ZNF630 (zinc finger protein 630)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57232
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein 630
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNF630
Synonyms (NCBI Gene) Gene synonyms aliases
dJ54B20.2
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez 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 dis
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0005634 Component Nucleus IBA 21873635
GO:0006357 Process Regulation of transcription by RNA polymerase II IBA 21873635
GO:0046872 Function Metal ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
300819 28855 ENSG00000221994
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q2M218
Protein name Zinc finger protein 630
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01352 KRAB 7 → 48 KRAB box Family
PF00096 zf-C2H2 264 → 285 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 291 → 313 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 347 → 369 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 403 → 425 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 431 → 453 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 459 → 481 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 487 → 509 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 515 → 537 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 543 → 565 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 571 → 593 Zinc finger, C2H2 type Domain
Sequence 
MIESQEPVTFEDVAVDFTQEEWQQLNPAQKTLHRDVMLETYNHLVSVGCSGIKPDVIFKL
EHGKDPWIIESELSRWIYPDRVKGLESSQQIISGELLFQREILERAPKDNSLYSVLKIWH
IDNQMDRYQGNQDRVLRQVTVISRETLTDEMGSKYSAFGKMFNRCTDLAPLSQKFHKFDS
CENSLKSNSDLLNYNRSYARKNPTKRFRCGRPPKYNASCSVPEKEGFIHTGMEPYGDSQC
EKVLSHKQAHVQYKKFQAREKPNVCSMCGKAFIKKSQLIIHQRIHTGEKPYVCGDCRKAF
SEKSHLIVHQRIHTGEKPYECTKYGRAFSRKSPFTVHQRVHTGEKPYECFECPKAFSQKS
HLIIHQRVHTREKPFECSECRKAFCEMSHLFIHQITHTGKKPYECTECGKTFPRKTQLII
HQRTHTGEKPYKCGECGKTFCQQSHLIGHQRIHTGEKPYVCTDCGKAFSQKSHLTGHQRL
HTGEKPYMCTECGKSFSQKSPLIIHQRIHTGEKPYQCGECGKTFSQKSLLIIHLRVHTGE
KPYECTECGRAFSLKSHLILHQRGHTGEKPYECSECGKAFCGKSPLIIHQKTHPREKTPE
CAESGMTFFWKSQMITYQRRHTGEKPSRCSDCGKAFCQHVYFTGHQNPYRKDTLYIC
Sequence length 657
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Common variable immunodeficiency Common Variable Immunodeficiency rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113
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