2. Gene
  3. GH2 - growth hormone 2 Gene

GH2 - growth hormone 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：生长激素 2

种属: Homo sapiens

同用名: GHL; GHV; GH-V; GHB2; hGH-V

基因 ID: 2689 | 基因类型: protein coding

关于 GH2

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:63,880,215-63,881,944 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues and 5 paralogues. Restricted expression toward placenta (RPKM 103.3).

功能概要

由该基因编码的蛋白质是生长激素/催乳素激素家族的成员，在生长控制中起着重要作用。该基因与其他四个相关基因位于 17 号染色体上的生长激素位点，它们以相同的转录方向散布在该位点；一种被认为是由一系列基因复制进化而来的排列。这五个基因具有非常高的序列同一性。选择性剪接会产生五种生长激素中每一种的额外亚型，从而导致进一步的多样性和专业化的潜力。与其垂体对应物生长激素 1 的情况一样，该特定家族成员的主要亚型显示出相似的促生长活性，但泌乳活性降低。该基因的突变导致胎盘生长激素/催乳素缺乏。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a member of the somatotropin/Prolactin family of Hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth Hormones, leading to further diversity and potential for specialization. As in the case of its pituitary counterpart, growth hormone 1, the predominant isoform of this particular family member shows similar somatogenic activity, with reduced lactogenic activity. Mutations in this gene lead to placental growth hormone/lactogen deficiency. [provided by RefSeq, Jul 2008]

GH2 基因产物(4)

mRNA Protein Name
NM_002059.5 NP_002050.1 growth hormone variant isoform 1 precursor
NM_022556.4 NP_072050.1 growth hormone variant isoform 4 precursor
NM_022557.4 NP_072051.1 growth hormone variant isoform 2 precursor
NM_022558.4 NP_072052.1 growth hormone variant isoform 3 precursor

GH2 蛋白结构

Hormone_1

Hormone_1: Somatotropin hormone family (9 - 215)

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

growth hormone variant

growth hormone B2

关联疾病

疾病名称 别名
Protein-Deficiency Anemia

Anemia Due To Protein Deficiency

Protein-Deficiency Anaemia

Amino-Acid Deficiency Anaemia

Anaemia Due To Amino-Acid Disorder
Choriocarcinoma

Chorioepithelioma
Diencephalic Astrocytoma

Astrocytoma Of Diencephalon
Adermatoglyphia

ADERM

Immigration Delay Disease

Absence Of Fingerprints

Adg

Congenital Absence Of Fingerprints

Isolated Congenital Adermatoglyphia

Fingerprints, Absence Of

Skin Abnormalities
Gaba Aminotransferase Deficiency

Gamma-Aminobutyric Acid Transaminase Deficiency

Gamma Aminobutyric Acid Transaminase Deficiency

Gaba Transaminase Deficiency

Gamma-Amino Butyric Acid Transaminase Deficiency

4 Alpha Aminobutyrate Transaminase Deficiency

Abat

Gabat

Gamma Aminobutyrate Transaminase Deficiency
Enterocele

Vaginal Enterocele

Hernia

Hernias
Prolapse Of Female Genital Organ
Hyperpituitarism
Isolated Growth Hormone Deficiency, Type Ii

Ighd Ii

Isolated Growth Hormone Deficiency Type Ii

IGHD2

Growth Hormone Deficiency, Isolated, Type Ii

Congenital Ighd Type Ii

Congenital Isolated Gh Deficiency Type Ii

Congenital Isolated Growth Hormone Deficiency Type Ii

Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant

Growth Hormone Deficiency, Isolated, Autosomal Dominant

Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant

Autosomal Dominant Isolated Growth Hormone Deficiency

Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 2

Growth Hormone Deficiency, Isolated Autosomal Dominant

Growth Hormone Deficiency, Isolated, 2

Growth Hormone Deficiency Isolated Autosomal Dominant
Pituitary Gland Disease

Pituitary Diseases

Pituitary Dysfunction

Pituitary Disease

Pituitary Deficiency

Pituitary Disorders
Deficiency Anemia

Anemia

Deficiency Anemias

Anaemia
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05409 GH2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus GH2 MGD MGI:95707
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