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GeneQ18061226· pop 5· linked from 811 articles

BHLHA9

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Also known as BHLHF42, basic helix-loop-helix family member a9, CCSPD

Basic helix-loop-helix family, member a9 is a protein in humans that is encoded by the BHLHA9 gene.

In the Vinony graph

Within Vinony's link graph, BHLHA9 is referenced by 811 other articles, and connects out to PubMed, human chromosome 17 and homeobox.

Vinony files it under Genes on human chromosome 17 and Protein domains.

Its subject is documented across 5 Wikipedia language editions.

Gene data

BHLHA9

Name: basic helix-loop-helix family member a9
Type: protein-coding
Position: 1,270,444–1,271,815 (+)
Aliases: BHLHF42, CCSPD
Ensembl: ENSG00000205899
RefSeq RNA: NM_001164405.2
RefSeq protein: NP_001157877.1

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].

Gene Ontology

Biological process

regulation of transcription by RNA polymerase II developmental process

Molecular function

RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific protein binding protein heterodimerization activity protein dimerization activity

Cellular component

chromatin nucleus nucleus cytoplasm cytoplasm

via MyGene.info

Gene · Ensembl

basic helix-loop-helix family member a9

Symbol: BHLHA9
Biotype: Protein coding
Organism: Homo sapiens
Location: 17:1,270,444-1,271,815
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 8 more facts

HomoloGene ID: 82363
genomic start: 1270444
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/727857
genomic end: 1271815
chromosome: human chromosome 17
cytogenetic location: 17p13.3
expressed in: amygdala

Sources (5)

via Wikidata · CC0

~1 min read

Encyclopedic overview

3 sections

Contents

References
External links
Further reading

Basic helix-loop-helix family, member a9 is a protein in humans that is encoded by the BHLHA9 gene.

== References ==

Excerpted from Wikipedia’s “BHLHA9” article, available under the CC BY-SA 4.0 licence.

Available in 5 languages

via Wikidata sitelinks · CC0

Categories

Genes on human chromosome 17 Protein domains