Aliases for FAM78B Gene

Aliases for FAM78B Gene

  • Family With Sequence Similarity 78 Member B 2 3 5
  • Protein FAM78B 3 4
  • Family With Sequence Similarity 78, Member B 2
  • FAM78B 5

External Ids for FAM78B Gene

Previous GeneCards Identifiers for FAM78B Gene

  • GC01M162772
  • GC01M164293
  • GC01M164305
  • GC01M166027
  • GC01M137286

Summaries for FAM78B Gene

GeneCards Summary for FAM78B Gene

FAM78B (Family With Sequence Similarity 78 Member B) is a Protein Coding gene. Diseases associated with FAM78B include Agnathia-Otocephaly Complex. An important paralog of this gene is FAM78A.

Additional gene information for FAM78B Gene

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 FAM78B Gene

Genomics for FAM78B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM78B 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
GH01J166166 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.7 700 3 CTCF PRDM10 REST ZNF692 LARP7 ZNF143 MTA2 ZNF740 TRIM22 EZH2 ENSG00000229588 ENSG00000230898 FAM78B LOC112268276 TMCO1
GH01J165924 Enhancer 0.6 Ensembl 10.3 +241.8 241801 0.4 CTCF ZNF143 REST RAD21 TRIM22 TCF12 SMC3 ZKSCAN1 ZBTB5 TFAP4 ENSG00000236364 UCK2 ENSG00000230898 FAM78B FAM78B-AS1 LOC100420658 lnc-TMCO1-5 TMCO1
GH01J166089 Enhancer 0.5 Ensembl 10.9 +76.8 76800 0.8 ZNF143 RAD21 CTCF ELF1 MYNN SMARCA5 HLF ZNF687 piR-40916 ENSG00000230898 FAM78B MIR921 RF00017-381 FAM78B-AS1 TMCO1
GH01J166086 Enhancer 0.5 Ensembl 10.9 +80.5 80500 0.6 DPF2 RELB IKZF1 NR2F1 ESRRA ETV6 ENSG00000230898 FAM78B MIR921 piR-40916 RF00017-381 FAM78B-AS1 TMCO1
GH01J166171 Enhancer 0.7 Ensembl 7.5 -3.4 -3400 0.8 STAT3 RELA IKZF2 RCOR1 TRIM22 PKNOX1 RELB RUNX3 POLR2A NBN FAM78B ENSG00000229588 LOC112268276 piR-47086-016 POGK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM78B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM78B

Top Transcription factor binding sites by QIAGEN in the FAM78B gene promoter:
  • CUTL1
  • Elk-1
  • GATA-3
  • N-Myc
  • Pax-2
  • Pax-4a
  • Pax-5
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for FAM78B Gene

Genomic Locations for FAM78B Gene
chr1:166,055,918-166,167,001
(GRCh38/hg38)
Size:
111,084 bases
Orientation:
Minus strand
chr1:166,026,674-166,136,206
(GRCh37/hg19)
Size:
109,533 bases
Orientation:
Minus strand

Genomic View for FAM78B Gene

Genes around FAM78B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM78B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM78B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM78B Gene

Proteins for FAM78B Gene

  • Protein details for FAM78B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VT40-FA78B_HUMAN
    Recommended name:
    Protein FAM78B
    Protein Accession:
    Q5VT40
    Secondary Accessions:
    • B7Z693

    Protein attributes for FAM78B Gene

    Size:
    261 amino acids
    Molecular mass:
    29835 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FAM78B Gene

Post-translational modifications for FAM78B Gene

No Post-translational modifications

Other Protein References for FAM78B Gene

No data available for DME Specific Peptides for FAM78B Gene

Domains & Families for FAM78B Gene

Gene Families for FAM78B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM78B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM78B Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM78B (FA78B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5VT40

UniProtKB/Swiss-Prot:

FA78B_HUMAN :
  • Belongs to the FAM78 family.
Family:
  • Belongs to the FAM78 family.
genes like me logo Genes that share domains with FAM78B: view

Function for FAM78B Gene

Phenotypes From GWAS Catalog for FAM78B Gene

genes like me logo Genes that share phenotypes with FAM78B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM78B

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 FAM78B Gene

Localization for FAM78B 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 FAM78B gene
Compartment Confidence
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM78B Gene

Pathways & Interactions for FAM78B Gene

PathCards logo

SuperPathways for FAM78B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM78B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM78B Gene

Drugs & Compounds for FAM78B Gene

No Compound Related Data Available

Transcripts for FAM78B Gene

mRNA/cDNA for FAM78B Gene

2 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 FAM78B

Alternative Splicing Database (ASD) splice patterns (SP) for FAM78B Gene

No ASD Table

Relevant External Links for FAM78B Gene

GeneLoc Exon Structure for
FAM78B

Expression for FAM78B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM78B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM78B

SOURCE GeneReport for Unigene cluster for FAM78B Gene:

Hs.133029

Evidence on tissue expression from TISSUES for FAM78B Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with FAM78B: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM78B Gene

Orthologs for FAM78B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM78B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM78B 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM78B 30 31
  • 97.32 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FAM78B 31
  • 97 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM78B 30 31
  • 96.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam78b 30 17 31
  • 96.04 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM78B 31
  • 78 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FAM78B 30 31
  • 83.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM78B 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam78b 30
  • 82.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii FAM78B (1 of 2) 31
  • 82 (a)
OneToMany
fam78bb 30
  • 75.35 (n)
FP102157.1 31
  • 74 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToMany
Species where no ortholog for FAM78B 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • 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 FAM78B Gene

ENSEMBL:
Gene Tree for FAM78B (if available)
TreeFam:
Gene Tree for FAM78B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM78B: view image

Paralogs for FAM78B Gene

Paralogs for FAM78B Gene

(1) SIMAP similar genes for FAM78B Gene using alignment to 4 proteins:

  • FA78B_HUMAN
  • F1T0K0_HUMAN
  • H7C075_HUMAN
  • H7C3M6_HUMAN
genes like me logo Genes that share paralogs with FAM78B: view

Variants for FAM78B Gene

Additional dbSNP identifiers (rs#s) for FAM78B Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM78B Gene

Variant ID Type Subtype PubMed ID
esv2719162 CNV deletion 23290073
nsv1112220 CNV deletion 24896259
nsv1127041 CNV deletion 24896259
nsv1136101 CNV deletion 24896259
nsv475739 CNV novel sequence insertion 20440878
nsv955475 CNV deletion 24416366

Variation tolerance for FAM78B Gene

Residual Variation Intolerance Score: 50.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM78B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM78B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM78B Gene

Disorders for FAM78B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM78B Gene - From: DISEASES

Disorder Aliases PubMed IDs
agnathia-otocephaly complex
  • agotc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM78B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FAM78B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM78B Gene

Publications for FAM78B Gene

  1. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 41
  2. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PMID: 19064610) Cheung CL … Kung AW (Human molecular genetics 2009) 3 41
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for FAM78B Gene

Sources for FAM78B Gene