Aliases for FAM167A Gene

Aliases for FAM167A Gene

  • Family With Sequence Similarity 167 Member A 2 3 5
  • Disordered Autoimmunity 1 2 3
  • Protein FAM167A 3 4
  • C8orf13 3 4
  • DIORA-1 2 3
  • Family With Sequence Similarity 167, Member A 2
  • Chromosome 8 Open Reading Frame 13 2
  • FAM167A 5
  • D8S265 3

External Ids for FAM167A Gene

Previous HGNC Symbols for FAM167A Gene

  • C8orf13

Previous GeneCards Identifiers for FAM167A Gene

  • GC08M011317
  • GC08M010209
  • GC08M011278

Summaries for FAM167A Gene

GeneCards Summary for FAM167A Gene

FAM167A (Family With Sequence Similarity 167 Member A) is a Protein Coding gene. Diseases associated with FAM167A include Maturity-Onset Diabetes Of The Young, Type 11 and Maturity-Onset Diabetes Of The Young. An important paralog of this gene is FAM167B.

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 FAM167A Gene

Genomics for FAM167A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM167A 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 FAM167A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM167A

Top Transcription factor binding sites by QIAGEN in the FAM167A gene promoter:
  • AREB6
  • c-Myb
  • FOXC1
  • FOXD3
  • POU6F1 (c2)
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2
  • YY1

Genomic Locations for FAM167A Gene

Latest Assembly
chr8:11,421,465-11,475,909
(GRCh38/hg38)
Size:
54,445 bases
Orientation:
Minus strand

Previous Assembly
chr8:11,278,985-11,324,262
(GRCh37/hg19 by Entrez Gene)
Size:
45,278 bases
Orientation:
Minus strand

chr8:11,278,972-11,332,224
(GRCh37/hg19 by Ensembl)
Size:
53,253 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):1,881,336-1,927,098 (+)

Genomic View for FAM167A Gene

Genes around FAM167A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM167A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM167A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM167A Gene

Proteins for FAM167A Gene

  • Protein details for FAM167A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KS9-F167A_HUMAN
    Recommended name:
    Protein FAM167A
    Protein Accession:
    Q96KS9
    Secondary Accessions:
    • A8K3T9
    • Q3SXY1
    • Q3SXY3
    • Q8N3M3
    • Q9NSR0

    Protein attributes for FAM167A Gene

    Size:
    214 amino acids
    Molecular mass:
    24182 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM167A Gene

Post-translational modifications for FAM167A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM167A Gene

Domains & Families for FAM167A Gene

Gene Families for FAM167A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM167A Gene

InterPro:

Suggested Antigen Peptide Sequences for FAM167A Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM167A (F167A_HUMAN)
  • FAM167A protein (Q86Y02_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96KS9

UniProtKB/Swiss-Prot:

F167A_HUMAN :
  • Belongs to the FAM167 (SEC) family.
Family:
  • Belongs to the FAM167 (SEC) family.
genes like me logo Genes that share domains with FAM167A: view

Function for FAM167A Gene

Phenotypes From GWAS Catalog for FAM167A Gene

Gene Ontology (GO) - Molecular Function for FAM167A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM167A: view
genes like me logo Genes that share phenotypes with FAM167A: view

miRNA for FAM167A Gene

miRTarBase miRNAs that target FAM167A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM167A

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM167A Gene

Localization for FAM167A 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 FAM167A gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM167A Gene

Pathways & Interactions for FAM167A Gene

PathCards logo

SuperPathways for FAM167A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM167A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM167A Gene

Drugs & Compounds for FAM167A Gene

No Compound Related Data Available

Transcripts for FAM167A Gene

mRNA/cDNA for FAM167A Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 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 FAM167A

Alternative Splicing Database (ASD) splice patterns (SP) for FAM167A Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7
SP1: - - -
SP2: -
SP3: - - -
SP4:

Relevant External Links for FAM167A Gene

GeneLoc Exon Structure for
FAM167A

Expression for FAM167A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM167A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM167A Gene

This gene is overexpressed in Thyroid (x4.6) and Pituitary (x4.1).

Protein differential expression in normal tissues from HIPED for FAM167A Gene

This gene is overexpressed in Heart (37.8) and Rectum (27.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM167A Gene



Protein tissue co-expression partners for FAM167A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM167A

SOURCE GeneReport for Unigene cluster for FAM167A Gene:

Hs.124299

mRNA Expression by UniProt/SwissProt for FAM167A Gene:

Q96KS9-F167A_HUMAN
Tissue specificity: Expressed in skin, including primary keratinocytes, spleen, kidney, leukocytes, testis, lung, small intestine and prostate.

Evidence on tissue expression from TISSUES for FAM167A Gene

  • Nervous system(2.4)
  • Lymph node(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with FAM167A: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM167A Gene

Orthologs for FAM167A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM167A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM167A 29 30
  • 99.07 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM167A 29 30
  • 84.62 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam167a 29 16 30
  • 83.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM167A 29 30
  • 83.01 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam167a 29
  • 82.71 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM167A 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM167A 29 30
  • 72.3 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM167A 30
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam167a 29
  • 67.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii fam167ab 29 30
  • 63.48 (n)
OneToOne
Dr.15778 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10625 30
  • 38 (a)
ManyToMany
-- 30
  • 23 (a)
ManyToMany
Species where no ortholog for FAM167A 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for FAM167A Gene

ENSEMBL:
Gene Tree for FAM167A (if available)
TreeFam:
Gene Tree for FAM167A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM167A: view image
Alliance of Genome Resources:
Additional Orthologs for FAM167A

Paralogs for FAM167A Gene

Paralogs for FAM167A Gene

(1) SIMAP similar genes for FAM167A Gene using alignment to 4 proteins:

  • F167A_HUMAN
  • E9PIY0_HUMAN
  • L8ECM2_HUMAN
  • Q86Y02_HUMAN
genes like me logo Genes that share paralogs with FAM167A: view

Variants for FAM167A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM167A Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs886037620 Pathogenic: Maturity-onset diabetes of the young, type 11 11,474,238(-) G/A
NC_000008.9:g.11369157G>A
rs3021512 -- p.Thr107Ser
rs3021513 -- p.His56Gln

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FAM167A Gene

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

Structural Variations from Database of Genomic Variants (DGV) for FAM167A Gene

Variant ID Type Subtype PubMed ID
esv1058919 CNV insertion 17803354
esv22493 CNV loss 19812545
esv2762725 CNV gain 21179565
esv3302913 CNV tandem duplication 20981092
esv34097 CNV loss 18971310
esv3572512 CNV loss 25503493
esv3628 CNV loss 18987735
nsv1030756 CNV gain 25217958
nsv1075110 CNV deletion 25765185
nsv465465 CNV loss 19166990
nsv470183 CNV loss 18288195
nsv475649 CNV novel sequence insertion 20440878
nsv509252 CNV insertion 20534489
nsv522860 CNV loss 19592680
nsv610275 CNV loss 21841781
nsv824538 CNV loss 20364138
nsv951100 CNV deletion 24416366

Variation tolerance for FAM167A Gene

Residual Variation Intolerance Score: 79.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.65; 45.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM167A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM167A
Leiden Open Variation Database (LOVD)
FAM167A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM167A Gene

Disorders for FAM167A Gene

MalaCards: The human disease database

(5) MalaCards diseases for FAM167A Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM167A

Human Genome Epidemiology Navigator
(HuGE)
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 FAM167A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM167A Gene

Publications for FAM167A Gene

  1. The rheumatic disease-associated FAM167A-BLK locus encodes DIORA-1, a novel disordered protein expressed highly in bronchial epithelium and alveolar macrophages. (PMID: 29663334) Mentlein L … Wahren-Herlenius M (Clinical and experimental immunology 2018) 2 3
  2. A genome-wide association study identifies three new risk loci for Kawasaki disease. (PMID: 22446962) Onouchi Y … US Kawasaki Disease Genetics Consortium (Nature genetics 2012) 3 40
  3. Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population. (PMID: 19740902) Ito I … Tsuchiya N (Annals of the rheumatic diseases 2010) 3 40
  4. 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 40
  5. Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus. (PMID: 20848568) Sanchez E … Alarcón-Riquelme ME (Arthritis and rheumatism 2010) 3 40

Products for FAM167A Gene

Sources for FAM167A Gene