No CSI details found for gene ID: 2692

Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

Genular Protein ID: 1422532056

Symbol: GHRHR_HUMAN

Name: Growth hormone-releasing hormone receptor

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1333056

Title: Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone.

PubMed ID: 1333056

DOI: 10.1210/mend.6.10.1333056

PubMed ID: 7680413

Title: Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone.

PubMed ID: 7680413

DOI: 10.1210/mend.7.1.7680413

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 8528260

Title: Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.

PubMed ID: 8528260

DOI: 10.1038/ng0196-88

PubMed ID: 9467553

Title: Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

PubMed ID: 9467553

DOI: 10.1210/jcem.83.2.4528

PubMed ID: 11232012

Title: Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB.

PubMed ID: 11232012

DOI: 10.1210/jcem.86.1.7156

PubMed ID: 10084571

Title: Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

PubMed ID: 10084571

DOI: 10.1210/jcem.84.3.5599

PubMed ID: 12534354

Title: A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.

PubMed ID: 12534354

DOI: 10.1530/eje.0.1480025

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 423
  • Mass: 47402
  • Checksum: C9C5E2E7D6649E06
  • Sequence:
  • MDRRMWGAHV FCVLSPLPTV LGHMHPECDF ITQLREDESA CLQAAEEMPN TTLGCPATWD 
    GLLCWPTAGS GEWVTLPCPD FFSHFSSESG AVKRDCTITG WSEPFPPYPV ACPVPLELLA 
    EEESYFSTVK IIYTVGHSIS IVALFVAITI LVALRRLHCP RNYVHTQLFT TFILKAGAVF 
    LKDAALFHSD DTDHCSFSTV LCKVSVAASH FATMTNFSWL LAEAVYLNCL LASTSPSSRR 
    AFWWLVLAGW GLPVLFTGTW VSCKLAFEDI ACWDLDDTSP YWWIIKGPIV LSVGVNFGLF 
    LNIIRILVRK LEPAQGSLHT QSQYWRLSKS TLFLIPLFGI HYIIFNFLPD NAGLGIRLPL 
    ELGLGSFQGF IVAILYCFLN QEVRTEISRK WHGHDPELLP AWRTRAKWTT PSRSAAKVLT 
    SMC
 
                
                    {
    "geneID": 2692,
    "tax": {
        "id": 9606,
        "name": [
            {
                "name": "Homo sapiens Linnaeus 1758"
            },
            {
                "name": "Homo sapiens",
                "type": 0
            },
            {
                "name": "human",
                "type": 4
            }
        ]
    },
    "accession": {
        "gene": [
            "CP068271.2"
        ]
    },
    "genePos": {
        "start": 4933,
        "end": 20508
    },
    "orientation": true,
    "symbol": "GHRHR",
    "created": {
        "$date": {
            "$numberLong": "1738333348830"
        }
    },
    "crossReference": {
        "enseGeneID": "ENSG00000106128",
        "enseRnaID": [
            "ENST00000326139.7"
        ],
        "enseProtID": [
            "ENSP00000320180.2"
        ]
    },
    "chrom": {
        "pos": "7",
        "type": 1,
        "loc": "7p14.3"
    },
    "desc": "growth hormone releasing hormone receptor",
    "geneType": 5,
    "mim": [
        {
            "id": 139191,
            "relation": 0
        }
    ],
    "ontology": [
        {
            "id": "R-HSA-162582",
            "term": "Signal Transduction",
            "cat": 10
        },
        {
            "id": "R-HSA-372790",
            "term": "Signaling by GPCR",
            "cat": 11
        },
        {
            "id": "R-HSA-388396",
            "term": "GPCR downstream signalling",
            "cat": 12
        },
        {
            "id": "R-HSA-500792",
            "term": "GPCR ligand binding",
            "cat": 12
        },
        {
            "id": "R-HSA-373080",
            "term": "Class B\/2 (Secretin family receptors)",
            "cat": 13
        },
        {
            "id": "R-HSA-418555",
            "term": "G alpha (s) signalling events",
            "cat": 13
        },
        {
            "id": "R-HSA-420092",
            "term": "Glucagon-type ligand receptors",
            "cat": 14
        },
        {
            "id": "GO:0004930",
            "term": "G protein-coupled receptor activity",
            "pubMed": [
                7680413
            ],
            "cat": 0
        },
        {
            "id": "GO:0005515",
            "term": "protein binding",
            "pubMed": [
                1333056,
                7680413
            ],
            "cat": 0
        },
        {
            "id": "GO:0008528",
            "term": "G protein-coupled peptide receptor activity",
            "cat": 0
        },
        {
            "id": "GO:0016520",
            "term": "growth hormone-releasing hormone receptor activity",
            "cat": 0
        },
        {
            "id": "GO:0016520",
            "term": "growth hormone-releasing hormone receptor activity",
            "pubMed": [
                7680413
            ],
            "cat": 0
        },
        {
            "id": "GO:0017046",
            "term": "peptide hormone binding",
            "cat": 0
        },
        {
            "id": "GO:0017046",
            "term": "peptide hormone binding",
            "pubMed": [
                7680413
            ],
            "cat": 0
        },
        {
            "id": "GO:0019838",
            "term": "growth factor binding",
            "cat": 0
        },
        {
            "id": "GO:0019838",
            "term": "growth factor binding",
            "pubMed": [
                7680413
            ],
            "cat": 0
        },
        {
            "id": "GO:0007166",
            "term": "cell surface receptor signaling pathway",
            "cat": 1
        },
        {
            "id": "GO:0007189",
            "term": "adenylate cyclase-activating G protein-coupled receptor signaling pathway",
            "cat": 1
        },
        {
            "id": "GO:0007189",
            "term": "adenylate cyclase-activating G protein-coupled receptor signaling pathway",
            "pubMed": [
                1333056,
                7680413
            ],
            "cat": 1
        },
        {
            "id": "GO:0007595",
            "term": "lactation",
            "cat": 1
        },
        {
            "id": "GO:0008284",
            "term": "positive regulation of cell population proliferation",
            "cat": 1
        },
        {
            "id": "GO:0008284",
            "term": "positive regulation of cell population proliferation",
            "pubMed": [
                12867592
            ],
            "cat": 1
        },
        {
            "id": "GO:0008340",
            "term": "determination of adult lifespan",
            "cat": 1
        },
        {
            "id": "GO:0030252",
            "term": "growth hormone secretion",
            "cat": 1
        },
        {
            "id": "GO:0032868",
            "term": "response to insulin",
            "pubMed": [
                17356054
            ],
            "cat": 1
        },
        {
            "id": "GO:0032869",
            "term": "cellular response to insulin stimulus",
            "cat": 1
        },
        {
            "id": "GO:0033143",
            "term": "regulation of intracellular steroid hormone receptor signaling pathway",
            "cat": 1
        },
        {
            "id": "GO:0040018",
            "term": "positive regulation of multicellular organism growth",
            "pubMed": [
                8528260
            ],
            "cat": 1
        },
        {
            "id": "GO:0042445",
            "term": "hormone metabolic process",
            "cat": 1
        },
        {
            "id": "GO:0043568",
            "term": "positive regulation of insulin-like growth factor receptor signaling pathway",
            "pubMed": [
                11773624
            ],
            "cat": 1
        },
        {
            "id": "GO:0043627",
            "term": "response to estrogen",
            "pubMed": [
                9482665
            ],
            "cat": 1
        },
        {
            "id": "GO:0048469",
            "term": "cell maturation",
            "cat": 1
        },
        {
            "id": "GO:0048609",
            "term": "multicellular organismal reproductive process",
            "pubMed": [
                15944917
            ],
            "cat": 1
        },
        {
            "id": "GO:0051246",
            "term": "regulation of protein metabolic process",
            "cat": 1
        },
        {
            "id": "GO:0051384",
            "term": "response to glucocorticoid",
            "pubMed": [
                9482665
            ],
            "cat": 1
        },
        {
            "id": "GO:0051649",
            "term": "establishment of localization in cell",
            "cat": 1
        },
        {
            "id": "GO:0060124",
            "term": "positive regulation of growth hormone secretion",
            "pubMed": [
                11773624
            ],
            "cat": 1
        },
        {
            "id": "GO:0060133",
            "term": "somatotropin secreting cell development",
            "cat": 1
        },
        {
            "id": "GO:0005637",
            "term": "nuclear inner membrane",
            "pubMed": [
                10461027
            ],
            "cat": 2
        },
        {
            "id": "GO:0005640",
            "term": "nuclear outer membrane",
            "pubMed": [
                10461027
            ],
            "cat": 2
        },
        {
            "id": "GO:0005737",
            "term": "cytoplasm",
            "pubMed": [
                10461027
            ],
            "cat": 2
        },
        {
            "id": "GO:0005886",
            "term": "plasma membrane",
            "cat": 2
        },
        {
            "id": "GO:0005886",
            "term": "plasma membrane",
            "pubMed": [
                10461027
            ],
            "cat": 2
        },
        {
            "id": "GO:0009986",
            "term": "cell surface",
            "pubMed": [
                1333056
            ],
            "cat": 2
        },
        {
            "id": "GO:0016020",
            "term": "membrane",
            "pubMed": [
                1333056
            ],
            "cat": 2
        },
        {
            "id": "GO:0016363",
            "term": "nuclear matrix",
            "pubMed": [
                10461027
            ],
            "cat": 2
        },
        {
            "id": "GO:0030141",
            "term": "secretory granule",
            "pubMed": [
                10461027
            ],
            "cat": 2
        }
    ],
    "protein": [
        {
            "symbol": "GHRHR_HUMAN",
            "name": "Growth hormone-releasing hormone receptor",
            "accession": [
                "Q02643",
                "Q99863"
            ],
            "databaseIDs": {
                "NCBI Taxonomy": [
                    "9606"
                ],
                "MIM": [
                    "618157",
                    "139191",
                    "618157"
                ],
                "EMBL": [
                    "L01406",
                    "L09237",
                    "AB065701",
                    "AY557192",
                    "AC005155",
                    "U42225",
                    "U42222",
                    "U42223",
                    "U42224"
                ],
                "CCDS": [
                    "CCDS5432.1"
                ],
                "PIR": [
                    "A45363"
                ],
                "RefSeq": [
                    "NP_000814.2"
                ],
                "PDB": [
                    "2XDG",
                    "7CZ5"
                ],
                "PDBsum": [
                    "2XDG",
                    "7CZ5"
                ],
                "AlphaFoldDB": [
                    "Q02643"
                ],
                "EMDB": [
                    "EMD-30505"
                ],
                "SMR": [
                    "Q02643"
                ],
                "BioGRID": [
                    "108959"
                ],
                "STRING": [
                    "9606.ENSP00000320180"
                ],
                "BindingDB": [
                    "Q02643"
                ],
                "ChEMBL": [
                    "CHEMBL2032"
                ],
                "DrugBank": [
                    "DB00010",
                    "DB08869"
                ],
                "DrugCentral": [
                    "Q02643"
                ],
                "GuidetoPHARMACOLOGY": [
                    "247"
                ],
                "TCDB": [
                    "9.A.14.4.7"
                ],
                "GlyCosmos": [
                    "Q02643"
                ],
                "GlyGen": [
                    "Q02643"
                ],
                "PhosphoSitePlus": [
                    "Q02643"
                ],
                "BioMuta": [
                    "GHRHR"
                ],
                "DMDM": [
                    "3041685"
                ],
                "PaxDb": [
                    "9606-ENSP00000320180"
                ],
                "PeptideAtlas": [
                    "Q02643"
                ],
                "Antibodypedia": [
                    "3360"
                ],
                "DNASU": [
                    "2692"
                ],
                "Ensembl": [
                    "ENST00000326139.7"
                ],
                "KEGG": [
                    "hsa:2692"
                ],
                "MANE-Select": [
                    "ENST00000326139.7"
                ],
                "UCSC": [
                    "uc003tbx.4"
                ],
                "AGR": [
                    "HGNC:4266"
                ],
                "CTD": [
                    "2692"
                ],
                "DisGeNET": [
                    "2692"
                ],
                "GeneCards": [
                    "GHRHR"
                ],
                "HGNC": [
                    "HGNC:4266"
                ],
                "HPA": [
                    "ENSG00000106128"
                ],
                "MalaCards": [
                    "GHRHR"
                ],
                "neXtProt": [
                    "NX_Q02643"
                ],
                "OpenTargets": [
                    "ENSG00000106128"
                ],
                "Orphanet": [
                    "231671"
                ],
                "PharmGKB": [
                    "PA28676"
                ],
                "VEuPathDB": [
                    "HostDB:ENSG00000106128"
                ],
                "eggNOG": [
                    "KOG4564"
                ],
                "GeneTree": [
                    "ENSGT00940000159858"
                ],
                "InParanoid": [
                    "Q02643"
                ],
                "OMA": [
                    "RAWGACI"
                ],
                "OrthoDB": [
                    "5252868at2759"
                ],
                "PhylomeDB": [
                    "Q02643"
                ],
                "TreeFam": [
                    "TF315710"
                ],
                "PathwayCommons": [
                    "Q02643"
                ],
                "Reactome": [
                    "R-HSA-418555",
                    "R-HSA-420092"
                ],
                "SignaLink": [
                    "Q02643"
                ],
                "BioGRID-ORCS": [
                    "2692"
                ],
                "ChiTaRS": [
                    "GHRHR"
                ],
                "EvolutionaryTrace": [
                    "Q02643"
                ],
                "GeneWiki": [
                    "Growth-hormone-releasing_hormone_receptor",
                    "Growth_hormone-releasing_hormone_receptor"
                ],
                "GenomeRNAi": [
                    "2692"
                ],
                "Pharos": [
                    "Q02643"
                ],
                "PRO": [
                    "PR:Q02643"
                ],
                "Proteomes": [
                    "UP000005640"
                ],
                "RNAct": [
                    "Q02643"
                ],
                "Bgee": [
                    "ENSG00000106128"
                ],
                "ExpressionAtlas": [
                    "Q02643"
                ],
                "GO": [
                    "GO:0009986",
                    "GO:0005737",
                    "GO:0016020",
                    "GO:0005637",
                    "GO:0016363",
                    "GO:0005640",
                    "GO:0005886",
                    "GO:0030141",
                    "GO:0008528",
                    "GO:0004930",
                    "GO:0019838",
                    "GO:0016520",
                    "GO:0017046",
                    "GO:0007189",
                    "GO:0048469",
                    "GO:0007166",
                    "GO:0032869",
                    "GO:0008340",
                    "GO:0051649",
                    "GO:0030252",
                    "GO:0042445",
                    "GO:0007595",
                    "GO:0048609",
                    "GO:0008284",
                    "GO:0060124",
                    "GO:0043568",
                    "GO:0040018",
                    "GO:0033143",
                    "GO:0051246",
                    "GO:0043627",
                    "GO:0051384",
                    "GO:0032868",
                    "GO:0060133"
                ],
                "Gene3D": [
                    "4.10.1240.10",
                    "1.20.1070.10"
                ],
                "InterPro": [
                    "IPR050332",
                    "IPR017981",
                    "IPR036445",
                    "IPR001879",
                    "IPR003288",
                    "IPR000832",
                    "IPR017983"
                ],
                "PANTHER": [
                    "PTHR45620:SF14",
                    "PTHR45620"
                ],
                "Pfam": [
                    "PF00002",
                    "PF02793"
                ],
                "PRINTS": [
                    "PR01352",
                    "PR00249"
                ],
                "SMART": [
                    "SM00008"
                ],
                "SUPFAM": [
                    "SSF81321",
                    "SSF111418"
                ],
                "PROSITE": [
                    "PS00649",
                    "PS00650",
                    "PS50227",
                    "PS50261"
                ]
            },
            "citations": [
                {
                    "title": "Molecular cloning and expression of a pituitary-specific receptor for growth hormone-releasing hormone.",
                    "pubmedID": "1333056",
                    "doi": "10.1210\/mend.6.10.1333056"
                },
                {
                    "title": "Molecular cloning and expression of a human anterior pituitary receptor for growth hormone-releasing hormone.",
                    "pubmedID": "7680413",
                    "doi": "10.1210\/mend.7.1.7680413"
                },
                {
                    "title": "The DNA sequence of human chromosome 7.",
                    "pubmedID": "12853948",
                    "doi": "10.1038\/nature01782"
                },
                {
                    "title": "Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.",
                    "pubmedID": "8528260",
                    "doi": "10.1038\/ng0196-88"
                },
                {
                    "title": "Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.",
                    "pubmedID": "9467553",
                    "doi": "10.1210\/jcem.83.2.4528"
                },
                {
                    "title": "Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB.",
                    "pubmedID": "11232012",
                    "doi": "10.1210\/jcem.86.1.7156"
                },
                {
                    "title": "Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.",
                    "pubmedID": "10084571",
                    "doi": "10.1210\/jcem.84.3.5599"
                },
                {
                    "title": "A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.",
                    "pubmedID": "12534354",
                    "doi": "10.1530\/eje.0.1480025"
                },
                {
                    "title": "The consensus coding sequences of human breast and colorectal cancers.",
                    "pubmedID": "16959974",
                    "doi": "10.1126\/science.1133427"
                }
            ],
            "sequence": {
                "length": 423,
                "mass": 47402,
                "checksum": "C9C5E2E7D6649E06",
                "modified": {
                    "$date": {
                        "$numberLong": "900460800000"
                    }
                },
                "version": 2,
                "sequence": "MDRRMWGAHVFCVLSPLPTVLGHMHPECDFITQLREDESACLQAAEEMPNTTLGCPATWDGLLCWPTAGSGEWVTLPCPDFFSHFSSESGAVKRDCTITGWSEPFPPYPVACPVPLELLAEEESYFSTVKIIYTVGHSISIVALFVAITILVALRRLHCPRNYVHTQLFTTFILKAGAVFLKDAALFHSDDTDHCSFSTVLCKVSVAASHFATMTNFSWLLAEAVYLNCLLASTSPSSRRAFWWLVLAGWGLPVLFTGTWVSCKLAFEDIACWDLDDTSPYWWIIKGPIVLSVGVNFGLFLNIIRILVRKLEPAQGSLHTQSQYWRLSKSTLFLIPLFGIHYIIFNFLPDNAGLGIRLPLELGLGSFQGFIVAILYCFLNQEVRTEISRKWHGHDPELLPAWRTRAKWTTPSRSAAKVLTSMC"
            },
            "existence": 0,
            "relevance": 1,
            "proteinID": 1422532056
        }
    ],
    "singleCellExpressions": {
        "cellSignificanceIndex": []
    }
}