CALCB

protein-coding

calcitonin related polypeptide beta, the group of Neuropeptides

Gene summary

Enables hormone activity. Involved in calcitonin gene-related peptide receptor signaling pathway. Is active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

CALC2

MANE transcript

NM_000728.4

Inheritance

—

ClinVar variants

U:29B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.42

Max pathogenic AF

—

Genomic locus

chr11:14,904,997-15,082,342

External References & Databases

Ensembl (ENSG00000175868)

Transcript & Mutation Effects

hg38 • Region Span ~177.3 kb

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GenCC 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 CALCB variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 32

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000728.4. 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 clinvar		1
missense			29 clinvar	2 clinvar		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	29	3	0	32

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000728.4	RefSeq	NP_000719.1	3	MANE Select
ENST00000324229.11	Ensembl	ENSP00000346017.5	3	MANE Select
ENST00000523376.5	Ensembl	ENSP00000428882.1	4	Standard
ENST00000523376.6	Ensembl	ENSP00000428882.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signaling by GPCR
Signal Transduction
GPCR signaling-G alpha q
GPCR signaling-cholera toxin
GPCR signaling-pertussis toxin

Biological Process

cellular calcium ion homeostasis
signal transduction
G protein-coupled receptor signaling pathway
adenylate cyclase-activating G protein-coupled receptor signaling pathway
regulation of signaling receptor activity

Molecular Function

neuropeptide hormone activity
calcitonin receptor binding

Cellular Component

extracellular region
extracellular space
cell

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000533448
Coding exons: 3
Length: 177346
Individuals with no LoFs: 125734
Homozygous LoFs: 0
Heterozygous LoFs: 14
Defined: 125748
p: 0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0567	76	74.6	1.02	0.00000391	820
Missense (PolyPhen)		22	26.244	0.8383		304
Synonymous	-0.278	33	31.0	1.06	0.00000151	269
Loss of Function	1.18	2	4.80	0.417	2.03e-7	57

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.000044	0.000044	rare
South Asian	0.00020	0.00020	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: CGRP induces vasodilation. It dilates a variety of vessels including the coronary, cerebral and systemic vasculature. Its abundance in the CNS also points toward a neurotransmitter or neuromodulator role.;

Recessive Scores

pRec: 0.116

Intolerance Scores

LoFtool: 0.592
RVIS EVS: -0.14
RVIS percentile EVS: 42.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0874

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium