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

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

中文名称:基本螺旋-环-螺旋家族成员 a9

种属: Homo sapiens

同用名: CCSPD; BHLHF42

基因 ID: 727857 | 基因类型: protein coding

关于 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.

功能概要

该基因是基本螺旋-环-螺旋家族的成员。编码的蛋白质是参与肢体发育的转录因子。该基因的突变与中轴性联合并指 Malik-Percin 型 (MSSD) 有关。含有该基因的基因座的拷贝数变异与一种伴有长骨缺损的手/足裂畸形 (SHFLD3) 相关联。[RefSeq 提供,2015 年 3 月]

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 基因产物(1)

mRNA Protein Name
NM_001164405.2 NP_001157877.1 class A basic helix-loop-helix protein 9
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25466284 GOA
enables protein heterodimerization activity IDA
IDA: 通过直接分析推断
25466284 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
25466284 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

BHLHA9 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (66 - 117)

  • 0
  • 100
  • 200
  • 235 a.a.
蛋白主名 其他名称

class A basic helix-loop-helix protein 9

Fingerin

BHLHA9 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
BHLHA9 Q7RTU4 TFIP11 Homo sapiens Q9UBB9
Validated Y2H
32296183
种属内
BHLHA9 Q7RTU4 TFIP11 Homo sapiens Q9UBB9
Y2H Array
32296183
种属内
BHLHA9 Q7RTU4 TFIP11 Homo sapiens Q9UBB9
Y2H Prey Pooling
32296183
种属内
BHLHA9 Q7RTU4 NECAB1 Homo sapiens Q8N987
Y2H Prey Pooling
32296183
种属内
BHLHA9 Q7RTU4 NECAB1 Homo sapiens Q8N987
Validated Y2H
32296183
种属内
BHLHA9 Q7RTU4 NECAB1 Homo sapiens Q8N987
Y2H Array
32296183
种属内
BHLHA9 Q7RTU4 POMC Homo sapiens P01189
Y2H Prey Pooling
32296183
种属内
BHLHA9 Q7RTU4 POMC Homo sapiens P01189
Y2H Array
32296183
种属内
BHLHA9 Q7RTU4 KIAA0753 Homo sapiens Q2KHM9
Y2H Prey Pooling
32296183
种属内
BHLHA9 Q7RTU4 KIAA0753 Homo sapiens Q2KHM9
Y2H Array
32296183
种属内
BHLHA9 Q7RTU4 MCRS1 Homo sapiens Q96EZ8
Validated Y2H
32296183
种属内
BHLHA9 Q7RTU4 MCRS1 Homo sapiens Q96EZ8
Y2H Array
32296183
种属内
BHLHA9 Q7RTU4 MCRS1 Homo sapiens Q96EZ8
Y2H Prey Pooling
32296183
种属内
BHLHA9 Q7RTU4 GOLGA6L9 Homo sapiens A6NEM1
Y2H Prey Pooling
32296183
种属内
BHLHA9 Q7RTU4 GOLGA6L9 Homo sapiens A6NEM1
Y2H Array
32296183
种属内
BHLHA9 Q7RTU4 BCL2L2 Homo sapiens Q92843
Validated Y2H
32296183
种属内
BHLHA9 Q7RTU4 PPP1R12C Homo sapiens Q9BZL4
Y2H Prey Pooling
32296183
种属内
BHLHA9 Q7RTU4 PPP1R12C Homo sapiens Q9BZL4
Y2H Array
32296183
种属内
BHLHA9 Q7RTU4 PPP1R12C Homo sapiens Q9BZL4
Validated Y2H
32296183
种属内
BHLHA9 Q7RTU4 KRT31 Homo sapiens Q15323
Y2H Prey Pooling
32296183
种属内
BHLHA9 Q7RTU4 KRT31 Homo sapiens Q15323
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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