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Aliases for FAM65B Gene

Aliases for FAM65B Gene

  • Family With Sequence Similarity 65 Member B 2 3 5
  • Family With Sequence Similarity 65, Member B 2 3
  • C6orf32 3 4
  • DIFF48 3 4
  • PL48 3 4
  • Myogenesis-Related And NCAM-Associated Protein Homolog (Chicken) 2
  • Myogenesis-Related And NCAM-Associated Protein Homolog 3
  • Chromosome 6 Open Reading Frame 32 2
  • KIAA0386 4
  • DFNB104 3
  • DIFF40 3
  • MYONAP 3

External Ids for FAM65B Gene

Previous HGNC Symbols for FAM65B Gene

  • C6orf32

Previous GeneCards Identifiers for FAM65B Gene

  • GC06M024913

Summaries for FAM65B Gene

Entrez Gene Summary for FAM65B Gene

  • The protein encoded by this gene stimulates the formation of a non-mitotic multinucleate syncytium from proliferative cytotrophoblasts during trophoblast differentiation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2013]

GeneCards Summary for FAM65B Gene

FAM65B (Family With Sequence Similarity 65 Member B) is a Protein Coding gene. Diseases associated with FAM65B include deafness, autosomal recessive 104 and autosomal recessive non-syndromic sensorineural deafness type dfnb. GO annotations related to this gene include binding. An important paralog of this gene is FAM65A.

UniProtKB/Swiss-Prot for FAM65B Gene

  • Required for hearing (PubMed:24958875). Involved in skeletal muscle development (PubMed:24687993).

  • Isoform 2: Plays a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia formation (PubMed:17150207).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM65B Gene

Genomics for FAM65B Gene

Regulatory Elements for FAM65B Gene

Promoters for FAM65B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAM65B on UCSC Golden Path with GeneCards custom track

Genomic Location for FAM65B Gene

Chromosome:
6
Start:
24,804,281 bp from pter
End:
25,042,288 bp from pter
Size:
238,008 bases
Orientation:
Minus strand

Genomic View for FAM65B Gene

Genes around FAM65B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM65B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM65B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM65B Gene

Proteins for FAM65B Gene

  • Protein details for FAM65B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4F9-FA65B_HUMAN
    Recommended name:
    Protein FAM65B
    Protein Accession:
    Q9Y4F9
    Secondary Accessions:
    • A6NHP2
    • Q13529
    • Q5VV37
    • Q5VV38
    • Q9BQ28

    Protein attributes for FAM65B Gene

    Size:
    1068 amino acids
    Molecular mass:
    118519 Da
    Quaternary structure:
    • Interacts with HDAC6 and DYSF during myogenic cell differentiation (PubMed:24687993). Interacts with MYOF (PubMed:24687993).
    Miscellaneous:
    • Cells lacking isoform 2 exhibit a severe reduction of myotube formation. In contrast, isoform 2 overexpression induces formation of filopodia.
    SequenceCaution:
    • Sequence=AAC51134.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAA20840.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for FAM65B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM65B Gene

Proteomics data for FAM65B Gene at MOPED

Post-translational modifications for FAM65B Gene

  • Asn-41 was reported to be N-glycosylated; however as this position is probably not extracellular, the in vivo relevance is not proven (PubMed:16335952). Acetylated during myogenic differentiation (PubMed:24687993).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FAM65B Gene

Domains & Families for FAM65B Gene

Protein Domains for FAM65B Gene

Suggested Antigen Peptide Sequences for FAM65B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4F9

UniProtKB/Swiss-Prot:

FA65B_HUMAN :
  • Belongs to the FAM65 family.
Family:
  • Belongs to the FAM65 family.
genes like me logo Genes that share domains with FAM65B: view

No data available for Gene Families for FAM65B Gene

Function for FAM65B Gene

Molecular function for FAM65B Gene

UniProtKB/Swiss-Prot Function:
Required for hearing (PubMed:24958875). Involved in skeletal muscle development (PubMed:24687993).
UniProtKB/Swiss-Prot Function:
Isoform 2: Plays a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia formation (PubMed:17150207).

Phenotypes for FAM65B Gene

genes like me logo Genes that share phenotypes with FAM65B: view

Human Phenotype Ontology for FAM65B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for FAM65B

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM65B Gene

Localization for FAM65B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM65B Gene

Isoform 1: Mitochondrion. Cell projection, stereocilium membrane. Cytoplasm.
Isoform 2: Cytoplasm, cytoskeleton. Cell projection, filopodium. Note=Detected in cellular filopodia. {ECO:0000269 PubMed:17150207}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM65B Gene COMPARTMENTS Subcellular localization image for FAM65B gene
Compartment Confidence
plasma membrane 5
cytoskeleton 3
mitochondrion 3
cytosol 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for FAM65B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 24687993
GO:0005739 mitochondrion IEA --
GO:0005856 cytoskeleton IEA --
GO:0016324 apical plasma membrane IEA --
GO:0030175 filopodium IEA --
genes like me logo Genes that share ontologies with FAM65B: view

Pathways & Interactions for FAM65B Gene

SuperPathways for FAM65B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM65B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IMP 24958875
GO:0048741 skeletal muscle fiber development IEA --
genes like me logo Genes that share ontologies with FAM65B: view

No data available for Pathways by source and SIGNOR curated interactions for FAM65B Gene

Drugs & Compounds for FAM65B Gene

No Compound Related Data Available

Transcripts for FAM65B Gene

Unigene Clusters for FAM65B Gene

Family with sequence similarity 65, member B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FAM65B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^
SP1: - - - -
SP2: - -
SP3: -
SP4: -
SP5:

ExUns: 23 ^ 24 ^ 25
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for FAM65B Gene

GeneLoc Exon Structure for
FAM65B
ECgene alternative splicing isoforms for
FAM65B

Expression for FAM65B Gene

mRNA expression in normal human tissues for FAM65B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM65B Gene

This gene is overexpressed in Whole Blood (x28.9).

Protein differential expression in normal tissues from HIPED for FAM65B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (36.8) and Blymphocyte (15.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for FAM65B Gene



SOURCE GeneReport for Unigene cluster for FAM65B Gene Hs.559459

mRNA Expression by UniProt/SwissProt for FAM65B Gene

Q9Y4F9-FA65B_HUMAN
Tissue specificity: Expressed in muscle. Isoform 1 is present in the brain. Isoform 2 is expressed during differentiation of fetal primary myoblasts. Also shows marked expression during cytotrophoblast differentiation.
genes like me logo Genes that share expression patterns with FAM65B: view

Protein tissue co-expression partners for FAM65B Gene

Primer Products

In Situ Assay Products

Orthologs for FAM65B Gene

This gene was present in the common ancestor of animals.

Orthologs for FAM65B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM65B 35
  • 99.53 (n)
  • 99.53 (a)
FAM65B 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia FAM65B 36
  • 88 (a)
OneToOne
FAM65B 35
  • 87.31 (n)
  • 87.34 (a)
dog
(Canis familiaris)
Mammalia FAM65B 35
  • 87.68 (n)
  • 88.03 (a)
FAM65B 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam65b 16
Fam65b 35
  • 84.92 (n)
  • 89.14 (a)
Fam65b 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FAM65B 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM65B 36
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fam65b 35
  • 84.65 (n)
  • 88.38 (a)
chicken
(Gallus gallus)
Aves FAM65B 35
  • 74.33 (n)
  • 78.39 (a)
FAM65B 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM65B 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam65b 35
  • 67.61 (n)
  • 66.45 (a)
zebrafish
(Danio rerio)
Actinopterygii fam65b 36
  • 54 (a)
OneToOne
fam65b 35
  • 59.96 (n)
  • 57.16 (a)
worm
(Caenorhabditis elegans)
Secernentea C27H2.2 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToMany
Species with no ortholog for FAM65B:
  • 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)
  • 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)
  • wheat (Triticum aestivum)

Evolution for FAM65B Gene

ENSEMBL:
Gene Tree for FAM65B (if available)
TreeFam:
Gene Tree for FAM65B (if available)

Paralogs for FAM65B Gene

Paralogs for FAM65B Gene

(2) SIMAP similar genes for FAM65B Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FAM65B: view

Variants for FAM65B Gene

Sequence variations from dbSNP and Humsavar for FAM65B Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs11967003 - 24,865,431(+) AATAA(C/G)CTTCA reference, missense
rs35331811 - 24,848,144(+) CTCCA(C/T)GTCAA reference, missense
rs34016544 - 24,843,512(+) CTCCT(C/T)GGCTG reference, missense
rs34298086 - 24,843,427(+) AGTTG(A/C/G)AAGGG reference, missense
rs35514577 - 24,843,299(+) TGGCT(C/T)TTGGC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FAM65B Gene

Variant ID Type Subtype PubMed ID
nsv830609 CNV Gain 17160897
nsv5227 CNV Loss 18451855
nsv508396 CNV Loss 20534489
esv2592028 CNV Deletion 19546169
esv998494 CNV Deletion 20482838
nsv511858 CNV Loss 21212237
nsv435839 CNV Deletion 17901297
esv5139 CNV Deletion 18987735
esv2731716 CNV Deletion 23290073
nsv499497 CNV Loss 21111241
esv1071217 CNV Deletion 17803354
esv6116 CNV Loss 19470904
nsv819104 CNV Gain 19587683
esv2556930 CNV Deletion 19546169
esv2171182 CNV Deletion 18987734
esv2731717 CNV Deletion 23290073
esv2667409 CNV Deletion 23128226

Variation tolerance for FAM65B Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.27; 88.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAM65B Gene

HapMap Linkage Disequilibrium report
FAM65B
Human Gene Mutation Database (HGMD)
FAM65B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM65B Gene

Disorders for FAM65B Gene

MalaCards: The human disease database

(3) MalaCards diseases for FAM65B Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 104
  • deafness, autosomal recessive, 104
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
reading disorder
  • specific reading disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FA65B_HUMAN
  • Deafness, autosomal recessive, 104 (DFNB104) [MIM:616515]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:24958875}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for FAM65B

Genetic Association Database (GAD)
FAM65B
Human Genome Epidemiology (HuGE) Navigator
FAM65B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM65B
genes like me logo Genes that share disorders with FAM65B: view

No data available for Genatlas for FAM65B Gene

Publications for FAM65B Gene

  1. C6ORF32 is upregulated during muscle cell differentiation and induces the formation of cellular filopodia. (PMID: 17150207) Yoon S. … Gussoni E. (Dev. Biol. 2007) 2 3 4 67
  2. Identification and characterization of a novel neural cell adhesion molecule (NCAM)-associated protein from quail myoblasts: relationship to myotube formation and induction of neurite-like protrusions. (PMID: 17825087) Hirayama E. … Kim J. (Differentiation 2008) 2 3
  3. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T. … Ohara O. (DNA Res. 1997) 2 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. (PMID: 24958875) Diaz-Horta O. … Tekin M. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3

Products for FAM65B Gene

Sources for FAM65B Gene

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