Homo sapiens (human): 10518
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Entry
10518 CDS
T01001
Symbol
CIB2, DFNB48, KIP2, USH1J
Name
(RefSeq) calcium and integrin binding family member 2
KO
K23837
calcium and integrin-binding protein 2
Organism
hsa
Homo sapiens (human)
Disease
H00605
Deafness, autosomal recessive
H00779
Usher syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
03037 Cilium and associated proteins [BR:
hsa03037
]
10518 (CIB2)
04990 Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
10518 (CIB2)
Cilium and associated proteins [BR:
hsa03037
]
Primary cilia and associated proteins
USH complex and associated proteins
10518 (CIB2)
Domain-containing proteins not elsewhere classified [BR:
hsa04990
]
EF-hand domain-containing proteins
Calcium binding proteins
10518 (CIB2)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
EF-hand_7
EF-hand_1
EF-hand_6
EF-hand_8
EF-hand_5
Motif
Other DBs
NCBI-GeneID:
10518
NCBI-ProteinID:
NP_006374
OMIM:
605564
HGNC:
24579
Ensembl:
ENSG00000136425
UniProt:
O75838
Structure
PDB
PDBj
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All DBs
Position
15:complement(78104606..78131535)
Genome browser
AA seq
187 aa
AA seq
DB search
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLII
QMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTD
NFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFL
STFHIRI
NT seq
564 nt
NT seq
+upstream
nt +downstream
nt
atggggaacaagcagaccatcttcaccgaagagcagctagacaactaccaggactgcacc
ttcttcaataagaaggacatcctcaagctgcattcgcgattctatgagctggcccccaac
ctcgtcccaatggactacaggaagagccccatcgtccacgtgcccatgagcctcatcatc
cagatgccagagctccgggagaatcccttcaaagaaaggatcgtggcggcgttttccgag
gatggtgaggggaacctcactttcaacgactttgtggacatgttttccgtgctctgcgag
tcggctccccgagagctcaaggcaaactatgccttcaagatctatgacttcaacactgac
aacttcatctgcaaggaggacctggagctgacgctggcccggctcactaagtcagagctg
gatgaggaggaggtggtgcttgtgtgcgacaaggtcattgaggaggctgacttggacggt
gacggcaagctgggctttgctgacttcgaggacatgattgccaaggcccctgacttcctc
agcactttccacatccggatctga
DBGET
integrated database retrieval system