GRAMD2B
protein-codingGRAM domain containing 2B, the group of GRAM domain containing
Gene summary
Enables identical protein binding activity. Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Jul 2025]
- GRAMD3
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~136.4 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 GRAMD2B variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_023927.4. 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 | 1 | 5 | 6 | |||
| missense | 50 | 2 | 52 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 52 | 7 | 0 | 59 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_076416.2 | 14 | MANE Select | |
| Ensembl | ENSP00000285689.3 | 14 | MANE Select | |
| RefSeq | NP_001139791.1 | 14 | Standard | |
| RefSeq | NP_001139792.1 | 12 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Molecular Function
- protein binding
- identical protein binding
Cellular Component
- cytoplasmic microtubule
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000513040
- Coding exons
- 14
- Length
- 136363
- Individuals with no LoFs
- 125638
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 109
- Defined
- 125747
- p
- 0.000434
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.04 | 183 | 227 | 0.806 | 0.0000109 | 2920 |
| Missense (PolyPhen) | 49 | 62.656 | 0.78205 | 895 | ||
| Synonymous | 0.284 | 83 | 86.4 | 0.961 | 0.00000455 | 848 |
| Loss of Function | 0.989 | 21 | 26.5 | 0.793 | 0.00000127 | 328 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.000062 | 0.000062 | rare |
| Latino/Admixed American | 0.00053 | 0.00052 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00016 | 0.00016 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00067 | 0.00067 | rare |
| South Asian | 0.00036 | 0.00036 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
Recessive Scores
- pRec
- 0.0978
Intolerance Scores
- RVIS EVS
- -0.05
- RVIS percentile EVS
- 50.22
Essentials
- Essential (gene trap)
- N