SOM2_HUMAN
ID SOM2_HUMAN Reviewed; 217 AA.
AC P01242; B1A4H5; B1A4H7; O14643; O14644; P09587;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT 27-MAR-2002, sequence version 3.
DT 03-AUG-2022, entry version 189.
DE RecName: Full=Growth hormone variant;
DE Short=GH-V;
DE AltName: Full=Growth hormone 2;
DE AltName: Full=Placenta-specific growth hormone;
DE Flags: Precursor;
GN Name=GH2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RX PubMed=7169009; DOI=10.1089/dna.1.1982.1.239;
RA Seeburg P.H.;
RT "The human growth hormone gene family: nucleotide sequences show recent
RT divergence and predict a new polypeptide hormone.";
RL DNA 1:239-249(1982).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Placenta;
RX PubMed=3379057; DOI=10.1016/s0021-9258(18)68407-8;
RA Cooke N.E., Ray J., Emery J.G., Liebhaber S.A.;
RT "Two distinct species of human growth hormone-variant mRNA in the human
RT placenta predict the expression of novel growth hormone proteins.";
RL J. Biol. Chem. 263:9001-9006(1988).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=2460050; DOI=10.3109/13813458809079626;
RA Igout A., Scippo M.L., Frankenne F., Hennen G.;
RT "Cloning and nucleotide sequence of placental hGH-V cDNA.";
RL Arch. Int. Physiol. Biochim. 96:63-67(1988).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
RX PubMed=2744760; DOI=10.1016/0888-7543(89)90271-1;
RA Chen E.Y., Liao Y.C., Smith D.H., Barrera-Saldana H.A., Gelinas R.E.,
RA Seeburg P.H.;
RT "The human growth hormone locus: nucleotide sequence, biology, and
RT evolution.";
RL Genomics 4:479-497(1989).
RN [5]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
RC TISSUE=Placenta;
RX PubMed=9709963; DOI=10.1210/jcem.83.8.5017;
RA Boguszewski C.L., Svensson P.A., Jansson T., Clark R., Carlsson L.M.S.,
RA Carlsson B.;
RT "Cloning of two novel growth hormone transcripts expressed in human
RT placenta.";
RL J. Clin. Endocrinol. Metab. 83:2878-2885(1998).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=18473352; DOI=10.1002/humu.20767;
RA Sedman L., Padhukasahasram B., Kelgo P., Laan M.;
RT "Complex signatures of locus-specific selective pressures and gene
RT conversion on human growth hormone/chorionic somatomammotropin genes.";
RL Hum. Mutat. 29:1181-1193(2008).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RX PubMed=19054851; DOI=10.1038/nmeth.1273;
RA Goshima N., Kawamura Y., Fukumoto A., Miura A., Honma R., Satoh R.,
RA Wakamatsu A., Yamamoto J., Kimura K., Nishikawa T., Andoh T., Iida Y.,
RA Ishikawa K., Ito E., Kagawa N., Kaminaga C., Kanehori K., Kawakami B.,
RA Kenmochi K., Kimura R., Kobayashi M., Kuroita T., Kuwayama H., Maruyama Y.,
RA Matsuo K., Minami K., Mitsubori M., Mori M., Morishita R., Murase A.,
RA Nishikawa A., Nishikawa S., Okamoto T., Sakagami N., Sakamoto Y.,
RA Sasaki Y., Seki T., Sono S., Sugiyama A., Sumiya T., Takayama T.,
RA Takayama Y., Takeda H., Togashi T., Yahata K., Yamada H., Yanagisawa Y.,
RA Endo Y., Imamoto F., Kisu Y., Tanaka S., Isogai T., Imai J., Watanabe S.,
RA Nomura N.;
RT "Human protein factory for converting the transcriptome into an in vitro-
RT expressed proteome.";
RL Nat. Methods 5:1011-1017(2008).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [12]
RP PROTEIN SEQUENCE OF 27-57.
RX PubMed=2196278; DOI=10.1210/jcem-71-1-15;
RA Frankenne F., Scippo M.L., Van Beeumen J., Igout A., Hennen G.;
RT "Identification of placental human growth hormone as the growth hormone-V
RT gene expression product.";
RL J. Clin. Endocrinol. Metab. 71:15-18(1990).
RN [13]
RP REVIEW.
RX PubMed=10393484; DOI=10.1159/000053128;
RA Baumann G.;
RT "Growth hormone heterogeneity in human pituitary and plasma.";
RL Horm. Res. 51 Suppl. 1:2-6(1999).
CC -!- FUNCTION: Plays an important role in growth control. Its major role in
CC stimulating body growth is to stimulate the liver and other tissues to
CC secrete IGF-1. It stimulates both the differentiation and proliferation
CC of myoblasts. It also stimulates amino acid uptake and protein
CC synthesis in muscle and other tissues.
CC -!- SUBUNIT: Monomer, dimer, trimer, tetramer and pentamer, disulfide-
CC linked or non-covalently associated, in homomeric and heteromeric
CC combinations. Can also form a complex either with GHBP or with the
CC alpha2-macroglobulin complex.
CC -!- SUBCELLULAR LOCATION: Secreted.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=GH-V1;
CC IsoId=P01242-1; Sequence=Displayed;
CC Name=2; Synonyms=GH-V2;
CC IsoId=P01242-2; Sequence=VSP_006203;
CC Name=3;
CC IsoId=P01242-3; Sequence=VSP_043206;
CC Name=4;
CC IsoId=P01242-4; Sequence=VSP_043480;
CC -!- TISSUE SPECIFICITY: Expressed in the placenta.
CC -!- SIMILARITY: Belongs to the somatotropin/prolactin family.
CC {ECO:0000305}.
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DR EMBL; K00470; AAA98619.1; -; Genomic_DNA.
DR EMBL; J03756; AAB59547.1; -; mRNA.
DR EMBL; J03756; AAB59548.1; -; mRNA.
DR EMBL; M38451; AAA35891.1; -; mRNA.
DR EMBL; J03071; AAA52552.1; -; Genomic_DNA.
DR EMBL; AF006060; AAB71828.1; -; mRNA.
DR EMBL; AF006061; AAB71829.1; -; mRNA.
DR EMBL; EU421715; ABZ88719.1; -; Genomic_DNA.
DR EMBL; EU421715; ABZ88720.1; -; Genomic_DNA.
DR EMBL; EU421715; ABZ88721.1; -; Genomic_DNA.
DR EMBL; EU421715; ABZ88722.1; -; Genomic_DNA.
DR EMBL; AK312194; BAG35127.1; -; mRNA.
DR EMBL; AB451332; BAG70146.1; -; mRNA.
DR EMBL; AB451477; BAG70291.1; -; mRNA.
DR EMBL; AC040958; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471109; EAW94238.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94248.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94252.1; -; Genomic_DNA.
DR EMBL; CH471109; EAW94258.1; -; Genomic_DNA.
DR EMBL; BC020760; AAH20760.1; -; mRNA.
DR CCDS; CCDS11647.1; -. [P01242-1]
DR CCDS; CCDS11648.1; -. [P01242-2]
DR CCDS; CCDS45757.1; -. [P01242-4]
DR CCDS; CCDS45758.1; -. [P01242-3]
DR PIR; A28072; STHUV2.
DR PIR; D32435; STHUV.
DR RefSeq; NP_002050.1; NM_002059.4. [P01242-1]
DR RefSeq; NP_072050.1; NM_022556.3. [P01242-3]
DR RefSeq; NP_072051.1; NM_022557.3. [P01242-2]
DR RefSeq; NP_072052.1; NM_022558.3. [P01242-4]
DR AlphaFoldDB; P01242; -.
DR SMR; P01242; -.
DR BioGRID; 108956; 4.
DR IntAct; P01242; 2.
DR GlyGen; P01242; 1 site.
DR iPTMnet; P01242; -.
DR PhosphoSitePlus; P01242; -.
DR BioMuta; GH2; -.
DR MassIVE; P01242; -.
DR PaxDb; P01242; -.
DR PeptideAtlas; P01242; -.
DR PRIDE; P01242; -.
DR ProteomicsDB; 51357; -. [P01242-1]
DR ProteomicsDB; 51358; -. [P01242-2]
DR ProteomicsDB; 51359; -. [P01242-3]
DR ProteomicsDB; 51360; -. [P01242-4]
DR Antibodypedia; 18989; 249 antibodies from 27 providers.
DR DNASU; 2689; -.
DR Ensembl; ENST00000332800.7; ENSP00000333157.7; ENSG00000136487.18. [P01242-2]
DR Ensembl; ENST00000423893.7; ENSP00000409294.2; ENSG00000136487.18. [P01242-1]
DR Ensembl; ENST00000449787.6; ENSP00000410618.2; ENSG00000136487.18. [P01242-3]
DR Ensembl; ENST00000456543.6; ENSP00000394122.2; ENSG00000136487.18. [P01242-4]
DR GeneID; 2689; -.
DR KEGG; hsa:2689; -.
DR MANE-Select; ENST00000423893.7; ENSP00000409294.2; NM_002059.5; NP_002050.1.
DR UCSC; uc002jcl.3; human. [P01242-1]
DR CTD; 2689; -.
DR DisGeNET; 2689; -.
DR GeneCards; GH2; -.
DR HGNC; HGNC:4262; GH2.
DR HPA; ENSG00000136487; Group enriched (pituitary gland, placenta).
DR MIM; 139240; gene.
DR neXtProt; NX_P01242; -.
DR OpenTargets; ENSG00000136487; -.
DR PharmGKB; PA28672; -.
DR VEuPathDB; HostDB:ENSG00000136487; -.
DR GeneTree; ENSGT00950000182818; -.
DR HOGENOM; CLU_1153874_0_0_1; -.
DR InParanoid; P01242; -.
DR OMA; FCFLETI; -.
DR OrthoDB; 1190548at2759; -.
DR PhylomeDB; P01242; -.
DR TreeFam; TF332592; -.
DR PathwayCommons; P01242; -.
DR Reactome; R-HSA-1170546; Prolactin receptor signaling.
DR Reactome; R-HSA-982772; Growth hormone receptor signaling.
DR SignaLink; P01242; -.
DR SIGNOR; P01242; -.
DR BioGRID-ORCS; 2689; 6 hits in 1061 CRISPR screens.
DR ChiTaRS; GH2; human.
DR GeneWiki; Growth_hormone_2; -.
DR GenomeRNAi; 2689; -.
DR Pharos; P01242; Tbio.
DR PRO; PR:P01242; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P01242; protein.
DR Bgee; ENSG00000136487; Expressed in placenta and 54 other tissues.
DR ExpressionAtlas; P01242; baseline and differential.
DR Genevisible; P01242; HS.
DR GO; GO:0031904; C:endosome lumen; TAS:Reactome.
DR GO; GO:0005576; C:extracellular region; TAS:Reactome.
DR GO; GO:0005615; C:extracellular space; IBA:GO_Central.
DR GO; GO:0008083; F:growth factor activity; IBA:GO_Central.
DR GO; GO:0005131; F:growth hormone receptor binding; IBA:GO_Central.
DR GO; GO:0005179; F:hormone activity; IBA:GO_Central.
DR GO; GO:0048513; P:animal organ development; IBA:GO_Central.
DR GO; GO:0060396; P:growth hormone receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0045927; P:positive regulation of growth; IBA:GO_Central.
DR GO; GO:0046427; P:positive regulation of receptor signaling pathway via JAK-STAT; IBA:GO_Central.
DR GO; GO:0042531; P:positive regulation of tyrosine phosphorylation of STAT protein; IBA:GO_Central.
DR GO; GO:0031667; P:response to nutrient levels; IBA:GO_Central.
DR Gene3D; 1.20.1250.10; -; 1.
DR InterPro; IPR009079; 4_helix_cytokine-like_core.
DR InterPro; IPR001400; Somatotropin/Prolactin.
DR InterPro; IPR018116; Somatotropin_CS.
DR PANTHER; PTHR11417; PTHR11417; 1.
DR Pfam; PF00103; Hormone_1; 1.
DR PRINTS; PR00836; SOMATOTROPIN.
DR SUPFAM; SSF47266; SSF47266; 1.
DR PROSITE; PS00266; SOMATOTROPIN_1; 1.
DR PROSITE; PS00338; SOMATOTROPIN_2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Direct protein sequencing; Disulfide bond;
KW Glycoprotein; Hormone; Phosphoprotein; Reference proteome; Secreted;
KW Signal.
FT SIGNAL 1..26
FT /evidence="ECO:0000269|PubMed:2196278"
FT CHAIN 27..217
FT /note="Growth hormone variant"
FT /id="PRO_0000033061"
FT MOD_RES 132
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P01241"
FT MOD_RES 176
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P01241"
FT CARBOHYD 166
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT DISULFID 79..191
FT /evidence="ECO:0000250"
FT DISULFID 208..215
FT /evidence="ECO:0000250"
FT VAR_SEQ 58..72
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:19054851,
FT ECO:0000303|PubMed:9709963"
FT /id="VSP_043206"
FT VAR_SEQ 151..217
FT /note="MWRLEDGSPRTGQIFNQSYSKFDTKSHNDDALLKNYGLLYCFRKDMDKVETF
FT LRIVQCRSVEGSCGF -> IGWKMAAPGLGRSSISPTASLTQNRTTMTHCSRTTGCSTA
FT SGRTWTRSRHSCASCSAALWRAAVASSCPGGIPVTPPQCLSWSWKVLLQCPPALS (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:9709963"
FT /id="VSP_043480"
FT VAR_SEQ 153..217
FT /note="RLEDGSPRTGQIFNQSYSKFDTKSHNDDALLKNYGLLYCFRKDMDKVETFLR
FT IVQCRSVEGSCGF -> VRVAPGIPNPGAPLASRDWGEKHCCPLFSSQALTQENSPYSS
FT FPLVNPPGLSLQPGGEGGKWMNERGREQCPSAWPLLLFLHFAEAGRWQPPDWADLQSVL
FT QQV (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:3379057"
FT /id="VSP_006203"
FT VARIANT 90
FT /note="R -> W (in dbSNP:rs5389)"
FT /id="VAR_014591"
FT CONFLICT 44
FT /note="Missing (in Ref. 12; AA sequence)"
FT /evidence="ECO:0000305"
FT CONFLICT 109
FT /note="I -> T (in Ref. 2; AAB59547/AAB59548)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 217 AA; 25000 MW; 7B9324698E822F96 CRC64;
MAAGSRTSLL LAFGLLCLSW LQEGSAFPTI PLSRLFDNAM LRARRLYQLA YDTYQEFEEA
YILKEQKYSF LQNPQTSLCF SESIPTPSNR VKTQQKSNLE LLRISLLLIQ SWLEPVQLLR
SVFANSLVYG ASDSNVYRHL KDLEEGIQTL MWRLEDGSPR TGQIFNQSYS KFDTKSHNDD
ALLKNYGLLY CFRKDMDKVE TFLRIVQCRS VEGSCGF
