Seroatlas · Human Serome Atlas

FAM186B

Protein FAM186B

Also known as: C12orf25, DKFZP434J0113, F186B_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q8IYM0
Gene: FAM186B
Ensembl: ENSG00000135436
Chromosome: 12
Canonical length: 893 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Centrosome,Basal body,Cytosol

OverviewNCBI Gene

This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

Canonical amino-acid sequenceUniProt

893 residues, UniProt reviewed canonical sequence.

>Q8IYM0|FAM186B
     1  MEKDDPPQLV TPTSVKAIIL RIEAAQLTRA QEDISTQLSD ILDNVNCVIN RFQEELGYDL
    61  KENAKSQQRD PKGKKRFILL EKIASFSKDA MMKEKHLYDI LRWLGDWGDT LTYEIGPRKS
   121  EEEAAALDEW IEVTEKVLPL SLIATKRGIE SLTALCSTLI EGQKKRSQVS KRTFWQGWQG
   181  RSPQTSPSHP QPLSPEQMLQ DQHTMNTKAS EVTSMLQELL DSTMFSKGEV RAIRYMATVV
   241  ENLNKALILQ HKENRSLETK YRHLQMQATK ELSSQRLHFQ QFMEVLESRR DALLKQVEIL
   301  GGRYHDLLLM KQALEFQLKK AQNATGQAED LAEVSVDSPG PSERETLPRK ETVMEESQQE
   361  PMKEEQLFSP LPPSPMAMIR DSGAIAAGHQ PLSTMTVRSR VADVFGSKDT ESLEPVLLPL
   421  VDRRFPKKWE RPVAESLGHK DKDQEDYFQK GGLQIKFHCS KQLSLESSRQ VTSESQEEPW
   481  EEEFGREMRR QLWLEEEEMW QQRQKKWALL EQEHQEKLRQ WNLEDLAREQ QRRWVQLEKE
   541  QESPRREPEQ LGEDVERRIF TPTSRWRDLE KAELSLVPAP SRTQSAHQSR RPHLPMSPST
   601  QQPALGKQRP MSSVEFTYRP RTRRVPTKPK KSASFPVTGT SIRRLTWPSL QISPANIKKK
   661  VYHMDMEAQR KNLQLLSEES ELRLPHYLRS KALELTTTTM ELGALRLQYL CHKYIFYRRL
   721  QSLRQEAINH VQIMKETEAS YKAQNLYIFL ENIDRLQSLR LQAWTDKQKG LEEKHRECLS
   781  SMVTMFPKLQ LEWNVHLNIP EVTSPKPKKC KLPAASPRHI RPSGPTYKQP FLSRHRACVP
   841  LQMARQQGKQ MEAVWKTEVA SSSYAIEKKT PASLPRDQLR GHPDIPRLLT LDV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FAM186B 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.56
Highest tissue expression: 44 nTPM

Expression across tissuesHPA

Tissue

testis: 44 nTPM
pancreas: 1.5 nTPM
skin: 1.1 nTPM
parathyroid gland: 0.9 nTPM
thyroid gland: 0.9 nTPM
choroid plexus: 0.7 nTPM

Single-cell type

late spermatids: 149 nCPM
late primary spermatocytes: 111 nCPM
cardiomyocytes: 100 nCPM
early spermatids: 77 nCPM
epicardial cells: 27 nCPM
early primary spermatocytes: 11 nCPM

Immune cell

naive B-cell: 0.3 nTPM
MAIT T-cell: 0.2 nTPM
T-reg: 0.2 nTPM
naive CD4 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

cerebellum: 7 nTPM
cerebral cortex: 6.4 nTPM
hypothalamus: 6.2 nTPM
amygdala: 6 nTPM
thalamus: 5.9 nTPM
white matter: 5.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FAM186B.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 212 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Nephronophthisis

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): 1.24
gnomAD pLI: 0
gnomAD missense Z: 0.8
DepMap mean gene effect: -0.12
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

Cellular components

protein-containing complex

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Coiled coil

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FAM186B as an antibody target. Whether an autoantibody or antibody against FAM186B could matter depends on whether native FAM186B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FAM186B 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 FAM186B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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