Aliases for FAM126B Gene

Aliases for FAM126B Gene

  • Family With Sequence Similarity 126 Member B 2 3 5
  • Protein FAM126B 3 4
  • HYCC2 2 3
  • Family With Sequence Similarity 126, Member B 2
  • MGC39518 2
  • FAM126B 5

External Ids for FAM126B Gene

Previous GeneCards Identifiers for FAM126B Gene

  • GC02M201551
  • GC02M201838
  • GC02M193689

Summaries for FAM126B Gene

GeneCards Summary for FAM126B Gene

FAM126B (Family With Sequence Similarity 126 Member B) is a Protein Coding gene. Diseases associated with FAM126B include Hypomyelinating Leukoencephalopathy and Leukodystrophy. An important paralog of this gene is FAM126A.

UniProtKB/Swiss-Prot Summary for FAM126B Gene

  • Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane.

Additional gene information for FAM126B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM126B Gene

Genomics for FAM126B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM126B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM126B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM126B

Top Transcription factor binding sites by QIAGEN in the FAM126B gene promoter:
  • AML1a
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • HEN1
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for FAM126B Gene

Genomic Locations for FAM126B Gene
chr2:200,973,718-201,071,671
(GRCh38/hg38)
Size:
97,954 bases
Orientation:
Minus strand
chr2:201,838,441-201,936,394
(GRCh37/hg19)
Size:
97,954 bases
Orientation:
Minus strand

Genomic View for FAM126B Gene

Genes around FAM126B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM126B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM126B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM126B Gene

Proteins for FAM126B Gene

  • Protein details for FAM126B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXS8-F126B_HUMAN
    Recommended name:
    Protein FAM126B
    Protein Accession:
    Q8IXS8
    Secondary Accessions:
    • B2RCG7
    • Q4ZG87
    • Q53TX6

    Protein attributes for FAM126B Gene

    Size:
    530 amino acids
    Molecular mass:
    58647 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).

neXtProt entry for FAM126B Gene

Post-translational modifications for FAM126B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM126B Gene

Domains & Families for FAM126B Gene

Gene Families for FAM126B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM126B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM126B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ42190 fis, clone THYMU2032825, moderately similar to Down-regulated by CTNNB1 protein A (B3KW57_HUMAN)
  • Protein FAM126B (F126B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IXS8

UniProtKB/Swiss-Prot:

F126B_HUMAN :
  • Belongs to the FAM126 family.
Family:
  • Belongs to the FAM126 family.
genes like me logo Genes that share domains with FAM126B: view

Function for FAM126B Gene

Molecular function for FAM126B Gene

UniProtKB/Swiss-Prot Function:
Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane.

Phenotypes From GWAS Catalog for FAM126B Gene

Gene Ontology (GO) - Molecular Function for FAM126B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM126B: view

Phenotypes for FAM126B Gene

genes like me logo Genes that share phenotypes with FAM126B: view

Animal Model Products

CRISPR Products

miRNA for FAM126B Gene

miRTarBase miRNAs that target FAM126B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM126B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM126B Gene

Localization for FAM126B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM126B Gene

Cytoplasm, cytosol. Cell membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAM126B gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 3
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM126B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FAM126B: view

Pathways & Interactions for FAM126B Gene

PathCards logo

SuperPathways for FAM126B Gene

No Data Available

Interacting Proteins for FAM126B Gene

Gene Ontology (GO) - Biological Process for FAM126B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046854 phosphatidylinositol phosphorylation IBA 21873635
GO:0072659 protein localization to plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with FAM126B: view

No data available for Pathways by source and SIGNOR curated interactions for FAM126B Gene

Drugs & Compounds for FAM126B Gene

No Compound Related Data Available

Transcripts for FAM126B Gene

mRNA/cDNA for FAM126B Gene

12 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM126B

Alternative Splicing Database (ASD) splice patterns (SP) for FAM126B Gene

No ASD Table

Relevant External Links for FAM126B Gene

GeneLoc Exon Structure for
FAM126B

Expression for FAM126B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM126B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM126B Gene

This gene is overexpressed in Whole Blood (x5.5).

Protein differential expression in normal tissues from HIPED for FAM126B Gene

This gene is overexpressed in Retina (19.7), Peripheral blood mononuclear cells (15.5), Frontal cortex (12.3), Placenta (11.2), and CD8 Tcells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM126B Gene



Protein tissue co-expression partners for FAM126B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM126B

SOURCE GeneReport for Unigene cluster for FAM126B Gene:

Hs.24701

Evidence on tissue expression from TISSUES for FAM126B Gene

  • Nervous system(4.5)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with FAM126B: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM126B Gene

Orthologs for FAM126B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM126B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM126B 30 31
  • 99.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM126B 30 31
  • 94.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM126B 30 31
  • 94.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam126b 30 17 31
  • 91.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam126b 30
  • 90.99 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM126B 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM126B 31
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM126B 30 31
  • 82.2 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM126B 31
  • 87 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam126b 30
  • 75.17 (n)
Zebrafish
(Danio rerio)
Actinopterygii FAM126B (2 of 3) 31
  • 71 (a)
OneToMany
FAM126B (3 of 3) 31
  • 66 (a)
OneToMany
LOC100536464 30
  • 65.05 (n)
FAM126B (1 of 3) 31
  • 55 (a)
OneToMany
Dr.16317 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG6406 31
  • 24 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea D1069.3 31
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
OneToMany
Species where no ortholog for FAM126B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 Vase (Ciona intestinalis)
  • 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 FAM126B Gene

ENSEMBL:
Gene Tree for FAM126B (if available)
TreeFam:
Gene Tree for FAM126B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM126B: view image

Paralogs for FAM126B Gene

Paralogs for FAM126B Gene

(2) SIMAP similar genes for FAM126B Gene using alignment to 5 proteins:

  • F126B_HUMAN
  • C9J115_HUMAN
  • C9JNS4_HUMAN
  • C9JTA1_HUMAN
  • F8W7X4_HUMAN
genes like me logo Genes that share paralogs with FAM126B: view

Variants for FAM126B Gene

Additional dbSNP identifiers (rs#s) for FAM126B Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM126B Gene

Variant ID Type Subtype PubMed ID
esv3560818 CNV deletion 23714750
esv3593970 CNV loss 21293372
nsv584160 CNV loss 21841781
nsv963759 CNV duplication 23825009

Variation tolerance for FAM126B Gene

Residual Variation Intolerance Score: 7.16% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM126B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM126B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM126B Gene

Disorders for FAM126B Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM126B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hypomyelinating leukoencephalopathy
leukodystrophy
  • leukodystrophies
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with FAM126B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM126B Gene

Publications for FAM126B Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Inflammation-dependent overexpression of c-Myc enhances CRL4DCAF4 E3 ligase activity and promotes ubiquitination of ST7 in colitis-associated cancer. (PMID: 30945288) Liu H … Yang C (The Journal of pathology 2019) 3

Products for FAM126B Gene

Sources for FAM126B Gene