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

Gene ID: 727857, updated on 7-Jun-2020

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
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

Genomic context

See BHLHA9 in Genome Data Viewer
Location:
17p13.3
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (1270444..1271815)
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 ABR activator of RhoGEF and GTPase Neighboring gene uncharacterized LOC105371479 Neighboring gene uncharacterized LOC107984980 Neighboring gene trafficking regulator of GLUT4 (SLC2A4) 1 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
developmental process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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