This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009] See more...

Aliases for FAM186B Gene

Aliases for FAM186B Gene

  • Family With Sequence Similarity 186 Member B 2 3 5
  • Protein FAM186B 3 4
  • C12orf25 3 4
  • Family With Sequence Similarity 186, Member B 2
  • Chromosome 12 Open Reading Frame 25 2
  • DKFZP434J0113 2
  • FAM186B 5

External Ids for FAM186B Gene

Previous HGNC Symbols for FAM186B Gene

  • C12orf25

Previous GeneCards Identifiers for FAM186B Gene

  • GC12M048270
  • GC12M049981
  • GC12M047007

Summaries for FAM186B Gene

Entrez Gene Summary for FAM186B Gene

  • This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for FAM186B Gene

FAM186B (Family With Sequence Similarity 186 Member B) is a Protein Coding gene. Diseases associated with FAM186B include Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 and Nephronophthisis.

Gene Wiki entry for FAM186B Gene

Additional gene information for FAM186B Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM186B Gene

Genomics for FAM186B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM186B 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
GH12J049621 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 -17.8 -17849 3.9 SP1 CTCF PRDM10 REST KDM1A POLR2A BACH1 PRDM1 RELA ZIC2 FAM186B PRPF40B FMNL3 RNU6-834P TMBIM6 MCRS1 C1QL4 lnc-KCNH3-4 lnc-FAM186B-4
GH12J049605 Promoter 0.5 EPDnew 600.7 +0.1 71 0.1 ATF2 CREB1 FAM186B hsa-miR-5095-089 lnc-PRPF40B-1 MCRS1 PRPF40B
GH12J049604 Enhancer 0.4 Ensembl 600.7 +0.4 408 0.6 ATF2 NFIC CREB1 FAM186B hsa-miR-5095-089 lnc-PRPF40B-1 MCRS1 PRPF40B
GH12J049606 Enhancer 0.3 Ensembl 600.7 -1.3 -1292 0.8 ZSCAN4 FAM186B RF00017-1140 MCRS1 FMNL3 TMBIM6 SPATS2 lnc-PRPF40B-1 PRPF40B
GH12J049128 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 32.1 +474.5 474518 5.2 ZNF221 ARHGAP35 SP1 HNRNPL GATAD2A CTCF TEAD4 PRDM10 ZNF629 TFE3 ENSG00000200309 LOC105369760 TUBA1B lnc-LMBR1L-2 TUBA1C LMBR1L SMARCD1 KMT2D DDX23 ENSG00000271547
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM186B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM186B

Top Transcription factor binding sites by QIAGEN in the FAM186B gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Bach2
  • Egr-1
  • FOXJ2 (long isoform)
  • p300
  • RFX1
  • YY1

Genomic Locations for FAM186B Gene

Genomic Locations for FAM186B Gene
chr12:49,582,873-49,605,709
(GRCh38/hg38)
Size:
22,837 bases
Orientation:
Minus strand
chr12:49,976,658-49,999,433
(GRCh37/hg19)
Size:
22,776 bases
Orientation:
Minus strand

Genomic View for FAM186B Gene

Genes around FAM186B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM186B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM186B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM186B Gene

Proteins for FAM186B Gene

  • Protein details for FAM186B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYM0-F186B_HUMAN
    Recommended name:
    Protein FAM186B
    Protein Accession:
    Q8IYM0
    Secondary Accessions:
    • B4DZ15
    • Q8TCP7
    • Q9H0L3

    Protein attributes for FAM186B Gene

    Size:
    893 amino acids
    Molecular mass:
    103722 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM186B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM186B Gene

Post-translational modifications for FAM186B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM186B Gene

Domains & Families for FAM186B Gene

Gene Families for FAM186B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM186B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM186B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ57285 (B4DZ15_HUMAN)
  • Protein FAM186B (F186B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYM0

UniProtKB/Swiss-Prot:

F186B_HUMAN :
  • Belongs to the FAM186 family.
Family:
  • Belongs to the FAM186 family.
genes like me logo Genes that share domains with FAM186B: view

Function for FAM186B Gene

Phenotypes From GWAS Catalog for FAM186B Gene

genes like me logo Genes that share phenotypes with FAM186B: view

Animal Models for FAM186B Gene

MGI Knock Outs for FAM186B:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM186B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FAM186B Gene

Localization for FAM186B 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 FAM186B gene
Compartment Confidence
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for FAM186B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032991 protein-containing complex IDA --
genes like me logo Genes that share ontologies with FAM186B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for FAM186B Gene

Pathways & Interactions for FAM186B Gene

PathCards logo

SuperPathways for FAM186B Gene

No Data Available

Interacting Proteins for FAM186B Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000257894 Q8IYM0-F186B_HUMAN for FAM186B Gene via STRING IID

Gene Ontology (GO) - Biological Process for FAM186B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM186B Gene

Drugs & Compounds for FAM186B Gene

No Compound Related Data Available

Transcripts for FAM186B Gene

mRNA/cDNA for FAM186B Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM186B

Alternative Splicing Database (ASD) splice patterns (SP) for FAM186B Gene

No ASD Table

Relevant External Links for FAM186B Gene

GeneLoc Exon Structure for
FAM186B

Expression for FAM186B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM186B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for FAM186B Gene

This gene is overexpressed in Testis (x41.1).

Protein differential expression in normal tissues from HIPED for FAM186B Gene

This gene is overexpressed in Liver (36.2), Lung (11.5), and Gallbladder (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM186B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM186B

SOURCE GeneReport for Unigene cluster for FAM186B Gene:

Hs.524406

Evidence on tissue expression from TISSUES for FAM186B Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with FAM186B: 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 FAM186B Gene

Orthologs for FAM186B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM186B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM186B 30 31
  • 98.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM186B 30
  • 81.21 (n)
-- 31
  • 68 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia FAM186B 30 31
  • 80.56 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam186b 30
  • 74.59 (n)
Mouse
(Mus musculus)
Mammalia Fam186b 30 17 31
  • 72.97 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM186B 31
  • 27 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 20 (a)
OneToMany
Species where no ortholog for FAM186B 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)
  • Chicken (Gallus gallus)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for FAM186B Gene

ENSEMBL:
Gene Tree for FAM186B (if available)
TreeFam:
Gene Tree for FAM186B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM186B: view image

Paralogs for FAM186B Gene

(1) SIMAP similar genes for FAM186B Gene using alignment to 5 proteins:

  • F186B_HUMAN
  • B4DZ15_HUMAN
  • E9PMM1_HUMAN
  • F8VRJ5_HUMAN
  • H0YIB0_HUMAN
genes like me logo Genes that share paralogs with FAM186B: view

No data available for Paralogs for FAM186B Gene

Variants for FAM186B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM186B Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
713126 Benign: not provided 49,598,909(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
729639 Likely Benign: not provided 49,588,535(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
732247 Likely Benign: not provided 49,600,036(-) AC/A FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
734665 Benign: not provided 49,599,850(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
735167 Benign: not provided 49,600,758(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for FAM186B Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM186B Gene

Variant ID Type Subtype PubMed ID
nsv832406 CNV loss 17160897

Variation tolerance for FAM186B Gene

Residual Variation Intolerance Score: 88.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.07; 75.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM186B Gene

Human Gene Mutation Database (HGMD)
FAM186B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM186B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM186B Gene

Disorders for FAM186B Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM186B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1
  • eec1
nephronophthisis
  • medullary cystic disease
3mc syndrome
  • oculopalatoskeletal syndrome
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with FAM186B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM186B Gene

Publications for FAM186B Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3

Products for FAM186B Gene

  • Signalway Proteins for FAM186B

Sources for FAM186B Gene