ZC4H2_HUMAN
ID ZC4H2_HUMAN Reviewed; 224 AA.
AC Q9NQZ6; B2RDC2; B3KVZ5; B4DED0; E7EM74; G3V1L3; Q53H73; Q5JTF9; Q9H9C3;
AC Q9H9H7; Q9ULQ4;
DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2000, sequence version 1.
DT 03-AUG-2022, entry version 158.
DE RecName: Full=Zinc finger C4H2 domain-containing protein;
DE AltName: Full=Hepatocellular carcinoma-associated antigen 127;
GN Name=ZC4H2; Synonyms=HCA127, KIAA1166;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Hepatoma;
RX PubMed=12097419; DOI=10.4049/jimmunol.169.2.1102;
RA Wang Y., Han K.-J., Pang X.-W., Vaughan H.A., Qu W., Dong X.-Y.,
RA Peng J.-R., Zhao H.-T., Rui J.-A., Leng X.-S., Cebon J., Burgess A.W.,
RA Chen W.-F.;
RT "Large scale identification of human hepatocellular carcinoma-associated
RT antigens by autoantibodies.";
RL J. Immunol. 169:1102-1109(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Brain;
RX PubMed=10574461; DOI=10.1093/dnares/6.5.329;
RA Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.;
RT "Characterization of cDNA clones selected by the GeneMark analysis from
RT size-fractionated cDNA libraries from human brain.";
RL DNA Res. 6:329-336(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3; 4 AND 5).
RC TISSUE=Cerebellum, Neuroblastoma, and Teratocarcinoma;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Colon;
RA Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y.,
RA Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP INVOLVEMENT IN WRWF, VARIANTS WRWF LEU-63; GLN-198; SER-201 AND TRP-213,
RP CHARACTERIZATION OF VARIANTS WRWF LEU-63; GLN-198; SER-201 AND TRP-213,
RP FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=23623388; DOI=10.1016/j.ajhg.2013.03.021;
RA Hirata H., Nanda I., van Riesen A., McMichael G., Hu H., Hambrock M.,
RA Papon M.A., Fischer U., Marouillat S., Ding C., Alirol S., Bienek M.,
RA Preisler-Adams S., Grimme A., Seelow D., Webster R., Haan E., Maclennan A.,
RA Stenzel W., Yap T.Y., Gardner A., Nguyen L.S., Shaw M., Lebrun N.,
RA Haas S.A., Kress W., Haaf T., Schellenberger E., Chelly J., Viot G.,
RA Shaffer L.G., Rosenfeld J.A., Kramer N., Falk R., El-Khechen D.,
RA Escobar L.F., Hennekam R., Wieacker P., Hubner C., Ropers H.H., Gecz J.,
RA Schuelke M., Laumonnier F., Kalscheuer V.M.;
RT "ZC4H2 mutations are associated with arthrogryposis multiplex congenita and
RT intellectual disability through impairment of central and peripheral
RT synaptic plasticity.";
RL Am. J. Hum. Genet. 92:681-695(2013).
RN [9]
RP VARIANTS WRWF LYS-18; HIS-66 AND TRP-213, CHARACTERIZATION OF VARIANTS WRWF
RP LYS-18; HIS-66 AND TRP-213, FUNCTION, SUBCELLULAR LOCATION, AND TISSUE
RP SPECIFICITY.
RX PubMed=26056227; DOI=10.1093/hmg/ddv208;
RA May M., Hwang K.S., Miles J., Williams C., Niranjan T., Kahler S.G.,
RA Chiurazzi P., Steindl K., Van Der Spek P.J., Swagemakers S., Mueller J.,
RA Stefl S., Alexov E., Ryu J.I., Choi J.H., Kim H.T., Tarpey P., Neri G.,
RA Holloway L., Skinner C., Stevenson R.E., Dorsky R.I., Wang T.,
RA Schwartz C.E., Kim C.H.;
RT "ZC4H2, an XLID gene, is required for the generation of a specific subset
RT of CNS interneurons.";
RL Hum. Mol. Genet. 24:4848-4861(2015).
RN [10]
RP INVOLVEMENT IN WRWFFR, VARIANTS WRWFFR 23-GLN--GLU-224 DEL; 67-ARG--GLU-224
RP DEL; GLN-70; 142-TRP--GLU-224 DEL; HIS-201; SER-203 TRP-213 AND PHE-206,
RP AND VARIANTS WRWF GLN-198; THR-200; VAL-200; TRP-213 AND ARG-217.
RX PubMed=31206972; DOI=10.1002/humu.23841;
RA Frints S.G.M., Hennig F., Colombo R., Jacquemont S., Terhal P.,
RA Zimmerman H.H., Hunt D., Mendelsohn B.A., Kordass U., Webster R.,
RA Sinnema M., Abdul-Rahman O., Suckow V., Fernandez-Jaen A.,
RA van Roozendaal K., Stevens S.J.C., Macville M.V.E., Al-Nasiry S.,
RA van Gassen K., Utzig N., Koudijs S.M., McGregor L., Maas S.M., Baralle D.,
RA Dixit A., Wieacker P., Lee M., Lee A.S., Engle E.C., Houge G., Gradek G.A.,
RA Douglas A.G.L., Longman C., Joss S., Velasco D., Hennekam R.C., Hirata H.,
RA Kalscheuer V.M.;
RT "Deleterious de novo variants of X-linked ZC4H2 in females cause a variable
RT phenotype with neurogenic arthrogryposis multiplex congenita.";
RL Hum. Mutat. 40:2270-2285(2019).
CC -!- FUNCTION: Plays a role in interneurons differentiation
CC (PubMed:26056227). Involved in neuronal development and in
CC neuromuscular junction formation. {ECO:0000269|PubMed:23623388,
CC ECO:0000269|PubMed:26056227}.
CC -!- INTERACTION:
CC Q9NQZ6; P51164: ATP4B; NbExp=3; IntAct=EBI-747993, EBI-3904463;
CC Q9NQZ6; Q8IY22-3: CMIP; NbExp=3; IntAct=EBI-747993, EBI-12149877;
CC Q9NQZ6; Q96MY7: FAM161B; NbExp=3; IntAct=EBI-747993, EBI-7225287;
CC Q9NQZ6; Q96CN9: GCC1; NbExp=3; IntAct=EBI-747993, EBI-746252;
CC Q9NQZ6; P55040: GEM; NbExp=3; IntAct=EBI-747993, EBI-744104;
CC Q9NQZ6; P09067: HOXB5; NbExp=3; IntAct=EBI-747993, EBI-3893317;
CC Q9NQZ6; Q494U1-3: PLEKHN1; NbExp=3; IntAct=EBI-747993, EBI-12014286;
CC Q9NQZ6; P41219: PRPH; NbExp=3; IntAct=EBI-747993, EBI-752074;
CC Q9NQZ6; Q2KHN1: RNF151; NbExp=3; IntAct=EBI-747993, EBI-12002474;
CC Q9NQZ6; O60504: SORBS3; NbExp=3; IntAct=EBI-747993, EBI-741237;
CC Q9NQZ6; Q9UK11: ZNF223; NbExp=4; IntAct=EBI-747993, EBI-10322867;
CC Q9NQZ6; P15622-3: ZNF250; NbExp=6; IntAct=EBI-747993, EBI-10177272;
CC Q9NQZ6; Q9H9D4: ZNF408; NbExp=3; IntAct=EBI-747993, EBI-347633;
CC Q9NQZ6; Q9ULM2: ZNF490; NbExp=7; IntAct=EBI-747993, EBI-1105370;
CC Q9NQZ6; Q96C55: ZNF524; NbExp=3; IntAct=EBI-747993, EBI-10283126;
CC Q9NQZ6; Q96BR6: ZNF669; NbExp=5; IntAct=EBI-747993, EBI-12006574;
CC Q9NQZ6; A0A0S2Z5X4: ZNF688; NbExp=3; IntAct=EBI-747993, EBI-16429014;
CC Q9NQZ6; P36508: ZNF76; NbExp=5; IntAct=EBI-747993, EBI-7254550;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23623388}. Nucleus
CC {ECO:0000269|PubMed:23623388, ECO:0000269|PubMed:26056227}.
CC Postsynaptic cell membrane {ECO:0000269|PubMed:23623388}. Note=Upon
CC transfection into mouse primary hippocampal neurons, localizes at
CC excitatory, but not inhibitory, postsynaptic sites.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q9NQZ6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9NQZ6-2; Sequence=VSP_008517, VSP_008518;
CC Name=3;
CC IsoId=Q9NQZ6-3; Sequence=VSP_013469;
CC Name=4;
CC IsoId=Q9NQZ6-4; Sequence=VSP_042513;
CC Name=5;
CC IsoId=Q9NQZ6-5; Sequence=VSP_047588;
CC -!- TISSUE SPECIFICITY: Expressed in fetal tissues, including in brain,
CC intestine, lung, kidney and muscle (PubMed:23623388). Isoform 1 is
CC expressed in numerous fetal brain regions. Isoform 3 is highly
CC expressed in numerous fetal brain regions and spinal cord
CC (PubMed:26056227). {ECO:0000269|PubMed:23623388}.
CC -!- DISEASE: Wieacker-Wolf syndrome (WRWF) [MIM:314580]: A severe X-linked
CC recessive neurodevelopmental disorder affecting the central and
CC peripheral nervous systems. It is characterized by onset of muscle
CC weakness in utero (fetal akinesia). Affected boys are born with severe
CC contractures, known as arthrogryposis, and have delayed motor
CC development, facial and bulbar weakness, characteristic dysmorphic
CC facial features, and skeletal abnormalities, such as hip dislocation,
CC scoliosis, and pes equinovarus. Those that survive infancy show
CC intellectual disability. Carrier females may have mild features of the
CC disorder. {ECO:0000269|PubMed:23623388, ECO:0000269|PubMed:26056227,
CC ECO:0000269|PubMed:31206972}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Wieacker-Wolff syndrome, female-restricted (WRWFFR)
CC [MIM:301041]: An X-linked dominant neurodevelopmental disorder
CC affecting the central and peripheral nervous systems. It is
CC characterized by onset of muscle weakness in utero resulting in fetal
CC akinesia, arthrogryposis multiplex congenita and diffuse contractures
CC apparent at birth, global developmental delay with difficulty walking
CC or inability to walk, hypotonia, variably impaired intellectual
CC development, poor or absent speech and language, and dysmorphic
CC features. {ECO:0000269|PubMed:31206972}. Note=The disease is caused by
CC variants affecting the gene represented in this entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA86480.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF270491; AAF75787.1; -; mRNA.
DR EMBL; AB032992; BAA86480.1; ALT_INIT; mRNA.
DR EMBL; AK022807; BAB14252.1; -; mRNA.
DR EMBL; AK022918; BAB14308.1; -; mRNA.
DR EMBL; AK315485; BAG37869.1; -; mRNA.
DR EMBL; AK123763; BAG53957.1; -; mRNA.
DR EMBL; AK293570; BAG57041.1; -; mRNA.
DR EMBL; AK222708; BAD96428.1; -; mRNA.
DR EMBL; AL355606; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471132; EAX05408.1; -; Genomic_DNA.
DR EMBL; CH471132; EAX05409.1; -; Genomic_DNA.
DR EMBL; BC004411; AAH04411.1; -; mRNA.
DR CCDS; CCDS14380.1; -. [Q9NQZ6-1]
DR CCDS; CCDS55431.1; -. [Q9NQZ6-3]
DR CCDS; CCDS55432.1; -. [Q9NQZ6-4]
DR RefSeq; NP_001171503.1; NM_001178032.2. [Q9NQZ6-3]
DR RefSeq; NP_001171504.1; NM_001178033.2. [Q9NQZ6-4]
DR RefSeq; NP_001230733.1; NM_001243804.1. [Q9NQZ6-3]
DR RefSeq; NP_061154.1; NM_018684.3. [Q9NQZ6-1]
DR AlphaFoldDB; Q9NQZ6; -.
DR SMR; Q9NQZ6; -.
DR BioGRID; 120992; 43.
DR IntAct; Q9NQZ6; 29.
DR STRING; 9606.ENSP00000363972; -.
DR iPTMnet; Q9NQZ6; -.
DR PhosphoSitePlus; Q9NQZ6; -.
DR BioMuta; ZC4H2; -.
DR DMDM; 41688815; -.
DR EPD; Q9NQZ6; -.
DR jPOST; Q9NQZ6; -.
DR MassIVE; Q9NQZ6; -.
DR MaxQB; Q9NQZ6; -.
DR PaxDb; Q9NQZ6; -.
DR PeptideAtlas; Q9NQZ6; -.
DR PRIDE; Q9NQZ6; -.
DR ProteomicsDB; 32368; -.
DR ProteomicsDB; 82234; -. [Q9NQZ6-1]
DR ProteomicsDB; 82235; -. [Q9NQZ6-2]
DR ProteomicsDB; 82236; -. [Q9NQZ6-3]
DR ProteomicsDB; 82237; -. [Q9NQZ6-4]
DR Antibodypedia; 27070; 111 antibodies from 19 providers.
DR DNASU; 55906; -.
DR Ensembl; ENST00000337990.2; ENSP00000338650.2; ENSG00000126970.16. [Q9NQZ6-3]
DR Ensembl; ENST00000374839.8; ENSP00000363972.3; ENSG00000126970.16. [Q9NQZ6-1]
DR Ensembl; ENST00000447788.6; ENSP00000399126.2; ENSG00000126970.16. [Q9NQZ6-4]
DR GeneID; 55906; -.
DR KEGG; hsa:55906; -.
DR MANE-Select; ENST00000374839.8; ENSP00000363972.3; NM_018684.4; NP_061154.1.
DR UCSC; uc004dvu.4; human. [Q9NQZ6-1]
DR CTD; 55906; -.
DR DisGeNET; 55906; -.
DR GeneCards; ZC4H2; -.
DR HGNC; HGNC:24931; ZC4H2.
DR HPA; ENSG00000126970; Low tissue specificity.
DR MalaCards; ZC4H2; -.
DR MIM; 300897; gene.
DR MIM; 301041; phenotype.
DR MIM; 314580; phenotype.
DR neXtProt; NX_Q9NQZ6; -.
DR OpenTargets; ENSG00000126970; -.
DR Orphanet; 3454; Intellectual disability-developmental delay-contractures syndrome.
DR PharmGKB; PA164727643; -.
DR VEuPathDB; HostDB:ENSG00000126970; -.
DR eggNOG; KOG4451; Eukaryota.
DR GeneTree; ENSGT00390000018389; -.
DR HOGENOM; CLU_1365899_0_0_1; -.
DR InParanoid; Q9NQZ6; -.
DR OMA; MQKAEWR; -.
DR OrthoDB; 1316216at2759; -.
DR PhylomeDB; Q9NQZ6; -.
DR TreeFam; TF315275; -.
DR PathwayCommons; Q9NQZ6; -.
DR SignaLink; Q9NQZ6; -.
DR BioGRID-ORCS; 55906; 7 hits in 701 CRISPR screens.
DR ChiTaRS; ZC4H2; human.
DR GeneWiki; KIAA1166; -.
DR GenomeRNAi; 55906; -.
DR Pharos; Q9NQZ6; Tbio.
DR PRO; PR:Q9NQZ6; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9NQZ6; protein.
DR Bgee; ENSG00000126970; Expressed in ganglionic eminence and 132 other tissues.
DR Genevisible; Q9NQZ6; HS.
DR GO; GO:0070161; C:anchoring junction; IEA:UniProtKB-KW.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0045211; C:postsynaptic membrane; IDA:UniProtKB.
DR GO; GO:0032991; C:protein-containing complex; IDA:GO_Central.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0007399; P:nervous system development; IDA:UniProtKB.
DR GO; GO:0007528; P:neuromuscular junction development; ISS:UniProtKB.
DR GO; GO:0003358; P:noradrenergic neuron development; IEA:Ensembl.
DR GO; GO:0051091; P:positive regulation of DNA-binding transcription factor activity; IGI:MGI.
DR GO; GO:0045666; P:positive regulation of neuron differentiation; IMP:UniProtKB.
DR GO; GO:0006513; P:protein monoubiquitination; IGI:MGI.
DR GO; GO:2000677; P:regulation of transcription regulatory region DNA binding; IGI:MGI.
DR GO; GO:0021522; P:spinal cord motor neuron differentiation; ISS:UniProtKB.
DR InterPro; IPR044069; ZF_C4H2.
DR InterPro; IPR018482; Znf-C4H2.
DR PANTHER; PTHR31058; PTHR31058; 1.
DR Pfam; PF10146; zf-C4H2; 2.
DR PROSITE; PS51896; ZF_C4H2; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Coiled coil; Cytoplasm;
KW Developmental protein; Differentiation; Disease variant;
KW Intellectual disability; Membrane; Metal-binding; Nucleus;
KW Postsynaptic cell membrane; Reference proteome; Synapse; Zinc; Zinc-finger.
FT CHAIN 1..224
FT /note="Zinc finger C4H2 domain-containing protein"
FT /id="PRO_0000083911"
FT ZN_FING 189..206
FT /note="C4H2-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU01244"
FT COILED 11..104
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..23
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_013469"
FT VAR_SEQ 1..17
FT /note="MADEQEIMCKLESIKEI -> MIHFHLIFLYVA (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047588"
FT VAR_SEQ 133..224
FT /note="DYFEKQKAEWQTEPQEPPIPESLAAAAAAAQQLQVARKQDTRQTATFRQQPP
FT PMKACLSCHQQIHRNAPICPLCKAKSRSRNPKKPKRKQDE -> EPACHVTSKFTGMHL
FT YALFARPRVGPGTPKSRNGSRMNKEREST (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042513"
FT VAR_SEQ 133
FT /note="D -> E (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10574461"
FT /id="VSP_008517"
FT VAR_SEQ 134..224
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10574461"
FT /id="VSP_008518"
FT VARIANT 18
FT /note="R -> K (in WRWF; no effect on subcellular
FT localization; no loss of function; rescues interneurons
FT differentiation when expressed in a zebrafish heterologous
FT system; dbSNP:rs1057520299)"
FT /evidence="ECO:0000269|PubMed:26056227"
FT /id="VAR_079397"
FT VARIANT 23..224
FT /note="Missing (in WRWFFR)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083952"
FT VARIANT 63
FT /note="V -> L (in WRWF; causes a decrease in synapse number
FT and density; dbSNP:rs398122938)"
FT /evidence="ECO:0000269|PubMed:23623388"
FT /id="VAR_069621"
FT VARIANT 66
FT /note="L -> H (in WRWF; no effect on subcellular
FT localization; partial loss of function; rescues partially
FT interneurons differentiation when expressed in a zebrafish
FT heterologous system; dbSNP:rs1057520297)"
FT /evidence="ECO:0000269|PubMed:26056227"
FT /id="VAR_079398"
FT VARIANT 67..224
FT /note="Missing (in WRWFFR)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083953"
FT VARIANT 70
FT /note="H -> Q (in WRWF)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083954"
FT VARIANT 142..224
FT /note="Missing (in WRWFFR)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083955"
FT VARIANT 198
FT /note="R -> Q (in WRWF; causes a decrease in synapse number
FT and density; dbSNP:rs879255235)"
FT /evidence="ECO:0000269|PubMed:23623388,
FT ECO:0000269|PubMed:31206972"
FT /id="VAR_069622"
FT VARIANT 200
FT /note="A -> T (in WRWF)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083956"
FT VARIANT 200
FT /note="A -> V (in WRWF)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083957"
FT VARIANT 201
FT /note="P -> H (in WRWF)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083958"
FT VARIANT 201
FT /note="P -> S (in WRWF; causes a decrease in synapse number
FT and density; dbSNP:rs398122939)"
FT /evidence="ECO:0000269|PubMed:23623388"
FT /id="VAR_069623"
FT VARIANT 203
FT /note="C -> S (in WRWFFR)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083959"
FT VARIANT 206
FT /note="C -> F (in WRWFFR; dbSNP:rs1064795753)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083960"
FT VARIANT 213
FT /note="R -> W (in WRWF; increased cytoplasmic subcellular
FT localization; partial loss of function; rescues partially
FT interneurons differentiation when expressed in a zebrafish
FT heterologous system; dbSNP:rs879255236)"
FT /evidence="ECO:0000269|PubMed:23623388,
FT ECO:0000269|PubMed:26056227, ECO:0000269|PubMed:31206972"
FT /id="VAR_069624"
FT VARIANT 217
FT /note="K -> R (in WRWF)"
FT /evidence="ECO:0000269|PubMed:31206972"
FT /id="VAR_083961"
FT CONFLICT 27
FT /note="I -> V (in Ref. 4; BAG53957)"
FT /evidence="ECO:0000305"
FT CONFLICT 52
FT /note="M -> T (in Ref. 4; BAG53957)"
FT /evidence="ECO:0000305"
FT CONFLICT 150
FT /note="P -> S (in Ref. 4; BAD96428)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 224 AA; 26244 MW; B8392407FB4A2012 CRC64;
MADEQEIMCK LESIKEIRNK TLQMEKIKAR LKAEFEALES EERHLKEYKQ EMDLLLQEKM
AHVEELRLIH ADINVMENTI KQSENDLNKL LESTRRLHDE YKPLKEHVDA LRMTLGLQRL
PDLCEEEEKL SLDYFEKQKA EWQTEPQEPP IPESLAAAAA AAQQLQVARK QDTRQTATFR
QQPPPMKACL SCHQQIHRNA PICPLCKAKS RSRNPKKPKR KQDE
