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Aliases for FAM111B Gene

Aliases for FAM111B Gene

  • Family With Sequence Similarity 111 Member B 2 3 5
  • Cancer-Associated Nucleoprotein 3 4
  • CANP 3 4
  • Family With Sequence Similarity 111, Member B 2
  • Protein FAM111B 3
  • POIKTMP 3

External Ids for FAM111B Gene

Previous GeneCards Identifiers for FAM111B Gene

  • GC11P058632
  • GC11P058874
  • GC11P055220

Summaries for FAM111B Gene

Entrez Gene Summary for FAM111B Gene

  • This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014]

GeneCards Summary for FAM111B Gene

FAM111B (Family With Sequence Similarity 111 Member B) is a Protein Coding gene. Diseases associated with FAM111B include Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis and Pulmonary Fibrosis. An important paralog of this gene is FAM111A.

Additional gene information for FAM111B Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM111B Gene

Genomics for FAM111B Gene

GeneHancer (GH) Regulatory Elements for FAM111B Gene

Promoters and enhancers for FAM111B 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
GH11I059106 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.7 678 3.4 PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 E2F8 ATF7 KLF7 ZNF548 FAM111B ENSG00000269570 ENSG00000255008 LOC101927226 ZFP91 PATL1 STX3 ENSG00000255299 FAM111A FABP5P7
GH11I059135 Enhancer 1.1 Ensembl ENCODE 0.3 +29.4 29359 2.1 RB1 ARID4B SIN3A DMAP1 IRF4 ZNF48 RAD21 ZNF143 BCLAF1 RUNX3 FAM111A ENSG00000255381 FAM111A-DT FAM111B GC11M058947
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM111B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM111B gene promoter:

Genomic Locations for FAM111B Gene

Genomic Locations for FAM111B Gene
chr11:59,107,185-59,127,415
(GRCh38/hg38)
Size:
20,231 bases
Orientation:
Plus strand
chr11:58,874,658-58,894,888
(GRCh37/hg19)

Genomic View for FAM111B Gene

Genes around FAM111B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM111B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM111B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM111B Gene

Proteins for FAM111B Gene

  • Protein details for FAM111B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6SJ93-F111B_HUMAN
    Recommended name:
    Protein FAM111B
    Protein Accession:
    Q6SJ93
    Secondary Accessions:
    • B4E2G2
    • Q6P661

    Protein attributes for FAM111B Gene

    Size:
    734 amino acids
    Molecular mass:
    84674 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH62456.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM111B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM111B Gene

Post-translational modifications for FAM111B Gene

  • Ubiquitination at Lys62, posLast=102102, Lys382, and Lys429

Other Protein References for FAM111B Gene

No data available for DME Specific Peptides for FAM111B Gene

Domains & Families for FAM111B Gene

Gene Families for FAM111B Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for FAM111B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM111B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6SJ93

UniProtKB/Swiss-Prot:

F111B_HUMAN :
  • Belongs to the FAM111 family.
Family:
  • Belongs to the FAM111 family.
genes like me logo Genes that share domains with FAM111B: view

Function for FAM111B Gene

Gene Ontology (GO) - Molecular Function for FAM111B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FAM111B: view
genes like me logo Genes that share phenotypes with FAM111B: view

Human Phenotype Ontology for FAM111B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for FAM111B Gene

miRTarBase miRNAs that target FAM111B

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM111B Gene

Localization for FAM111B 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 FAM111B gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 2
mitochondrion 1

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM111B Gene

Pathways & Interactions for FAM111B Gene

SuperPathways for FAM111B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM111B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM111B Gene

Drugs & Compounds for FAM111B Gene

No Compound Related Data Available

Transcripts for FAM111B Gene

Unigene Clusters for FAM111B Gene

Family with sequence similarity 111, member B:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM111B Gene

No ASD Table

Relevant External Links for FAM111B Gene

GeneLoc Exon Structure for
FAM111B
ECgene alternative splicing isoforms for
FAM111B

Expression for FAM111B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM111B Gene

mRNA differential expression in normal tissues according to GTEx for FAM111B Gene

This gene is overexpressed in Esophagus - Mucosa (x4.0).

Protein differential expression in normal tissues from HIPED for FAM111B Gene

This gene is overexpressed in Serum (41.0) and Lung (28.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM111B Gene



Protein tissue co-expression partners for FAM111B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM111B Gene:

FAM111B

SOURCE GeneReport for Unigene cluster for FAM111B Gene:

Hs.186579

mRNA Expression by UniProt/SwissProt for FAM111B Gene:

Q6SJ93-F111B_HUMAN
Tissue specificity: Widely expressed.

Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM111B Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Regions:
General:
  • hair
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with FAM111B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Evidence on tissue expression from TISSUES for FAM111B Gene

Orthologs for FAM111B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM111B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM111B 33 34
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia FAM111B 33 34
  • 78.44 (n)
dog
(Canis familiaris)
Mammalia FAM111B 33 34
  • 77.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 37 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 10 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 34 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CR450726.1 34
  • 23 (a)
ManyToMany
FP102192.1 34
  • 21 (a)
ManyToMany
Species where no ortholog for FAM111B 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)
  • 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)
  • 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)

Evolution for FAM111B Gene

ENSEMBL:
Gene Tree for FAM111B (if available)
TreeFam:
Gene Tree for FAM111B (if available)

Paralogs for FAM111B Gene

Paralogs for FAM111B Gene

(1) SIMAP similar genes for FAM111B Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for FAM111B Gene

genes like me logo Genes that share paralogs with FAM111B: view

Variants for FAM111B Gene

Sequence variations from dbSNP and Humsavar for FAM111B Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs551644836 pathogenic, Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 59,125,386(+) A/C/G coding_sequence_variant, missense_variant
rs587777236 pathogenic, Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704] 59,125,958(+) T/G coding_sequence_variant, missense_variant
rs587777237 pathogenic, Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704] 59,125,976(+) A/G coding_sequence_variant, missense_variant
rs587777238 pathogenic, Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704] 59,125,980(+) G/A coding_sequence_variant, missense_variant
rs886039851 pathogenic, Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis 59,125,358(+) AAGA/A coding_sequence_variant, inframe_deletion

Structural Variations from Database of Genomic Variants (DGV) for FAM111B Gene

Variant ID Type Subtype PubMed ID
nsv952455 CNV duplication 24416366
nsv555147 CNV loss 21841781
nsv471671 CNV gain 15918152
nsv469559 CNV gain 16826518
nsv468578 CNV loss 19166990
nsv428258 CNV loss 18775914
nsv331 CNV insertion 18451855
nsv1050013 CNV gain 25217958
nsv1043956 CNV gain 25217958
esv2759830 CNV gain 17122850
esv2744562 CNV deletion 23290073
dgv14n68 CNV gain 17160897
dgv139e201 CNV deletion 23290073

Variation tolerance for FAM111B Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.39; 54.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM111B Gene

Human Gene Mutation Database (HGMD)
FAM111B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM111B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM111B Gene

Disorders for FAM111B Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM111B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

F111B_HUMAN
  • Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]: An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. {ECO:0000269 PubMed:24268661}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FAM111B

genes like me logo Genes that share disorders with FAM111B: view

No data available for Genatlas for FAM111B Gene

Publications for FAM111B Gene

  1. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. (PMID: 24268661) Mercier S … Mayosi BM (American journal of human genetics 2013) 2 3 4 58
  2. N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. (PMID: 22814378) Van Damme P … Aldabe R (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 58
  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 58
  4. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 58
  5. FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction. (PMID: 26495788) Seo A … Shimamura A (Pancreas 2016) 3 58

Products for FAM111B Gene

Sources for FAM111B Gene

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