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

ENSG00000135253 ∙ NCBI:375616 ∙ OMIM:609344 ∙ HGNC:17585 ∙ Uniprot:Q6ZWJ8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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	10		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)
7-128862930-C-G		not specified	Uncertain significance (Jul 11, 2023)
7-128862993-A-G		not specified	Uncertain significance (Sep 24, 2024)
7-128865133-C-T		not specified	Uncertain significance (Mar 16, 2022)
7-128865379-A-T		not specified	Uncertain significance (May 14, 2024)
7-128865426-A-G		not specified	Uncertain significance (Jan 26, 2023)
7-128865429-G-A		not specified	Uncertain significance (Nov 04, 2022)
7-128865477-G-C		not specified	Uncertain significance (Dec 13, 2022)
7-128865537-C-T		not specified	Uncertain significance (Mar 30, 2024)
7-128865562-C-T		not specified	Uncertain significance (Oct 17, 2023)
7-128865568-A-G		not specified	Uncertain significance (Aug 14, 2024)
7-128877063-C-T		not specified	Uncertain significance (Oct 29, 2021)
7-128877065-C-T		not specified	Likely benign (Sep 14, 2022)
7-128877066-G-A		not specified	Uncertain significance (Aug 11, 2024)
7-128877129-C-T		not specified	Uncertain significance (Jul 09, 2024)
7-128877134-G-A		not specified	Uncertain significance (Apr 06, 2024)
7-128877183-C-T		not specified	Uncertain significance (Oct 09, 2024)
7-128877201-C-T		not specified	Uncertain significance (Mar 25, 2024)
7-128877202-G-C		not specified	Uncertain significance (Oct 07, 2024)
7-128877251-C-T		not specified	Uncertain significance (Mar 15, 2024)
7-128877252-G-A		not specified	Uncertain significance (Nov 07, 2022)
7-128877493-T-C		not specified	Uncertain significance (Apr 01, 2024)
7-128877501-C-T		not specified	Uncertain significance (Feb 17, 2024)
7-128877513-G-A		not specified	Uncertain significance (May 06, 2022)
7-128877619-C-T		not specified	Uncertain significance (Nov 22, 2023)

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

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

• Cellular component: extracellular region