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

Homo sapiens

Also known as CCSPD; BHLHF42

Gene ID: 727857 | Gene type: protein coding

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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

Bioactive Molecules (1)

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

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