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Aliases for FAM126B Gene

Aliases for FAM126B Gene

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

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. An important paralog of this gene is FAM126A.

UniProtKB/Swiss-Prot for FAM126B Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM126B Gene

Genomics for FAM126B Gene

Regulatory Elements for FAM126B Gene

Enhancers for FAM126B 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
GH02F201114 1 FANTOM5 ENCODE 11.3 -52.5 -52545 19.0 YBX1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TBX21 MEF2D PPIL3 CFLAR ORC2 CASP10 LOC100130026 CLK1 CFLAR-AS1 FAM126B LOC105373835 LOC100420110
GH02F201251 1.6 FANTOM5 Ensembl ENCODE 2.6 -186.8 -186820 13.4 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF207 FOS CASP8 ALS2CR12 STRADB ENSG00000273209 PPIL3 CASP10 CLK1 CFLAR FAM126B
GH02F200962 1 FANTOM5 ENCODE 1.9 +107.9 107865 3.0 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 PPIL3 ORC2 KCTD18 CLK1 CASP8 FAM126B NIF3L1 CFLAR HNRNPA1P35
GH02F201437 0.4 FANTOM5 1.8 -366.4 -366384 0.2 CASP8 STRADB TMEM237 ALS2CR12 RNU6-651P CFLAR FAM126B ENSG00000202008 TRAK2
GH02F201113 0.3 FANTOM5 1.6 -42.3 -42257 0.1 PPIL3 CFLAR STRADB CLK1 CASP8 FAM126B TRAK2 LOC105373836 RPL17P10
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FAM126B on UCSC Golden Path with GeneCards custom track

Promoters for FAM126B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000306253 471 4001 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3

Genomic Location for FAM126B Gene

Chromosome:
2
Start:
200,973,718 bp from pter
End:
201,071,671 bp from pter
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

Protein Domains for FAM126B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM126B Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for FAM126B Gene

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.

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

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

Animal Model Products

miRNA for FAM126B Gene

miRTarBase miRNAs that target FAM126B

Inhibitory RNA Products

Flow Cytometry Products

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
Jensen Localization Image for FAM126B Gene COMPARTMENTS Subcellular localization image for FAM126B gene
Compartment Confidence
cytosol 4
nucleus 4
plasma membrane 3
peroxisome 1

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 IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with FAM126B: view

Pathways & Interactions for FAM126B Gene

SuperPathways for FAM126B Gene

No Data Available

Interacting Proteins for FAM126B Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000393667%0d%0a9606.ENSP00000416097%0d%0a
Selected Interacting proteins: ENSP00000393667 Q8IXS8-F126B_HUMAN for FAM126B Gene via STRING UniProtKB IID

Gene Ontology (GO) - Biological Process for FAM126B Gene

None

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

Transcripts for FAM126B Gene

Unigene Clusters for FAM126B Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for FAM126B Gene

GeneLoc Exon Structure for
FAM126B
ECgene alternative splicing isoforms 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

NURSA nuclear receptor signaling pathways regulating expression of FAM126B Gene:

FAM126B

SOURCE GeneReport for Unigene cluster for FAM126B Gene:

Hs.24701
genes like me logo Genes that share expression patterns with FAM126B: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.87 (n)
dog
(Canis familiaris)
Mammalia FAM126B 34 35
  • 94.91 (n)
cow
(Bos Taurus)
Mammalia FAM126B 34 35
  • 94.21 (n)
mouse
(Mus musculus)
Mammalia Fam126b 34 16 35
  • 91.82 (n)
rat
(Rattus norvegicus)
Mammalia Fam126b 34
  • 90.99 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM126B 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM126B 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM126B 34 35
  • 82.2 (n)
lizard
(Anolis carolinensis)
Reptilia FAM126B 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam126b 34
  • 75.17 (n)
zebrafish
(Danio rerio)
Actinopterygii FAM126B (2 of 3) 35
  • 71 (a)
OneToMany
FAM126B (3 of 3) 35
  • 66 (a)
OneToMany
LOC100536464 34
  • 65.05 (n)
FAM126B (1 of 3) 35
  • 55 (a)
OneToMany
Dr.16317 34
fruit fly
(Drosophila melanogaster)
Insecta CG6406 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea D1069.3 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToMany
Species where no ortholog for FAM126B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for FAM126B Gene

Paralogs for FAM126B Gene

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

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

Variants for FAM126B Gene

Sequence variations from dbSNP and Humsavar for FAM126B Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10084309 -- 201,064,359(+) TGATC(A/G)TGACG intron-variant
rs10084461 -- 201,064,194(+) TACTC(A/C)TGTGT intron-variant
rs10084462 -- 201,064,235(+) GACTA(A/G)TTGTA intron-variant
rs10185136 -- 201,039,578(+) TTTTT(C/T)GGTCA intron-variant
rs10192106 -- 201,006,781(+) TATTG(A/G)CATTG intron-variant

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)

Relevant External Links for FAM126B Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM126B Gene

Disorders for FAM126B Gene

Relevant External Links for FAM126B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM126B

No disorders were found for FAM126B Gene.

No data available for MalaCards , 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. (Nat. Genet. 2004) 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  4. 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) 4 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for FAM126B Gene

Sources for FAM126B Gene

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