O75838 (CIB2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Calcium and integrin-binding family member 2

Alternative name(s):
Kinase-interacting protein 2
Short name=KIP 2

Gene names

Name:	CIB2
Synonyms:	KIP2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	187 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Critical for proper photorecetor cell maintenance and function. May play a role in calcium homeostasis and participate in calcium regulation in the mechanotransduction process By similarity.
Subcellular location	Photoreceptor inner segment By similarity. Note: Expressed in inner and outer segments of photoreceptor cells, as well as in the pigmented epithelium. Also observed in the inner and outer plexiform layers and in the ganglion cell layer By similarity.
Tissue specificity	Ubiquitous.
Involvement in disease	Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB48 patients have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3 Usher syndrome 1J (USH1J) [MIM:614869]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3
Sequence similarities	Contains 3 EF-hand domains.

Ontologies

Keywords
Disease	Deafness Disease mutation Non-syndromic deafness Retinitis pigmentosa Usher syndrome
Domain	Repeat
Ligand	Calcium Metal-binding
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	calcium ion homeostasis Inferred from sequence or structural similarity. Source: UniProtKB photoreceptor cell maintenance Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	photoreceptor inner segment Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	calcium ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 187	187	Calcium and integrin-binding family member 2		PRO_0000073534
Regions
	Domain	66 – 101	36	EF-hand 1
	Domain	103 – 138	36	EF-hand 2
	Domain	144 – 179	36	EF-hand 3
	Calcium binding	116 – 127	12	1 Potential
	Calcium binding	157 – 168	12	2 Potential
Natural variations
	Natural variant	64	1	E → D in USH1J. Ref.3		VAR_069086
	Natural variant	91	1	F → S in DFNB48. Ref.3		VAR_069087
	Natural variant	99	1	C → W in DFNB48. Ref.3		VAR_069088
	Natural variant	123	1	I → T in DFNB48. Ref.3		VAR_069089

Sequences

	Sequence		Length	Mass (Da)
	O75838 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: D51F6C25AD381BEF	FASTA	187	21,644
	10 20 30 40 50 60 MGNKQTIFTE EQLDNYQDCT FFNKKDILKL HSRFYELAPN LVPMDYRKSP IVHVPMSLII 70 80 90 100 110 120 QMPELRENPF KERIVAAFSE DGEGNLTFND FVDMFSVLCE SAPRELKANY AFKIYDFNTD 130 140 150 160 170 180 NFICKEDLEL TLARLTKSEL DEEEVVLVCD KVIEEADLDG DGKLGFADFE DMIAKAPDFL STFHIRI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Structure, expression profile and chromosomal location of an isolog of DNA-PKcs interacting protein (KIP) gene." Seki N., Hattori A., Hayashi A., Kozuma S., Ohira M., Hori T., Saito T. Biochim. Biophys. Acta 1444:143-147(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Fetal brain.
[2]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Brain.
[3]	"Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48." Riazuddin S., Belyantseva I.A., Giese A.P., Lee K., Indzhykulian A.A., Nandamuri S.P., Yousaf R., Sinha G.P., Lee S., Terrell D., Hegde R.S., Ali R.A., Anwar S., Andrade-Elizondo P.B., Sirmaci A., Parise L.V., Basit S., Wali A. , Ayub M., Ansar M., Ahmad W., Khan S.N., Akram J., Tekin M., Riazuddin S., Cook T., Buschbeck E.K., Frolenkov G.I., Leal S.M., Friedman T.B., Ahmed Z.M. Nat. Genet. 44:1265-1271(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DFNB48 SER-91; TRP-99 AND THR-123, VARIANT USH1J ASP-64.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB012955 mRNA. Translation: BAA33584.1. BC047381 mRNA. Translation: AAH47381.1.
IPI	IPI00027169.
RefSeq	NP_006374.1. NM_006383.3.
UniGene	Hs.129867.
3D structure databases
ProteinModelPortal	O75838.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000258930.
Proteomic databases
PaxDb	O75838.
PRIDE	O75838.
Protocols and materials databases
DNASU	10518.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000258930; ENSP00000258930; ENSG00000136425.
GeneID	10518.
KEGG	hsa:10518.
UCSC	uc002bdb.1. human.
Organism-specific databases
CTD	10518.
GeneCards	GC15M078396.
HGNC	HGNC:24579. CIB2.
HPA	HPA036697.
MIM	605564. gene. 609439. phenotype. 614869. phenotype.
neXtProt	NX_O75838.
PharmGKB	PA134927274.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5126.
HOVERGEN	HBG107344.
InParanoid	O75838.
OMA	DCKLPLA.
OrthoDB	EOG4F4SC2.
PhylomeDB	O75838.
Gene expression databases
ArrayExpress	O75838.
Bgee	O75838.
CleanEx	HS_CIB2.
Genevestigator	O75838.
GermOnline	ENSG00000136425. Homo sapiens.
Family and domain databases
Gene3D	1.10.238.10. 1 hit.
InterPro	IPR011992. EF-hand-like_dom. IPR018247. EF_Hand_1_Ca_BS. IPR002048. EF_hand_dom. [Graphical view]
Pfam	PF13499. EF_hand_5. 1 hit. [Graphical view]
SMART	SM00054. EFh. 2 hits. [Graphical view]
PROSITE	PS00018. EF_HAND_1. 2 hits. PS50222. EF_HAND_2. 3 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	10518.
NextBio	39888.
SOURCE	Search...

Entry information

Entry name

CIB2_HUMAN

Accession

Primary (citable) accession number: O75838

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 11, 2001
Last sequence update:	November 1, 1998
Last modified:	May 1, 2013
This is version 105 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.