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Aliases for FAM65B Gene

Aliases for FAM65B Gene

  • Family With Sequence Similarity 65 Member B 2 3 5
  • 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
  • Family With Sequence Similarity 65, Member B 2
  • Chromosome 6 Open Reading Frame 32 2
  • Protein FAM65B 3
  • 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

  • This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]

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 ENSG00000283467.

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

Enhancers for FAM65B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F024990 0.8 Ensembl ENCODE 16.4 +50.9 50876 2.4 CTCF MXI1 JUN MAX EBF1 ZIC2 ZNF2 RAD21 RFX5 EED FAM65B ENSG00000229313 PPIAP29 ASS1P1
GH06F024996 1.2 FANTOM5 Ensembl ENCODE 16.1 +44.1 44088 4.4 PKNOX1 JUNB CEBPB CEBPG ZNF664 ZNF341 PBX2 ZNF530 SPI1 SP7 FAM65B ENSG00000229313 GPLD1 TDP2 PPIAP29 ASS1P1
GH06F025070 0.8 Ensembl ENCODE 12.2 -28.7 -28742 1.0 ELF3 CTCF ARID4B RAD21 TEAD3 SLC30A9 ZNF143 ZNF207 SMC3 ETV6 CMAHP ENSG00000229313 FAM65B ENSG00000230372 NUP50P2
GH06F025002 0.4 Ensembl 11.7 +39.6 39588 0.6 PKNOX1 SCRT2 ENSG00000229313 FAM65B ASS1P1 PPIAP29
GH06F024995 0.2 Ensembl 11.6 +47.0 46988 0.6 CTCF RAD21 ENSG00000229313 FAM65B PPIAP29 ASS1P1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FAM65B on UCSC Golden Path with GeneCards custom track

Promoters for FAM65B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001213780 288 401 HDGF POLR2A IKZF1 YBX1 MLLT1
ENSR00001879311 888 401 HDGF PKNOX1 JUN CHD1 YBX1 ZNF316 JUND PBX2 IKZF1 MLLT1

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

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).

Gene Ontology (GO) - Molecular Function for FAM65B Gene

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

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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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 IEA,IDA 24687993
GO:0005739 mitochondrion IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane 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:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development IEA --
GO:0007605 sensory perception of sound IMP 24958875
GO:0030154 cell differentiation IEA --
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

(1) Drugs for FAM65B Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rifampin Approved Pharma Agonist 337
genes like me logo Genes that share compounds with FAM65B: view

Transcripts for FAM65B Gene

Unigene Clusters for FAM65B Gene

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

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for FAM65B Gene



Protein tissue co-expression partners for FAM65B Gene

NURSA nuclear receptor signaling pathways regulating expression of FAM65B Gene:

FAM65B

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

Primer 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 34 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia FAM65B 34 35
  • 87.68 (n)
cow
(Bos Taurus)
Mammalia FAM65B 34 35
  • 87.31 (n)
mouse
(Mus musculus)
Mammalia Fam65b 34 16 35
  • 84.92 (n)
rat
(Rattus norvegicus)
Mammalia Fam65b 34
  • 84.65 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM65B 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM65B 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM65B 34 35
  • 74.33 (n)
lizard
(Anolis carolinensis)
Reptilia FAM65B 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam65b 34
  • 67.61 (n)
zebrafish
(Danio rerio)
Actinopterygii fam65b 34 35
  • 59.96 (n)
worm
(Caenorhabditis elegans)
Secernentea C27H2.2 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToMany
Species where no ortholog for FAM65B 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)
  • 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
rs875989828 Pathogenic 24,873,800(-) CCATA(A/G)GTGTA splice-acceptor-variant
rs1007237 -- 24,891,718(-) GGGAA(A/C)CAATG intron-variant
rs10214565 -- 25,009,619(+) GGCTT(C/G)TAAAT intron-variant
rs10223484 -- 24,880,168(+) gaaga(C/G)gcata intron-variant
rs1028477 -- 24,961,163(-) TGTAT(C/T)ATAAC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3290n106 CNV deletion 24896259
esv1004432 CNV deletion 20482838
esv1071217 CNV deletion 17803354
esv2171182 CNV deletion 18987734
esv2556930 CNV deletion 19546169
esv2592028 CNV deletion 19546169
esv2667409 CNV deletion 23128226
esv2731716 CNV deletion 23290073
esv2731717 CNV deletion 23290073
esv2731719 CNV deletion 23290073
esv275111 CNV gain+loss 21479260
esv2763543 CNV loss 21179565
esv3287829 CNV deletion 24192839
esv3567433 CNV deletion 23714750
esv3608371 CNV loss 21293372
esv3608374 CNV loss 21293372
esv3608375 CNV loss 21293372
esv5139 CNV loss 18987735
esv6116 CNV loss 19470904
esv998494 CNV deletion 20482838
nsv1030634 CNV gain 25217958
nsv1073543 CNV deletion 25765185
nsv435839 CNV deletion 17901297
nsv478306 CNV novel sequence insertion 20440878
nsv499497 CNV loss 21111241
nsv508396 CNV deletion 20534489
nsv510020 OTHER sequence alteration 20534489
nsv511858 CNV loss 21212237
nsv5227 CNV deletion 18451855
nsv819104 CNV gain 19587683
nsv830609 CNV gain 17160897
nsv830610 CNV loss 17160897
nsv830611 CNV loss 17160897
nsv955809 CNV deletion 24416366
nsv969353 CNV duplication 23825009
nsv981111 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
FAM65B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
  • autosomal recessive nonsyndromic deafness 104
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
reading disorder
  • dyslexia
- 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 64
  2. 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 64
  3. 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 64
  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 64
  5. 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 64

Products for FAM65B Gene

Sources for FAM65B Gene

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