• Gene id: 23271

Gene Summary

• Gene Symbol: CAMSAP2   Gene   UCSC   Ensembl
• Aliases: CAMSAP1L1
• Gene name: calmodulin regulated spectrin associated protein family member 2
• Alternate names: calmodulin-regulated spectrin-associated protein 2, calmodulin-regulated spectrin-associated protein 1-like protein 1,
• Gene location: 1q32.1 (200738904: 200860706)     Exons: 18     NC_000001.11
• OMIM: 613775

Protein Summary

• Protein general information: Q08AD1  
  • Name: Calmodulin regulated spectrin associated protein 2 (Calmodulin regulated spectrin associated protein 1 like protein 1)
  • Length: 1489  
  • Mass: 168089
• Sequence:

  MGDAADPREMRKTFIVPAIKPFDHYDFSRAKIACNLAWLVAKAFGTENVPEELQEPFYTDQYDQEHIKPPVVNLL
  LSAELYCRAGSLILKSDAAKPLLGHDAVIQALAQKGLYVTDQEKLVTERDLHKKPIQMSAHLAMIDTLMMAYTVE
  MVSIEKVIACAQQYSAFFQATDLPYDIEDAVMYWINKVNEHLKDIMEQEQKLKEHHTVEAPGGQKSPSKWFWKLV
  PARYRKEQTLLKQLPCIPLVENLLKDGTDGCALAALIHFYCPDVVRLEDICLKETMSLADSLYNLQLIQEFCQEY
  LNQCCHFTLEDMLYAASSIKSNYLVFMAELFWWFEVVKPSFVQPRVVRPQGAEPVKDMPSIPVLNAAKRNVLDSS
  SDFPSSGEGATFTQSHHHLPSRYSRPQAHSSASGGIRRSSSMSYVDGFIGTWPKEKRSSVHGVSFDISFDKEDSV
  QRSTPNRGITRSISNEGLTLNNSHVSKHIRKNLSFKPINGEEEAESIEEELNIDSHSDLKSCVPLNTNELNSNEN
  IHYKLPNGALQNRILLDEFGNQIETPSIEEALQIIHDTEKSPHTPQPDQIANGFFLHSQEMSILNSNIKLNQSSP
  DNVTDTKGALSPITDNTEVDTGIHVPSEDIPETMDEDSSLRDYTVSLDSDMDDASKFLQDYDIRTGNTREALSPC
  PSTVSTKSQPGSSASSSSGVKMTSFAEQKFRKLNHTDGKSSGSSSQKTTPEGSELNIPHVVAWAQIPEETGLPQG
  RDTTQLLASEMVHLRMKLEEKRRAIEAQKKKMEAAFTKQRQKMGRTAFLTVVKKKGDGISPLREEAAGAEDEKVY
  TDRAKEKESQKTDGQRSKSLADIKESMENPQAKWLKSPTTPIDPEKQWNLASPSEETLNEGEILEYTKSIEKLNS
  SLHFLQQEMQRLSLQQEMLMQMREQQSWVISPPQPSPQKQIRDFKPSKQAGLSSAIAPFSSDSPRPTHPSPQSSN
  RKSASFSVKSQRTPRPNELKITPLNRTLTPPRSVDSLPRLRRFSPSQVPIQTRSFVCFGDDGEPQLKESKPKEEV
  KKEELESKGTLEQRGHNPEEKEIKPFESTVSEVLSLPVTETVCLTPNEDQLNQPTEPPPKPVFPPTAPKNVNLIE
  VSLSDLKPPEKADVPVEKYDGESDKEQFDDDQKVCCGFFFKDDQKAENDMAMKRAALLEKRLRREKETQLRKQQL
  EAEMEHKKEETRRKTEEERQKKEDERARREFIRQEYMRRKQLKLMEDMDTVIKPRPQVVKQKKQRPKSIHRDHIE
  SPKTPIKGPPVSSLSLASLNTGDNESVHSGKRTPRSESVEGFLSPSRCGSRNGEKDWENASTTSSVASGTEYTGP
  KLYKEPSAKSNKHIIQNALAHCCLAGKVNEGQKKKILEEMEKSDANNFLILFRDSGCQFRSLYTYCPETEEINKL
  TGIGPKSITKKMIEGLYKYNSDRKQFSHIPAKTLSASVDAITIHSHLWQTKRPVTPKKLLPTKA

• Structural information:
  • Protein Domains: (222..33-)
    (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (1349..148-)
    (/note="CKK-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00841"-)
  • Interpro: IPR032940  IPR031372  IPR022613  IPR001715  IPR036872   IPR038209  IPR014797  IPR011033  
  • Prosite: PS50021 PS51508
  • STRING: ENSP00000236925
• Other Databases: GeneCards:  CAMSAP2  Malacards:  CAMSAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000226	microtubule cytoskeleton organization	IBA	biological process
GO:0007026	negative regulation of microtubule depolymerization	IBA	biological process
GO:0036449	microtubule minus-end	IBA	colocalizes with
GO:0051011	microtubule minus-end binding	IBA	molecular function
GO:0031122	cytoplasmic microtubule organization	IBA	biological process
GO:0005813	centrosome	IDA	colocalizes with
GO:0051011	microtubule minus-end binding	IDA	molecular function
GO:0061564	axon development	IDA	biological process
GO:0050773	regulation of dendrite development	IDA	biological process
GO:0005794	Golgi apparatus	IDA	colocalizes with
GO:0036449	microtubule minus-end	IDA	colocalizes with
GO:0000226	microtubule cytoskeleton organization	IDA	biological process
GO:0051011	microtubule minus-end binding	IDA	molecular function
GO:0000226	microtubule cytoskeleton organization	IDA	biological process
GO:0051011	microtubule minus-end binding	IDA	molecular function
GO:1903358	regulation of Golgi organization	IDA	biological process
GO:0031113	regulation of microtubule polymerization	IDA	biological process
GO:0000226	microtubule cytoskeleton organization	IDA	biological process
GO:0036449	microtubule minus-end	IDA	colocalizes with
GO:0051011	microtubule minus-end binding	IDA	molecular function
GO:0031113	regulation of microtubule polymerization	IDA	biological process
GO:0000226	microtubule cytoskeleton organization	IDA	biological process
GO:0036449	microtubule minus-end	IDA	colocalizes with
GO:0051011	microtubule minus-end binding	IDA	molecular function
GO:0033043	regulation of organelle organization	IMP	biological process
GO:0000226	microtubule cytoskeleton organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0008017	microtubule binding	IEA	molecular function
GO:0030507	spectrin binding	IEA	molecular function
GO:0031175	neuron projection development	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0061564	axon development	IEA	biological process
GO:0050773	regulation of dendrite development	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:1990752	microtubule end	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq