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  2. GH2 - growth hormone 2 Gene

GH2 - growth hormone 2 Gene

Homo sapiens

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

Gene ID: 2689 | Gene type: protein coding

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