Seroatlas · Human Serome Atlas

ZNF630

Zinc finger protein 630

Also known as: BC037316, dJ54B20.2, FLJ20573, MGC138344, ZN630_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q2M218
Gene: ZNF630
Ensembl: ENSG00000221994
Chromosome: X
Canonical length: 657 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a protein containing an N-terminal Kruppel-associated box-containing (KRAB) domain and 13 Kruppel-type C2H2 zinc finger domains. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

657 residues, UniProt reviewed canonical sequence.

>Q2M218|ZNF630
     1  MIESQEPVTF EDVAVDFTQE EWQQLNPAQK TLHRDVMLET YNHLVSVGCS GIKPDVIFKL
    61  EHGKDPWIIE SELSRWIYPD RVKGLESSQQ IISGELLFQR EILERAPKDN SLYSVLKIWH
   121  IDNQMDRYQG NQDRVLRQVT VISRETLTDE MGSKYSAFGK MFNRCTDLAP LSQKFHKFDS
   181  CENSLKSNSD LLNYNRSYAR KNPTKRFRCG RPPKYNASCS VPEKEGFIHT GMEPYGDSQC
   241  EKVLSHKQAH VQYKKFQARE KPNVCSMCGK AFIKKSQLII HQRIHTGEKP YVCGDCRKAF
   301  SEKSHLIVHQ RIHTGEKPYE CTKYGRAFSR KSPFTVHQRV HTGEKPYECF ECPKAFSQKS
   361  HLIIHQRVHT REKPFECSEC RKAFCEMSHL FIHQITHTGK KPYECTECGK TFPRKTQLII
   421  HQRTHTGEKP YKCGECGKTF CQQSHLIGHQ RIHTGEKPYV CTDCGKAFSQ KSHLTGHQRL
   481  HTGEKPYMCT ECGKSFSQKS PLIIHQRIHT GEKPYQCGEC GKTFSQKSLL IIHLRVHTGE
   541  KPYECTECGR AFSLKSHLIL HQRGHTGEKP YECSECGKAF CGKSPLIIHQ KTHPREKTPE
   601  CAESGMTFFW KSQMITYQRR HTGEKPSRCS DCGKAFCQHV YFTGHQNPYR KDTLYIC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZNF630 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): 0.45
Highest tissue expression: 4.6 nTPM

Expression across tissuesHPA

Tissue

ovary: 4.6 nTPM
parathyroid gland: 3.9 nTPM
prostate: 3.7 nTPM
cerebellum: 3.4 nTPM
retina: 3.4 nTPM
thyroid gland: 3.4 nTPM

Single-cell type

podocytes: 36 nCPM
lactotrophs: 33 nCPM
adrenal medulla cells: 32 nCPM
somatotrophs: 26 nCPM
choroid plexus epithelial cells: 26 nCPM
distal convoluted tubule cells: 26 nCPM

Immune cell

basophil: 2.3 nTPM
eosinophil: 2 nTPM
myeloid DC: 1.5 nTPM
memory B-cell: 1 nTPM
naive CD8 T-cell: 1 nTPM
MAIT T-cell: 0.9 nTPM

Brain region

cerebellum: 7.4 nTPM
white matter: 6.3 nTPM
pons: 5.9 nTPM
thalamus: 5.9 nTPM
choroid plexus: 5.7 nTPM
midbrain: 5.6 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): 1.1
gnomAD pLI: 0
gnomAD missense Z: -0.14
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

regulation of transcription by RNA polymerase II

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ZNF630 as an antibody target. Whether an autoantibody or antibody against ZNF630 could matter depends on whether native ZNF630 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZNF630 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 ZNF630 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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