
  • Down-Regulated By CTNNB1 Protein A 3 4
  • Down Regulated By Ctnnb1, A 2 3
  • DRCTNNB1A 3 4
  • Family With Sequence Similarity 126, Member A 2
  • Protein FAM126A 4
  • Hyccin 3
  • HYCC1 3
  • HLD5 3
  • HCC 3

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 Hypomyelinating Leukodystrophy. GO annotations related to this gene include signal transducer activity. An important paralog of this gene is FAM126B.

UniProtKB/Swiss-Prot for FAM126A Gene

  • Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway (Probable).

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

Enhancers for FAM126A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F022988 0.8 Ensembl ENCODE 25.6 +24.4 24429 3.0 POU5F1 FOS CREM FAM126A TOMM7 ENSG00000226329 GPNMB PIR51294
GH07F022979 1.1 Ensembl ENCODE 25.1 +33.9 33914 2.0 CTCF SOX13 TAL1 JUN FOSL1 ZNF316 FOS TRIM24 MAFK NFE2L2 FAM126A PIR51294
GH07F022943 0.2 ENCODE 23.2 +69.3 69311 2.5 SMC3 FOS REST MAFK FAM126A TOMM7 PIR51294
GH07F022942 0.4 ENCODE 23 +71.8 71814 0.7 FAM126A PIR51294
GH07F022884 1.1 FANTOM5 Ensembl ENCODE 18.7 +128.5 128499 1.9 TBP PKNOX1 WRNIP1 ETV1 MAX SIN3A EBF1 RELA EGR1 CBX5 FAM126A ENSG00000228649 ENSG00000226329 GC07P022881 PIR51294
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FAM126A on UCSC Golden Path with GeneCards custom track

Promoters for FAM126A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001557989 895 2601 HDGF ATF1 PKNOX1 ARID4B SIN3A ZNF48 BRCA1 ZNF2 YY1 GLIS2

Genomic Location for FAM126A Gene

Chromosome:
7
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

Genes around FAM126A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM126A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    Q9BYI3-HYCCI_HUMAN
    Recommended name:
    Hyccin
    Protein Accession:
    Q9BYI3
    Secondary Accessions:
    • A0A024RA06
    • A4D145
    • B8ZZJ1
    • Q6N010
    • Q75MR4
    • Q7LDZ4
    • Q96MX1
    • Q96NQ6

    Protein attributes for FAM126A Gene

    Size:
    521 amino acids
    Molecular mass:
    57625 Da
    Quaternary structure:
    • Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and FAM126 (FAM126A or FAM126B) (PubMed:26571211). Interacts with TTC7 (TTC7A or TTC7B), interaction is direct (PubMed:26571211).

    Three dimensional structures from OCA and Proteopedia for FAM126A Gene

    Alternative splice isoforms for FAM126A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM126A Gene

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 & Families for FAM126A Gene

Protein Domains for FAM126A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM126A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYI3

UniProtKB/Swiss-Prot:

HYCCI_HUMAN :
  • Belongs to the FAM126 family.
Family:
  • 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:
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane (PubMed:26571211). The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis (PubMed:26571211). FAM126A plays a key role in oligodendrocytes formation, a cell type with expanded plasma membrane that requires generation of PtdIns(4)P (PubMed:26571211). Its role in oligodendrocytes formation probably explains its importance in myelination of the central and peripheral nervous system (PubMed:26571211, PubMed:16951682). May also have a role in the beta-catenin/Lef signaling pathway (Probable).
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
GO:0005515 protein binding IPI 26571211
genes like me logo Genes that share ontologies with FAM126A: view

Phenotypes for FAM126A Gene

MGI mutant phenotypes for FAM126A:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with FAM126A: view

Human Phenotype Ontology for FAM126A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FAM126A Gene

MGI Knock Outs for FAM126A:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FAM126A Gene

Localization for FAM126A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM126A Gene

Cytoplasm, cytosol. Cell membrane. Note=Localizes to the cytosol and is recruited to the plasma membrane following interaction with other components of the phosphatidylinositol 4-kinase (PI4K) complex. {ECO:0000269 PubMed:26571211}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM126A Gene COMPARTMENTS Subcellular localization image for FAM126A gene
Compartment Confidence
cytosol 5
plasma membrane 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAM126A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol IEA,IDA 26571211
GO:0005886 plasma membrane IEA,IDA 26571211
GO:0016020 membrane IEA --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with FAM126A: view

Pathways & Interactions for FAM126A Gene

SuperPathways for FAM126A Gene

No Data Available

Interacting Proteins for FAM126A Gene

Selected Interacting proteins: Q9BYI3-HYCCI_HUMAN for FAM126A Gene via IID

Symbol External ID(s) Details
LPAR6
P2RY8

Gene Ontology (GO) - Biological Process for FAM126A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0042552 myelination ISS --
GO:0046854 phosphatidylinositol phosphorylation IDA 26571211
GO:0090002 establishment of protein localization to plasma membrane IDA 26571211
genes like me logo Genes that share ontologies with FAM126A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM126A Gene

Transcripts for FAM126A Gene

Unigene Clusters for FAM126A Gene

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

Inhibitory RNA 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: -
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 from GTEx, Illumina, BioGPS, and SAGE for FAM126A Gene

Protein differential expression in normal tissues from HIPED for FAM126A Gene

This gene is overexpressed in Bone (22.8), Plasma (20.4), and Placenta (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM126A Gene



NURSA nuclear receptor signaling pathways regulating expression of FAM126A Gene:

FAM126A

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 expression patterns with FAM126A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia FAM126A 34 35
  • 99.68 (n)
dog
(Canis familiaris)
Mammalia FAM126A 34 35
  • 95.14 (n)
cow
(Bos Taurus)
Mammalia FAM126A 34 35
  • 93.67 (n)
mouse
(Mus musculus)
Mammalia Fam126a 34 16 35
  • 88.48 (n)
rat
(Rattus norvegicus)
Mammalia Fam126a 34
  • 88.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM126A 35
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM126A 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM126A 34 35
  • 79.18 (n)
lizard
(Anolis carolinensis)
Reptilia FAM126A 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam126a 34
  • 74.04 (n)
Str.6563 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.7050 34
zebrafish
(Danio rerio)
Actinopterygii fam126a 34 35
  • 58.9 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007375 34
  • 42.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6406 34 35
  • 41.46 (n)
worm
(Caenorhabditis elegans)
Secernentea D1069.3 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 21 (a)
OneToMany
Species where no ortholog for FAM126A was found in the sources mined by GeneCards:
  • 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

(2) 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
rs72549407 Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532], Pathogenic 22,978,444(-) GTTGC(C/G/T)AGAAC reference, missense
VAR_075100 Leukodystrophy, hypomyelinating, 5 (HLD5) [MIM:610532]
rs72549405 Pathogenic 22,991,060(-) TTAAG(A/G)TAATA splice-donor-variant
rs72549406 Pathogenic 22,977,340(-) ATGAA(C/G/T)TAAGT splice-donor-variant
rs3735231 Benign 22,976,212(-) TGTTC(A/G)AGGTA reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv3612531 CNV loss 21293372
nsv1017243 CNV gain 25217958
nsv1027363 CNV gain 25217958
nsv526131 CNV loss 19592680
nsv5660 CNV deletion 18451855
nsv7393 OTHER inversion 18451855

Variation tolerance for FAM126A Gene

Residual Variation Intolerance Score: 70.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM126A Gene

Human Gene Mutation Database (HGMD)
FAM126A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM126A

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

Disorders for FAM126A Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM126A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leukodystrophy, hypomyelinating, 5
  • hypomyelinating leukodystrophy 5
hypomyelinating leukodystrophy
  • hld
leukodystrophy
  • leukodystrophies
- elite association - COSMIC cancer census association via MalaCards

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, ECO:0000269 PubMed:23998934}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAM126A

Genetic Association Database (GAD)
FAM126A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM126A
genes like me logo Genes that share disorders with FAM126A: view

No data available for Genatlas for FAM126A Gene

Publications for FAM126A Gene

  1. The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasmaA membrane. (PMID: 26571211) Baskin J.M. … De Camilli P. (Nat. Cell Biol. 2015) 2 3 4 64
  2. 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 64
  3. 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 64
  4. Novel FAM126A mutations in hypomyelination and congenital cataract disease. (PMID: 23998934) Traverso M. … Biancheri R. (Biochem. Biophys. Res. Commun. 2013) 3 4 64
  5. Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder. (PMID: 21254220) Jiang Y. … Zhang H. (Genet. Epidemiol. 2011) 3 46 64

Products for FAM126A Gene

Sources for FAM126A Gene

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