BHLHA9 - basic helix-loop-helix family member a9 Gene

Also Known as CCSPD; BHLHF42

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 727857

About BHLHA9

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,270,444-1,271,815 (from NCBI)

This gene has 1 transcript (splice variant), 190 orthologues, 13 paralogues and is associated with 7 phenotypes.

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]

BHLHA9 Products (1)

mRNA	Protein	Name
NM_001164405.2	NP_001157877.1	class A basic helix-loop-helix protein 9

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25466284	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	25466284	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25466284	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BHLHA9 Protein Structure

HLH

0
100
200
235 a.a.

Protein Preferred Names	Protein Names
class A basic helix-loop-helix protein 9	Fingerin

BHLHA9 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BHLHA9	Q7RTU4	TFIP11	Homo sapiens	Q9UBB9	Validated Y2H	32296183
Intra	BHLHA9	Q7RTU4	TFIP11	Homo sapiens	Q9UBB9	Y2H Array	32296183
Intra	BHLHA9	Q7RTU4	TFIP11	Homo sapiens	Q9UBB9	Y2H Prey Pooling	32296183
Intra	BHLHA9	Q7RTU4	NECAB1	Homo sapiens	Q8N987	Y2H Prey Pooling	32296183
Intra	BHLHA9	Q7RTU4	NECAB1	Homo sapiens	Q8N987	Validated Y2H	32296183
Intra	BHLHA9	Q7RTU4	NECAB1	Homo sapiens	Q8N987	Y2H Array	32296183
Intra	BHLHA9	Q7RTU4	POMC	Homo sapiens	P01189	Y2H Prey Pooling	32296183
Intra	BHLHA9	Q7RTU4	POMC	Homo sapiens	P01189	Y2H Array	32296183
Intra	BHLHA9	Q7RTU4	KIAA0753	Homo sapiens	Q2KHM9	Y2H Prey Pooling	32296183
Intra	BHLHA9	Q7RTU4	KIAA0753	Homo sapiens	Q2KHM9	Y2H Array	32296183
Intra	BHLHA9	Q7RTU4	MCRS1	Homo sapiens	Q96EZ8	Validated Y2H	32296183
Intra	BHLHA9	Q7RTU4	MCRS1	Homo sapiens	Q96EZ8	Y2H Array	32296183
Intra	BHLHA9	Q7RTU4	MCRS1	Homo sapiens	Q96EZ8	Y2H Prey Pooling	32296183
Intra	BHLHA9	Q7RTU4	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Prey Pooling	32296183
Intra	BHLHA9	Q7RTU4	GOLGA6L9	Homo sapiens	A6NEM1	Y2H Array	32296183
Intra	BHLHA9	Q7RTU4	BCL2L2	Homo sapiens	Q92843	Validated Y2H	32296183
Intra	BHLHA9	Q7RTU4	PPP1R12C	Homo sapiens	Q9BZL4	Y2H Prey Pooling	32296183
Intra	BHLHA9	Q7RTU4	PPP1R12C	Homo sapiens	Q9BZL4	Y2H Array	32296183
Intra	BHLHA9	Q7RTU4	PPP1R12C	Homo sapiens	Q9BZL4	Validated Y2H	32296183
Intra	BHLHA9	Q7RTU4	KRT31	Homo sapiens	Q15323	Y2H Prey Pooling	32296183
Intra	BHLHA9	Q7RTU4	KRT31	Homo sapiens	Q15323	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	MSSD Syndactyly, Malik-Percin Type Mesoaxial Synostotic Syndactyly With Phalangeal Reduction Syndactyly, Type Ix Syndactyly Type 9 Syndactyly Malik-Percin Type Syndactyly Mesoaxial Synostotic With Phalangeal Reduction Mesoaxial Synostotic Syndactyly, Malik-Percin Type
Camptosynpolydactyly, Complex	CCSPD Camptopolydactyly, Disorganization Type
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia Of Tibia With Split-Hand/Split-Foot Deformity Shfld Syndrome Shfm Associated With Aplasia Of Long Bones Split Hand/Foot Malformation With Long Bone Deficiency Split-Hand/Foot Malformation Associated With Aplasia Of Long Bones Th-Shfm Tibial Hemimelia With Split Hand/Foot Malformation Tibial Hemimelia-Ectrodactyly Syndrome
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Gollop-Wolfgang Complex Gwc Femur Bifid With Monodactylous Ectrodactyly Bifid Femur-Monodactylous Ectrodactyly Syndrome
Split Hand-Foot Malformation	Ectrodactyly Split-Hand/Foot Malformation Lobster-Claw Deformity Split-Hand Deformity Split Hand Foot Malformation Shfm Split Hand Foot Deformity Split Hand Foot Deformity 1
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3 EEC3 Eec Syndrome 3 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Type 3
Split-Hand/Foot Malformation 3	SHFM3 Split Hand-Foot Malformation 3 Chromosome 10q24 Duplication Syndrome Shsf3 Limb Deficiencies, Distal, With Micrognathia Split-Hand/Foot Malformation 3, Gene Duplication Syndrome Distal Limb Deficiencies With Micrognathia Limb Deficiencies Distal With Micrognathia Buttiens Fryns Syndrome Distal Limb Deficiencies-Micrognathia Syndrome 10q24 Microduplication Syndrome Buttiens-Fryns Syndrome Split-Hand/Foot Malformation, Type 3, Gene Duplication Syndrome
Synostosis
Chromosome 17p13.3, Centromeric, Duplication Syndrome	Chromosome 17p13.3 Duplication Syndrome 17p13.3 Duplication Syndrome 17p13.3 Microduplication Syndrome Trisomy 17p13.3 Chromosome 17p13.3 Centromeric Duplication Syndrome Dup(17)(P13.3)
Split-Hand/Foot Malformation 4	SHFM4 Split Hand-Foot Malformation 4 Split-Hand/Foot Malformation, Type 4
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Poland Syndrome	Poland Anomaly Poland Sequence Poland Syndactyly Poland'S Syndrome Poland'S Anomaly Poland'S Syndactyly Acro-Pectoro-Renal Field Defect Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand
Metacarpal 4-5 Fusion	Syndactyly Type 8 MF4 Fusion Of Metacarpals 4 And 5 Metacarpals 4 And 5 Fusion Metacarpal 4 5 Fusion
Miller-Dieker Lissencephaly Syndrome	Miller-Dieker Syndrome Mds MDLS Miller Dieker Syndrome Classical Lissencephaly Syndrome Lissencephaly Due To 17p13.3 Deletion Monosomy 17p13.3 Telomeric Deletion 17p Classical Lissencephaly
Spondyloepimetaphyseal Dysplasia, X-Linked	X-Linked Spondyloepimetaphyseal Dysplasia SEMDX Semd, X-Linked Semd X-Linked Spondyloepimetaphyseal Dysplasia X-Linked Spondylo-Epimetaphyseal Dysplasia
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss SHFM1D Deafness, Congenital, With Split Hands And Feet Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss Congenital Deafness With Split Hands And Feet Split Hand-Split Foot-Deafness Syndrome Split Hand-Split Foot-Hearing Loss Syndrome Congenital Deafness And Split Hands And Feet Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss Split-Hand-Foot Malformation With Sensorineural Hearing Loss
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hay-Wells Syndrome Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome Aec Syndrome AEC Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome Seres-Santamaria Arimany Muniz Syndrome Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects Ankyloblepharon Ectodermal Defects Cleft Lip/Palate Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate Rapp-Hodgkin Syndrome
Laurin-Sandrow Syndrome	Sandrow Syndrome Tetramelic Mirror-Image Polydactyly Mirror-Image Polydactyly Mirror Hands And Feet With Nasal Defects Tmip LSS Mip Mirror Hands And Feets-Nasal Defects Syndrome Fibula And Ulna, Duplication Of, With Absence Of Tibia And Radius Miccor Hands And Feet With Nasal Defects Mipduplication Of Fibuland Ulna With Absence Of Tibia And Radius Fibula Ulna Duplication Tibia Radius Absence Laurin Sandrow Syndrome Duplication Of Fibula And Ulna With Absence Of Tibia And Radius Segmental Laurin-Sandrow Syndrome Laurin-Sandrow Syndrome, Segmental
Rapp-Hodgkin Syndrome	RHS Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate Ectodermal Dysplasia, Rapp-Hodgkin Type Rapp-Hodgkin Ectodermal Dysplasia Syndrome Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type Edrh Rapp-Hodgkin Ectodermal Dysplasia Orofacial Cleft 8
Chromosomal Duplication Syndrome
Chromosome 2q35 Duplication Syndrome	Syndactyly Syndactyly Type 1 Sdty1 Zygodactyly Syndactyly, Type I Sd1 Syndactyly, Type 1, With Or Without Craniosynostosis Symphalangism Non-Syndromic Syndactyly Symphalangy Webbing Of Digits Syndactyly, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01491	BHLHA9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BHLHA9	VGNC	VGNC:26483
Mus musculus	BHLHA9	MGD	MGI:2444198
Felis catus	BHLHA9	VGNC	VGNC:60110
Rattus norvegicus	BHLHA9	RGD	RGD:1311234
Others	BHLHA9	NCBI