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    BHLHA9 basic helix-loop-helix family member a9 [ Homo sapiens (human) ]

    Gene ID: 727857, updated on 16-Jul-2016
    Official Symbol
    BHLHA9provided by HGNC
    Official Full Name
    basic helix-loop-helix family member a9provided by HGNC
    Primary source
    HGNC:HGNC:35126
    See related
    Ensembl:ENSG00000205899 MIM:615416; Vega:OTTHUMG00000132192
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BHLHF42
    Summary
    This gene is a member of the basic helix-loop-helix family. The encoded protein is a transcription factor involved in limb development. Mutations in this gene have been associated with mesoaxial synostotic syndactyly Malik-Percin type (MSSD). Copy number variation of a locus containing this gene has been linked to a form of split-hand/foot malformation with long bone deficiency (SHFLD3). [provided by RefSeq, Mar 2015]
    Orthologs
    Location:
    17p13.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (1270564..1271271)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1173858..1174565)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene active BCR-related Neighboring gene uncharacterized LOC105371479 Neighboring gene uncharacterized LOC107984980 Neighboring gene tumor suppressor candidate 5 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    class A basic helix-loop-helix protein 9
    Names
    Fingerin
    basic helix-loop-helix family, member a9
    class F basic helix-loop-helix factor 42
    class II basic helix-loop-helix protein

    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.

    Genomic

    1. NG_042055.1 RefSeqGene

      Range
      5001..5708
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164405.1NP_001157877.1  class A basic helix-loop-helix protein 9

      See identical proteins and their annotated locations for NP_001157877.1

      Status: REVIEWED

      Source sequence(s)
      AC032044
      Consensus CDS
      CCDS45560.1
      UniProtKB/Swiss-Prot
      Q7RTU4
      Related
      ENSP00000375248, OTTHUMP00000163050, ENST00000391429, OTTHUMT00000255245
      Conserved Domains (1) summary
      pfam00010
      Location:66117
      HLH; Helix-loop-helix DNA-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      1270564..1271271
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      1182711..1183418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)