Seroatlas · Human Serome Atlas

C2CD6

Cation channel sperm-associated targeting subunit tau

Also known as: ALS2CR11, CTSRT_HUMAN, FLJ25351

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q53TS8
Gene: C2CD6
Ensembl: ENSG00000155754
Chromosome: 2
Canonical length: 1820 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Acrosome,Equatorial segment,Principal piece

OverviewNCBI Gene

An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membrane targeting C2 domain. This domain is often found in proteins that are involved in membrane trafficking and signal transduction. [provided by RefSeq, Jun 2016]

Canonical amino-acid sequenceUniProt

1820 residues, UniProt reviewed canonical sequence.

>Q53TS8|C2CD6
     1  MEPPQETNRP FSTLDNRSGQ VQVLSATPLL QRNPYSSPDI MHIKGSEASS VPYALNQGTT
    61  ALPKNKNQEG TGHRLLNMLR KTLKESDSEE LEITQETPNL VPFGDVVGCL GIHIKNCRHF
   121  MPKISLQHYA NLFIRISINK AVKCTKMCSL LSKNDEKNTV IKFDEVKYFS VQVPRRYDDK
   181  RNNILLELIQ YDNREKRAFL LGSVQIHLYE VIQKGCFIEE VQVLHGNIFV CRLEVEFMFS
   241  YGNFGYGFSH QLKPLQKITE PSMFMNLAPP PERTDPVTKV ITPQTVEYPA FLSPDLNVTV
   301  GTPAVQSSNQ PSVVRLEKLQ QQPRERLEKM KKEYRNLNTW IDKANYLESI LMPKLEHKDS
   361  EETNIDEASE NTKSNHPEEE LENIVGVDIP LVNEEAETTA NELLDNDSEK GLTIPTLNQS
   421  DQDNSTADAS KNDESTPSPT EVHSLCTISN QETIKAGRIP PLGERQSESM PDRKMKNVFF
   481  PLEVKLKDNY PSILKADSSL SEVAFSPKEY NSPSFRPEYI EFKPKFQFQK FNKNGFDPFL
   541  RNINKMSVRK RKDQDIYKYR NILGAEVIEH EDQDPPYPAQ SKTAGPANTT WAHDPNIFTT
   601  KMLETENKLA PDPTINTIKG LDTKNSLKEN LPNVSLPSIK GESSRAGNVQ ANTCHLSKSL
   661  NFTPHIEYLK QSMILKSILS ENLQDLSDKL FSKPEVSMNS EAREKSSSPL LSIHDKSSSS
   721  MEDNVLEKKQ DLNNWLSEKD ILNSKTTLSQ IIKNIPADSF SEGSQIIENI PADSLLEGGQ
   781  VIKNIPEYSL SEGGQIIKNI PADSFLESGP GQSPEVEEHV SKKHFEADER DFPIKKNSST
   841  KKKHLISEVP NSKSGSSGTV HDYIMRQIFT APIFSELEIE VKEPSETPMN LENQLPTPWK
   901  RSLSSHILFH EENADEIELP QPRSATSQII QAFPIDTLLE SGIIKVIELD KEHHKSSLLG
   961  TGITSPKGNL KDSQEYYSEI RSETEPLSEQ SIPIIPKDTT SVSRAEFIQE DQNMFPQDSS
  1021  YYSIANKELY LPRNGQRLCK DKNDLSSTLE SLTNSLMDKL SESDEIMLKS FLKNIFNVFF
  1081  KYNHSERRGQ PEKELERLIQ PSFTSDTEHL EELQEDFDKA DKLDRKPILS PKLRVFLEEL
  1141  SESEVKHLKS ELSKQIQHYL VERLSESGHI TKEDLPKIYQ NLYLMNEKAE QKGPNSFQGK
  1201  YSETVKEIMS FVNNFNHHFI DKHLEIKLRS FLKEILQNYF LKNISESSLF NETASETIYP
  1261  NISSLRTKSV SISFHELEQD ISKGSFGRRF EINMKYPLSK SLQNYLIALS ENELLHLKAD
  1321  LSKHLQSLFI EKLSKSGLMT KKQLEGINQH INLLNSSSIP LKYIKTHLPF RDDCHFVEKH
  1381  SEKQNKYSRI VQQTTLQTVS EDKLREAELI REKEKKYFPL QNLKGNSSLI KEQKSYYTKE
  1441  EAKTPSLIKV QPSSNENIQA SPLSKSSEIL TDILLKKLRK EHVFTQLPQA ENSVHKTEIQ
  1501  DPYSWGGKSK ITQSKAWCEK TLKMKSLDRK EHVNIYKWTV QEKPEAVLTS YPRIPNARMP
  1561  REDEYLNRIT FPSWQSSTLT HFNTETGEKS KLEDQYCQTL KGNNNNNKKH LVTFAQYKKE
  1621  IQTLYIKPDE ICSEKCAKFP EIQSFQYKVV EDEKNLKPHL FPELFKIEDL KPKVRKERDR
  1681  VAQPKKSFNK IVRILPTTLP TTRIHLKKSV PRTLLHWTAR RTIHDCSDKF EDLHDMTSFT
  1741  HLKKVKSRSR LLGKSSDDIH NHARHSARPY TAPEVNKQRE SYSGKFTSRR MVSSGLVHIN
  1801  DKTSDYEMHK MRPKKIKRGY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against C2CD6 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.58
Highest tissue expression: 37 nTPM

Expression across tissuesHPA

Tissue

testis: 37 nTPM
choroid plexus: 1.2 nTPM
heart muscle: 1.1 nTPM
spinal cord: 1.1 nTPM
ovary: 0.8 nTPM
retina: 0.8 nTPM

Single-cell type

late primary spermatocytes: 399 nCPM
late spermatids: 290 nCPM
early spermatids: 268 nCPM
somatotrophs: 156 nCPM
cardiomyocytes: 104 nCPM
thyrotrophs: 87 nCPM

Immune cell

non-classical monocyte: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

white matter: 16 nTPM
medulla oblongata: 14 nTPM
spinal cord: 12 nTPM
pons: 11 nTPM
midbrain: 7.8 nTPM
cerebellum: 7.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about C2CD6.

Disease | AllUniProt

Conditions C2CD6 is implicated in, by any mechanism.

Spermatogenic failure 68 (SPGF68) MIM:619805

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 140 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 68

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.74
gnomAD pLI: 0
DepMap mean gene effect: -0.07
DepMap dependency class: selective

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

C2 domain
Cation channel sperm-associated targeting subunit tau
Cation channel sperm-associated targeting subunit tau, C2 domain
Cation channel sperm-associated targeting subunit tau

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads C2CD6 as an antibody target. Whether an autoantibody or antibody against C2CD6 could matter depends on whether native C2CD6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

C2CD6 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label C2CD6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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