GH2 - growth hormone 2 Gene

Also Known as GHL; GHV; GH-V; GHB2; hGH-V

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2689

About 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).

Summary

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 Products (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 Protein Structure

Hormone_1

Hormone_1: Somatotropin hormone family (9 - 215)

  • 0
  • 100
  • 200
  • 217 a.a.
Protein Preferred Names Protein Names

growth hormone variant

  • growth hormone B2

Related Diseases

Diseases Alias
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

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

Orthologs Information

Species Symbol Source ID
Mus musculus GH2 MGD MGI:95707