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 13-FEB-2019, entry version 171. 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; OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; OC Catarrhini; Hominidae; 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 RT recent 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; RA Cooke N.E., Ray J., Emery J.G., Liebhaber S.A.; RT "Two distinct species of human growth hormone-variant mRNA in the RT human placenta predict the expression of novel growth hormone RT 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., RA Carlsson L.M.S., 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 RT 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., RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., RA 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., RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., RA Nakai K., Yada T., Nakamura Y., Ohara O., 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., RA Maruyama Y., Matsuo K., Minami K., Mitsubori M., Mori M., RA Morishita R., Murase A., Nishikawa A., Nishikawa S., Okamoto T., RA Sakagami N., Sakamoto Y., Sasaki Y., Seki T., Sono S., Sugiyama A., RA Sumiya T., Takayama T., Takayama Y., Takeda H., Togashi T., Yahata K., RA Yamada H., Yanagisawa Y., Endo Y., Imamoto F., Kisu Y., Tanaka S., RA Isogai T., Imai J., Watanabe S., Nomura N.; RT "Human protein factory for converting the transcriptome into an in RT vitro-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., RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., RA 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 RT the 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., RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., RA 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 RT project: 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 RT hormone-V 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 CC role in stimulating body growth is to stimulate the liver and CC other tissues to secrete IGF-1. It stimulates both the CC differentiation and proliferation of myoblasts. It also stimulates CC amino acid uptake and protein synthesis in muscle and other CC tissues. CC -!- SUBUNIT: Monomer, dimer, trimer, tetramer and pentamer, disulfide- CC linked or non-covalently associated, in homopolymeric and CC heteropolymeric combinations. Can also form a complex either with CC GHBP or with the 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 Note=No experimental confirmation available.; CC Name=3; CC IsoId=P01242-3; Sequence=VSP_043206; CC Name=4; CC IsoId=P01242-4; Sequence=VSP_043480; CC Note=No experimental confirmation available.; CC -!- TISSUE SPECIFICITY: Expressed in the placenta. CC -!- SIMILARITY: Belongs to the somatotropin/prolactin family. CC {ECO:0000305}. CC ----------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC ----------------------------------------------------------------------- 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 UniGene; Hs.406754; -. DR UniGene; Hs.654390; -. DR ProteinModelPortal; P01242; -. DR SMR; P01242; -. DR BioGrid; 108956; 2. DR STRING; 9606.ENSP00000333157; -. DR iPTMnet; P01242; -. DR PhosphoSitePlus; P01242; -. DR BioMuta; GH2; -. DR PaxDb; P01242; -. DR PeptideAtlas; P01242; -. DR PRIDE; P01242; -. DR ProteomicsDB; 51357; -. DR ProteomicsDB; 51358; -. [P01242-2] DR ProteomicsDB; 51359; -. [P01242-3] DR ProteomicsDB; 51360; -. [P01242-4] DR DNASU; 2689; -. DR Ensembl; ENST00000332800; ENSP00000333157; ENSG00000136487. [P01242-2] DR Ensembl; ENST00000423893; ENSP00000409294; ENSG00000136487. [P01242-1] DR Ensembl; ENST00000449787; ENSP00000410618; ENSG00000136487. [P01242-3] DR Ensembl; ENST00000456543; ENSP00000394122; ENSG00000136487. [P01242-4] DR GeneID; 2689; -. DR KEGG; hsa:2689; -. DR UCSC; uc002jcl.3; human. [P01242-1] DR CTD; 2689; -. DR DisGeNET; 2689; -. DR EuPathDB; HostDB:ENSG00000136487.17; -. DR GeneCards; GH2; -. DR HGNC; HGNC:4262; GH2. DR HPA; HPA043715; -. DR MIM; 139240; gene. DR neXtProt; NX_P01242; -. DR OpenTargets; ENSG00000136487; -. DR PharmGKB; PA28672; -. DR GeneTree; ENSGT00730000111012; -. DR HOGENOM; HOG000068443; -. DR HOVERGEN; HBG011318; -. DR InParanoid; P01242; -. DR KO; K05438; -. DR OMA; TTMTHCS; -. DR OrthoDB; 1190548at2759; -. DR PhylomeDB; P01242; -. DR TreeFam; TF332592; -. DR Reactome; R-HSA-1170546; Prolactin receptor signaling. DR Reactome; R-HSA-982772; Growth hormone receptor signaling. DR SIGNOR; P01242; -. DR ChiTaRS; GH2; human. DR GeneWiki; Growth_hormone_2; -. DR GenomeRNAi; 2689; -. DR PRO; PR:P01242; -. DR Proteomes; UP000005640; Chromosome 17. DR Bgee; ENSG00000136487; Expressed in 38 organ(s), highest expression level in chorionic villus. 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:0060397; P:growth hormone receptor signaling pathway via JAK-STAT; TAS:Reactome. DR GO; GO:0045927; P:positive regulation of growth; IBA:GO_Central. DR GO; GO:0050731; P:positive regulation of peptidyl-tyrosine phosphorylation; 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 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; Complete proteome; Direct protein sequencing; KW Disulfide bond; Glycoprotein; Hormone; Phosphoprotein; Polymorphism; KW Reference proteome; Secreted; Signal. FT SIGNAL 1 26 {ECO:0000269|PubMed:2196278}. FT CHAIN 27 217 Growth hormone variant. FT /FTId=PRO_0000033061. FT MOD_RES 132 132 Phosphoserine. FT {ECO:0000250|UniProtKB:P01241}. FT MOD_RES 176 176 Phosphoserine. FT {ECO:0000250|UniProtKB:P01241}. FT CARBOHYD 166 166 N-linked (GlcNAc...) asparagine. FT {ECO:0000255}. FT DISULFID 79 191 {ECO:0000250}. FT DISULFID 208 215 {ECO:0000250}. FT VAR_SEQ 58 72 Missing (in isoform 3). FT {ECO:0000303|PubMed:19054851, FT ECO:0000303|PubMed:9709963}. FT /FTId=VSP_043206. FT VAR_SEQ 151 217 MWRLEDGSPRTGQIFNQSYSKFDTKSHNDDALLKNYGLLYC FT FRKDMDKVETFLRIVQCRSVEGSCGF -> IGWKMAAPGLG FT RSSISPTASLTQNRTTMTHCSRTTGCSTASGRTWTRSRHSC FT ASCSAALWRAAVASSCPGGIPVTPPQCLSWSWKVLLQCPPA FT LS (in isoform 4). FT {ECO:0000303|PubMed:9709963}. FT /FTId=VSP_043480. FT VAR_SEQ 153 217 RLEDGSPRTGQIFNQSYSKFDTKSHNDDALLKNYGLLYCFR FT KDMDKVETFLRIVQCRSVEGSCGF -> VRVAPGIPNPGAP FT LASRDWGEKHCCPLFSSQALTQENSPYSSFPLVNPPGLSLQ FT PGGEGGKWMNERGREQCPSAWPLLLFLHFAEAGRWQPPDWA FT DLQSVLQQV (in isoform 2). FT {ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:3379057}. FT /FTId=VSP_006203. FT VARIANT 90 90 R -> W (in dbSNP:rs5389). FT /FTId=VAR_014591. FT CONFLICT 44 44 Missing (in Ref. 12; AA sequence). FT {ECO:0000305}. FT CONFLICT 109 109 I -> T (in Ref. 2; AAB59547/AAB59548). FT {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 //