Seroatlas · Human Serome Atlas

TMEM67

Meckelin

Also known as: JBTS6, MGC26979, MKS3, MKS3_HUMAN, NPHP11

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

Protein identityUniProt · HPA

UniProt accession
Q5HYA8
Gene
TMEM67
Ensembl
ENSG00000164953
Chromosome
8
Canonical length
995 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
Quaternary structure
Homodimer

OverviewNCBI Gene

The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6). [provided by RefSeq, Nov 2008]

Canonical amino-acid sequenceUniProt

995 residues, UniProt reviewed canonical sequence.

>Q5HYA8|TMEM67
     1  MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL
    61  SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD
   121  LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT
   181  SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY
   241  ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG
   301  DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT
   361  ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL
   421  QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN
   481  GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL
   541  LKTAGWKRRI GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL
   601  PMPIQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK AVEGEGGVRS
   661  ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE VVGFKNLALM DSSSSLSRNP
   721  PSYIAPYSCI LRYAVSAALW LAIGIIQVVF FAVFYERFIE DKIRQFVDLC SMSNISVFLL
   781  SHKCFGYYIH GRSVHGHADT NMEEMNMNLK REAENLCSQR GLVPNTDGQT FEIAISNQMR
   841  QHYDRIHETL IRKNGPARLL SSSASTFEQS IKAYHMMNKF LGSFIDHVHK EMDYFIKDKL
   901  LLERILGMEF MEPMEKSIFY NDEGYSFSSV LYYGNEATLL IFDLLFFCVV DLACQNFILA
   961  SFLTYLQQEI FRYIRNTVGQ KNLASKTLVD QRFLI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM67 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
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.27
Highest tissue expression
21 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 21 nTPM
  • fallopian tube: 10 nTPM
  • choroid plexus: 6.2 nTPM
  • testis: 5.3 nTPM
  • parathyroid gland: 5.1 nTPM
  • thyroid gland: 4.7 nTPM

Single-cell type

  • ependymal cells: 533 nCPM
  • respiratory ciliated cells: 328 nCPM
  • choroid plexus epithelial cells: 216 nCPM
  • fallopian tube ciliated cells: 202 nCPM
  • epididymal efferent duct ciliated cells: 145 nCPM
  • endometrial ciliated cells: 133 nCPM

Immune cell

  • MAIT T-cell: 0.6 nTPM
  • naive CD8 T-cell: 0.6 nTPM
  • myeloid DC: 0.5 nTPM
  • gdT-cell: 0.4 nTPM
  • memory CD4 T-cell: 0.4 nTPM
  • basophil: 0.3 nTPM

Brain region

  • choroid plexus: 12 nTPM
  • medulla oblongata: 9.8 nTPM
  • midbrain: 8 nTPM
  • white matter: 6.7 nTPM
  • spinal cord: 5.5 nTPM
  • hypothalamus: 4.7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM67.

Disease | AllUniProt

Conditions TMEM67 is implicated in, by any mechanism.

Disease | GeneticClinVar

241 pathogenic / likely-pathogenic of 1,424 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.94
gnomAD pLI
0
gnomAD missense Z
0.49
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM67 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 TMEM67 as an antibody target. Whether an autoantibody or antibody against TMEM67 could matter depends on whether native TMEM67 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM67 is annotated at the cell surface, where native TMEM67 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TMEM67 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TMEM67. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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