KCP

kielin cysteine rich BMP regulator, the group of Cysteine rich transmembrane BMP regulators

Basic information

Region (hg38): 7:128862042-128910719

Previous symbols: [ "CRIM2" ]

Links

ENSG00000135253NCBI:375616OMIM:609344HGNC:17585Uniprot:Q6ZWJ8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KCP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
95
clinvar
10
clinvar
105
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 95 10 0

Variants in KCP

This is a list of pathogenic ClinVar variants found in the KCP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
7-128862923-C-T not specified Uncertain significance (Sep 15, 2021)2249247
7-128862930-C-G not specified Uncertain significance (Jul 11, 2023)2610536
7-128865133-C-T not specified Uncertain significance (Mar 16, 2022)2278593
7-128865379-A-T not specified Uncertain significance (May 14, 2024)3329580
7-128865426-A-G not specified Uncertain significance (Jan 26, 2023)2479799
7-128865429-G-A not specified Uncertain significance (Nov 04, 2022)2210462
7-128865477-G-C not specified Uncertain significance (Dec 13, 2022)2334166
7-128865537-C-T not specified Uncertain significance (Mar 30, 2024)3329569
7-128865562-C-T not specified Uncertain significance (Oct 17, 2023)3131927
7-128877063-C-T not specified Uncertain significance (Oct 29, 2021)2257852
7-128877065-C-T not specified Likely benign (Sep 14, 2022)2395673
7-128877129-C-T not specified Uncertain significance (Feb 03, 2022)2367760
7-128877134-G-A not specified Uncertain significance (Apr 06, 2024)3287775
7-128877201-C-T not specified Uncertain significance (Mar 25, 2024)3287780
7-128877251-C-T not specified Uncertain significance (Mar 15, 2024)3287781
7-128877252-G-A not specified Uncertain significance (Nov 07, 2022)2210425
7-128877493-T-C not specified Uncertain significance (Apr 01, 2024)3287776
7-128877501-C-T not specified Uncertain significance (Feb 17, 2024)3113579
7-128877513-G-A not specified Uncertain significance (May 06, 2022)2212607
7-128877619-C-T not specified Uncertain significance (Nov 22, 2023)3113578
7-128877626-G-T not specified Uncertain significance (Jan 26, 2022)2273521
7-128877630-G-C not specified Uncertain significance (Mar 25, 2024)3287779
7-128877636-G-A not specified Uncertain significance (Aug 04, 2023)2616370
7-128877658-G-A not specified Uncertain significance (Dec 26, 2023)3113577
7-128877661-T-C not specified Uncertain significance (Mar 28, 2023)2526290

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

pHI
0.103
hipred
hipred_score
ghis

Mouse Genome Informatics

Gene name
Kcp
Phenotype
homeostasis/metabolism phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); renal/urinary system phenotype; skeleton phenotype;

Gene ontology

Biological process
Cellular component
extracellular region
Molecular function