Seroatlas · Human Serome Atlas

INF2

Inverted formin-2

Also known as: C14orf151, C14orf173, INF2_HUMAN, MGC13251

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

Protein identityUniProt · HPA

UniProt accession: Q27J81
Gene: INF2
Ensembl: ENSG00000203485
Chromosome: 14
Canonical length: 1249 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nuclear bodies,Endoplasmic reticulum

OverviewNCBI Gene

This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]

Canonical amino-acid sequenceUniProt

1249 residues, UniProt reviewed canonical sequence.

>Q27J81|INF2
     1  MSVKEGAQRK WAALKEKLGP QDSDPTEANL ESADPELCIR LLQMPSVVNY SGLRKRLEGS
    61  DGGWMVQFLE QSGLDLLLEA LARLSGRGVA RISDALLQLT CVSCVRAVMN SRQGIEYILS
   121  NQGYVRQLSQ ALDTSNVMVK KQVFELLAAL CIYSPEGHVL TLDALDHYKT VCSQQYRFSI
   181  VMNELSGSDN VPYVVTLLSV INAVILGPED LRARTQLRNE FIGLQLLDVL ARLRDLEDAD
   241  LLIQLEAFEE AKAEDEEELL RVSGGVDMSS HQEVFASLFH KVSCSPVSAQ LLSVLQGLLH
   301  LEPTLRSSQL LWEALESLVN RAVLLASDAQ ECTLEEVVER LLSVKGRPRP SPLVKAHKSV
   361  QANLDQSQRG SSPQNTTTPK PSVEGQQPAA AAACEPVDHA QSESILKVSQ PRALEQQAST
   421  PPPPPPPPLL PGSSAEPPPP PPPPPLPSVG AKALPTAPPP PPLPGLGAMA PPAPPLPPPL
   481  PGSCEFLPPP PPPLPGLGCP PPPPPLLPGM GWGPPPPPPP LLPCTCSPPV AGGMEEVIVA
   541  QVDHGLGSAW VPSHRRVNPP TLRMKKLNWQ KLPSNVAREH NSMWASLSSP DAEAVEPDFS
   601  SIERLFSFPA AKPKEPTMVA PRARKEPKEI TFLDAKKSLN LNIFLKQFKC SNEEVAAMIR
   661  AGDTTKFDVE VLKQLLKLLP EKHEIENLRA FTEERAKLAS ADHFYLLLLA IPCYQLRIEC
   721  MLLCEGAAAV LDMVRPKAQL VLAACESLLT SRQLPIFCQL ILRIGNFLNY GSHTGDADGF
   781  KISTLLKLTE TKSQQNRVTL LHHVLEEAEK SHPDLLQLPR DLEQPSQAAG INLEIIRSEA
   841  SSNLKKLLET ERKVSASVAE VQEQYTERLQ ASISAFRALD ELFEAIEQKQ RELADYLCED
   901  AQQLSLEDTF STMKAFRDLF LRALKENKDR KEQAAKAERR KQQLAEEEAR RPRGEDGKPV
   961  RKGPGKQEEV CVIDALLADI RKGFQLRKTA RGRGDTDGGS KAASMDPPRA TEPVATSNPA
  1021  GDPVGSTRCP ASEPGLDATT ASESRGWDLV DAVTPGPQPT LEQLEEGGPR PLERRSSWYV
  1081  DASDVLTTED PQCPQPLEGA WPVTLGDAQA LKPLKFSSNQ PPAAGSSRQD AKDPTSLLGV
  1141  LQAEADSTSE GLEDAVHSRG ARPPAAGPGG DEDEDEEDTA PESALDTSLD KSFSEDAVTD
  1201  SSGSGTLPRA RGRASKGTGK RRKKRPSRSQ EEVPPDSDDN KTKKLCVIQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against INF2 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: 54 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 54 nTPM
spinal cord: 39 nTPM
adipose tissue: 34 nTPM
basal ganglia: 32 nTPM
colon: 32 nTPM
cerebral cortex: 30 nTPM

Single-cell type

platelets: 436 nCPM
foveolar cells: 201 nCPM
colonocytes: 158 nCPM
podocytes: 148 nCPM
extravillous trophoblasts: 127 nCPM
oligodendrocytes: 127 nCPM

Immune cell

plasmacytoid DC: 5.1 nTPM
T-reg: 4 nTPM
memory CD4 T-cell: 3.2 nTPM
total PBMC: 3.2 nTPM
naive CD4 T-cell: 2.5 nTPM
myeloid DC: 2.4 nTPM

Brain region

white matter: 173 nTPM
cerebral cortex: 100 nTPM
medulla oblongata: 96 nTPM
basal ganglia: 92 nTPM
pons: 88 nTPM
thalamus: 86 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about INF2.

Disease | AllUniProt

Conditions INF2 is implicated in, by any mechanism.

Focal segmental glomerulosclerosis 5 (FSGS5) MIM:613237
Charcot-Marie-Tooth disease, dominant intermediate E (CMTDIE) MIM:614455

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 1,818 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease
Inborn genetic diseases
Kidney disorder

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): 0.31
gnomAD pLI: 0.97
gnomAD missense Z: 2.31
DepMap mean gene effect: 0.1
DepMap dependency class: none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of INF2 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 INF2 as an antibody target. Whether an autoantibody or antibody against INF2 could matter depends on whether native INF2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

INF2 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 INF2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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