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

    Gene ID: 727857, updated on 4-Sep-2022

    Summary

    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; AllianceGenome:HGNC:35126
    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
    CCSPD; 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
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    Genomic context

    See BHLHA9 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1270444..1271815)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1161409..1162780)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1173738..1175109)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ABR activator of RhoGEF and GTPase Neighboring gene mitochondrial ribosomal protein L14 pseudogene 1 Neighboring gene ABR antisense RNA 1 Neighboring gene trafficking regulator of GLUT4 (SLC2A4) 1 Neighboring gene Sharpr-MPRA regulatory region 14526 Neighboring gene tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in developmental process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    class A basic helix-loop-helix protein 9
    Names
    Fingerin
    class F basic helix-loop-helix factor 42
    class II basic helix-loop-helix protein

    NCBI Reference Sequences (RefSeq)

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    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
      4881..6252
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001164405.2NP_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
      A8MSH6, Q7RTU4
      Related
      ENSP00000375248.1, ENST00000391429.2
      Conserved Domains (1) summary
      pfam00010
      Location:66117
      HLH; Helix-loop-helix DNA-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      1270444..1271815
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      1161409..1162780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)