LHX4 - LIM homeobox 4 Gene

中文名称：LIM 同源框 4

种属: Homo sapiens

同用名: CPHD4

基因 ID: 89884 | 基因类型: protein coding

关于 LHX4

Cytogenetic location: 1q25.2 Genomic coordinates (GRCh38): 1:180,228,375-180,278,984 (from NCBI)

This gene has 3 transcripts (splice variants), 213 orthologues, 20 paralogues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 1.2), placenta (RPKM 0.8) and 24 other tissues.

功能概要

该基因编码一个大型蛋白质家族的成员，该家族包含 LIM 结构域，这是一个独特的富含半胱氨酸的锌结合结构域。所编码的蛋白质是参与控制脑垂体分化和发育的转录因子。该基因的突变导致垂体激素联合缺乏症 4。[RefSeq 提供，2010 年 12 月]

This gene encodes a member of a large protein family which contains the LIM domain, a unique cysteine-rich zinc-binding domain. The encoded protein is a transcription factor involved in the control of differentiation and development of the pituitary gland. Mutations in this gene cause combined pituitary hormone deficiency 4. [provided by RefSeq, Dec 2010]

LHX4 基因产物(1)

mRNA	Protein	Name
NM_033343.4	NP_203129.1	LIM/homeobox protein Lhx4

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	15998782	GOA
enables methyl-CpG binding	IDA IDA: 通过直接分析推断	28473536	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20211142	GOA
enables sequence-specific DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	15998782	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

LHX4 蛋白结构

LIM

Homeobox

0
100
200
300
390 a.a.

蛋白主名

其他名称

LIM/homeobox protein Lhx4

LIM homeobox protein 4

LHX4 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	LHX4	Q969G2	FDX2	Homo sapiens	Q6P4F2	Y2H Array	25416956
种属内	LHX4	Q969G2	FDX2	Homo sapiens	Q6P4F2	Y2H Prey Pooling	25416956
种属内	LHX4	Q969G2	LDB1	Homo sapiens	Q86U70-2	Anti Tag CoIP	28514442
种属内	LHX4	Q969G2	MRS2	Homo sapiens	Q9HD23-2	Validated Y2H	32296183
种属内	LHX4	Q969G2	PARP11	Homo sapiens	Q9NR21-1	Validated Y2H	32296183
种属内	LHX4	Q969G2	ISL2	Homo sapiens	Q96A47	Anti Tag CoIP	27820671
种属内	LHX4	Q969G2	ISL2	Homo sapiens	Q96A47	BioID	35140242
种属内	LHX4	Q969G2	ISL2	Homo sapiens	Q96A47	Affinity Chrom	35140242
种属内	LHX4	Q969G2	ISL2	Homo sapiens	Q96A47	Anti Tag CoIP	33961781
种属内	LHX4	Q969G2	ISL2	Homo sapiens	Q96A47	Anti Tag CoIP	28514442
种属内	LHX4	Q969G2	CHCHD2	Homo sapiens	Q9Y6H1	Y2H Prey Pooling	25416956
种属内	LHX4	Q969G2	LONRF1	Homo sapiens	Q17RB8	Validated Y2H	25416956
种属内	LHX4	Q969G2	ERO1A	Homo sapiens	Q96HE7	Validated Y2H	32296183
种属内	LHX4	Q969G2	TXNDC5	Homo sapiens	Q86UY0	Y2H Prey Pooling	25416956
种属内	LHX4	Q969G2	TXNDC5	Homo sapiens	Q86UY0	Validated Y2H	25416956
种属内	LHX4	Q969G2	TXNDC5	Homo sapiens	Q86UY0	Y2H Array	25416956
种属内	LHX4	Q969G2	CORO1B	Homo sapiens	Q9BR76	Validated Y2H	32296183
种属内	LHX4	Q969G2	ORC6	Homo sapiens	Q9Y5N6	Validated Y2H	32296183
种属内	LHX4	Q969G2	ORC6	Homo sapiens	Q9Y5N6	Y2H Array	25416956
种属内	LHX4	Q969G2	ORC6	Homo sapiens	Q9Y5N6	Y2H Prey Pooling	25416956
种属内	LHX4	Q969G2	ORC6	Homo sapiens	Q9Y5N6	Y2H Array	31515488
种属内	LHX4	Q969G2	ISL1	Homo sapiens	P61371	Anti Tag CoIP	28514442
种属内	LHX4	Q969G2	ISL1	Homo sapiens	P61371	Anti Tag CoIP	33961781
种属内	LHX4	Q969G2	SH2D1A	Homo sapiens	O60880	MAPPIT	25416956
种属内	LHX4	Q969G2	SH2D1A	Homo sapiens	O60880	Validated Y2H	25416956
种属内	LHX4	Q969G2	WASHC3	Homo sapiens	Q9Y3C0	Validated Y2H	32296183
种属内	LHX4	Q969G2	INO80B	Homo sapiens	Q9C086	Validated Y2H	32296183
种属内	LHX4	Q969G2	MAPRE3	Homo sapiens	Q9UPY8	Validated Y2H	32296183
种属内	LHX4	Q969G2	USP2	Homo sapiens	O75604	Y2H Prey Pooling	25416956
种属内	LHX4	Q969G2	USP2	Homo sapiens	O75604	Validated Y2H	25416956
种属内	LHX4	Q969G2	MYOZ1	Homo sapiens	Q9NP98	Validated Y2H	32296183
种属内	LHX4	Q969G2	DHRS1	Homo sapiens	Q96LJ7	Validated Y2H	32296183
种属内	LHX4	Q969G2	YY1	Homo sapiens	P25490	BioID	35140242
种属内	LHX4	Q969G2	SNRNP25	Homo sapiens	Q9BV90	Validated Y2H	25416956
种属内	LHX4	Q969G2	SNRNP25	Homo sapiens	Q9BV90	Validated Y2H	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

Pituitary Hormone Deficiency, Combined, 4

Short Stature-Pituitary And Cerebellar Defects-Small Sella Turcica Syndrome	CPHD4
Pituitary Hormone Deficiency, Combined, With Or Without Cerebellar Defects	Short Stature, Pituitary And Cerebellar Defects, And Small Sella Turcica
Pituitary Hormone Deficiency, Combined 4	Pituitary Hormone Deficiency, Combined With Or Without Cerebellar Defects
Short Stature, Pituitary And Cerebellar Defects And Small Sella Turcica	Pituitary Hormone Deficiency Combined With Or Without Cerebellar Defects
Short Stature Pituitary And Cerebellar Defects And Small Sella Turcica	Hormone Deficiency, Pituitary, Combined, Type 4

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

Combined Pituitary Hormone Deficiencies, Genetic Forms

Congenital Hypopituitarism	Pituitary Hormone Deficiency, Combined 1
Congenital Combined Pituitary Hormone Deficiency	Non-Acquired Combined Pituitary Hormone Deficiency
Cphd1	Familial Congenital Hypopituitarism
Multiple Pituitary Hormone Deficiencies, Genetic Forms	Combined Pituitary Hormone Deficiencies, Genetic Form
Hormone Deficiency, Pituitary, Combined, Type 1

Pituitary Stalk Interruption Syndrome

Ectopic Neurohypophysis

Psis

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

Pituitary Hypoplasia

Hypoplasia Of The Pituitary Gland

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

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

Sheehan Syndrome

Postpartum Hypopituitarism	Sheehan'S Syndrome
Postpartum Panhypopituitarism	Postpartum Panhypopituitary Syndrome
Postpartum Pituitary Necrosis	Simmond'S Disease

Culler-Jones Syndrome

Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome	CJS
Pallister-Hall Syndrome 2, Formerly	Phs2, Formerly
Pallister-Hall Syndrome 2	Phs2

Pituitary Gland Disease

Pituitary Diseases	Pituitary Dysfunction
Pituitary Disease	Pituitary Deficiency
Pituitary Disorders

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

Panhypopituitarism, X-Linked

PHPX	X-Linked Panhypopituitarism
Pituitary Dwarfism Iv	Panhypopituitarism X-Linked
Pituitary Dwarfism Iv, Formerly	Panhypopituitarism - X-Linked

Hypogonadotropic Hypogonadism

Klinefelter Syndrome	Klinefelter'S Syndrome
Xxy Syndrome	Xxy Trisomy
Hypogonadotropism	47, Xxy
Congenital Idiopathic Hypogonadotropic Hypogonadism	Isolated Congenital Gonadotropin Deficiency
47,Xxy Syndrome	47, Xxy Syndrome
Klinefelters Syndrome	Hypogonadism
Klinefelter Syndrome In Males	Klinefelter Syndrome, Unspecified
Klinefelter Syndrome Karyotype 47, Xxy

Hypothyroidism

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

Otopalatodigital Syndrome, Type I

Otopalatodigital Syndrome Type 1	Taybi Syndrome
OPD1	Opd Syndrome 1
Oto-Palato-Digital Syndrome Type 1	Opd I Syndrome
Oto-Palato-Digital Syndrome, Type I	Otopalatodigital Syndrome Type I
Opd Syndrome	Cranioorodigital Syndrome
Faciopalatoosseous Syndrome	Fpo
Opd Syndrome, Type 1	Otopalatodigital Syndrome 1

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets	X-Linked Recessive Hypophosphatemic Rickets
XLRHR	Hypophosphatemic Rickets Disorders
Rickets Hypophosphatemic	Rickets, Hypophosphatemic, X-Linked Recessive
Familial Hypophosphatemic Rickets

Pallister-Hall Syndrome

PHS	Hypothalamic Hamartomas
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly	Hypothalamic Hamartoblastoma Syndrome
Hamartoma Of The Hypothalamus	Pallister Hall Syndrome
Hall-Pallister Syndrome	Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
Hamartoma, Hypothalamic

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

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

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 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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS07634	LHX4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	LHX4	VGNC	VGNC:107893
Rattus norvegicus	LHX4	RGD	RGD:1308044
Canis familiaris	LHX4	VGNC	VGNC:42665
Mus musculus	LHX4	MGD	MGI:101776
Macaca mulatta	LHX4	VGNC	VGNC:106402
Bos taurus	LHX4	VGNC	VGNC:30874

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