SH2D7
protein-codingSH2 domain containing 7, the group of SH2 domain containing
Gene summary
Predicted to enable protein-macromolecule adaptor activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~26.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to SH2D7 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001101404.2. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 73 | 4 | 77 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 73 | 4 | 0 | 77 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001094874.1 | 6 | MANE Select | |
| Ensembl | ENSP00000327846.5 | 6 | MANE Select | |
| Ensembl | ENSP00000386676.2 | 4 | Standard | |
| Ensembl | ENSP00000807115.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000328828
- Coding exons
- 6
- Length
- 27102
- Individuals with no LoFs
- 124525
- Homozygous LoFs
- 1
- Heterozygous LoFs
- 106
- Defined
- 124632
- p
- 0.000429
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.102 | 243 | 248 | 0.982 | 0.0000135 | 2895 |
| Missense (PolyPhen) | 29 | 35.373 | 0.81984 | 441 | ||
| Synonymous | 0.405 | 92 | 97.1 | 0.948 | 0.00000506 | 914 |
| Loss of Function | 0.939 | 14 | 18.3 | 0.763 | 0.00000102 | 188 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00013 | 0.00013 | rare |
| Latino/Admixed American | 0.00016 | 0.00014 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0047 | 0.0047 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000038 | 0.000035 | rare |
| South Asian | 0.00028 | 0.00026 | rare |
| Other | 0.00066 | 0.00066 | rare |
dbNSFP Gene Annotations
Source:
Intolerance Scores
- LoFtool
- 0.625
- RVIS EVS
- 0.33
- RVIS percentile EVS
- 73.54
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.0216
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |