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FAM65B family with sequence similarity 65 member B [ Homo sapiens (human) ]

Gene ID: 9750, updated on 8-May-2016
Official Symbol
FAM65Bprovided by HGNC
Official Full Name
family with sequence similarity 65 member Bprovided by HGNC
Primary source
HGNC:HGNC:13872
See related
Ensembl:ENSG00000111913 HPRD:12881; MIM:611410; Vega:OTTHUMG00000191459
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PL48; DIFF40; DIFF48; MYONAP; C6orf32; DFNB104
Summary
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]
Orthologs
Location:
6p22.3-p21.32
Exon count:
31
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (24804281..25042288, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24804512..24936275, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374979 Neighboring gene uncharacterized LOC105374980 Neighboring gene chromosome 6 open reading frame 229 Neighboring gene uncharacterized LOC105374981 Neighboring gene peptidylprolyl isomerase A pseudogene 29 Neighboring gene uncharacterized LOC102724765 Neighboring gene argininosuccinate synthetase 1 pseudogene 1 Neighboring gene cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene Neighboring gene uncharacterized LOC105374982 Neighboring gene nucleoporin 50 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Deafness, autosomal recessive 104
MedGen: CN232324 OMIM: 616515 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA0386

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
sensory perception of sound IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
apical plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
filopodium IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
stereocilium membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
protein FAM65B
Names
family with sequence similarity 65, member B
myogenesis-related and NCAM-associated protein homolog

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001286445.1NP_001273374.1  protein FAM65B isoform 3

    See identical proteins and their annotated locations for NP_001273374.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon and it thus differs in the 5' UTR and initiates translation at an alternate start codon, and it lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AA760782, AK299047, AL512428, DC428807
    Consensus CDS
    CCDS69058.1
    UniProtKB/TrEMBL
    B7Z5J9, F5GX51
    Related
    ENSP00000441138, ENST00000538035
  2. NM_001286446.1NP_001273375.1  protein FAM65B isoform 4

    See identical proteins and their annotated locations for NP_001273375.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has an alternate 5' exon and it thus differs in the 5' UTR and initiates translation at an alternate start codon, it lacks an alternate in-frame exon in the central coding region, and it lacks multiple 3' exons but includes an alternate 3' exon, compared to variant 1. The encoded isoform (4) has distinct N- and C-termini and is shorter than isoform 1.
    Source sequence(s)
    AK300138, AK300950, AL512428, BC001232, DC406827
    Consensus CDS
    CCDS75410.1
    UniProtKB/Swiss-Prot
    Q9Y4F9
    UniProtKB/TrEMBL
    B7Z6D6, B7Z6U4
    Related
    ENSP00000441305, ENST00000510784
  3. NM_001286447.1NP_001273376.1  protein FAM65B isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has an alternate 5' UTR exon, it lacks an in-frame exon in the central coding region, and it lacks multiple 3' exons but includes an alternate 3' exon, compared to variant 1. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK300138, AL512428, BC001232, CN313643
    Consensus CDS
    CCDS69057.1
    UniProtKB/Swiss-Prot
    Q9Y4F9
    UniProtKB/TrEMBL
    B7Z6D6, F5H029
    Related
    ENSP00000438425, ENST00000540914
  4. NM_014722.3NP_055537.2  protein FAM65B isoform 1

    See identical proteins and their annotated locations for NP_055537.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA760782, AB002384, AK299047, AL512428, BC001232, DA024828
    Consensus CDS
    CCDS47383.1
    UniProtKB/Swiss-Prot
    Q9Y4F9
    UniProtKB/TrEMBL
    A0A024QZY9, B7Z5J9
    Related
    ENSP00000259698, OTTHUMP00000016104, ENST00000259698, OTTHUMT00000040024
  5. NM_015864.3NP_056948.2  protein FAM65B isoform 2

    See identical proteins and their annotated locations for NP_056948.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 5' UTR exon, it lacks an in-frame exon in the central coding region, and it lacks multiple 3' exons but includes an alternate 3' exon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    BC001232, CN313643
    Consensus CDS
    CCDS47384.1
    UniProtKB/Swiss-Prot
    Q9Y4F9
    UniProtKB/TrEMBL
    A0A024R028
    Related
    ENSP00000367262, OTTHUMP00000016105, ENST00000378023, OTTHUMT00000040025

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    24804281..25042288 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515007.1XP_011513309.1  

    See identical proteins and their annotated locations for XP_011513309.1

    UniProtKB/TrEMBL
    F5GX51
  2. XM_006715275.2XP_006715338.1  

  3. XM_011515012.1XP_011513314.1  

    Conserved Domains (1) summary
    cl09111
    Location:127193
    Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
  4. XM_011515009.1XP_011513311.1  

    See identical proteins and their annotated locations for XP_011513311.1

  5. XM_011515008.1XP_011513310.1  

    See identical proteins and their annotated locations for XP_011513310.1

  6. XM_006715278.2XP_006715341.1  

    See identical proteins and their annotated locations for XP_006715341.1

  7. XM_006715277.1XP_006715340.1  

    See identical proteins and their annotated locations for XP_006715340.1

  8. XM_011515010.1XP_011513312.1  

    See identical proteins and their annotated locations for XP_011513312.1

  9. XM_006715279.1XP_006715342.1  

    See identical proteins and their annotated locations for XP_006715342.1

  10. XM_011515011.1XP_011513313.1  

  11. XM_006715281.2XP_006715344.1  

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    24808614..25044502 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)