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Protein

Growth hormone variant

Gene

GH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.

GO - Molecular functioni

  • hormone activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hormone

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173797-MONOMER.
ReactomeiR-HSA-1170546. Prolactin receptor signaling.
R-HSA-982772. Growth hormone receptor signaling.

Names & Taxonomyi

Protein namesi
Recommended name:
Growth hormone variant
Short name:
GH-V
Alternative name(s):
Growth hormone 2
Placenta-specific growth hormone
Gene namesi
Name:GH2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:4262. GH2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Secreted

Pathology & Biotechi

Organism-specific databases

DisGeNETi2689.
OpenTargetsiENSG00000136487.
PharmGKBiPA28672.

Polymorphism and mutation databases

BioMutaiGH2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 261 PublicationAdd BLAST26
ChainiPRO_000003306127 – 217Growth hormone variantAdd BLAST191

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi79 ↔ 191By similarity
Modified residuei132PhosphoserineBy similarity1
Glycosylationi166N-linked (GlcNAc...)Sequence analysis1
Modified residuei176PhosphoserineBy similarity1
Disulfide bondi208 ↔ 215By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PeptideAtlasiP01242.
PRIDEiP01242.

PTM databases

iPTMnetiP01242.
PhosphoSitePlusiP01242.

Expressioni

Tissue specificityi

Expressed in the placenta.

Gene expression databases

BgeeiENSG00000136487.
CleanExiHS_GH2.
ExpressionAtlasiP01242. baseline and differential.
GenevisibleiP01242. HS.

Organism-specific databases

HPAiHPA043715.

Interactioni

Subunit structurei

Monomer, dimer, trimer, tetramer and pentamer, disulfide-linked or non-covalently associated, in homopolymeric and heteropolymeric combinations. Can also form a complex either with GHBP or with the alpha2-macroglobulin complex.

GO - Molecular functioni

  • hormone activity Source: ProtInc

Protein-protein interaction databases

BioGridi108956. 2 interactors.

Structurei

3D structure databases

ProteinModelPortaliP01242.
SMRiP01242.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the somatotropin/prolactin family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

GeneTreeiENSGT00730000111012.
HOGENOMiHOG000068443.
HOVERGENiHBG011318.
InParanoidiP01242.
KOiK05438.
OMAiRTTMTHC.
OrthoDBiEOG091G0HM9.
PhylomeDBiP01242.
TreeFamiTF332592.

Family and domain databases

Gene3Di1.20.1250.10. 1 hit.
InterProiIPR009079. 4_helix_cytokine-like_core.
IPR012351. 4_helix_cytokine_core.
IPR001400. Somatotropin.
IPR018116. Somatotropin_CS.
[Graphical view]
PANTHERiPTHR11417. PTHR11417. 1 hit.
PfamiPF00103. Hormone_1. 1 hit.
[Graphical view]
PRINTSiPR00836. SOMATOTROPIN.
SUPFAMiSSF47266. SSF47266. 1 hit.
PROSITEiPS00266. SOMATOTROPIN_1. 1 hit.
PS00338. SOMATOTROPIN_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P01242-1) [UniParc]FASTAAdd to basket
Also known as: GH-V1

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAAGSRTSLL LAFGLLCLSW LQEGSAFPTI PLSRLFDNAM LRARRLYQLA
60 70 80 90 100
YDTYQEFEEA YILKEQKYSF LQNPQTSLCF SESIPTPSNR VKTQQKSNLE
110 120 130 140 150
LLRISLLLIQ SWLEPVQLLR SVFANSLVYG ASDSNVYRHL KDLEEGIQTL
160 170 180 190 200
MWRLEDGSPR TGQIFNQSYS KFDTKSHNDD ALLKNYGLLY CFRKDMDKVE
210
TFLRIVQCRS VEGSCGF
Length:217
Mass (Da):25,000
Last modified:March 27, 2002 - v3
Checksum:i7B9324698E822F96
GO
Isoform 2 (identifier: P01242-2) [UniParc]FASTAAdd to basket
Also known as: GH-V2

The sequence of this isoform differs from the canonical sequence as follows:
     153-217: RLEDGSPRTG...CRSVEGSCGF → VRVAPGIPNP...ADLQSVLQQV

Note: No experimental confirmation available.
Show »
Length:256
Mass (Da):28,875
Checksum:i5D1C10B75BA49EC6
GO
Isoform 3 (identifier: P01242-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     58-72: Missing.

Show »
Length:202
Mass (Da):23,128
Checksum:i38B64D011A9197C6
GO
Isoform 4 (identifier: P01242-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     151-217: MWRLEDGSPR...CRSVEGSCGF → IGWKMAAPGL...VLLQCPPALS

Note: No experimental confirmation available.
Show »
Length:245
Mass (Da):27,101
Checksum:i14CC7F8CD75D91C8
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti44Missing AA sequence (PubMed:2196278).Curated1
Sequence conflicti109I → T in AAB59547 (PubMed:3379057).Curated1
Sequence conflicti109I → T in AAB59548 (PubMed:3379057).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01459190R → W.Corresponds to variant rs5389dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04320658 – 72Missing in isoform 3. 2 PublicationsAdd BLAST15
Alternative sequenceiVSP_043480151 – 217MWRLE…GSCGF → IGWKMAAPGLGRSSISPTAS LTQNRTTMTHCSRTTGCSTA SGRTWTRSRHSCASCSAALW RAAVASSCPGGIPVTPPQCL SWSWKVLLQCPPALS in isoform 4. 1 PublicationAdd BLAST67
Alternative sequenceiVSP_006203153 – 217RLEDG…GSCGF → VRVAPGIPNPGAPLASRDWG EKHCCPLFSSQALTQENSPY SSFPLVNPPGLSLQPGGEGG KWMNERGREQCPSAWPLLLF LHFAEAGRWQPPDWADLQSV LQQV in isoform 2. 2 PublicationsAdd BLAST65

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K00470 Genomic DNA. Translation: AAA98619.1.
J03756 mRNA. Translation: AAB59547.1.
J03756 mRNA. Translation: AAB59548.1.
M38451 mRNA. Translation: AAA35891.1.
J03071 Genomic DNA. Translation: AAA52552.1.
AF006060 mRNA. Translation: AAB71828.1.
AF006061 mRNA. Translation: AAB71829.1.
EU421715 Genomic DNA. Translation: ABZ88719.1.
EU421715 Genomic DNA. Translation: ABZ88720.1.
EU421715 Genomic DNA. Translation: ABZ88721.1.
EU421715 Genomic DNA. Translation: ABZ88722.1.
AK312194 mRNA. Translation: BAG35127.1.
AB451332 mRNA. Translation: BAG70146.1.
AB451477 mRNA. Translation: BAG70291.1.
AC040958 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94238.1.
CH471109 Genomic DNA. Translation: EAW94248.1.
CH471109 Genomic DNA. Translation: EAW94252.1.
CH471109 Genomic DNA. Translation: EAW94258.1.
BC020760 mRNA. Translation: AAH20760.1.
CCDSiCCDS11647.1. [P01242-1]
CCDS11648.1. [P01242-2]
CCDS45757.1. [P01242-4]
CCDS45758.1. [P01242-3]
PIRiA28072. STHUV2.
D32435. STHUV.
RefSeqiNP_002050.1. NM_002059.4. [P01242-1]
NP_072050.1. NM_022556.3. [P01242-3]
NP_072051.1. NM_022557.3. [P01242-2]
NP_072052.1. NM_022558.3. [P01242-4]
UniGeneiHs.406754.
Hs.654390.

Genome annotation databases

EnsembliENST00000332800; ENSP00000333157; ENSG00000136487. [P01242-2]
ENST00000423893; ENSP00000409294; ENSG00000136487. [P01242-1]
ENST00000449787; ENSP00000410618; ENSG00000136487. [P01242-3]
ENST00000456543; ENSP00000394122; ENSG00000136487. [P01242-4]
GeneIDi2689.
KEGGihsa:2689.
UCSCiuc002jcl.3. human. [P01242-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
K00470 Genomic DNA. Translation: AAA98619.1.
J03756 mRNA. Translation: AAB59547.1.
J03756 mRNA. Translation: AAB59548.1.
M38451 mRNA. Translation: AAA35891.1.
J03071 Genomic DNA. Translation: AAA52552.1.
AF006060 mRNA. Translation: AAB71828.1.
AF006061 mRNA. Translation: AAB71829.1.
EU421715 Genomic DNA. Translation: ABZ88719.1.
EU421715 Genomic DNA. Translation: ABZ88720.1.
EU421715 Genomic DNA. Translation: ABZ88721.1.
EU421715 Genomic DNA. Translation: ABZ88722.1.
AK312194 mRNA. Translation: BAG35127.1.
AB451332 mRNA. Translation: BAG70146.1.
AB451477 mRNA. Translation: BAG70291.1.
AC040958 Genomic DNA. No translation available.
CH471109 Genomic DNA. Translation: EAW94238.1.
CH471109 Genomic DNA. Translation: EAW94248.1.
CH471109 Genomic DNA. Translation: EAW94252.1.
CH471109 Genomic DNA. Translation: EAW94258.1.
BC020760 mRNA. Translation: AAH20760.1.
CCDSiCCDS11647.1. [P01242-1]
CCDS11648.1. [P01242-2]
CCDS45757.1. [P01242-4]
CCDS45758.1. [P01242-3]
PIRiA28072. STHUV2.
D32435. STHUV.
RefSeqiNP_002050.1. NM_002059.4. [P01242-1]
NP_072050.1. NM_022556.3. [P01242-3]
NP_072051.1. NM_022557.3. [P01242-2]
NP_072052.1. NM_022558.3. [P01242-4]
UniGeneiHs.406754.
Hs.654390.

3D structure databases

ProteinModelPortaliP01242.
SMRiP01242.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108956. 2 interactors.

PTM databases

iPTMnetiP01242.
PhosphoSitePlusiP01242.

Polymorphism and mutation databases

BioMutaiGH2.

Proteomic databases

PeptideAtlasiP01242.
PRIDEiP01242.

Protocols and materials databases

DNASUi2689.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000332800; ENSP00000333157; ENSG00000136487. [P01242-2]
ENST00000423893; ENSP00000409294; ENSG00000136487. [P01242-1]
ENST00000449787; ENSP00000410618; ENSG00000136487. [P01242-3]
ENST00000456543; ENSP00000394122; ENSG00000136487. [P01242-4]
GeneIDi2689.
KEGGihsa:2689.
UCSCiuc002jcl.3. human. [P01242-1]

Organism-specific databases

CTDi2689.
DisGeNETi2689.
GeneCardsiGH2.
HGNCiHGNC:4262. GH2.
HPAiHPA043715.
MIMi139240. gene.
neXtProtiNX_P01242.
OpenTargetsiENSG00000136487.
PharmGKBiPA28672.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00730000111012.
HOGENOMiHOG000068443.
HOVERGENiHBG011318.
InParanoidiP01242.
KOiK05438.
OMAiRTTMTHC.
OrthoDBiEOG091G0HM9.
PhylomeDBiP01242.
TreeFamiTF332592.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000173797-MONOMER.
ReactomeiR-HSA-1170546. Prolactin receptor signaling.
R-HSA-982772. Growth hormone receptor signaling.

Miscellaneous databases

ChiTaRSiGH2. human.
GeneWikiiGrowth_hormone_2.
GenomeRNAii2689.
PROiP01242.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136487.
CleanExiHS_GH2.
ExpressionAtlasiP01242. baseline and differential.
GenevisibleiP01242. HS.

Family and domain databases

Gene3Di1.20.1250.10. 1 hit.
InterProiIPR009079. 4_helix_cytokine-like_core.
IPR012351. 4_helix_cytokine_core.
IPR001400. Somatotropin.
IPR018116. Somatotropin_CS.
[Graphical view]
PANTHERiPTHR11417. PTHR11417. 1 hit.
PfamiPF00103. Hormone_1. 1 hit.
[Graphical view]
PRINTSiPR00836. SOMATOTROPIN.
SUPFAMiSSF47266. SSF47266. 1 hit.
PROSITEiPS00266. SOMATOTROPIN_1. 1 hit.
PS00338. SOMATOTROPIN_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSOM2_HUMAN
AccessioniPrimary (citable) accession number: P01242
Secondary accession number(s): B1A4H5
, B1A4H7, O14643, O14644, P09587
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: March 27, 2002
Last modified: November 2, 2016
This is version 159 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.