KCP
protein-codingkielin cysteine rich BMP regulator, the group of Cysteine rich transmembrane BMP regulators
Gene summary
Predicted to be involved in positive regulation of BMP signaling pathway. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in obsolete extracellular space. Predicted to be active in extracellular region. [provided by Alliance of Genome Resources, Jun 2026]
- CRIM2
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~48.7 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 KCP variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001366122.1. 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 | 1 | ||||
| missense | 190 | 16 | 206 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 197 | 16 | 0 | 213 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001353051.1 | 40 | MANE Select | |
| Ensembl | ENSP00000479679.1 | 40 | MANE Select | |
| RefSeq | NP_955381.2 | 21 | Standard | |
| Ensembl | ENSP00000480867.1 | 34 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Cellular Component
- extracellular region
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Enhances bone morphogenetic protein (BMP) signaling in a paracrine manner. In contrast, it inhibits both the activin-A and TGFB1-mediated signaling pathways (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0976