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Gene Model: Cpt2

NomenclatureGenomic Location
SymbolCpt2Chromosome1
NameCarnitine palmitoyltransferase 2Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates1: 9 Mbp

Molecular Function

Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.

Molecular Function Terms:

catalytic activity
   transferase activity
      transferase activity, transferring acyl groups
         transferase activity, transferring acyl groups other than amino-acyl groups
            acyltransferase activity

Human Disease Association

Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency (CPT2D) [MIM:255110, MIM:600649]; also known as CPT-II deficiency or CPT2 deficiency. CPT2D is an autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death.

Defects in CPT2 are the cause of carnitine palmitoyltransferase 2 deficiency, lethal neonatal (CPT2D-LN) [MIM:608836]; also known as lethal neonatal CPT-II deficiency. It is a lethal neonatal form of CPT2D. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity.

Predicted Transcript
     1 CTGTCCTCCTCGCCCTTCCGCGGAGCCCCCGCCGCCCGCCTCCCGCCTCTCCTCTCGGGG
    61 CCCCGGCGGAGGCACTACGGCCAGGAGACATCCTTTCCCCAGCACTTGCACCGCAGCCTC
   121 GTCCCCACCTTGCATTACCAAAAGAGCCTGCCCCGTTTGCCAATTCCAAAACTTGAAGAT
   181 ACAATTAGAAGATACTTGAATGCACAAAGACCTCTTCTAGATGATGACCAATTCAGGAAA
   241 ACTGAAGAACTTGCTGCCAAATTTGAGAAAGGAATTGGCCGAGAATTACATGAGCAGTTG
   301 ATTTCACAGGACAAGCAAAACAAACATACTAGTTATATTTCAGGTCCCTGGTTTGACATG
   361 TACCTAAGGGCACGTGAATCAGTTGTTTTGAACTTCAATCCTTTCATGGTTTTCAATGCT
   421 GACTCCAAAGTGGATTATAACAATCAGCTCACAAGGGCAACTAACATGACTGTTTCTGCT
   481 TTGCGATTCTTGAAGACTCTCAGGACTAACATTTTAGAACCAGAGGTTTTTCACCTGAAC
   541 CCAGCCAAAAGTGACACTCAAGCTTTTAAAAAGTTCGTTCGTTTTGTGCCTCCTTCTCTG
   601 TCATGGTTTTGTGCCTACATGGTGAATGCCTACCCACTAGACATGTCACAGTACTTCAGG
   661 CTTTTCAATTCTGCTCGACTGCCCAAGTCTAACAAGGATGAACTATTTACAGATGAAAAT
   721 GAGAGGCACTTATTGGTGATTAGAAATGGAAACTTTTATGTATTTGATGTGATAGATAGA
   781 GATGGGAATATACTGAAGCCTTCAGAAATTCAAGCACATCTACAATTCATCCTTTCTGAC
   841 AGTAGCTCAGTTCCAGCATTCCCTCTTGCGTGTCTGACTACTGAAAATCGGGACATATGG
   901 GCAAGGTTGAGACAGGAGCTACTGGAAAATGGGAATGCAGAAGCCTTAAGAAAAGTAGAT
   961 TCAGCAATATTTTGTCTGTGCCTTGATGATTTTCCAATTAACGGCTTGAACCACTTGTCC
  1021 CATACCATGTTGCATGGTGATGGCATCAATAGGTGGTATGACAAGTCATTCAACCTCATT
  1081 TTAGCCAAAGACGGCACTGCAGCAATTCACTTTGAACACTCTTGGGGAGATGGTGTTGCT
  1141 GTTCTTAGATTCCAAAATGAAGTGTTTAAAGATAGCACTCAGACACCTGCAATTACCCCT
  1201 CAGTCTCAGCCTGCTGCTGTTGATTCTGCCTCATCTGTACAGAAACTGAACTTTAAATTG
  1261 AATGATGCCTTAAAAGAAGGAATTACCCAAGCCAAACAAAAATTTGATGCTACTGTGAAA
  1321 ACATTGACTCTGGAGGCTCATCAGTTTGAAAGAGGAGGCAAGGAGATGTTAAAGAAGCAT
  1381 AAAGTCAGTCCTGATGCTATTGCTCAGCTCGCCTTCCAGATGGCTTTTCTGCAGCAATAT
  1441 GGGCAAACTGTTGCCACCTATGAATCGTGCAGCACTGCAGCTTTCAAACACGGTCGCACT
  1501 GAAACCATTCGTCCTGCCTCCATTCACACAAAGGCATGTTCAGAGGCCATTGTCAGAAAG
  1561 TCATCCAAGCACAGCGTAGCAGAGCTTCAACAGATGATTGCAGAGTGCTCTAAGTATCAC
  1621 AACCAGCTCACAAAAGAAGCTGCTATGGGCCAGGGCTTTGATCGGCACTTGTATGGCTTG
  1681 CGATGTGTGGCGGAATCTCGAGGAACCCCCTTACCAGAATTTTATCAGGACCAAGCCTAT
  1741 TCACAGATTAATCACAACATTCTCTCCACAAGTACTCTGAGCAGCCCTGCGGTCTCCATG
  1801 GGTGGATTTGGGCCAGTGGTCCCTGATGGTTTTGGTGTAGGATACGGAATACACAATGAT
  1861 TGGATTGGGTGTAATGTTTCTGGCTATCCAGCGAGGAATGTGCAAGAATTTGTCCAGTGT
  1921 GTTCACAAGTCACTGGACGATATTTTTAATGTTCTGCAAGGTAAACAGGTTAGTAACTGA

Predicted Protein Product
LSSSPFRGAPAARLPPLLSGPRRRHYGQETSFPQHLHRSLVPTLHYQKSLPRLPIPKLED
TIRRYLNAQRPLLDDDQFRKTEELAAKFEKGIGRELHEQLISQDKQNKHTSYISGPWFDM
YLRARESVVLNFNPFMVFNADSKVDYNNQLTRATNMTVSALRFLKTLRTNILEPEVFHLN
PAKSDTQAFKKFVRFVPPSLSWFCAYMVNAYPLDMSQYFRLFNSARLPKSNKDELFTDEN
ERHLLVIRNGNFYVFDVIDRDGNILKPSEIQAHLQFILSDSSSVPAFPLACLTTENRDIW
ARLRQELLENGNAEALRKVDSAIFCLCLDDFPINGLNHLSHTMLHGDGINRWYDKSFNLI
LAKDGTAAIHFEHSWGDGVAVLRFQNEVFKDSTQTPAITPQSQPAAVDSASSVQKLNFKL
NDALKEGITQAKQKFDATVKTLTLEAHQFERGGKEMLKKHKVSPDAIAQLAFQMAFLQQY
GQTVATYESCSTAAFKHGRTETIRPASIHTKACSEAIVRKSSKHSVAELQQMIAECSKYH
NQLTKEAAMGQGFDRHLYGLRCVAESRGTPLPEFYQDQAYSQINHNILSTSTLSSPAVSM
GGFGPVVPDGFGVGYGIHNDWIGCNVSGYPARNVQEFVQCVHKSLDDIFNVLQGKQVSN
Protein Alignment to Mouse
tr|Q3TFS0|Q3TFS0_MOUSE Carnitine palmitoyltransferase 2 OS=Mus musculus
            GN=Cpt2 PE=2 SV=1
      MGI:2446526 Cpt1c carnitine palmitoyltransferase 1c (Chr 7)
        Length = 658

 Score = 2423 (858.0 bits), Expect = 2.5e-252, P = 2.5e-252
 Identities = 449/624 (71%), Positives = 519/624 (83%)

Query:    34 QHLHRSLVPTLHYQKSLPRLPIPKLEDTIRRYLNAQRPLLDDDQFRKTEELAAKFEKGIG 93
             ++L  S+VPT+HYQ SLPRLPIPKLEDT++RYL+AQ+PLL+D QFRKTE L   FE GIG
Sbjct:    33 EYLQHSIVPTMHYQDSLPRLPIPKLEDTMKRYLSAQKPLLNDSQFRKTEVLCKDFENGIG 92

Query:    94 RELHEQLISQDKQNKHTSYISGPWFDMYLRARESVVLNFNPFMVFNADSKVDYNNQLTRA 153
             +ELH  L++QDKQNKHTSYISGPWFDMYL AR+SVVLNFNPFM FN D K +YN+QLTRA
Sbjct:    93 KELHAHLLAQDKQNKHTSYISGPWFDMYLTARDSVVLNFNPFMAFNPDPKSEYNDQLTRA 152

Query:   154 TNMTVSALRFLKTLRTNILEPEVFHLNPAKSDTQAFKKFVRFVPPSLSWFCAYMVNAYPL 213
             TN+TVSA+RFLKTLR  +LEPEVFHLNPA+SDT AFK+ +RFVP SLSW+ AY+VNAYPL
Sbjct:   153 TNLTVSAVRFLKTLRAGLLEPEVFHLNPARSDTDAFKRLIRFVPSSLSWYGAYLVNAYPL 212

Query:   214 DMSQYFRLFNSARLPKSNKDELFTDENERHLLVIRNGNFYVFDVIDRDGNILKPSEIQAH 273
             DMSQYFRLFNS R+PK ++DELFTD   RHLLV+R G+FYVFDV+D+DGNI+ PSEIQAH
Sbjct:   213 DMSQYFRLFNSTRIPKPSRDELFTDTKARHLLVLRKGHFYVFDVLDQDGNIVNPSEIQAH 272

Query:   274 LQFILSDSSSVPAFPLACLTTENRDIWARLRQELLENGNAEALRKVDSAIFCLCLDDFPI 333
             L++ILSDSS VP FPLA LT+ENRD+WA LRQ+L+  GN E LRKVDSA+FCLCLDDFP+
Sbjct:   273 LKYILSDSSPVPEFPLAYLTSENRDVWAELRQKLIHGGNEETLRKVDSAVFCLCLDDFPM 332

Query:   334 NGLNHLSHTMLHGDGINRWYDKSFNLILAKDGTAAIHFEHSWGDGVAVLRFQNEVFKDST 393
               L HLSHTMLHGDG NRW+DKSFNLI+AKDGTAA+HFEH+WGDGVAVLRF NEVF+DST
Sbjct:   333 KDLVHLSHTMLHGDGTNRWFDKSFNLIVAKDGTAAVHFEHAWGDGVAVLRFFNEVFRDST 392

Query:   394 QTPAITPQSQPAAVDSASSVQKLNFKLNDALKEGITQAKQKFDATVKTLTLEAHQFERGG 453
             QTPAI PQSQPAA DS+ SVQKL+FKL+ ALK G+T AK+KFDAT+KTLT++A QF+RGG
Sbjct:   393 QTPAIAPQSQPAATDSSVSVQKLSFKLSSALKAGVTAAKEKFDATMKTLTIDAIQFQRGG 452

Query:   454 KEMLKKHKVSPDXXXXXXXXXXXXXXYGQTVATYESCSTAAFKHGRTETIRPASIHTKAC 513
             KE LKK K+SPD              YGQTVATYESCSTAAFKHGRTETIRPASI TK C
Sbjct:   453 KEFLKKKKLSPDAVAQLAFQMAFLRQYGQTVATYESCSTAAFKHGRTETIRPASIFTKRC 512

Query:   514 SEAIVRKSSKHSVAELQQMIAECSKYHNQLTKEAAMGQGFDRHLYGLRCVAESRGTPLPE 573
             SEA VR+ SKHSV ELQ M+AECSKYH QLTKEAAMGQGFDRHL+ LR +A +RG  LPE
Sbjct:   513 SEAFVREPSKHSVGELQHMMAECSKYHGQLTKEAAMGQGFDRHLFALRYLAAARGVTLPE 572

Query:   574 FYQDQAYSQINHNILSTSTLSSPAVSMXXXXXXXXXXXXXXXXIHNDWIGCNVSGYPARN 633
              YQD AY +INHNILSTSTLSSPAVS+                +H+DWIGCNVS Y  RN
Sbjct:   573 LYQDPAYQRINHNILSTSTLSSPAVSLGGFAPVVPDGFGIAYAVHDDWIGCNVSSYSGRN 632

Query:   634 VQEFVQCVHKSLDDIFNVLQGKQV 657
              +EF+ CV K L+D+F+ L+GK +
Sbjct:   633 AREFLHCVQKCLEDMFDALEGKAI 656