KEGG   Homo sapiens (human): 10518
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)
SSDB
Motif
Pfam: EF-hand_7 EF-hand_1 EF-hand_6 EF-hand_8 EF-hand_5
Other DBs
NCBI-GeneID: 10518
NCBI-ProteinID: NP_006374
OMIM: 605564
HGNC: 24579
Ensembl: ENSG00000136425
Pharos: O75838(Tbio)
UniProt: O75838
Position
15:complement(78104606..78131535)
AA seq 187 aa
MGNKQTIFTEEQLDNYQDCTFFNKKDILKLHSRFYELAPNLVPMDYRKSPIVHVPMSLII
QMPELRENPFKERIVAAFSEDGEGNLTFNDFVDMFSVLCESAPRELKANYAFKIYDFNTD
NFICKEDLELTLARLTKSELDEEEVVLVCDKVIEEADLDGDGKLGFADFEDMIAKAPDFL
STFHIRI
NT seq 564 nt   +upstreamnt  +downstreamnt
atggggaacaagcagaccatcttcaccgaagagcagctagacaactaccaggactgcacc
ttcttcaataagaaggacatcctcaagctgcattcgcgattctatgagctggcccccaac
ctcgtcccaatggactacaggaagagccccatcgtccacgtgcccatgagcctcatcatc
cagatgccagagctccgggagaatcccttcaaagaaaggatcgtggcggcgttttccgag
gatggtgaggggaacctcactttcaacgactttgtggacatgttttccgtgctctgcgag
tcggctccccgagagctcaaggcaaactatgccttcaagatctatgacttcaacactgac
aacttcatctgcaaggaggacctggagctgacgctggcccggctcactaagtcagagctg
gatgaggaggaggtggtgcttgtgtgcgacaaggtcattgaggaggctgacttggacggt
gacggcaagctgggctttgctgacttcgaggacatgattgccaaggcccctgacttcctc
agcactttccacatccggatctga

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