GPSM2 Chromosome 1
G protein signaling modulator 2
Upload your DNA to see your personal genotypes for variants in GPSM2.
What This Gene Does
The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
Tetratricopeptide repeat domain containing
Locus Type
gene with protein product
Location
1p13.3
Ensembl
ENSG00000121957
Associated Conditions (23)
Chudley-McCullough syndrome
Inborn genetic diseases
GPSM2-related disorder
Melanoma
Acute myeloid leukemia
Hepatocellular carcinoma
Adrenocortical carcinoma
hereditary
Cervical cancer
Sarcoma
Thyroid cancer
nonmedullary
1
Colorectal cancer
Thymoma
Rare genetic deafness
Hearing loss
autosomal recessive
Breast-ovarian cancer
familial
+3 more conditions
Key Variants
RS140949805
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, Chudley-McCullough syndrome
Health Risk
RS141562079
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, Chudley-McCullough syndrome
Health Risk
RS142663817
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, Chudley-McCullough syndrome
Health Risk
RS145997327
Conflicting classifications of pathogenicity
Inborn genetic diseases, GPSM2-related disorder, Inborn genetic diseases
Health Risk
RS147906282
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, Inborn genetic diseases, Chudley-McCullough syndrome
Health Risk
RS184863735
Conflicting classifications of pathogenicity
GPSM2-related disorder, GPSM2-related disorder
Health Risk
RS189033496
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, GPSM2-related disorder, Chudley-McCullough syndrome
Health Risk
RS190381417
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, Chudley-McCullough syndrome
Health Risk
RS193138520
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, GPSM2-related disorder, Chudley-McCullough syndrome
Health Risk
RS199575734
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, Chudley-McCullough syndrome
Health Risk
RS201878481
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, Chudley-McCullough syndrome
Health Risk
RS377658968
Conflicting classifications of pathogenicity
Chudley-McCullough syndrome, Chudley-McCullough syndrome
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140949805 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS141562079 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS142663817 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS145997327 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, GPSM2-related disorder, Inborn genetic diseases |
| RS147906282 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Inborn genetic diseases, Chudley-McCullough syndrome |
| RS184863735 | Health Risk | Conflicting classifications of pathogenicity | GPSM2-related disorder, GPSM2-related disorder |
| RS189033496 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, GPSM2-related disorder, Chudley-McCullough syndrome |
| RS190381417 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS193138520 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, GPSM2-related disorder, Chudley-McCullough syndrome |
| RS199575734 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS201878481 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS377658968 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS377727537 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS61754640 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Melanoma, Acute myeloid leukemia |
| RS61758992 | Health Risk | Conflicting classifications of pathogenicity | GPSM2-related disorder, GPSM2-related disorder |
| RS745395767 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS775142959 | Health Risk | Conflicting classifications of pathogenicity | GPSM2-related disorder, GPSM2-related disorder |
| RS79730689 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, GPSM2-related disorder, Inborn genetic diseases |
| RS995472329 | Health Risk | Conflicting classifications of pathogenicity | Chudley-McCullough syndrome, Inborn genetic diseases, Chudley-McCullough syndrome |
| RS1553215684 | Health Risk | Likely pathogenic | — |
| RS1570936325 | Health Risk | Likely pathogenic | — |
| RS2101429459 | Health Risk | Likely pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS2101528079 | Health Risk | Likely pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS2101542489 | Health Risk | Likely pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS2524888761 | Health Risk | Likely pathogenic | GPSM2-related disorder, GPSM2-related disorder |
| RS2524902421 | Health Risk | Likely pathogenic | — |
| RS2524924265 | Health Risk | Likely pathogenic | — |
| RS727505300 | Health Risk | Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS758733242 | Health Risk | Likely pathogenic | — |
| RS773445398 | Health Risk | Likely pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS774168389 | Health Risk | Likely pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS957559316 | Health Risk | Likely pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS1060499797 | Health Risk | Pathogenic | Hearing loss, autosomal recessive, Chudley-McCullough syndrome |
| RS1553216524 | Health Risk | Pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS1557865780 | Health Risk | Pathogenic | — |
| RS267606854 | Health Risk | Pathogenic | Chudley-McCullough syndrome, Hearing loss, autosomal recessive |
| RS367682612 | Health Risk | Pathogenic | — |
| RS387907010 | Health Risk | Pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS750981446 | Health Risk | Pathogenic | — |
| RS762285081 | Health Risk | Pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS766556930 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS772372530 | Health Risk | Pathogenic | Rare genetic deafness, Chudley-McCullough syndrome, GPSM2-related disorder |
| RS1353848256 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS145191476 | Health Risk | Pathogenic/Likely pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS370907055 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Chudley-McCullough syndrome, GPSM2-related disorder |
| RS528069912 | Health Risk | Pathogenic/Likely pathogenic | Chudley-McCullough syndrome, Rare genetic deafness, GPSM2-related disorder |
| RS755804651 | Health Risk | Pathogenic/Likely pathogenic | Deafness, Hearing loss, autosomal recessive |
| RS761092578 | Health Risk | Pathogenic/Likely pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |
| RS773068151 | Health Risk | Pathogenic/Likely pathogenic | Rare genetic deafness, Rare genetic deafness |
| RS777695770 | Health Risk | Pathogenic/Likely pathogenic | Chudley-McCullough syndrome, Chudley-McCullough syndrome |