Seroatlas · Human Serome Atlas

SALL2

Sal-like protein 2

Also known as: Hsal2, KIAA0360, SALL2_HUMAN, ZNF795

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

Protein identityUniProt · HPA

UniProt accession: Q9Y467
Gene: SALL2
Ensembl: ENSG00000165821
Chromosome: 14
Canonical length: 1007 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Vesicles

OverviewNCBI Gene

This gene encodes a protein containing multiple zinc finger domains. The encoded protein functions in optical fissure closure during development of the eye in the embryo. Mutations in this gene are associated with ocular coloboma. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

1007 residues, UniProt reviewed canonical sequence.

>Q9Y467|SALL2
     1  MSRRKQRKPQ QLISDCEGPS ASENGDASEE DHPQVCAKCC AQFTDPTEFL AHQNACSTDP
    61  PVMVIIGGQE NPNNSSASSE PRPEGHNNPQ VMDTEHSNPP DSGSSVPTDP TWGPERRGEE
   121  SSGHFLVAAT GTAAGGGGGL ILASPKLGAT PLPPESTPAP PPPPPPPPPP GVGSGHLNIP
   181  LILEELRVLQ QRQIHQMQMT EQICRQVLLL GSLGQTVGAP ASPSELPGTG TASSTKPLLP
   241  LFSPIKPVQT SKTLASSSSS SSSSSGAETP KQAFFHLYHP LGSQHPFSAG GVGRSHKPTP
   301  APSPALPGST DQLIASPHLA FPSTTGLLAA QCLGAARGLE ATASPGLLKP KNGSGELSYG
   361  EVMGPLEKPG GRHKCRFCAK VFGSDSALQI HLRSHTGERP YKCNVCGNRF TTRGNLKVHF
   421  HRHREKYPHV QMNPHPVPEH LDYVITSSGL PYGMSVPPEK AEEEAATPGG GVERKPLVAS
   481  TTALSATESL TLLSTSAGTA TAPGLPAFNK FVLMKAVEPK NKADENTPPG SEGSAISGVA
   541  ESSTATRMQL SKLVTSLPSW ALLTNHFKST GSFPFPYVLE PLGASPSETS KLQQLVEKID
   601  RQGAVAVTSA ASGAPTTSAP APSSSASSGP NQCVICLRVL SCPRALRLHY GQHGGERPFK
   661  CKVCGRAFST RGNLRAHFVG HKASPAARAQ NSCPICQKKF TNAVTLQQHV RMHLGGQIPN
   721  GGTALPEGGG AAQENGSEQS TVSGARSFPQ QQSQQPSPEE ELSEEEEEED EEEEEDVTDE
   781  DSLAGRGSES GGEKAISVRG DSEEASGAEE EVGTVAAAAT AGKEMDSNEK TTQQSSLPPP
   841  PPPDSLDQPQ PMEQGSSGVL GGKEEGGKPE RSSSPASALT PEGEATSVTL VEELSLQEAM
   901  RKEPGESSSR KACEVCGQAF PSQAALEEHQ KTHPKEGPLF TCVFCRQGFL ERATLKKHML
   961  LAHHQVQPFA PHGPQNIAAL SLVPGCSPSI TSTGLSPFPR KDDPTIP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SALL2 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): 0.63
Highest tissue expression: 64 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 64 nTPM
hypothalamus: 40 nTPM
basal ganglia: 37 nTPM
midbrain: 36 nTPM
amygdala: 32 nTPM
cerebral cortex: 26 nTPM

Single-cell type

pituitary stem cells: 50 nCPM
ependymal cells: 38 nCPM
astrocytes: 30 nCPM
bergmann glia: 28 nCPM
pituicytes/fscs: 26 nCPM
megakaryocytes: 25 nCPM

Immune cell

naive CD8 T-cell: 1.1 nTPM
naive CD4 T-cell: 0.5 nTPM
plasmacytoid DC: 0.5 nTPM
T-reg: 0.5 nTPM
memory CD4 T-cell: 0.4 nTPM
memory CD8 T-cell: 0.3 nTPM

Brain region

thalamus: 89 nTPM
midbrain: 80 nTPM
hypothalamus: 78 nTPM
cerebellum: 74 nTPM
medulla oblongata: 72 nTPM
amygdala: 69 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SALL2.

Disease | AllUniProt

Conditions SALL2 is implicated in, by any mechanism.

Coloboma, ocular, autosomal recessive (COAR) MIM:216820

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 214 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Coloboma, ocular, autosomal recessive

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): 0.69
gnomAD pLI: 0
gnomAD missense Z: 0.71
DepMap mean gene effect: -0.08
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

Biological processes

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SALL2 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 SALL2 as an antibody target. Whether an autoantibody or antibody against SALL2 could matter depends on whether native SALL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SALL2 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 SALL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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