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Aliases for FAM180B Gene

Aliases for FAM180B Gene

  • Family With Sequence Similarity 180 Member B 2 3 5
  • Family With Sequence Similarity 180, Member B 2
  • Hypothetical Gene Supported By BC065704 2

External Ids for FAM180B Gene

Previous GeneCards Identifiers for FAM180B Gene

  • GC11P047566
  • GC11P047309

Summaries for FAM180B Gene

GeneCards Summary for FAM180B Gene

FAM180B (Family With Sequence Similarity 180 Member B) is a Protein Coding gene. Diseases associated with FAM180B include Leprosy 3.

Additional gene information for FAM180B 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 FAM180B Gene

Genomics for FAM180B Gene

GeneHancer (GH) Regulatory Elements for FAM180B Gene

Promoters and enhancers for FAM180B 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
GH11I047585 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 550.8 +1.7 1734 5.5 SAP130 ZSCAN4 ARID4B KLF17 MAX NFXL1 ZNF48 ZNF335 POLR2A NR2F6 FAM180B C1QTNF4 FNBP4 PTPRJ MADD GC11M055376
GH11I047506 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11.7 -73.1 -73097 14.4 HDGF PKNOX1 ZFP64 ZNF213 FOS JUNB ZC3H11A REST SREBF1 SMARCA4 ENSG00000270072 NUP160 FNBP4 ENSG00000200090 ENSG00000270060 C1QTNF4 ZNF408 DDB2 AMBRA1 CELF1
GH11I047521 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.8 -62.5 -62462 4.8 HDGF PKNOX1 FEZF1 FOS ATF7 DEK JUNB GMEB1 SMARCA4 STAT3 CELF1 C1QTNF4 PTPMT1 NDUFS3 FAM180B RNU5E-10P ENSG00000231880 C11orf49 ENSG00000270072 RN7SL652P
GH11I047498 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.8 -87.2 -87193 1.4 FOXA2 TAF1 NFIB MAX RAD21 YY1 GATA3 POLR2A HNF4G PRDM10 PTPMT1 CELF1 NDUFS3 RAPSN ENSG00000231880 RNU5E-10P KBTBD4 FAM180B C1QTNF4 MTCH2
GH11I047606 Enhancer 0.7 Ensembl ENCODE 12.3 +21.0 21004 1.9 MEIS2 EGR1 HMBOX1 FOS ZIC2 NR2F2 FNBP4 FAM180B KBTBD4 NDUFS3 PTPMT1 CELF1 ENSG00000231880 RNU5E-10P MTCH2 AGBL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM180B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM180B gene promoter:

Genomic Locations for FAM180B Gene

Genomic Locations for FAM180B Gene
chr11:47,586,678-47,589,194
(GRCh38/hg38)
Size:
2,517 bases
Orientation:
Plus strand
chr11:47,608,198-47,610,746
(GRCh37/hg19)

Genomic View for FAM180B Gene

Genes around FAM180B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM180B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM180B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM180B Gene

Proteins for FAM180B Gene

  • Protein details for FAM180B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P0A1-F180B_HUMAN
    Recommended name:
    Protein FAM180B
    Protein Accession:
    Q6P0A1

    Protein attributes for FAM180B Gene

    Size:
    224 amino acids
    Molecular mass:
    25167 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM180B Gene

Post-translational modifications for FAM180B Gene

No Post-translational modifications

Other Protein References for FAM180B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM180B Gene

Domains & Families for FAM180B Gene

Gene Families for FAM180B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM180B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM180B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6P0A1

UniProtKB/Swiss-Prot:

F180B_HUMAN :
  • Belongs to the FAM180 family.
Family:
  • Belongs to the FAM180 family.
genes like me logo Genes that share domains with FAM180B: view

Function for FAM180B Gene

Phenotypes From GWAS Catalog for FAM180B Gene

Phenotypes for FAM180B Gene

genes like me logo Genes that share phenotypes with FAM180B: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM180B Gene

Localization for FAM180B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM180B Gene

Membrane; Single-pass membrane protein.

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 FAM180B gene
Compartment Confidence
plasma membrane 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for FAM180B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FAM180B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM180B Gene

Pathways & Interactions for FAM180B Gene

SuperPathways for FAM180B Gene

No Data Available

Interacting Proteins for FAM180B Gene

Gene Ontology (GO) - Biological Process for FAM180B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM180B Gene

Drugs & Compounds for FAM180B Gene

No Compound Related Data Available

Transcripts for FAM180B Gene

mRNA/cDNA for FAM180B Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM180B Gene

Family with sequence similarity 180, member B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM180B Gene

No ASD Table

Relevant External Links for FAM180B Gene

GeneLoc Exon Structure for
FAM180B
ECgene alternative splicing isoforms for
FAM180B

Expression for FAM180B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM180B Gene

mRNA differential expression in normal tissues according to GTEx for FAM180B Gene

This gene is overexpressed in Nerve - Tibial (x8.0), Skin - Sun Exposed (Lower leg) (x6.8), Skin - Not Sun Exposed (Suprapubic) (x5.6), and Adipose - Subcutaneous (x5.1).

Protein differential expression in normal tissues from HIPED for FAM180B Gene

This gene is overexpressed in Skin (63.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM180B Gene



Protein tissue co-expression partners for FAM180B Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM180B Gene:

FAM180B

SOURCE GeneReport for Unigene cluster for FAM180B Gene:

Hs.502529

Evidence on tissue expression from TISSUES for FAM180B Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with FAM180B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM180B Gene

Orthologs for FAM180B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM180B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM180B 33 34
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia FAM180B 33 34
  • 89.98 (n)
cow
(Bos Taurus)
Mammalia FAM180B 33
  • 89.25 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM180B 34
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM180B 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM180B 34
  • 28 (a)
OneToOne
Species where no ortholog for FAM180B 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FAM180B Gene

ENSEMBL:
Gene Tree for FAM180B (if available)
TreeFam:
Gene Tree for FAM180B (if available)

Paralogs for FAM180B Gene

No data available for Paralogs for FAM180B Gene

Variants for FAM180B Gene

Sequence variations from dbSNP and Humsavar for FAM180B Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000827208 -- 47,586,459(+) GCTACCAAACA/ upstream_transcript_variant
rs1001087502 -- 47,586,258(+) G/T upstream_transcript_variant
rs1001120002 -- 47,589,324(+) C/T downstream_transcript_variant
rs1001429609 -- 47,584,979(+) C/G upstream_transcript_variant
rs1001467928 -- 47,589,588(+) G/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM180B Gene

Variant ID Type Subtype PubMed ID
esv3579504 CNV loss 25503493
nsv509405 CNV insertion 20534489
nsv825872 CNV gain 20364138
nsv825873 CNV gain 20364138
nsv832142 CNV loss 17160897

Variation tolerance for FAM180B Gene

Gene Damage Index Score: 1.12; 22.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM180B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM180B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM180B Gene

Disorders for FAM180B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM180B Gene - From: DISEASES

Disorder Aliases PubMed IDs
leprosy 3
  • leprosy, susceptibility to, 3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM180B

genes like me logo Genes that share disorders with FAM180B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM180B Gene

Publications for FAM180B Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  2. 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) 4 58

Products for FAM180B Gene

Sources for FAM180B Gene

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