Aliases for FAM124A Gene

Aliases for FAM124A Gene

  • Family With Sequence Similarity 124 Member A 2 3 5
  • Family With Sequence Similarity 124A 2 3
  • Protein FAM124A 3 4

External Ids for FAM124A Gene

Previous GeneCards Identifiers for FAM124A Gene

  • GC13P050695
  • GC13P051796
  • GC13P032585

Summaries for FAM124A Gene

GeneCards Summary for FAM124A Gene

FAM124A (Family With Sequence Similarity 124 Member A) is a Protein Coding gene. Diseases associated with FAM124A include Aicardi-Goutieres Syndrome. An important paralog of this gene is FAM124B.

Additional gene information for FAM124A 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 FAM124A Gene

Genomics for FAM124A Gene

GeneHancer (GH) Regulatory Elements for FAM124A Gene

Promoters and enhancers for FAM124A 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
GH13J051221 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 509.7 +0.7 667 2.8 CTCF POLR2A ZBTB26 KLF7 EZH2 MXI1 ZNF341 HDAC2 MYC KLF9 FAM124A NONHSAG013545.2 lnc-SERPINE3-2
GH13J051240 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 19 +21.4 21367 8.2 USF1 TEAD4 HDAC2 MXI1 POLR2A YY1 NANOG TCF12 NR2F2 PTBP1 FAM124A INTS6 DHRS12 ALG11 lnc-SERPINE3-2
GH13J051261 Enhancer 0.8 Ensembl ENCODE dbSUPER 18.4 +37.1 37067 1.6 USF1 ZIC2 SPI1 MITF TOE1 RAD51 SCRT2 lnc-SERPINE3-2 FAM124A UTP14C
GH13J051260 Enhancer 0.9 Ensembl ENCODE dbSUPER 16.8 +39.7 39667 2.8 CTCF USF1 ZIC2 ZNF423 ZNF266 TCF12 GLIS1 RAD21 ATF2 CTCFL lnc-SERPINE3-2 FAM124A SERPINE3 ALG11 RPS4XP16 lnc-INTS6-1
GH13J051167 Promoter/Enhancer 0.9 Ensembl ENCODE 16.1 -52.0 -52014 6.2 TEAD4 POLR2A TCF12 SIN3A CEBPB CHD1 TAF1 GTF2F1 TBP POU5F1 piR-32559-109 C13orf42 FAM124A NEK3 lnc-C13orf42-1 piR-37656-065 piR-41792
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM124A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM124A

Top Transcription factor binding sites by QIAGEN in the FAM124A gene promoter:
  • AML1a
  • FOXJ2
  • FOXJ2 (long isoform)
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pbx1a

Genomic Locations for FAM124A Gene

Genomic Locations for FAM124A Gene
chr13:51,222,334-51,284,241
(GRCh38/hg38)
Size:
61,908 bases
Orientation:
Plus strand
chr13:51,796,470-51,858,377
(GRCh37/hg19)
Size:
61,908 bases
Orientation:
Plus strand

Genomic View for FAM124A Gene

Genes around FAM124A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM124A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM124A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM124A Gene

Proteins for FAM124A Gene

  • Protein details for FAM124A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86V42-F124A_HUMAN
    Recommended name:
    Protein FAM124A
    Protein Accession:
    Q86V42
    Secondary Accessions:
    • A2A324
    • Q8N8P9
    • Q8NE66
    • Q96NJ9

    Protein attributes for FAM124A Gene

    Size:
    546 amino acids
    Molecular mass:
    60104 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH34497.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM124A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM124A Gene

Post-translational modifications for FAM124A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM124A Gene

No data available for DME Specific Peptides for FAM124A Gene

Domains & Families for FAM124A Gene

Gene Families for FAM124A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM124A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM124A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM124A (F124A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86V42

UniProtKB/Swiss-Prot:

F124A_HUMAN :
  • Belongs to the FAM124 family.
Family:
  • Belongs to the FAM124 family.
genes like me logo Genes that share domains with FAM124A: view

Function for FAM124A Gene

Phenotypes From GWAS Catalog for FAM124A Gene

Gene Ontology (GO) - Molecular Function for FAM124A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM124A: view

Phenotypes for FAM124A Gene

genes like me logo Genes that share phenotypes with FAM124A: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM124A Gene

Localization for FAM124A Gene

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 FAM124A gene
Compartment Confidence
nucleus 3
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM124A Gene

Pathways & Interactions for FAM124A Gene

PathCards logo

SuperPathways for FAM124A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM124A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM124A Gene

Drugs & Compounds for FAM124A Gene

No Compound Related Data Available

Transcripts for FAM124A Gene

mRNA/cDNA for FAM124A Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM124A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b
SP1: -
SP2: - -
SP3:

Relevant External Links for FAM124A Gene

GeneLoc Exon Structure for
FAM124A

Expression for FAM124A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM124A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM124A Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.2).

Protein differential expression in normal tissues from HIPED for FAM124A Gene

This gene is overexpressed in Monocytes (18.0), Spleen (11.1), Uterus (7.7), and Lymph node (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM124A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM124A

SOURCE GeneReport for Unigene cluster for FAM124A Gene:

Hs.71913

Evidence on tissue expression from TISSUES for FAM124A Gene

  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with FAM124A: view

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM124A Gene

Orthologs for FAM124A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM124A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM124A 31 30
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM124A 31 30
  • 86.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM124A 31 30
  • 82.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam124a 17 31 30
  • 79.23 (n)
rat
(Rattus norvegicus)
Mammalia Fam124a 30
  • 78.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM124A 31
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM124A 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM124A 31 30
  • 63.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM124A 31
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam124a 30
  • 60.03 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC556683 30
  • 56.03 (n)
FAM124A 31
  • 39 (a)
OneToOne
Species where no ortholog for FAM124A 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)
  • 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 squirt (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 FAM124A Gene

ENSEMBL:
Gene Tree for FAM124A (if available)
TreeFam:
Gene Tree for FAM124A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM124A: view image

Paralogs for FAM124A Gene

Paralogs for FAM124A Gene

(1) SIMAP similar genes for FAM124A Gene using alignment to 1 proteins:

  • F124A_HUMAN
genes like me logo Genes that share paralogs with FAM124A: view

Variants for FAM124A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM124A Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
774907 Benign: not provided 51,251,465(+) C/T INTRON_VARIANT
776797 Benign: not provided 51,280,956(+) C/T SYNONYMOUS_VARIANT
785447 Benign: not provided 51,280,907(+) A/G MISSENSE_VARIANT
787411 Benign: not provided 51,251,598(+) G/A SYNONYMOUS_VARIANT
rs17075482 - p.Asp181His

Additional dbSNP identifiers (rs#s) for FAM124A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM124A Gene

Variant ID Type Subtype PubMed ID
esv2747418 CNV deletion 23290073
esv3550464 CNV deletion 23714750
nsv1069753 CNV deletion 25765185
nsv1118264 CNV deletion 24896259
nsv1145663 CNV deletion 24896259
nsv561618 CNV loss 21841781
nsv832610 CNV gain 17160897
nsv832611 CNV loss 17160897

Variation tolerance for FAM124A Gene

Residual Variation Intolerance Score: 74.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.81; 79.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM124A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM124A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM124A Gene

Disorders for FAM124A Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM124A Gene - From: DISEASES

Disorder Aliases PubMed IDs
aicardi-goutieres syndrome
  • aicardi-goutieres syndrome 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM124A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM124A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM124A Gene

Publications for FAM124A Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 54
  4. An inter-species protein-protein interaction network across vast evolutionary distance. (PMID: 27107014) Zhong Q … Vidal M (Molecular systems biology 2016) 3 54
  5. A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides. (PMID: 24532677) Bossini-Castillo L … Koeleman BP (Annals of the rheumatic diseases 2015) 3 54

Products for FAM124A Gene

  • Biorbyt antibodies for FAM124A

Sources for FAM124A Gene