LHX3 - LIM homeobox 3 Gene

中文名称：LIM 同源框 3

种属: Homo sapiens

同用名: LIM3; CPHD3; M2-LHX3

基因 ID: 8022 | 基因类型: protein coding

关于 LHX3

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:136,196,250-136,205,128 (from NCBI)

This gene has 4 transcripts (splice variants), 201 orthologues, 20 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码携带 LIM 结构域的一大类蛋白质的成员，LIM 结构域是一种独特的富含半胱氨酸的锌结合结构域。编码的蛋白质是垂体发育和运动神经元规范所需的转录因子。该基因的突变导致垂体激素联合缺乏症 3。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2015 年 12 月]

This gene encodes a member of a large family of proteins which carry the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor that is required for pituitary development and motor neuron specification. Mutations in this gene cause combined pituitary hormone deficiency 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

LHX3 基因产物(3)

mRNA	Protein	Name
NM_001363746.1	NP_001350675.1	LIM/homeobox protein Lhx3 isoform c
NM_014564.5	NP_055379.1	LIM/homeobox protein Lhx3 isoform b
NM_178138.6	NP_835258.1	LIM/homeobox protein Lhx3 isoform a

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	15271874	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: 通过物理相互作用推断	26612202	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32296183	GOA
enables sequence-specific DNA binding	IDA IDA: 通过直接分析推断	15271874	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in inner ear development	IEP IEP: 通过表达模式推断	18407919	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	15271874	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

LHX3 蛋白结构

LIM

Homeobox

0
100
200
300
397 a.a.

蛋白主名

其他名称

LIM/homeobox protein Lhx3

LIM homeobox protein 3

LHX3 抗体

目录号	产品名	应用	反应物种
HY-P82953	LHX3 Antibody (YA2698)	WB, IP, FC	Human, Mouse, Rat

关联疾病

疾病名称

别名

Pituitary Hormone Deficiency, Combined, 3

CPHD3	Non-Acquired Combined Pituitary Hormone Deficiency-Deafness-Rigid Cervical Spine Syndrome
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Pituitary Hormone Deficiency, Combined, With Rigid Cervical Spine
Deafness, Sensorineural, With Pituitary Dwarfism	Pituitary Hormone Deficiency, Combined 3
Winkelmann-Bethge-Pfeiffer Syndrome	Combined Pituitary Hormone Deficiency With Rigid Cervical Spine
Sensorineural Deafness With Pituitary Dwarfism	Pituitary Hormone Deficiency, Combined With Rigid Cervical Spine
Hormone Deficiency, Pituitary, Combined, Type 3

Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function

Hypopituitarism

Pituitary Hypofunction	Pituitary Insufficiency
Pituitary Hormone Deficiency	Subpituitarism
Hypophyseal Dystrophy	Hypohypophysism
Anterior Pituitary Insufficiency	Deficient Secretion Of One Or More Pituitary Hormones
Hypopituitarism Syndrome	Pituitary Deficiency
Pituitary Failure	Pituitary Insufficiency Nos
Anterior Pituitary Hypofunction	Deficient Secretion Of All Pituitary Hormones
Hypopituitary Dwarfism	Hyposomatotropic Dwarfism
Hypophyseal Dwarfism	Hypopituitary Cachexia
Hypophyseal Short Stature	Panhypopituitarism Syndrome
Pituitary Cachexia	Juvenile Hypopituitarism
Pituitary Dwarfism	Pituitary Gland Hypofunction
Primary Hypopituitarism	Secondary Hypogonadism
Prepubertal Panhypopituitarism	Prepubertal Dwarfism
Postpartum Panhypopituitary Syndrome	Postpartum Hypopituitarism
Pituitary Short Stature	Pituitary Infantilism
Pituitary Hypogonadism	Pituitary Hypoadrenocorticism

Pituitary Hormone Deficiency, Combined, 2

Panhypopituitarism	Combined Pituitary Hormone Deficiency
CPHD2	Ateliotic Dwarfism With Hypogonadism
Pituitary Dwarfism Iii	Hanhart Dwarfism
Simmond'S Disease	Simmonds' Disease
Cphd	Pituitary Hormone Deficiency, Combined
Hormone Deficiency, Pituitary, Combined, Type 2	Pituitary Dwarfism Type 3
Sheehan Syndrome

Septooptic Dysplasia

Septo-Optic Dysplasia	De Morsier Syndrome
Growth Hormone Deficiency With Pituitary Anomalies	SOD
Pituitary Hormone Deficiency, Combined, 5	Septo-Optic Dysplasia Spectrum
Septo-Optic Dysplasia With Growth Hormone Deficiency	Pituitary Hormone Deficiency, Combined 5
Hypopituitarism And Septooptic 'Dysplasia'	GHDPA
CPHD5	Dysplasia, Septo-Optic
Kallmann Syndrome

Pituitary Gland Disease

Pituitary Diseases	Pituitary Dysfunction
Pituitary Disease	Pituitary Deficiency
Pituitary Disorders

Empty Sella Syndrome

Empty Sella Turcica

Empty Sella

Nutritional Deficiency Disease

Malnutrition	Nutritional Disorder
Nutritional Deficiency	Nutrition
Deficiency Diseases	Carbamoyl-Phosphate Synthase I Deficiency Disease
Nutrition Disorders

Hypothyroidism

Thyroid Diseases	Thyroid Disease
Thyroid Deficiency	Thyroid Insufficiency
Dysfunction Thyroid	Thyroid Dysfunction

Pituitary Hypoplasia

Hypoplasia Of The Pituitary Gland

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Acth Deficiency, Isolated

Adrenocorticotropic Hormone Deficiency	IAD
Congenital Isolated Acth Deficiency	Isolated Acth Deficiency
Isolated Adrenocorticotropic Hormone Deficiency	Adrenocorticotropic Hormone Deficiency
Adrenocorticotropic Hormone [Acth] Deficiency	Secondary Adrenocortical Insufficiency

Deafness, Autosomal Dominant 15

DFNA15	Autosomal Dominant Nonsyndromic Deafness 15
Autosomal Dominant Deafness 15	Deafness, Autosomal Dominant, 15
Deafness, Autosomal Dominant, Type 15

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Isolated Growth Hormone Deficiency

Congenital Ighd	Congenital Isolated Gh Deficiency
Congenital Isolated Growth Hormone Deficiency	Non-Acquired Isolated Growth Hormone Deficiency
Pituitary Dwarfism	Dwarfism, Pituitary
Isolated Somatotropin Deficiency	Isolated Congenital Growth Hormone Deficiency
Familial Isolated Growth Hormone Deficiency	Ighd
Dwarfism, Growth Hormone Deficiency	Growth Hormone Deficiency Dwarfism
Isolated Gh Deficiency	Isolated Hgh Deficiency
Isolated Human Growth Hormone Deficiency	Isolated Somatotropin Deficiency Disorder
Dwarfism Pituitary

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

Congenital Hypothyroidism

Cretinism	Neonatal Hypothyroidism
Ch	Cht
Congenital Myxedema	Myxedema, Congenital
Endemic Cretinism	Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome	Congenital Iodine-Deficiency Hypothyroidism Nos

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07633	LHX3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	LHX3	VGNC	VGNC:30873
Rattus norvegicus	LHX3	RGD	RGD:71078
Felis catus	LHX3	VGNC	VGNC:102948
Canis familiaris	LHX3	VGNC	VGNC:42664
Mus musculus	LHX3	MGD	MGI:102673
Macaca mulatta	LHX3	VGNC	VGNC:74263

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

LHX3 - LIM homeobox 3 Gene

关于 LHX3

功能概要

LHX3 基因产物(3)

LHX3 蛋白结构

LHX3 抗体

关联疾病

直系同源

热门区域

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LHX3 - LIM homeobox 3 Gene

关于 LHX3

功能概要

LHX3 基因产物(3)

LHX3 蛋白结构

LHX3 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z