FAM124B Gene (Protein Coding)

Family With Sequence Similarity 124 Member B

GC02M224378
GIFtS:
34
See more...

Aliases for FAM124B Gene

Aliases for FAM124B Gene

  • Family With Sequence Similarity 124 Member B 2 3 5
  • Family With Sequence Similarity 124B 2 3
  • Protein FAM124B 3 4
  • FLJ22746 2
  • FAM124B 5

External Ids for FAM124B Gene

Previous GeneCards Identifiers for FAM124B Gene

  • GC02M224951
  • GC02M224806
  • GC02M225243
  • GC02M217095

Summaries for FAM124B Gene

GeneCards Summary for FAM124B Gene

FAM124B (Family With Sequence Similarity 124 Member B) is a Protein Coding gene. Diseases associated with FAM124B include Galactosemia I and Charge Syndrome. An important paralog of this gene is FAM124A.

Additional gene information for FAM124B Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM124B Gene

Genomics for FAM124B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FAM124B Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH02J224399 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 257.2 +0.8 824 4.2 TBP MNT SMAD5 BHLHE40 ARNT ZNF395 REST NBN GABPA TAF9B FAM124B ANKRD49P1 piR-35031-028 SERPINE2
GH02J224433 Promoter/Enhancer 1 EPDnew Ensembl ENCODE 267 -31.7 -31731 1.1 YY1 TAF1 SP1 POU5F1 NANOG POLR2A CHD2 KDM1A FAM124B ANKRD49P1 CUL3 ENSG00000274629 HSALNG0022638 HSALNG0022631
GH02J224360 Enhancer 0.7 Ensembl 16.7 +41.3 41306 1.2 FEZF1 ZEB1 CEBPB CUX1 ZNF639 EP300 PRDM1 ZNF843 BCL11B JUND FAM124B WDFY1 HSALNG0022625 HSALNG0022624 SERPINE2
GH02J224442 Promoter/Enhancer 0.7 FANTOM5 CraniofacialAtlas 15.8 -40.6 -40583 0.4 YY1 POLR2A ENSG00000274629 HSALNG0022637 HSALNG0022638 FAM124B ANKRD49P1 CUL3
GH02J224369 Enhancer 0.7 Ensembl ENCODE 16.4 +32.9 32915 0.4 CTCF FOXA2 SMC3 RAD21 FOXA1 TRIM22 FOXA3 ZNF654 FAM124B HSALNG0022625 RF00994-560 SERPINE2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM124B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM124B

Top Transcription factor binding sites by QIAGEN in the FAM124B gene promoter:
  • AP-1
  • c-Fos
  • c-Jun
  • COMP1
  • HEN1
  • Ik-3
  • LCR-F1
  • MyoD
  • RSRFC4
  • STAT5A

Genomic Locations for FAM124B Gene

Latest Assembly
chr2:224,378,698-224,402,107
(GRCh38/hg38)
Size:
23,410 bases
Orientation:
Minus strand

Previous Assembly
chr2:225,243,415-225,266,824
(GRCh37/hg19 by Entrez Gene)
Size:
23,410 bases
Orientation:
Minus strand

chr2:225,243,415-225,266,802
(GRCh37/hg19 by Ensembl)
Size:
23,388 bases
Orientation:
Minus strand

Genomic View for FAM124B Gene

Genes around FAM124B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM124B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM124B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FAM124B Gene

Proteins for FAM124B Gene

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  2. Protein products for research
  3. Assay products for research

  • Protein details for FAM124B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H5Z6-F124B_HUMAN
    Recommended name:
    Protein FAM124B
    Protein Accession:
    Q9H5Z6
    Secondary Accessions:
    • A6NNC7
    • Q8NBZ4
    • Q8TAV7

    Protein attributes for FAM124B Gene

    Size:
    455 amino acids
    Molecular mass:
    50961 Da
    Quaternary structure:
    • Interacts with CHD7 and CHD8.
    SequenceCaution:
    • Sequence=BAB15471.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM124B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM124B Gene

Protein Expression for FAM124B Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FAM124B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM124B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM124B Gene

Domains & Families for FAM124B Gene

Gene Families for FAM124B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM124B Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
ProtoNet:

Suggested Antigen Peptide Sequences for FAM124B Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM124B (F124B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H5Z6

UniProtKB/Swiss-Prot:

F124B_HUMAN :
  • Belongs to the FAM124 family.
Family:
  • Belongs to the FAM124 family.
genes like me logo Genes that share domains with FAM124B: view

Function for FAM124B Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Phenotypes From GWAS Catalog for FAM124B Gene

Gene Ontology (GO) - Molecular Function for FAM124B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with FAM124B: view

Phenotypes for FAM124B Gene

MGI mutant phenotypes for FAM124B:
inferred from 1 alleles
GenomeRNAi human phenotypes for FAM124B:
genes like me logo Genes that share phenotypes with FAM124B: view

Animal Models for research

miRNA for FAM124B Gene

miRTarBase miRNAs that target FAM124B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM124B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM124B Gene

Localization for FAM124B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM124B Gene

Nucleus.

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 FAM124B gene
Compartment Confidence
mitochondrion 4
nucleus 4
plasma membrane 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Mitochondria (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM124B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IBA,IDA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with FAM124B: view

Pathways & Interactions for FAM124B Gene

PathCards logo

SuperPathways for FAM124B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM124B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM124B Gene

Drugs & Compounds for FAM124B Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for FAM124B Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for FAM124B Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM124B

Alternative Splicing Database (ASD) splice patterns (SP) for FAM124B Gene

ExUns: 1a · 1b ^ 2 ^ 3
SP1:
SP2: -

Relevant External Links for FAM124B Gene

GeneLoc Exon Structure for
FAM124B

Expression for FAM124B Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM124B Gene

mRNA expression in normal human tissues for FAM124B Gene
mRNA expression by GTEx for FAM124B GenemRNA expression by BioGPS for FAM124B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM124B Gene

This gene is overexpressed in Adipose - Subcutaneous (x4.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM124B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM124B

SOURCE GeneReport for Unigene cluster for FAM124B Gene:

Hs.147585

Evidence on tissue expression from TISSUES for FAM124B Gene

  • Lung(4)
  • Heart(4)
genes like me logo Genes that share expression patterns with FAM124B: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM124B Gene

Orthologs for FAM124B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM124B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FAM124B 30 31
  • 99.05 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FAM124B 30 31
  • 81.04 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FAM124B 30 31
  • 79.62 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fam124b 30
  • 75.98 (n)
Mouse
(Mus musculus)
 Mammalia Fam124b 30 17 31
  • 75.38 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia FAM124B 31
  • 57 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FAM124B 31
  • 51 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FAM124B 30 31
  • 64.41 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FAM124B 31
  • 44 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fam124b 30
  • 54.91 (n)
Str.19998 30
Zebrafish
(Danio rerio)
 Actinopterygii LOC572460 30
  • 54.9 (n)
FAM124B 31
  • 38 (a)
 OneToOne
Species where no ortholog for FAM124B 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for FAM124B Gene

ENSEMBL:
Gene Tree for FAM124B (if available)
TreeFam:
Gene Tree for FAM124B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM124B: view image

Paralogs for FAM124B Gene

Paralogs for FAM124B Gene

(1) SIMAP similar genes for FAM124B Gene using alignment to 1 proteins:

  • F124B_HUMAN
genes like me logo Genes that share paralogs with FAM124B: view

Variants for FAM124B Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM124B Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs3738954 - p.Ile257Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAM124B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for FAM124B Gene

Residual Variation Intolerance Score: 63.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.87; 48.37% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM124B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM124B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FAM124B Gene

Disorders for FAM124B Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM124B Gene - From: COP

Disorder Aliases PubMed IDs
galactosemia i
  • galac1
charge syndrome
  • charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM124B

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FAM124B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM124B Gene

Publications for FAM124B Gene

  1. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. (PMID: 23285124) Batsukh T … Pauli S (PloS one 2012) 2 3 4
  2. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  3. FBXL13 directs the proteolysis of CEP192 to regulate centrosome homeostasis and cell migration. (PMID: 29348145) Fung E … D'Angiolella V (EMBO reports 2018) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4

ExternalLinks

View latest publications for FAM124B gene in Mastermind

Products for FAM124B Gene

Sources for FAM124B Gene