Aliases for FAM221B Gene

Aliases for FAM221B Gene

  • Family With Sequence Similarity 221 Member B 2 3 5
  • Protein FAM221B 3 4
  • C9orf128 3 4
  • Family With Sequence Similarity 221, Member B 2
  • Chromosome 9 Open Reading Frame 128 2
  • Uncharacterized Protein C9orf128 3

External Ids for FAM221B Gene

Previous HGNC Symbols for FAM221B Gene

  • C9orf128

Summaries for FAM221B Gene

GeneCards Summary for FAM221B Gene

FAM221B (Family With Sequence Similarity 221 Member B) is a Protein Coding gene. Diseases associated with FAM221B include Cartilage-Hair Hypoplasia. An important paralog of this gene is FAM221A.

Additional gene information for FAM221B 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 FAM221B Gene

Genomics for FAM221B Gene

GeneHancer (GH) Regulatory Elements for FAM221B Gene

Promoters and enhancers for FAM221B 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
GH09J035828 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +4.2 4204 2.4 ZBTB40 SP1 PHF8 POLR2A SAP30 REST KLF4 RFX1 U2AF2 NFYB TMEM8B ENSG00000285645 FAM221B TPM2 L13304-037
GH09J035831 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 -0.4 -380 5 ZNF217 CTCF SP1 ZIC2 ZBTB25 TOE1 TGIF2 TRIM22 TBX3 RAD51 FAM221B TMEM8B TPM2 lnc-TMEM8B-1 L13304-037
GH09J035679 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.8 +147.7 147688 12.8 MYC TCF12 POLR2G PHF8 JUND FOS ZIC2 POLR2A ZBTB26 SAP30 TPM2 GBA2 TMEM8B TLN1 NPR2 CCDC107 SIT1 CREB3 RGP1 ENSG00000228843
GH09J036213 Enhancer 0.5 FANTOM5 dbSUPER 41.7 -379.6 -379623 0.2 RBM22 GLIS1 CCIN FAM221B CLTA GNE GLIPR2 SPAG8 RNF38 piR-58931 piR-43105-660
GH09J035904 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.6 -75.0 -75041 8.7 ZNF217 CTCF TCF12 NCOR1 JUND FOS ZNF10 ZIC2 REST POLR2A SPAAR NONHSAG052133.2 HRCT1 TMEM8B OR13J1 FAM221B NDUFA5P4 ENSG00000227388 NPR2 OR2S1P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM221B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM221B

Genomic Locations for FAM221B Gene

Genomic Locations for FAM221B Gene
chr9:35,816,391-35,833,805
(GRCh38/hg38)
Size:
17,415 bases
Orientation:
Minus strand
chr9:35,816,388-35,828,744
(GRCh37/hg19)
Size:
12,357 bases
Orientation:
Minus strand

Genomic View for FAM221B Gene

Genes around FAM221B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM221B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM221B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM221B Gene

Proteins for FAM221B Gene

  • Protein details for FAM221B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6H8Z2-F221B_HUMAN
    Recommended name:
    Protein FAM221B
    Protein Accession:
    A6H8Z2
    Secondary Accessions:
    • Q5TCW2

    Protein attributes for FAM221B Gene

    Size:
    402 amino acids
    Molecular mass:
    45394 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM221B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM221B Gene

Post-translational modifications for FAM221B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM221B Gene

No data available for DME Specific Peptides for FAM221B Gene

Domains & Families for FAM221B Gene

Gene Families for FAM221B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM221B Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

A6H8Z2

UniProtKB/Swiss-Prot:

F221B_HUMAN :
  • Belongs to the FAM221 family.
Family:
  • Belongs to the FAM221 family.
genes like me logo Genes that share domains with FAM221B: view

No data available for Suggested Antigen Peptide Sequences for FAM221B Gene

Function for FAM221B Gene

Phenotypes From GWAS Catalog for FAM221B Gene

genes like me logo Genes that share phenotypes with FAM221B: view

Animal Model Products

CRISPR Products

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 FAM221B Gene

Localization for FAM221B 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 FAM221B gene
Compartment Confidence
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FAM221B Gene

Pathways & Interactions for FAM221B Gene

PathCards logo

SuperPathways for FAM221B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM221B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FAM221B Gene

Drugs & Compounds for FAM221B Gene

No Compound Related Data Available

Transcripts for FAM221B Gene

mRNA/cDNA for FAM221B Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM221B Gene

No ASD Table

Relevant External Links for FAM221B Gene

GeneLoc Exon Structure for
FAM221B

Expression for FAM221B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM221B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM221B Gene

This gene is overexpressed in Testis (x38.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM221B

SOURCE GeneReport for Unigene cluster for FAM221B Gene:

Hs.128075
genes like me logo Genes that share expression patterns with FAM221B: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM221B Gene

Orthologs for FAM221B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM221B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM221B 30
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia FAM221B 31 30
  • 82.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM221B 31 30
  • 79.65 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam221b 17 31 30
  • 72.48 (n)
rat
(Rattus norvegicus)
Mammalia Fam221b 30
  • 69.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FAM221B 31
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM221B 31
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM221B 31
  • 66 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Cin.1299 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1299 30
Species where no ortholog for FAM221B 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)
  • 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 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 FAM221B Gene

ENSEMBL:
Gene Tree for FAM221B (if available)
TreeFam:
Gene Tree for FAM221B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM221B: view image

Paralogs for FAM221B Gene

Paralogs for FAM221B Gene

genes like me logo Genes that share paralogs with FAM221B: view

Variants for FAM221B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM221B Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs13294245 - p.Lys41Glu
rs13294256 - p.His34Arg

Additional dbSNP identifiers (rs#s) for FAM221B Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM221B Gene

Variant ID Type Subtype PubMed ID
nsv1125318 OTHER inversion 24896259
nsv831546 CNV loss 17160897

Variation tolerance for FAM221B Gene

Residual Variation Intolerance Score: 83.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.59; 82.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM221B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM221B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM221B Gene

Disorders for FAM221B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM221B Gene - From: GeneCards

Disorder Aliases PubMed IDs
cartilage-hair hypoplasia
  • chh
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM221B

genes like me logo Genes that share disorders with FAM221B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM221B Gene

Publications for FAM221B Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  2. The full-ORF clone resource of the German cDNA Consortium. (PMID: 17974005) Bechtel S … Schupp I (BMC genomics 2007) 4 54
  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) 4 54
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 54
  5. 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) 3 54

Products for FAM221B Gene

Sources for FAM221B Gene