Seroatlas · Human Serome Atlas

ANKS6

Ankyrin repeat and SAM domain-containing protein 6

Also known as: ANKRD14, ANKS6_HUMAN, FLJ36928, NPHP16, SAMD6

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

Protein identityUniProt · HPA

UniProt accession: Q68DC2
Gene: ANKS6
Ensembl: ENSG00000165138
Chromosome: 9
Canonical length: 871 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoli fibrillar center,Primary cilium,Cytosol
Quaternary structure: Homooligomer

OverviewNCBI Gene

This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]

Canonical amino-acid sequenceUniProt

871 residues, UniProt reviewed canonical sequence.

>Q68DC2|ANKS6
     1  MGEGGLPPAF QLLLRACDQG DTETARRLLE PGAAEPAERG AEPEAGAEPA GAEVAGPGAA
    61  AAGAVGAPVP VDCSDEAGNT ALQFAAAGGH EPLVRFLLRR GASVNSRNHY GWSALMQAAR
   121  FGHVSVAHLL LDHGADVNAQ NRLGASVLTV ASRGGHLGVV KLLLEAGAFV DHHHPSGEQL
   181  GLGGSRDEPL DITALMAAIQ HGHEAVVRLL MEWGADPNHA ARTVGWSPLM LAALTGRLGV
   241  AQQLVEKGAN PDHLSVLEKT AFEVALDCKH RDLVDYLDPL TTVRPKTDEE KRRPDIFHAL
   301  KMGNFQLVKE IADEDPSHVN LVNGDGATPL MLAAVTGQLA LVQLLVERHA DVDKQDSVHG
   361  WTALMQATYH GNKEIVKYLL NQGADVTLRA KNGYTAFDLV MLLNDPDTEL VRLLASVCMQ
   421  VNKDKGRPSH QPPLPHSKVR QPWSIPVLPD DKGGLKSWWN RMSNRFRKLK LMQTLPRGLS
   481  SNQPLPFSDE PEPALDSTMR AAPQDKTSRS ALPDAAPVTK DNGPGSTRGE KEDTLLTTML
   541  RNGAPLTRLP SDKLKAVIPP FLPPSSFELW SSDRSRTRHN GKADPMKTAL PQRASRGHPV
   601  GGGGTDTTPV RPVKFPSLPR SPASSANSGN FNHSPHSSGG SSGVGVSRHG GELLNRSGGS
   661  IDNVLSQIAA QRKKAAGLLE QKPSHRSSPV GPAPGSSPSE LPASPAGGSA PVGKKLETSK
   721  RPPSGTSTTS KSTSPTLTPS PSPKGHTAES SVSSSSSHRQ SKSSGGSSSG TITDEDELTG
   781  ILKKLSLEKY QPIFEEQEVD MEAFLTLTDG DLKELGIKTD GSRQQILAAI SELNAGKGRE
   841  RQILQETIHN FHSSFESSAS NTRAPGNSPC A

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ANKS6 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): 0.49
Highest tissue expression: 26 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 26 nTPM
thyroid gland: 13 nTPM
pancreas: 12 nTPM
stomach: 11 nTPM
kidney: 10 nTPM
colon: 9.7 nTPM

Single-cell type

brain excitatory neurons: 73 nCPM
retinal ganglion cells: 70 nCPM
alveolar cells type 1: 67 nCPM
oligodendrocytes: 66 nCPM
retinal bipolar cells: 61 nCPM
loop of henle epithelial cells: 45 nCPM

Immune cell

memory CD8 T-cell: 0.4 nTPM
naive CD4 T-cell: 0.3 nTPM
gdT-cell: 0.2 nTPM
T-reg: 0.2 nTPM
MAIT T-cell: 0.1 nTPM
memory B-cell: 0.1 nTPM

Brain region

cerebellum: 22 nTPM
pons: 19 nTPM
medulla oblongata: 15 nTPM
thalamus: 14 nTPM
cerebral cortex: 13 nTPM
white matter: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ANKS6.

Disease | AllUniProt

Conditions ANKS6 is implicated in, by any mechanism.

Nephronophthisis 16 (NPHP16) MIM:615382

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 621 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Nephronophthisis 16
Thyroid cancer, nonmedullary, 1

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): 0.69
gnomAD pLI: 0
gnomAD missense Z: -0.08
DepMap mean gene effect: -0.19
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ANKS6 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ANKS6 as an antibody target. Whether an autoantibody or antibody against ANKS6 could matter depends on whether native ANKS6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ANKS6 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 ANKS6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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