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Aliases for FAM65B Gene

Aliases for FAM65B Gene

  • Family With Sequence Similarity 65, Member B 2 3
  • C6orf32 3 4 6
  • PL48 3 4 6
  • KIAA0386 4 6
  • DIFF48 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
  • Protein FAM65B 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 autosomal recessive non-syndromic sensorineural deafness type dfnb. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FAM65B Gene

Start:
24,797,373 bp from pter
End:
25,042,287 bp from pter
Size:
244,915 bases
Orientation:
Minus strand

Genomic View for FAM65B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 for FAM65B Gene

Protein Domains for FAM65B Gene

InterPro:
ProtoNet:

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 :
  • Q9Y4F9
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).

Gene Ontology (GO) - Molecular Function for FAM65B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding IPI 21988832
genes like me logo Genes that share ontologies with FAM65B: view

Phenotypes for FAM65B Gene

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

Animal Model Products

CRISPR Products

miRNA for FAM65B Gene

miRTarBase miRNAs that target FAM65B

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM65B

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FAM65B Gene COMPARTMENTS Subcellular localization image for FAM65B gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
cytosol 2
nucleus 2
peroxisome 1
plasma membrane 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:0030175 filopodium IEA --
GO:0042995 cell projection --
genes like me logo Genes that share ontologies with FAM65B: view

Pathways 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:0007517 muscle organ development IEA --
GO:0007605 sensory perception of sound IMP 24958875
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with FAM65B: view

No data available for Pathways by source for FAM65B Gene

Transcripts for FAM65B Gene

Unigene Clusters for FAM65B Gene

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

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FAM65B

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for FAM65B

Flow Cytometry Products

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 (28.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, 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 expressions with FAM65B: view

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 35
  • 87.31 (n)
  • 87.34 (a)
FAM65B 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FAM65B 35
  • 87.68 (n)
  • 88.03 (a)
FAM65B 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fam65b 35
  • 84.92 (n)
  • 89.14 (a)
Fam65b 16
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 35
  • 59.96 (n)
  • 57.16 (a)
fam65b 36
  • 54 (a)
OneToOne
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

Selected 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 MAF
rs3730 -- 24,805,820(+) ATTAT(C/T)AGACA utr-variant-3-prime
rs11285 -- 24,804,580(-) CTTCA(C/G)TTTAA utr-variant-3-prime
rs127485 -- 24,952,619(-) ctcat(C/T)agctc intron-variant
rs127486 -- 24,952,602(-) actac(A/C)tttta intron-variant
rs127489 -- 24,967,321(-) CCAAC(A/G)TGCTT intron-variant

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

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

MalaCards: The human disease database. (1) Diseases for FAM65B Gene including...

Search for FAM65B Gene in MalaCards »

UniProtKB/Swiss-Prot

FA65B_HUMAN
  • Note=FAM65B mutations may be a cause of non-syndromic deafness. A splice site mutation causing in-frame skipping of exon 3 has been found in a large consanguineous kindred with recessive non-syndromic, prelingual, profound hearing loss. The mutation perfectly cosegregates with the phenotype in the family. {ECO:0000269 PubMed:24958875}.

Relevant External Links for FAM65B

Genetic Association Database (GAD)
FAM65B
Human Genome Epidemiology (HuGE) Navigator
FAM65B
genes like me logo Genes that share disorders with FAM65B: view

Publications for FAM65B Gene

  1. 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
  2. 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
  3. 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
  4. 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 4
  5. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. (PMID: 24687993) Balasubramanian A. … Gussoni E. (FASEB J. 2014) 3 4

Products for FAM65B Gene

Sources for FAM65B Gene

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