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Aliases for FAM167A Gene

Aliases for FAM167A Gene

  • Family With Sequence Similarity 167 Member A 2 3 5
  • C8orf13 3 4
  • Family With Sequence Similarity 167, Member A 2
  • Chromosome 8 Open Reading Frame 13 2
  • Protein FAM167A 3
  • 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 Keratolytic Winter Erythema. An important paralog of this gene is FAM167B.

Additional gene information for FAM167A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM167A Gene

Genomics for FAM167A Gene

GeneHancer (GH) Regulatory Elements for FAM167A Gene

Promoters and enhancers for FAM167A 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
GH08J011464 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 667.4 +9.6 9608 3.9 HDGF PKNOX1 ATF1 ZNF493 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B IRF4 FAM167A PINX1 LOC101929290 ENSG00000253678 LINC00208 ENSG00000249316 LINC00529 DEFB135 RNA5SP252 ZNF705D
GH08J011455 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 674.9 +18.5 18478 3.1 HDGF PKNOX1 FOXA2 SMAD1 SIN3A ZNF2 IRF4 GLIS2 ZNF143 ATF7 FAM167A BLK ENSG00000255310 XKR6 MTMR9 PIR35143
GH08J011472 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 670.1 +0.5 483 5.1 PKNOX1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF335 ZNF121 ELK1 EGR1 FAM167A FAM66A FAM66D ENSG00000253678 LINC00208 ENSG00000249316 LINC00529 DEFB135 ZNF705D RNA5SP252
GH08J011490 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 25.2 -18.5 -18483 8.6 HDGF PKNOX1 ATF1 SMAD1 YBX1 IRF4 ZNF121 ZNF207 ZNF143 ATF7 BLK FAM167A LOC101929290 PINX1 LOC105379241 ENSG00000269918 DEFB136 ALG1L11P GC08M011555
GH08J011448 Enhancer 1.1 Ensembl ENCODE dbSUPER 38.1 +26.4 26387 1.8 BCOR KLF1 ZMYM3 ZFHX2 ZNF366 POLR2A ZNF600 EGR2 SP3 SP2 FAM167A BLK SLC35G5 ENSG00000255310 PIR35143
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for FAM167A Gene

Genomic Locations for FAM167A Gene
chr8:11,421,463-11,475,915
(GRCh38/hg38)
Size:
54,453 bases
Orientation:
Minus strand
chr8:11,278,972-11,332,224
(GRCh37/hg19)
Size:
53,253 bases
Orientation:
Minus strand

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

Antibody Products

  • Boster Bio Antibodies for FAM167A
  • Santa Cruz Biotechnology (SCBT) Antibodies for FAM167A

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:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM167A Gene

GenScript: Design optimal peptide antigens:

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

Animal Model Products

miRNA for FAM167A Gene

miRTarBase miRNAs that target FAM167A

Clone Products

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
endoplasmic reticulum 4
nucleus 2
cytosol 2
extracellular 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

SuperPathways for FAM167A Gene

No Data Available

Interacting Proteins for FAM167A Gene

Selected Interacting proteins: Q96KS9-F167A_HUMAN for FAM167A Gene via IID UniProtKB

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

Unigene Clusters for FAM167A Gene

Family with sequence similarity 167, member A:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
FAM167A

Expression for FAM167A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of FAM167A Gene:

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.
genes like me logo Genes that share expression patterns with FAM167A: view

No data available for Evidence on tissue expression from TISSUES and 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 34 33
  • 99.07 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM167A 34 33
  • 84.62 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam167a 16 34 33
  • 83.49 (n)
cow
(Bos Taurus)
Mammalia FAM167A 34 33
  • 83.01 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam167a 33
  • 82.71 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM167A 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM167A 34 33
  • 72.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM167A 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam167a 33
  • 67.31 (n)
zebrafish
(Danio rerio)
Actinopterygii fam167ab 34 33
  • 63.48 (n)
OneToOne
Dr.15778 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10625 34
  • 38 (a)
ManyToMany
-- 34
  • 23 (a)
ManyToMany
Species where no ortholog for FAM167A 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • 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

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 from dbSNP and Humsavar for FAM167A Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs886037620 pathogenic, Maturity-onset diabetes of the young, type 11 11,474,238(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000003922 -- 11,446,099(-) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000090828 -- 11,423,191(-) C/G 3_prime_UTR_variant
rs1000110956 -- 11,438,664(-) T/C intron_variant
rs1000170057 -- 11,430,047(-) G/C intron_variant

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

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

Disorders for FAM167A Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM167A Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM167A

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 FAM167A: view

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

Publications for FAM167A Gene

  1. 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 44 58
  2. 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 44 58
  3. Association of the FAM167A-BLK region with systemic sclerosis. (PMID: 20131239) Ito I … Tsuchiya N (Arthritis and rheumatism 2010) 3 44 58
  4. Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis. (PMID: 20156505) Torres O … Gonzalez-Gay MA (Human immunology 2010) 3 44 58
  5. 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 44 58

Products for FAM167A Gene

Sources for FAM167A Gene

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