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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CIB2
calcium and integrin binding family member 2
Chromosome 15 · 15q25.1
NCBI Gene: 10518Ensembl: ENSG00000136425.14HGNC: HGNC:24579UniProt: H0YKC8
37PubMed Papers
22Diseases
0Drugs
26Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cellular response to ATPmagnesium ion bindingstereociliumprotein bindinghearing loss, autosomal recessivedeafnessUsher syndromeUsher syndrome type 1
✦AI Summary

CIB2 is a calcium- and integrin-binding protein functioning as an essential auxiliary component of the mechano-electrical transduction (MET) channel in auditory hair cells 1. As an EF-hand protein capable of binding Mg²⁺ and Ca²⁺ ions 1, CIB2 regulates intracellular calcium homeostasis and controls the distribution of transmembrane channel-like proteins TMC1 and TMC2, which are critical for MET channel function 2. CIB2 interacts with whirlin (WHRN) through its EF2 domain, playing a unique role in stereocilia staircase architecture maintenance in cochlear hair cells 3. The protein undergoes Ca²⁺-induced conformational changes when complexed with TMC1, affecting MET channel conductivity 2. Mutations in CIB2 cause autosomal recessive non-syndromic hearing loss (DFNB48) and Usher syndrome type 1J, characterized by bilateral, early-onset, moderate-to-profound hearing impairment 45. CIB2 is among the five most common genes associated with hearing loss in consanguineous Pakistani families 6. Beyond auditory function, CIB2 participates in integrin signaling, photoreceptor cell maintenance, and skeletal muscle physiology, suggesting functional plasticity 17. While clinically significant for hearing preservation, comprehensive understanding of CIB2's biochemical mechanisms across tissues remains incomplete 1.

Sources cited
1
CIB2 is an EF-hand protein binding Ca²⁺ and Mg²⁺, essential for MET machinery in cochlear hair cells with proposed roles in integrin signaling and autophagy
PMID: 35408910
2
TMC1-CIB2 complex undergoes Ca²⁺-induced conformational changes affecting MET channel conductivity
PMID: 39889697
3
CIB2 EF2 domain binds WHRN HHD2 region and plays unique roles in stereocilia staircase architecture independent of WHRN function
PMID: 40083274
4
CIB2 mutations cause DFNB48 (non-syndromic deafness) and Usher syndrome type 1J with bilateral early-onset hearing loss
PMID: 27771768
5
CIB2 is one of 10 known causative genes for Usher syndrome, a disease associating sensorineural hearing loss and retinitis pigmentosa
PMID: 25404053
6
CIB2 is among the five most common genes associated with autosomal recessive hearing loss in Pakistani consanguineous families
PMID: 30303587
7
CIB2 identified as one of 15 common genes correlated with both sarcopenia and type 2 diabetes mellitus in transcriptomic analysis
PMID: 35271662
Disease Associationsⓘ22
hearing loss, autosomal recessiveOpen Targets
0.71Strong
deafnessOpen Targets
0.67Moderate
Usher syndromeOpen Targets
0.66Moderate
Usher syndrome type 1Open Targets
0.66Moderate
neurodegenerative diseaseOpen Targets
0.43Moderate
hearing lossOpen Targets
0.37Weak
nonsyndromic deafnessOpen Targets
0.37Weak
Non-syndromic genetic deafnessOpen Targets
0.37Weak
nonsyndromic genetic hearing lossOpen Targets
0.37Weak
Hearing impairmentOpen Targets
0.34Weak
Rare genetic deafnessOpen Targets
0.34Weak
Retinal dystrophyOpen Targets
0.31Weak
placenta praeviaOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
lung cancerOpen Targets
0.08Suggestive
hearing loss, autosomal dominant 87Open Targets
0.06Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.06Suggestive
hearing loss, autosomal dominant 80Open Targets
0.05Suggestive
Deafness, autosomal recessive, 48UniProt
Usher syndrome 1JUniProt
Pathogenic Variants26
NM_006383.4(CIB2):c.300_309del (p.Glu100fs)Pathogenic
Rare genetic deafness|not provided|Usher syndrome type 1J;Autosomal recessive nonsyndromic hearing loss 48
★★☆☆2025→ Residue 100
NM_006383.4(CIB2):c.97C>T (p.Arg33Ter)Pathogenic
not provided|Usher syndrome
★★☆☆2025→ Residue 33
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp)Pathogenic
Hearing impairment|not provided|Autosomal recessive nonsyndromic hearing loss 48;Usher syndrome type 1J|Retinal dystrophy|Malignant tumor of esophagus
★★☆☆2025→ Residue 66
NM_006383.4(CIB2):c.280_281del (p.Met94fs)Pathogenic
not provided
★☆☆☆2026→ Residue 94
NM_006383.4(CIB2):c.34C>T (p.Gln12Ter)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 48
★☆☆☆2025→ Residue 12
NM_006383.4(CIB2):c.310C>T (p.Arg104Ter)Pathogenic
not provided
★☆☆☆2025→ Residue 104
NM_006383.4(CIB2):c.542+1G>APathogenic
not provided
★☆☆☆2025
NM_006383.4(CIB2):c.175del (p.Ile59fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 48
★☆☆☆2025→ Residue 59
NM_006383.4(CIB2):c.383_384insTA (p.Glu129fs)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 48
★☆☆☆2025→ Residue 129
NM_006383.4(CIB2):c.531del (p.Asp178fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 48
★☆☆☆2025→ Residue 178
NM_006383.4(CIB2):c.530del (p.Pro177fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 48
★☆☆☆2025→ Residue 177
NM_006383.4(CIB2):c.384_385insT (p.Glu129Ter)Pathogenic
Autosomal recessive nonsyndromic hearing loss 48
★☆☆☆2025→ Residue 129
NM_006383.4(CIB2):c.375_381del (p.Lys125fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 48
★☆☆☆2025→ Residue 125
NM_006383.4(CIB2):c.286del (p.Ser96fs)Pathogenic
Autosomal recessive nonsyndromic hearing loss 48
★☆☆☆2025→ Residue 96
NM_006383.4(CIB2):c.385G>T (p.Glu129Ter)Pathogenic
not provided
★☆☆☆2024→ Residue 129
NM_006383.4(CIB2):c.199-125G>ALikely pathogenic
CIB2-related disorder
★☆☆☆2023
NM_006383.4(CIB2):c.301_311del (p.Ser101fs)Pathogenic
not provided
★☆☆☆2022→ Residue 101
NM_006383.4(CIB2):c.347-2A>CLikely pathogenic
not provided
★☆☆☆2022
NM_006383.4(CIB2):c.40_47del (p.Asp14fs)Pathogenic
not provided
★☆☆☆2022→ Residue 14
NM_006383.4(CIB2):c.272T>C (p.Phe91Ser)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 48|Hearing loss, autosomal recessive|Usher syndrome type 1J;Autosomal recessive nonsyndromic hearing loss 48
★☆☆☆2022→ Residue 91
View on ClinVar ↗
Related Genes
CDH23Protein interaction100%PCDH15Protein interaction99%ADGRV1Protein interaction99%WHRNProtein interaction95%TMIEProtein interaction95%PDZD7Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Heart
58%
Ovary
34%
Bone Marrow
17%
Lung
12%
Liver
5%
Gene Interaction Network
Click a node to explore
CIB2CDH23PCDH15ADGRV1WHRNTMIEPDZD7
PROTEIN STRUCTURE
Preparing viewer…
PDB8XOQ · 2.41 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.27LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.60–1.27]
RankingsWhere CIB2 stands among ~20K protein-coding genes
  • #10,604of 20,598
    Most Researched37
  • #1,951of 5,498
    Most Pathogenic Variants26
  • #13,430of 17,882
    Most Constrained (LOEUF)1.27
Genes detectedCIB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
PMID: 30303587
Hum Mutat · 2019
1.00
2
Identification of the shared gene signatures and pathways between sarcopenia and type 2 diabetes mellitus.
PMID: 35271662
PLoS One · 2022
0.90
3
Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
PMID: 25404053
Orphanet J Rare Dis · 2014
0.80
4
Calcium- and Integrin-Binding Protein 2 (CIB2) in Physiology and Disease: Bright and Dark Sides.
PMID: 35408910
Int J Mol Sci · 2022
0.70
5
Advances in genetic hearing loss: CIB2 gene.
PMID: 27771768
Eur Arch Otorhinolaryngol · 2017
0.60