Seroatlas · Human Serome Atlas

ARHGEF12

Rho guanine nucleotide exchange factor 12

Also known as: ARHGC_HUMAN, KIAA0382, LARG

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

Protein identityUniProt · HPA

UniProt accession: Q9NZN5
Gene: ARHGEF12
Ensembl: ENSG00000196914
Chromosome: 11
Canonical length: 1544 aa
Protein class: Cancer-related genes, Disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Canonical amino-acid sequenceUniProt

1544 residues, UniProt reviewed canonical sequence.

>Q9NZN5|ARHGEF12
     1  MSGTQSTITD RFPLKKPIRH GSILNRESPT DKKQKVERIA SHDFDPTDSS SKKTKSSSEE
    61  SRSEIYGLVQ RCVIIQKDDN GFGLTVSGDN PVFVQSVKED GAAMRAGVQT GDRIIKVNGT
   121  LVTHSNHLEV VKLIKSGSYV ALTVQGRPPG SPQIPLADSE VEPSVIGHMS PIMTSPHSPG
   181  ASGNMERITS PVLMGEENNV VHNQKVEILR KMLQKEQERL QLLQEDYNRT PAQRLLKEIQ
   241  EAKKHIPQLQ EQLSKATGSA QDGAVVTPSR PLGDTLTVSE AETDPGDVLG RTDCSSGDAS
   301  RPSSDNADSP KSGPKERIYL EENPEKSETI QDTDTQSLVG SPSTRIAPHI IGAEDDDFGT
   361  EHEQINGQCS CFQSIELLKS RPAHLAVFLH HVVSQFDPAT LLCYLYSDLY KHTNSKETRR
   421  IFLEFHQFFL DRSAHLKVSV PDEMSADLEK RRPELIPEDL HRHYIQTMQE RVHPEVQRHL
   481  EDFRQKRSMG LTLAESELTK LDAERDKDRL TLEKERTCAE QIVAKIEEVL MTAQAVEEDK
   541  SSTMQYVILM YMKHLGVKVK EPRNLEHKRG RIGFLPKIKQ SMKKDKEGEE KGKRRGFPSI
   601  LGPPRRPSRH DNSAIGRAME LQKARHPKHL STPSSVSPEP QDSAKLRQSG LANEGTDAGY
   661  LPANSMSSVA SGASFSQEGG KENDTGSKQV GETSAPGDTL DGTPRTLNTV FDFPPPPLDQ
   721  VQEEECEVER VTEHGTPKPF RKFDSVAFGE SQSEDEQFEN DLETDPPNWQ QLVSREVLLG
   781  LKPCEIKRQE VINELFYTER AHVRTLKVLD QVFYQRVSRE GILSPSELRK IFSNLEDILQ
   841  LHIGLNEQMK AVRKRNETSV IDQIGEDLLT WFSGPGEEKL KHAAATFCSN QPFALEMIKS
   901  RQKKDSRFQT FVQDAESNPL CRRLQLKDII PTQMQRLTKY PLLLDNIAKY TEWPTEREKV
   961  KKAADHCRQI LNYVNQAVKE AENKQRLEDY QRRLDTSSLK LSEYPNVEEL RNLDLTKRKM
  1021  IHEGPLVWKV NRDKTIDLYT LLLEDILVLL QKQDDRLVLR CHSKILASTA DSKHTFSPVI
  1081  KLSTVLVRQV ATDNKALFVI SMSDNGAQIY ELVAQTVSEK TVWQDLICRM AASVKEQSTK
  1141  PIPLPQSTPG EGDNDEEDPS KLKEEQHGIS VTGLQSPDRD LGLESTLISS KPQSHSLSTS
  1201  GKSEVRDLFV AERQFAKEQH TDGTLKEVGE DYQIAIPDSH LPVSEERWAL DALRNLGLLK
  1261  QLLVQQLGLT EKSVQEDWQH FPRYRTASQG PQTDSVIQNS ENIKAYHSGE GHMPFRTGTG
  1321  DIATCYSPRT STESFAPRDS VGLAPQDSQA SNILVMDHMI MTPEMPTMEP EGGLDDSGEH
  1381  FFDAREAHSD ENPSEGDGAV NKEEKDVNLR ISGNYLILDG YDPVQESSTD EEVASSLTLQ
  1441  PMTGIPAVES THQQQHSPQN THSDGAISPF TPEFLVQQRW GAMEYSCFEI QSPSSCADSQ
  1501  SQIMEYIHKI EADLEHLKKV EESYTILCQR LAGSALTDKH SDKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARHGEF12 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): 0.5
Highest tissue expression: 64 nTPM

Expression across tissuesHPA

Tissue

parathyroid gland: 64 nTPM
kidney: 63 nTPM
liver: 62 nTPM
thyroid gland: 48 nTPM
skin: 47 nTPM
retina: 44 nTPM

Single-cell type

podocytes: 1,102 nCPM
endometrial glandular cells: 654 nCPM
myonuclei: 597 nCPM
smooth muscle cells: 496 nCPM
cardiomyocytes: 470 nCPM
endometrial luminal cells: 423 nCPM

Immune cell

basophil: 0.4 nTPM
NK-cell: 0.3 nTPM
gdT-cell: 0.1 nTPM
memory CD8 T-cell: 0.1 nTPM
T-reg: 0.1 nTPM
classical monocyte: 0 nTPM

Brain region

thalamus: 97 nTPM
cerebral cortex: 85 nTPM
amygdala: 75 nTPM
choroid plexus: 75 nTPM
cerebellum: 74 nTPM
hypothalamus: 74 nTPM

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): 0.18
gnomAD pLI: 1
gnomAD missense Z: 3.25
DepMap mean gene effect: 0
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 ARHGEF12 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 ARHGEF12 as an antibody target. Whether an autoantibody or antibody against ARHGEF12 could matter depends on whether native ARHGEF12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ARHGEF12 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 ARHGEF12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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